258:
165:
543:
134:
578:
1018:
247:
25:
574:(HSCT), which offers a satisfactory treatment modality for a considerable percentage of infantile osteopetrosis. Amelioration of radiographic bone lesions after HSCT in infantile osteopetrosis has been proposed as an important indicator of success of the therapy. A few publications with limited study participants have demonstrated the resolution of skeletal radiographic pathology following HSCT.
1244:
Recent research demonstrated that the systematic administration of RANKL for one month to Rankl(-/-) mice, which closely resemble the human disease, significantly improved the bone phenotype and has beneficial effects on bone marrow, spleen and thymus; major adverse effects arise only when mice are
1013:
Mutations in any of the genes associated with osteopetrosis lead to abnormal or missing osteoclasts. Without functional osteoclasts, old bone is not broken down as new bone is formed. As a result, bones throughout the skeleton become unusually dense. The bones are also structurally abnormal, making
707:
The genes associated with osteopetrosis are involved in the development and/or function of osteoclasts, cells that break down bone tissue when old bone is being replaced by new bone (bone remodeling). This process is necessary to keep bones strong and healthy. Mutations in these genes can lead to
549:
Autosomal recessive osteopetrosis (ARO), also known as malignant infantile osteopetrosis or infantile malignant osteopetrosis (IMO), is a rare type of skeletal dysplasia characterized by a distinct radiographic pattern of overall increased density of the bones with fundamental involvement of the
1197:
seems to have cured some infants with early-onset disease. However, the long-term prognosis after transplantation is unknown. For those with onset in childhood or adolescence, the effect of the condition depends on the specific symptoms (including how fragile the bones are and how much pain is
1136:
can be treated as usual. Treatment for osteopetrosis depends on the specific symptoms present and the severity in each person. Therefore, treatment options must be evaluated on an individual basis. Nutritional support is important to improve growth and it also enhances responsiveness to other
1009:
The genes associated with osteopetrosis are involved in the formation, development, and function of specialized cells called osteoclasts. These cells break down bone tissue during bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. Bones are
1192:
The long-term outlook for people with osteopetrosis depends on the subtype and the severity of the condition in each person. The severe infantile forms of osteopetrosis are associated with shortened life expectancy, with most untreated children not surviving past their first decade.
756:
Normally, bone growth is a balance between osteoblasts (cells that create bone tissue) and osteoclasts (cells that destroy bone tissue). Those with osteopetrosis have a deficiency of osteoclasts, meaning too little bone is being resorbed, resulting in too much bone being created.
1038:
are hereditary ostoesclerosing dysplasias such as; neuropathic infantile osteopetrosis, infantile osteopetrosis with renal tubular acidosis, infantile osteopetrosis with immunodeficiency, infantile osteopetrosis with leukocyte adhesion deficiency syndrome (LAD-III),
550:
medullary portion. Infantile osteopetrosis typically manifests in infancy. Diagnosis is principally based on clinical and radiographic evaluation, confirmed by gene analysis where applicable. As a result of medullary canal obliteration and bony expansion, grave
589:
Autosomal dominant osteopetrosis (ADO) is also known as Albers-Schönberg disease. Most do not know they have this disorder because most individuals do not show any symptoms. However, those who do show symptoms will typically have a curvature of the spine
233:
and a range of clinical features, all forms share a single pathogenic nexus in the osteoclast. The exact molecular defects or location of the mutations taking place are unknown. Osteopetrosis was first described in 1903 by German radiologist
1179:
In pediatric (childhood) osteopetrosis, surgery is sometimes needed because of fractures. Adult osteopetrosis typically does not require treatment, but complications of the condition may require intervention. Surgery may be needed for
959:
and bone resorption (breakdown of bone matrix) by osteoclasts. In osteopetrosis, the number of osteoclasts may be reduced, normal, or increased. Most importantly, osteoclast dysfunction mediates the pathogenesis of this disease.
971:
gene. Carbonic anhydrase is required by osteoclasts for proton production. Without this enzyme hydrogen ion pumping is inhibited and bone resorption by osteoclasts is defective, as an acidic environment is needed to dissociate
2129:
Susani, Lucia; Pangrazio, Alessandra; Sobacchi, Cristina; Taranta, Anna; Mortier, Geert; Savarirayan, Ravi; Villa, Anna; Orchard, Paul; Vezzoni, Paolo; Albertini, Alberto; Frattini, Annalisa; Pagani, Franco (September 2004).
1621:
Hashemi Taheri AP, Radmard AR, Kooraki S, Behfar M, Pak N, Hamidieh AA; et al. (2015). "Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation".
1245:
clearly overtreated. Overall, it provided evidence that the pharmacological administration of RANKL represents the appropriate treatment option for RANKL-deficient ARO patients, to be validated in a pilot clinical trial.
566:
type 2 which is characterized by the absence of normal diaphysial metaphysical modeling of the distal femora with abnormal radiographic appearance of trabecular bone and alternating radiolucent metaphyseal bands.
2218:
2203:
1115:
transplantion is being investigated in clinical trials. It is believed the healthy marrow will provide cells from which osteoclasts will develop. If complications occur in children, patients can be treated with
703:
The various types of osteopetrosis are caused by genetic changes (mutations) in one of at least ten genes. There is nothing a parent can do before, during or after a pregnancy to cause osteopetrosis in a child.
995:
gene mutations cause about 50 percent of cases of autosomal recessive osteopetrosis. Mutations in other genes are less common causes of autosomal dominant and autosomal recessive forms of the disorder. The
1221:
The adult type of osteopetrosis affects about 1,250 individuals in the United States. One in every 200,000 individuals is affected by the adult type of osteopetrosis. Higher rates have been found in
1723:
Memet, Aker; Rouvinski, Alex; Hshavia, Saar; Ta-Shma, Asaf; Shaag, Avraham; Zenvirt, Shamir; Israel, Shoshana; Weintraub, Michael; Taraboulos, Albert; Bar-Shavit, Zvi; Elpeleg, Orly (April 2012).
1978:
Lo Iacono, Nadia; Blair, Harry C.; Poliani, Pietro L.; Marrella, Veronica; Ficara, Francesca; Cassani, Barbara; Facchetti, Fabio; Fontana, Elena; Guerrini, Matteo M. (December 2012).
254:
Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems.
570:
The precise and early diagnosis of infantile osteopetrosis is important for management of complications, genetic counselling, and timely institution of appropriate treatment, namely
1819:
Ihde LL, Forrester DM, Gottsegen CJ, Masih S, Patel DB, Vachon LA; et al. (2011). "Sclerosing bone dysplasias: Review and differentiation from other causes of osteosclerosis".
1176:(BMT) improves some cases of severe, infantile osteopetrosis associated with bone marrow failure, and offers the best chance of longer-term survival for individuals with this type.
1210:
each year with the malignant infantile type of osteopetrosis. One in every 100,000 to 500,000 individuals is born with this form of osteopetrosis. Higher rates have been found in
562:
features include endobone or "bone-within-bone" appearance in the spine, pelvis and proximal femora, upper limbs, and short tubular bones of the hand. Additionally, there is the
2827:
3319:
963:
Osteopetrosis is caused by underlying mutations that interfere with the acidification of the osteoclast resorption pit, for example due to a deficiency of the
4827:
4017:
3536:
4520:
712:, or having too few osteoclasts. If this happens, old bone cannot be broken down as new bone is formed, so bones become too dense and prone to breaking.
3455:
2724:
3175:
2820:
1854:
1665:
1607:
1560:
1497:
594:) and multiple bone fractures. There are two types of adult osteopetrosis based on the basis of radiographic, biochemical, and clinical features.
4089:
4065:
2879:
2343:
2132:"TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA"
4712:
3940:
1576:"Reversal of skeletal radiographic pathology in a case of malignant infantile osteopetrosis following hematopoietic stem cell transplantation"
989:
osteopetrosis, 10 to 15 percent of cases of autosomal recessive osteopetrosis, and all known cases of intermediate autosomal osteopetrosis.
2920:
2027:
1868:
4765:
3336:
2813:
1067:. Besides, the differential diagnosis includes acquired conditions that induce osteosclerosis such as osteosclerotic metastasis notably
4022:
3629:
3332:
2904:
4837:
4751:
3585:
3361:
3236:
3202:
2987:
2405:
380:
1228:
Osteopetrosis affects one newborn out of every 20,000 to 250,000 worldwide, but the odds are much higher in the
Russian region of
225:. It is considered to be the prototype of osteosclerosing dysplasias. The cause of the disease is understood to be malfunctioning
3846:
3421:
2964:
2915:
1108:
571:
4531:
4428:
2428:
1962:
1248:
Interferon gamma-1b is FDA-approved to delay the time to disease progression in patients with severe, malignant osteopetrosis.
1184:
or functional reasons (such as multiple fractures, deformity, and loss of function), or for severe degenerative joint disease.
3373:
3240:
3216:
89:
4618:
4481:
3561:
3476:
3438:
3033:
3010:
2778:
2752:
61:
4698:
3675:
3663:
3129:
3101:
3085:
2633:
2614:
2438:
2410:
2336:
2233:
1138:
2790:
4633:
4382:
4321:
2783:
924:
3211:
4416:
3872:
3548:
3324:
2884:
1707:
537:
108:
68:
2757:
229:
and their inability to resorb bone. Although human osteopetrosis is a heterogeneous disorder encompassing different
4180:
4175:
3409:
3397:
1770:
Askmyr MK et al.: Towards a better understanding and new therapeutics of osteopetrosis. Br J Haematol 140:597, 208
1010:
constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy.
4684:
4679:
4264:
4108:
3596:
3526:
3279:
2892:
1048:
1034:. They constitute a wide array of disorders with clinically and radiologically diverse manifestations. Among the
1980:"Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO"
1014:
them prone to fracture. These problems with bone remodeling underlie all of the major features of osteopetrosis.
4792:
4746:
4307:
4103:
3954:
3622:
3347:
3191:
3163:
2952:
2382:
2329:
1060:
75:
46:
42:
4668:
4592:
4495:
4118:
3959:
3897:
3531:
3494:
2557:
2501:
2433:
2053:
4402:
4293:
4060:
3887:
3460:
2506:
373:
280:
2174:
1111:(osteoclasts are derived from hematopoietic precursors). There is no cure, although curative therapy with
235:
57:
4674:
4457:
3839:
3714:
3573:
1194:
1173:
1084:
976:
from the bone matrix. As bone resorption fails while bone formation continues, excessive bone is formed.
2028:"List of FDA Orphan Drugs | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
148:
of a patient with osteopetrosis, adult onset form (Albers-Schönberg disease). Note the dense appearance.
4722:
3511:
3448:
3294:
3122:
3110:
2845:
2668:
2623:
2309:
2088:
1072:
676:
563:
508:
2082:
Penna, Sara; Capo, Valentina; Palagano, Eleonora; Sobacchi, Cristina; Villa, Anna (19 February 2019).
1620:
687:. About 40% of patients will experience recurrent fractures of their bones. 10% of patients will have
4192:
3726:
3615:
3385:
2959:
2940:
2872:
2744:
2729:
2045:
1267:
1943:"Остеопетроз рецессивный (мраморная болезнь костей) - ДНК-диагностика - Центр Молекулярной Генетики"
164:
4387:
3784:
3302:
3254:
3064:
3005:
2247:
1680:
1510:
486:
257:
724:
osteopetrosis (the most severe form), and all known cases of intermediate autosomal osteopetrosis.
4239:
3307:
3142:
2717:
2654:
1818:
366:
35:
2031:
1876:
1159:
function (leading to fewer infections), decreases bone volume, and increases bone marrow volume.
1006:
gene. In about 30 percent of all cases of osteopetrosis, the cause of the condition is unknown.
4832:
4113:
3998:
3832:
3756:
3607:
3054:
3048:
2888:
2684:
2605:
1418:
1120:. Gamma interferon has also been shown to be effective, and it can be associated to vitamin D.
1035:
973:
866:
684:
290:
196:
1311:"Marble bone disease: a review of osteopetrosis and its oral health implications for dentists"
1289:"Marble Bone Disease: A Review of Osteopetrosis and Its Oral Health Implications for Dentists"
4807:
4647:
3515:
2908:
2836:
2734:
2522:
2400:
2360:
2352:
1848:
1659:
1601:
1554:
1491:
1080:
968:
861:
1924:
979:
Mutations in at least nine genes cause the various types of osteopetrosis. Mutations in the
4213:
4003:
2936:
2867:
401:
301:
82:
1942:
8:
3761:
3710:
3250:
3246:
2927:
2773:
2704:
2551:
2489:
2222:
1511:
Orchard PJ, Fasth AL, Le
Rademacher J, He W, Boelens JJ, Horwitz EM; et al. (2015).
1092:
1052:
732:
721:
406:
1900:
1869:"Osteopetrosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
4727:
4717:
4550:
3224:
2691:
2227:
2163:
2112:
2083:
1647:
1573:
1537:
1512:
1474:
1449:
1376:
1341:
1096:
1064:
1056:
986:
964:
276:
250:
A 17-year-old male with osteopetrosis: Typical cranial deformity and thoracic scoliosis
1450:"A case of infantile osteopetrosis: The radioclinical features with literature update"
1447:
4564:
4467:
4392:
4368:
4255:
3265:
3138:
3114:
3094:
3090:
2805:
2647:
2593:
2258:
2155:
2117:
2009:
2001:
1836:
1746:
1703:
1639:
1542:
1479:
1381:
1363:
1322:
1310:
1288:
153:
2167:
1959:
1651:
4606:
4511:
4462:
4443:
4397:
4354:
4340:
4326:
4151:
4146:
4132:
4084:
3973:
3921:
3916:
3911:
3638:
3158:
3153:
3118:
3078:
2850:
2671:
2582:
2527:
2496:
2287:
2145:
2107:
2097:
1991:
1828:
1736:
1681:"Sandwich vertebral body | Radiology Reference Article | Radiopaedia.org"
1631:
1587:
1532:
1524:
1469:
1461:
1371:
1353:
1156:
341:
313:
307:
230:
158:
1795:
1741:
1030:
The differential diagnosis of osteopetrosis includes other disorders that produce
218:, in which the bones soften. Osteopetrosis can cause bones to dissolve and break.
4777:
4545:
4526:
4279:
4170:
4165:
4070:
3935:
3892:
3863:
3814:
3146:
2712:
2679:
2461:
2252:
1966:
1528:
1044:
1040:
1592:
1575:
4038:
3749:
3698:
3472:
3380:
3312:
3134:
3106:
2642:
2588:
2542:
2456:
2448:
2365:
2136:
1465:
1233:
1166:
1162:
1129:
1121:
1031:
680:
333:
269:
222:
2263:
2212:
720:
gene cause most cases of autosomal dominant osteopetrosis, 10-15% of cases of
4821:
3855:
3170:
2932:
2102:
2005:
1367:
1207:
1133:
1088:
1076:
688:
351:
133:
2298:
1152:) appears to stimulate dormant osteoclasts, which stimulates bone resorption
4586:
3824:
3489:
3416:
2899:
2159:
2121:
2013:
1840:
1750:
1724:
1643:
1546:
1483:
1385:
1326:
1257:
1132:
may alleviate both the anemia and stimulate bone resorption. Fractures and
1017:
672:
551:
542:
460:
346:
294:
215:
211:
2084:"One Disease, Many Genes: Implications for the Treatment of Osteopetroses"
1779:
Robbins Basic
Pathology by Kumar, Abbas, Fausto, and Mitchell, 8th edition
1358:
577:
4786:
2573:
2321:
1832:
1112:
956:
559:
226:
2195:
3187:
2392:
2293:
2150:
2131:
1215:
1181:
1149:
709:
416:
246:
1996:
1979:
1635:
955:
Normal bone growth is achieved by a balance between bone formation by
3404:
3392:
3368:
2569:
2420:
2374:
2282:
1513:"Hematopoietic stem cell transplantation for infantile osteopetrosis"
1229:
1117:
1068:
940:
903:
668:
591:
555:
554:, cranial nerve compression, and pathologic fractures may ensue. The
396:
336:
328:
322:
286:
24:
4659:
3522:
3356:
3228:
2532:
2304:
997:
743:
692:
297:, due to the increased pressure put on the nerves by the extra bone
2054:"Marin County artist Laurel Burch dead at 61 of rare bone disease"
3779:
2701:
1901:"Osteopetrosis - NORD (National Organization for Rare Disorders)"
1262:
1211:
920:
749:
Mutations in other genes are less common causes of osteopetrosis.
464:
391:
207:
199:
3637:
2241:
2238:
1574:
Elsobky TA, El-Haddad A, Elsobky E, Elsayed SM, Sakr HM (2017).
1000:
type of osteopetrosis, OL-EDA-ID, results from mutations in the
934:
914:
893:
877:
855:
838:
820:
802:
784:
4641:
4600:
4489:
4475:
4233:
4227:
4221:
4207:
4201:
3967:
3948:
3929:
3905:
3881:
3721:
3705:
3693:
3670:
3658:
3642:
3568:
3274:
3232:
2207:
1448:
Elsobky TA, Elsobky E, Sadek I, Elsayed SM, Khattab MF (2016).
1309:
Lam DK, Sándor GK, Holmes HI, Carmichael RP, Clokie CM (2007).
1232:(1 of every 3,500–4,000 newborns) due to genetic traits of the
1222:
1125:
991:
826:
728:
145:
1198:
present). Life expectancy in the adult-onset forms is normal.
752:
In about 30% percent of affected people, the cause is unknown.
4627:
4572:
4558:
4539:
4451:
4410:
4376:
4362:
4348:
4334:
4315:
4301:
4287:
4273:
4159:
4140:
4126:
4097:
4078:
4054:
3744:
3580:
3556:
3182:
2982:
2947:
1977:
1002:
981:
899:
844:
808:
739:
717:
261:
The metabolism of calcium, phosphate, hormones, and
Vitamin D
141:
2175:
1725:"An SNX10 mutation causes malignant osteoporosis of infancy"
1722:
214:, in which the bones become less dense and more brittle, or
4759:
4740:
4736:
4706:
4692:
4437:
4011:
3992:
3543:
3467:
3443:
3073:
3028:
2483:
790:
771:
279:
due to bone expansion leading to bone marrow narrowing and
203:
1155:
Gamma interferon can have long-term benefits. It improves
1308:
1169:
can be used for anemia and to stimulate bone resorption.
2835:
985:
gene are responsible for about 75 percent of cases of
275:
Patients experience anemia, recurrent infections, and
3537:
Junctional epidermolysis bullosa with pyloric atresia
127:
Adult-onset osteopetrosis (Albers-Schönberg
Disease)
2185:
531:
265:
However, serious forms can result in the following:
1225:. Males and females are affected in equal numbers.
1218:. Males and females are affected in equal numbers.
1206:Approximately eight to 40 children are born in the
1141:diet has been beneficial for some affected people.
49:. Unsourced material may be challenged and removed.
272:, deformity, and increased likelihood of fractures
2725:Autosomal recessive multiple epiphyseal dysplasia
1340:Stark, Zornitza; Savarirayan, Ravi (2009-02-20).
4819:
3176:Congenital insensitivity to pain with anhidrosis
1339:
210:, in contrast to more prevalent conditions like
1905:NORD (National Organization for Rare Disorders)
1144:Treatment is necessary for the infantile form:
1107:It was the first genetic disease treated with
3840:
3623:
2821:
2337:
1702:. San diego: Academic Press. pp. 75–90.
1443:
1441:
1439:
1083:or secondary to intoxication or malignancy),
374:
4828:Syndromes with musculoskeletal abnormalities
3854:
2921:Gonadotropin-releasing hormone insensitivity
2128:
1853:: CS1 maint: multiple names: authors list (
1664:: CS1 maint: multiple names: authors list (
1606:: CS1 maint: multiple names: authors list (
1559:: CS1 maint: multiple names: authors list (
1496:: CS1 maint: multiple names: authors list (
455:thick dense bones also known as marble bone
3337:Congenital amegakaryocytic thrombocytopenia
2081:
1302:
3847:
3833:
3630:
3616:
3422:Autoimmune lymphoproliferative syndrome 1A
2905:Follicle-stimulating hormone insensitivity
2828:
2814:
2351:
2344:
2330:
1698:Allen, Matthew R.; Burr, David B. (2014).
1614:
1567:
1436:
671:. The defects are very common and include
381:
367:
163:
132:
4752:Progressive symmetric erythrokeratodermia
3586:X-linked severe combined immunodeficiency
3362:TNF receptor associated periodic syndrome
2149:
2111:
2101:
1995:
1740:
1697:
1591:
1536:
1473:
1375:
1357:
1055:with cranial sclerosis, mixed sclerosing
519:variable (depending on stage of disease)
109:Learn how and when to remove this message
4766:Clouston's hidrotic ectodermal dysplasia
1419:"Albers-Schonberg disease — CheckOrphan"
1016:
576:
541:
256:
245:
3374:Selective immunoglobulin A deficiency 2
2965:Aspirin-exacerbated respiratory disease
1109:hematopoietic stem cell transplantation
572:hematopoietic stem cell transplantation
4820:
4713:Keratitis–ichthyosis–deafness syndrome
4532:Congenital absence of the vas deferens
3549:EDAR hypohidrotic ectodermal dysplasia
3477:Familial exudative vitreoretinopathy 4
3034:Familial exudative vitreoretinopathy 1
2429:Spondyloepiphyseal dysplasia congenita
2051:
1124:has been used to treat any associated
584:
221:It is one of the hereditary causes of
3828:
3611:
3241:Hereditary hemorrhagic telangiectasia
3217:Persistent Müllerian duct syndrome II
2988:Jansen's metaphyseal chondrodysplasia
2809:
2406:Jansen's metaphyseal chondrodysplasia
2325:
1925:"Osteopetrosis: MedlinePlus Genetics"
1895:
1893:
1793:
1789:
1787:
1785:
614:Marked sclerosis mainly of the vault
241:
3562:Nevoid basal-cell carcinoma syndrome
3011:Familial hypocalciuric hypercalcemia
2753:Rhizomelic chondrodysplasia punctata
1984:Journal of Bone and Mineral Research
1812:
1678:
1413:
1411:
1409:
1407:
1405:
1403:
1401:
1399:
1397:
1395:
1059:, progressive diaphyseal dysplasia (
47:adding citations to reliable sources
18:
3676:Alternating hemiplegia of childhood
3664:Alternating hemiplegia of childhood
3325:Surfactant metabolism dysfunction 4
2439:Otospondylomegaepiphyseal dysplasia
2411:Schmid metaphyseal chondrodysplasia
13:
4383:Jervell and Lange-Nielsen syndrome
4322:Jervell and Lange-Nielsen syndrome
3574:BMPR1A juvenile polyposis syndrome
3495:LDLR Familial hypercholesterolemia
1890:
1782:
1239:
1071:of the prostate gland and breast,
1043:(osteopetrosis acro-osteolytica),
558:is poor if untreated. The classic
14:
4849:
2885:Luteinizing hormone insensitivity
2181:
1392:
1346:Orphanet Journal of Rare Diseases
760:
731:gene cause about 50% of cases of
625:Does not show signs of sclerosis
538:Malignant infantile osteopetrosis
532:Malignant infantile osteopetrosis
4838:Diseases named after discoverers
4793:Nephrogenic diabetes insipidus 2
4181:Congenital insensitivity to pain
4176:Paroxysmal extreme pain disorder
4104:Hypokalemic periodic paralysis 2
3955:Hypokalemic periodic paralysis 1
2953:Nephrogenic diabetes insipidus 1
2779:Short rib – polydactyly syndrome
1251:
23:
4685:Hypoplastic left heart syndrome
4496:Thyrotoxic periodic paralysis 2
4109:Hyperkalemic periodic paralysis
3960:Thyrotoxic periodic paralysis 1
2893:Male-limited precocious puberty
2784:Majewski's polydactyly syndrome
2074:
2020:
1971:
1953:
1935:
1917:
1861:
1773:
1764:
1716:
1691:
34:needs additional citations for
4747:Erythrokeratodermia variabilis
4699:Charcot–Marie–Tooth disease X1
4403:Familial atrial fibrillation 3
4308:Spinocerebellar ataxia type-13
4294:Familial atrial fibrillation 7
4061:Familial hemiplegic migraine 3
3888:Familial hemiplegic migraine 1
3280:Leber's congenital amaurosis 1
3192:Gastrointestinal stromal tumor
2052:Maddan, Heather (2007-09-23).
1700:Basic and Applied Bone Biology
1672:
1504:
1333:
1281:
639:Shows endobones in the pelvis
628:Shows the sandwich appearance
1:
4593:Vitelliform macular dystrophy
4119:Potassium-aggravated myotonia
3898:Spinocerebellar ataxia type-6
2558:Hereditary multiple exostoses
2502:Polyostotic fibrous dysplasia
2434:Multiple epiphyseal dysplasia
1742:10.1136/jmedgenet-2011-100520
1274:
1201:
950:
617:Sclerosis mainly of the base
358:Comparison of bone pathology
2791:Léri–Weill dyschondrosteosis
1960:Медицинская генетика Чувашии
1529:10.1182/blood-2015-01-625541
1187:
1165:can be used for anemia, and
1102:
1025:
281:extramedullary hematopoiesis
7:
4680:Hallermann–Streiff syndrome
4675:Oculodentodigital dysplasia
4240:Pseudohypoaldosteronism 1AR
3715:Acrokeratosis verruciformis
2873:Congenital hypothyroidism 1
2058:The San Francisco Chronicle
1729:Journal of Medical Genetics
1593:10.1016/j.ejrnm.2016.12.013
1195:Bone marrow transplantation
1174:Bone marrow transplantation
1087:, osteosclerosing types of
1063:), SOST-related sclerosing
1049:Buschke–Ollendorff syndrome
525:abnormal bone architecture
10:
4854:
3532:Glanzmann's thrombasthenia
3512:Immunoglobulin superfamily
3164:Rabson–Mendenhall syndrome
2846:G protein-coupled receptor
2758:Conradi–Hünermann syndrome
2383:Camurati–Engelmann disease
2089:Frontiers in Endocrinology
1794:Reference, Genetics Home.
1466:10.1016/j.bonr.2015.11.002
1095:, hypervitaminosis D, and
1061:Camurati–Engelmann disease
564:Erlenmeyer flask deformity
535:
4803:
4776:
4658:
4617:
4510:
4427:
4263:
4254:
4191:
4046:
4037:
3984:
3871:
3862:
3810:
3794:
3771:
3736:
3685:
3650:
3504:
3431:
3386:Hyper-IgM syndrome type 3
3346:
3293:
3264:
3201:
3063:
3047:
3020:
2997:
2974:
2859:
2844:
2766:
2745:Chondrodysplasia punctata
2743:
2730:Atelosteogenesis, type II
2700:
2667:
2632:
2613:
2604:
2568:
2541:
2521:
2475:
2447:
2419:
2391:
2373:
2359:
2273:
2189:
1965:February 1, 2016, at the
1873:rarediseases.info.nih.gov
1679:Niknejad, Mohammadtaghi.
1268:Henri de Toulouse-Lautrec
698:
321:Abnormality of vertebral
152:
140:
131:
126:
16:Rare disease of the bones
3856:Diseases of ion channels
3461:Cenani–Lenz syndactylism
3303:Type I cytokine receptor
2941:Hirschsprung's disease 2
2507:McCune–Albright syndrome
2103:10.3389/fendo.2019.00085
667:Many patients will have
487:Osteitis fibrosa cystica
193:Albers-Schönberg disease
4458:Andersen–Tawil syndrome
3143:Thanatophoric dysplasia
2937:Waardenburg syndrome 4a
2655:Thanatophoric dysplasia
1800:Genetics Home Reference
1580:Egypt J Radiol Nucl Med
1085:Erdheim–Chester disease
1073:Paget's disease of bone
1021:Protein TNFSF 11(RANKL)
509:Paget's disease of bone
318:Abnormality of the ribs
300:Abnormal cortical bone
195:, is an extremely rare
4723:Bart–Pumphrey syndrome
4114:Paramyotonia congenita
3999:Malignant hyperthermia
3597:cell surface receptors
3449:Donnai–Barrow syndrome
3123:Jackson–Weiss syndrome
3111:Antley–Bixler syndrome
3095:KAL2 Kallmann syndrome
3049:Enzyme-linked receptor
2889:Leydig cell hypoplasia
2624:Antley–Bixler syndrome
2606:Growth factor receptor
2353:Osteochondrodysplasias
1036:differential diagnosis
1022:
974:calcium hydroxyapatite
967:enzyme encoded by the
867:renal tubular acidosis
685:carpal tunnel syndrome
581:
546:
314:temperature regulation
285:It can also result in
262:
251:
4648:Mucolipidosis type IV
4193:Constitutively active
3727:Hailey–Hailey disease
2909:XX gonadal dysgenesis
2837:Cell surface receptor
2735:Diastrophic dysplasia
2401:Metaphyseal dysplasia
1359:10.1186/1750-1172-4-5
1137:treatment options. A
1020:
655:Serum acid phosphate
580:
545:
306:Abnormal form of the
260:
249:
4579:Osteopetrosis A2, B4
4388:Romano–Ward syndrome
4004:Central core disease
3785:Kufor–Rakeb syndrome
3255:Loeys–Dietz syndrome
1833:10.1148/rg.317115093
1624:Pediatr Blood Cancer
433:decreased bone mass
402:Alkaline phosphatase
43:improve this article
4133:Long QT syndrome 10
2774:Fibrochondrogenesis
2552:osteochondromatosis
2490:Boomerang dysplasia
1423:www.checkorphan.org
1093:sickle cell disease
1065:skeletal dysplasias
1057:skeletal dysplasias
1053:osteopathia striata
733:autosomal recessive
722:autosomal recessive
585:Adult osteopetrosis
407:Parathyroid hormone
359:
189:marble bone disease
4728:Vohwinkel syndrome
4718:Ichthyosis hystrix
4607:Bartter syndrome 3
4551:Myotonia congenita
4463:Long QT syndrome 7
4444:Bartter syndrome 2
4398:Long QT syndrome 1
4355:Brugada syndrome 5
4341:Long QT syndrome 6
4327:Long QT syndrome 5
4171:Febrile seizure 3B
4152:Long QT syndrome 3
4147:Brugada syndrome 1
4085:Brugada syndrome 6
4071:Febrile seizure 3A
3974:Brugada syndrome 4
3922:Long QT syndrome 8
3917:Brugada syndrome 3
3225:TGF beta receptors
2692:Hypochondrogenesis
2274:External resources
2151:10.1002/humu.20076
1425:. 31 December 2014
1097:hypoparathyroidism
1023:
987:autosomal dominant
965:carbonic anhydrase
582:
547:
357:
347:Hearing impairment
277:hepatosplenomegaly
263:
252:
242:Signs and symptoms
4815:
4814:
4506:
4505:
4468:Short QT syndrome
4393:Short QT syndrome
4369:Short QT syndrome
4280:Episodic ataxia 1
4256:Potassium channel
4250:
4249:
4214:Liddle's syndrome
4033:
4032:
3936:Ocular albinism 2
3893:Episodic ataxia 2
3822:
3821:
3605:
3604:
3289:
3288:
3139:Hypochondroplasia
3115:Pfeiffer syndrome
3091:Pfeiffer syndrome
3043:
3042:
2803:
2802:
2799:
2798:
2663:
2662:
2648:Hypochondroplasia
2594:Maffucci syndrome
2517:
2516:
2319:
2318:
1997:10.1002/jbmr.1712
1990:(12): 2501–2510.
1636:10.1002/pbc.25524
1139:calcium-deficient
948:
947:
885:chloride channel
812:chloride channel
738:Mutations in the
727:Mutations in the
716:Mutations in the
665:
664:
644:Risk of fracture
529:
528:
231:molecular lesions
206:harden, becoming
172:
171:
121:Medical condition
119:
118:
111:
93:
4845:
4512:Chloride channel
4429:Inward-rectifier
4261:
4260:
4044:
4043:
3912:Timothy syndrome
3869:
3868:
3849:
3842:
3835:
3826:
3825:
3802:Osteopetrosis B1
3762:Wilson's disease
3711:Darier's disease
3639:Genetic disorder
3632:
3625:
3618:
3609:
3608:
3159:Donohue syndrome
3119:Crouzon syndrome
3079:Robinow syndrome
3061:
3060:
2857:
2856:
2830:
2823:
2816:
2807:
2806:
2705:sulfation defect
2672:collagen disease
2611:
2610:
2583:enchondromatosis
2539:
2538:
2528:chondrodystrophy
2523:Chondrodysplasia
2497:Opsismodysplasia
2371:
2370:
2346:
2339:
2332:
2323:
2322:
2187:
2186:
2171:
2153:
2125:
2115:
2105:
2068:
2067:
2065:
2064:
2049:
2043:
2042:
2040:
2039:
2030:. Archived from
2024:
2018:
2017:
1999:
1975:
1969:
1957:
1951:
1950:
1939:
1933:
1932:
1921:
1915:
1914:
1912:
1911:
1897:
1888:
1887:
1885:
1884:
1875:. Archived from
1865:
1859:
1858:
1852:
1844:
1816:
1810:
1809:
1807:
1806:
1791:
1780:
1777:
1771:
1768:
1762:
1761:
1759:
1757:
1744:
1720:
1714:
1713:
1695:
1689:
1688:
1676:
1670:
1669:
1663:
1655:
1618:
1612:
1611:
1605:
1597:
1595:
1571:
1565:
1564:
1558:
1550:
1540:
1508:
1502:
1501:
1495:
1487:
1477:
1445:
1434:
1433:
1431:
1430:
1415:
1390:
1389:
1379:
1361:
1337:
1331:
1330:
1315:J Can Dent Assoc
1306:
1300:
1299:
1297:
1296:
1285:
1157:white blood cell
1081:primary disorder
944:(RANK receptor)
765:
764:
677:nerve entrapment
611:Skull sclerosis
597:
596:
383:
376:
369:
360:
356:
342:Craniosynostosis
308:vertebral bodies
291:facial paralysis
236:Albers-Schönberg
187:, also known as
186:
183:
180:
168:
167:
159:Medical genetics
136:
124:
123:
114:
107:
103:
100:
94:
92:
51:
27:
19:
4853:
4852:
4848:
4847:
4846:
4844:
4843:
4842:
4818:
4817:
4816:
4811:
4799:
4772:
4654:
4613:
4546:Thomsen disease
4527:Cystic fibrosis
4502:
4423:
4246:
4187:
4166:Erythromelalgia
4029:
3980:
3864:Calcium channel
3858:
3853:
3823:
3818:
3806:
3790:
3767:
3732:
3681:
3646:
3636:
3606:
3601:
3505:Other/ungrouped
3500:
3481:Osteopetrosis 1
3427:
3342:
3285:
3260:
3197:
3147:Muenke syndrome
3053:
3051:
3039:
3016:
2993:
2970:
2848:
2840:
2834:
2804:
2795:
2762:
2739:
2713:Achondrogenesis
2696:
2680:Achondrogenesis
2659:
2628:
2600:
2564:
2530:
2526:
2513:
2476:Other/ungrouped
2471:
2462:Osteopoikilosis
2443:
2415:
2387:
2364:
2355:
2350:
2320:
2315:
2314:
2269:
2268:
2198:
2184:
2179:
2077:
2072:
2071:
2062:
2060:
2050:
2046:
2037:
2035:
2026:
2025:
2021:
1976:
1972:
1967:Wayback Machine
1958:
1954:
1941:
1940:
1936:
1929:medlineplus.gov
1923:
1922:
1918:
1909:
1907:
1899:
1898:
1891:
1882:
1880:
1867:
1866:
1862:
1846:
1845:
1817:
1813:
1804:
1802:
1796:"osteopetrosis"
1792:
1783:
1778:
1774:
1769:
1765:
1755:
1753:
1721:
1717:
1710:
1696:
1692:
1677:
1673:
1657:
1656:
1619:
1615:
1599:
1598:
1572:
1568:
1552:
1551:
1509:
1505:
1489:
1488:
1446:
1437:
1428:
1426:
1417:
1416:
1393:
1342:"Osteopetrosis"
1338:
1334:
1307:
1303:
1294:
1292:
1287:
1286:
1282:
1277:
1254:
1242:
1240:Recent research
1204:
1190:
1167:corticosteroids
1130:Corticosteroids
1105:
1045:osteopoikilosis
1041:pyknodysostosis
1028:
953:
925:adapter protein
763:
701:
675:due to cranial
600:Characteristic
587:
540:
534:
387:
312:Abnormality of
244:
184:
181:
178:
162:
122:
115:
104:
98:
95:
58:"Osteopetrosis"
52:
50:
40:
28:
17:
12:
11:
5:
4851:
4841:
4840:
4835:
4830:
4813:
4812:
4804:
4801:
4800:
4798:
4797:
4796:
4795:
4782:
4780:
4774:
4773:
4771:
4770:
4769:
4768:
4756:
4755:
4754:
4749:
4733:
4732:
4731:
4725:
4720:
4715:
4703:
4702:
4701:
4689:
4688:
4687:
4682:
4677:
4664:
4662:
4656:
4655:
4653:
4652:
4651:
4650:
4638:
4637:
4636:
4623:
4621:
4615:
4614:
4612:
4611:
4610:
4609:
4597:
4596:
4595:
4583:
4582:
4581:
4569:
4568:
4567:
4565:Dent's disease
4555:
4554:
4553:
4548:
4536:
4535:
4534:
4529:
4516:
4514:
4508:
4507:
4504:
4503:
4501:
4500:
4499:
4498:
4486:
4485:
4484:
4472:
4471:
4470:
4465:
4460:
4448:
4447:
4446:
4433:
4431:
4425:
4424:
4422:
4421:
4420:
4419:
4407:
4406:
4405:
4400:
4395:
4390:
4385:
4373:
4372:
4371:
4359:
4358:
4357:
4345:
4344:
4343:
4331:
4330:
4329:
4324:
4312:
4311:
4310:
4298:
4297:
4296:
4284:
4283:
4282:
4269:
4267:
4258:
4252:
4251:
4248:
4247:
4245:
4244:
4243:
4242:
4218:
4217:
4216:
4197:
4195:
4189:
4188:
4186:
4185:
4184:
4183:
4178:
4173:
4168:
4156:
4155:
4154:
4149:
4137:
4136:
4135:
4123:
4122:
4121:
4116:
4111:
4106:
4094:
4093:
4092:
4087:
4075:
4074:
4073:
4068:
4063:
4050:
4048:
4041:
4039:Sodium channel
4035:
4034:
4031:
4030:
4028:
4027:
4026:
4025:
4020:
4008:
4007:
4006:
4001:
3988:
3986:
3982:
3981:
3979:
3978:
3977:
3976:
3964:
3963:
3962:
3957:
3945:
3944:
3943:
3938:
3926:
3925:
3924:
3919:
3914:
3902:
3901:
3900:
3895:
3890:
3877:
3875:
3866:
3860:
3859:
3852:
3851:
3844:
3837:
3829:
3820:
3819:
3811:
3808:
3807:
3805:
3804:
3798:
3796:
3792:
3791:
3789:
3788:
3775:
3773:
3769:
3768:
3766:
3765:
3753:
3750:Menkes disease
3740:
3738:
3734:
3733:
3731:
3730:
3718:
3702:
3699:Brody myopathy
3689:
3687:
3683:
3682:
3680:
3679:
3667:
3654:
3652:
3648:
3647:
3635:
3634:
3627:
3620:
3612:
3603:
3602:
3600:
3599:
3594:
3590:
3589:
3577:
3565:
3540:
3539:
3534:
3529:
3519:
3518:
3508:
3506:
3502:
3501:
3499:
3498:
3485:
3484:
3473:Worth syndrome
3464:
3452:
3435:
3433:
3432:Lipid receptor
3429:
3428:
3426:
3425:
3413:
3401:
3389:
3377:
3365:
3352:
3350:
3344:
3343:
3341:
3340:
3329:
3328:
3316:
3313:Laron syndrome
3299:
3297:
3291:
3290:
3287:
3286:
3284:
3283:
3270:
3268:
3262:
3261:
3259:
3258:
3244:
3221:
3220:
3207:
3205:
3199:
3198:
3196:
3195:
3188:KIT Piebaldism
3179:
3167:
3161:
3150:
3135:Achondroplasia
3126:
3107:Apert syndrome
3098:
3082:
3069:
3067:
3058:
3045:
3044:
3041:
3040:
3038:
3037:
3024:
3022:
3018:
3017:
3015:
3014:
3001:
2999:
2995:
2994:
2992:
2991:
2978:
2976:
2972:
2971:
2969:
2968:
2956:
2944:
2924:
2912:
2896:
2876:
2863:
2861:
2854:
2842:
2841:
2833:
2832:
2825:
2818:
2810:
2801:
2800:
2797:
2796:
2794:
2793:
2788:
2787:
2786:
2776:
2770:
2768:
2767:Other dwarfism
2764:
2763:
2761:
2760:
2755:
2749:
2747:
2741:
2740:
2738:
2737:
2732:
2727:
2722:
2721:
2720:
2709:
2707:
2698:
2697:
2695:
2694:
2689:
2688:
2687:
2676:
2674:
2665:
2664:
2661:
2660:
2658:
2657:
2652:
2651:
2650:
2643:Achondroplasia
2639:
2637:
2630:
2629:
2627:
2626:
2620:
2618:
2608:
2602:
2601:
2599:
2598:
2597:
2596:
2591:
2589:Ollier disease
2578:
2576:
2566:
2565:
2563:
2562:
2561:
2560:
2547:
2545:
2543:Osteochondroma
2536:
2519:
2518:
2515:
2514:
2512:
2511:
2510:
2509:
2499:
2494:
2493:
2492:
2479:
2477:
2473:
2472:
2470:
2469:
2464:
2459:
2457:Raine syndrome
2453:
2451:
2449:Osteosclerosis
2445:
2444:
2442:
2441:
2436:
2431:
2425:
2423:
2417:
2416:
2414:
2413:
2408:
2403:
2397:
2395:
2389:
2388:
2386:
2385:
2379:
2377:
2368:
2366:osteodystrophy
2361:Osteodysplasia
2357:
2356:
2349:
2348:
2341:
2334:
2326:
2317:
2316:
2313:
2312:
2301:
2290:
2278:
2277:
2275:
2271:
2270:
2267:
2266:
2255:
2244:
2230:
2215:
2199:
2194:
2193:
2191:
2190:Classification
2183:
2182:External links
2180:
2178:
2177:
2172:
2144:(3): 225–235.
2137:Human Mutation
2126:
2078:
2076:
2073:
2070:
2069:
2044:
2019:
1970:
1952:
1934:
1916:
1889:
1860:
1827:(7): 1865–82.
1811:
1781:
1772:
1763:
1715:
1708:
1690:
1671:
1613:
1566:
1503:
1435:
1391:
1332:
1301:
1279:
1278:
1276:
1273:
1272:
1271:
1265:
1260:
1253:
1250:
1241:
1238:
1234:Chuvash people
1203:
1200:
1189:
1186:
1171:
1170:
1163:Erythropoietin
1160:
1153:
1104:
1101:
1032:osteosclerosis
1027:
1024:
952:
949:
946:
945:
937:
932:
928:
927:
917:
912:
908:
907:
896:
891:
887:
886:
880:
875:
871:
870:
858:
853:
849:
848:
841:
836:
832:
831:
823:
818:
814:
813:
805:
800:
796:
795:
787:
782:
778:
777:
774:
769:
762:
761:Gene variation
759:
754:
753:
750:
747:
746:osteopetrosis.
736:
735:osteopetrosis.
725:
700:
697:
681:osteoarthritis
663:
662:
659:
656:
652:
651:
648:
645:
641:
640:
637:
634:
630:
629:
626:
623:
619:
618:
615:
612:
608:
607:
604:
601:
586:
583:
536:Main article:
533:
530:
527:
526:
523:
520:
517:
514:
511:
505:
504:
501:
498:
495:
492:
489:
483:
482:
479:
476:
473:
470:
467:
457:
456:
453:
452:unaffected
450:
447:
444:
441:
435:
434:
431:
428:
425:
422:
419:
413:
412:
409:
404:
399:
394:
389:
386:
385:
378:
371:
363:
355:
354:
349:
344:
339:
331:
326:
319:
316:
310:
304:
298:
283:
273:
270:Stunted growth
243:
240:
223:osteosclerosis
170:
169:
156:
150:
149:
138:
137:
129:
128:
120:
117:
116:
31:
29:
22:
15:
9:
6:
4:
3:
2:
4850:
4839:
4836:
4834:
4833:Rare diseases
4831:
4829:
4826:
4825:
4823:
4810:
4809:
4802:
4794:
4791:
4790:
4789:
4788:
4784:
4783:
4781:
4779:
4775:
4767:
4764:
4763:
4762:
4761:
4757:
4753:
4750:
4748:
4745:
4744:
4743:
4742:
4738:
4734:
4729:
4726:
4724:
4721:
4719:
4716:
4714:
4711:
4710:
4709:
4708:
4704:
4700:
4697:
4696:
4695:
4694:
4690:
4686:
4683:
4681:
4678:
4676:
4673:
4672:
4671:
4670:
4666:
4665:
4663:
4661:
4657:
4649:
4646:
4645:
4644:
4643:
4639:
4635:
4632:
4631:
4630:
4629:
4625:
4624:
4622:
4620:
4616:
4608:
4605:
4604:
4603:
4602:
4598:
4594:
4591:
4590:
4589:
4588:
4584:
4580:
4577:
4576:
4575:
4574:
4570:
4566:
4563:
4562:
4561:
4560:
4556:
4552:
4549:
4547:
4544:
4543:
4542:
4541:
4537:
4533:
4530:
4528:
4525:
4524:
4523:
4522:
4518:
4517:
4515:
4513:
4509:
4497:
4494:
4493:
4492:
4491:
4487:
4483:
4480:
4479:
4478:
4477:
4473:
4469:
4466:
4464:
4461:
4459:
4456:
4455:
4454:
4453:
4449:
4445:
4442:
4441:
4440:
4439:
4435:
4434:
4432:
4430:
4426:
4418:
4415:
4414:
4413:
4412:
4408:
4404:
4401:
4399:
4396:
4394:
4391:
4389:
4386:
4384:
4381:
4380:
4379:
4378:
4374:
4370:
4367:
4366:
4365:
4364:
4360:
4356:
4353:
4352:
4351:
4350:
4346:
4342:
4339:
4338:
4337:
4336:
4332:
4328:
4325:
4323:
4320:
4319:
4318:
4317:
4313:
4309:
4306:
4305:
4304:
4303:
4299:
4295:
4292:
4291:
4290:
4289:
4285:
4281:
4278:
4277:
4276:
4275:
4271:
4270:
4268:
4266:
4265:Voltage-gated
4262:
4259:
4257:
4253:
4241:
4238:
4237:
4236:
4235:
4230:
4229:
4224:
4223:
4219:
4215:
4212:
4211:
4210:
4209:
4204:
4203:
4199:
4198:
4196:
4194:
4190:
4182:
4179:
4177:
4174:
4172:
4169:
4167:
4164:
4163:
4162:
4161:
4157:
4153:
4150:
4148:
4145:
4144:
4143:
4142:
4138:
4134:
4131:
4130:
4129:
4128:
4124:
4120:
4117:
4115:
4112:
4110:
4107:
4105:
4102:
4101:
4100:
4099:
4095:
4091:
4088:
4086:
4083:
4082:
4081:
4080:
4076:
4072:
4069:
4067:
4064:
4062:
4059:
4058:
4057:
4056:
4052:
4051:
4049:
4047:Voltage-gated
4045:
4042:
4040:
4036:
4024:
4021:
4019:
4016:
4015:
4014:
4013:
4009:
4005:
4002:
4000:
3997:
3996:
3995:
3994:
3990:
3989:
3987:
3983:
3975:
3972:
3971:
3970:
3969:
3965:
3961:
3958:
3956:
3953:
3952:
3951:
3950:
3946:
3942:
3939:
3937:
3934:
3933:
3932:
3931:
3927:
3923:
3920:
3918:
3915:
3913:
3910:
3909:
3908:
3907:
3903:
3899:
3896:
3894:
3891:
3889:
3886:
3885:
3884:
3883:
3879:
3878:
3876:
3874:
3873:Voltage-gated
3870:
3867:
3865:
3861:
3857:
3850:
3845:
3843:
3838:
3836:
3831:
3830:
3827:
3817:
3816:
3809:
3803:
3800:
3799:
3797:
3793:
3786:
3782:
3781:
3777:
3776:
3774:
3770:
3763:
3759:
3758:
3754:
3751:
3747:
3746:
3742:
3741:
3739:
3735:
3728:
3724:
3723:
3719:
3716:
3712:
3708:
3707:
3703:
3700:
3696:
3695:
3691:
3690:
3688:
3684:
3677:
3673:
3672:
3668:
3665:
3661:
3660:
3656:
3655:
3653:
3649:
3644:
3640:
3633:
3628:
3626:
3621:
3619:
3614:
3613:
3610:
3598:
3595:
3592:
3591:
3587:
3583:
3582:
3578:
3575:
3571:
3570:
3566:
3563:
3559:
3558:
3554:
3553:
3552:
3550:
3546:
3545:
3538:
3535:
3533:
3530:
3528:
3524:
3521:
3520:
3517:
3513:
3510:
3509:
3507:
3503:
3496:
3492:
3491:
3487:
3486:
3482:
3478:
3474:
3470:
3469:
3465:
3462:
3458:
3457:
3453:
3450:
3446:
3445:
3440:
3437:
3436:
3434:
3430:
3423:
3419:
3418:
3414:
3411:
3407:
3406:
3402:
3399:
3395:
3394:
3390:
3387:
3383:
3382:
3378:
3375:
3371:
3370:
3366:
3363:
3359:
3358:
3354:
3353:
3351:
3349:
3345:
3338:
3334:
3331:
3330:
3326:
3322:
3321:
3317:
3314:
3310:
3309:
3304:
3301:
3300:
3298:
3296:
3292:
3281:
3277:
3276:
3272:
3271:
3269:
3267:
3263:
3256:
3252:
3248:
3245:
3242:
3238:
3234:
3230:
3226:
3223:
3222:
3218:
3214:
3213:
3209:
3208:
3206:
3204:
3200:
3193:
3189:
3185:
3184:
3180:
3177:
3173:
3172:
3168:
3165:
3162:
3160:
3156:
3155:
3151:
3148:
3144:
3140:
3136:
3132:
3131:
3127:
3124:
3120:
3116:
3112:
3108:
3104:
3103:
3099:
3096:
3092:
3088:
3087:
3083:
3080:
3076:
3075:
3071:
3070:
3068:
3066:
3062:
3059:
3056:
3055:growth factor
3050:
3046:
3035:
3031:
3030:
3026:
3025:
3023:
3019:
3012:
3008:
3007:
3003:
3002:
3000:
2996:
2989:
2985:
2984:
2980:
2979:
2977:
2973:
2966:
2962:
2961:
2957:
2954:
2950:
2949:
2945:
2942:
2938:
2934:
2933:ABCD syndrome
2930:
2929:
2925:
2922:
2918:
2917:
2913:
2910:
2906:
2902:
2901:
2897:
2894:
2890:
2886:
2882:
2881:
2877:
2874:
2870:
2869:
2865:
2864:
2862:
2858:
2855:
2852:
2847:
2843:
2838:
2831:
2826:
2824:
2819:
2817:
2812:
2811:
2808:
2792:
2789:
2785:
2782:
2781:
2780:
2777:
2775:
2772:
2771:
2769:
2765:
2759:
2756:
2754:
2751:
2750:
2748:
2746:
2742:
2736:
2733:
2731:
2728:
2726:
2723:
2719:
2716:
2715:
2714:
2711:
2710:
2708:
2706:
2703:
2699:
2693:
2690:
2686:
2683:
2682:
2681:
2678:
2677:
2675:
2673:
2670:
2666:
2656:
2653:
2649:
2646:
2645:
2644:
2641:
2640:
2638:
2635:
2631:
2625:
2622:
2621:
2619:
2616:
2612:
2609:
2607:
2603:
2595:
2592:
2590:
2587:
2586:
2585:
2584:
2580:
2579:
2577:
2575:
2571:
2567:
2559:
2556:
2555:
2554:
2553:
2549:
2548:
2546:
2544:
2540:
2537:
2534:
2529:
2524:
2520:
2508:
2505:
2504:
2503:
2500:
2498:
2495:
2491:
2488:
2487:
2486:
2485:
2481:
2480:
2478:
2474:
2468:
2467:Osteopetrosis
2465:
2463:
2460:
2458:
2455:
2454:
2452:
2450:
2446:
2440:
2437:
2435:
2432:
2430:
2427:
2426:
2424:
2422:
2418:
2412:
2409:
2407:
2404:
2402:
2399:
2398:
2396:
2394:
2390:
2384:
2381:
2380:
2378:
2376:
2372:
2369:
2367:
2362:
2358:
2354:
2347:
2342:
2340:
2335:
2333:
2328:
2327:
2324:
2311:
2307:
2306:
2302:
2300:
2299:Osteopetrosis
2296:
2295:
2291:
2289:
2285:
2284:
2280:
2279:
2276:
2272:
2265:
2261:
2260:
2256:
2254:
2250:
2249:
2245:
2243:
2240:
2236:
2235:
2231:
2229:
2225:
2224:
2220:
2216:
2214:
2210:
2209:
2205:
2201:
2200:
2197:
2192:
2188:
2176:
2173:
2169:
2165:
2161:
2157:
2152:
2147:
2143:
2139:
2138:
2133:
2127:
2123:
2119:
2114:
2109:
2104:
2099:
2095:
2091:
2090:
2085:
2080:
2079:
2059:
2055:
2048:
2034:on 2021-11-23
2033:
2029:
2023:
2015:
2011:
2007:
2003:
1998:
1993:
1989:
1985:
1981:
1974:
1968:
1964:
1961:
1956:
1948:
1947:www.dnalab.ru
1944:
1938:
1930:
1926:
1920:
1906:
1902:
1896:
1894:
1879:on 2017-12-13
1878:
1874:
1870:
1864:
1856:
1850:
1842:
1838:
1834:
1830:
1826:
1822:
1821:RadioGraphics
1815:
1801:
1797:
1790:
1788:
1786:
1776:
1767:
1752:
1748:
1743:
1738:
1734:
1730:
1726:
1719:
1711:
1709:9780124160156
1705:
1701:
1694:
1686:
1682:
1675:
1667:
1661:
1653:
1649:
1645:
1641:
1637:
1633:
1630:(9): 1645–9.
1629:
1625:
1617:
1609:
1603:
1594:
1589:
1586:(1): 237–43.
1585:
1581:
1577:
1570:
1562:
1556:
1548:
1544:
1539:
1534:
1530:
1526:
1522:
1518:
1514:
1507:
1499:
1493:
1485:
1481:
1476:
1471:
1467:
1463:
1459:
1455:
1451:
1444:
1442:
1440:
1424:
1420:
1414:
1412:
1410:
1408:
1406:
1404:
1402:
1400:
1398:
1396:
1387:
1383:
1378:
1373:
1369:
1365:
1360:
1355:
1351:
1347:
1343:
1336:
1328:
1324:
1321:(9): 839–43.
1320:
1316:
1312:
1305:
1290:
1284:
1280:
1269:
1266:
1264:
1261:
1259:
1256:
1255:
1252:Notable cases
1249:
1246:
1237:
1235:
1231:
1226:
1224:
1219:
1217:
1213:
1209:
1208:United States
1199:
1196:
1185:
1183:
1177:
1175:
1168:
1164:
1161:
1158:
1154:
1151:
1147:
1146:
1145:
1142:
1140:
1135:
1134:osteomyelitis
1131:
1127:
1123:
1122:Erythropoetin
1119:
1114:
1110:
1100:
1098:
1094:
1090:
1089:osteomyelitis
1086:
1082:
1078:
1077:myelofibrosis
1074:
1070:
1066:
1062:
1058:
1054:
1050:
1046:
1042:
1037:
1033:
1019:
1015:
1011:
1007:
1005:
1004:
999:
994:
993:
988:
984:
983:
977:
975:
970:
966:
961:
958:
943:
942:
938:
936:
933:
930:
929:
926:
923:
922:
918:
916:
913:
910:
909:
905:
902:
901:
897:
895:
892:
889:
888:
884:
881:
879:
876:
873:
872:
868:
864:
863:
859:
857:
854:
851:
850:
847:
846:
842:
840:
837:
834:
833:
829:
828:
824:
822:
819:
816:
815:
811:
810:
806:
804:
801:
798:
797:
793:
792:
788:
786:
783:
780:
779:
775:
773:
770:
767:
766:
758:
751:
748:
745:
741:
737:
734:
730:
726:
723:
719:
715:
714:
713:
711:
705:
696:
694:
690:
689:osteomyelitis
686:
682:
678:
674:
670:
660:
657:
654:
653:
649:
646:
643:
642:
638:
636:No endobones
635:
632:
631:
627:
624:
621:
620:
616:
613:
610:
609:
605:
602:
599:
598:
595:
593:
579:
575:
573:
568:
565:
561:
557:
553:
544:
539:
524:
521:
518:
515:
512:
510:
507:
506:
503:brown tumors
502:
499:
496:
493:
490:
488:
485:
484:
480:
477:
474:
471:
468:
466:
462:
459:
458:
454:
451:
448:
445:
442:
440:
439:Osteopetrosis
437:
436:
432:
429:
426:
423:
420:
418:
415:
414:
410:
408:
405:
403:
400:
398:
395:
393:
390:
384:
379:
377:
372:
370:
365:
364:
362:
361:
353:
350:
348:
345:
343:
340:
338:
335:
334:Cranial nerve
332:
330:
327:
324:
320:
317:
315:
311:
309:
305:
303:
299:
296:
292:
288:
284:
282:
278:
274:
271:
268:
267:
266:
259:
255:
248:
239:
237:
232:
228:
224:
219:
217:
213:
209:
205:
201:
198:
194:
190:
176:
175:Osteopetrosis
166:
160:
157:
155:
151:
147:
143:
139:
135:
130:
125:
113:
110:
102:
91:
88:
84:
81:
77:
74:
70:
67:
63:
60: –
59:
55:
54:Find sources:
48:
44:
38:
37:
32:This article
30:
26:
21:
20:
4808:ion channels
4805:
4785:
4758:
4735:
4705:
4691:
4667:
4640:
4626:
4599:
4585:
4578:
4571:
4557:
4538:
4519:
4488:
4474:
4450:
4436:
4409:
4375:
4361:
4347:
4333:
4314:
4300:
4286:
4272:
4232:
4226:
4220:
4206:
4200:
4158:
4139:
4125:
4096:
4077:
4053:
4010:
3991:
3985:Ligand gated
3966:
3947:
3928:
3904:
3880:
3812:
3801:
3778:
3755:
3743:
3720:
3704:
3692:
3669:
3657:
3641:, membrane:
3579:
3567:
3555:
3542:
3541:
3488:
3480:
3466:
3454:
3442:
3415:
3403:
3391:
3379:
3367:
3355:
3348:TNF receptor
3318:
3306:
3273:
3210:
3181:
3169:
3152:
3128:
3100:
3084:
3072:
3027:
3004:
2981:
2958:
2946:
2926:
2914:
2898:
2878:
2866:
2839:deficiencies
2581:
2550:
2482:
2466:
2303:
2292:
2281:
2257:
2246:
2232:
2217:
2202:
2141:
2135:
2093:
2087:
2075:Bibliography
2061:. Retrieved
2057:
2047:
2036:. Retrieved
2032:the original
2022:
1987:
1983:
1973:
1955:
1946:
1937:
1928:
1919:
1908:. Retrieved
1904:
1881:. Retrieved
1877:the original
1872:
1863:
1849:cite journal
1824:
1820:
1814:
1803:. Retrieved
1799:
1775:
1766:
1754:. Retrieved
1735:(4): 221–6.
1732:
1728:
1718:
1699:
1693:
1684:
1674:
1660:cite journal
1627:
1623:
1616:
1602:cite journal
1583:
1579:
1569:
1555:cite journal
1523:(2): 270–6.
1520:
1516:
1506:
1492:cite journal
1457:
1453:
1427:. Retrieved
1422:
1349:
1345:
1335:
1318:
1314:
1304:
1293:. Retrieved
1291:. Cda-adc.ca
1283:
1258:Laurel Burch
1247:
1243:
1227:
1220:
1205:
1191:
1178:
1172:
1143:
1106:
1029:
1012:
1008:
1001:
990:
980:
978:
962:
954:
939:
919:
898:
882:
860:
843:
825:
807:
789:
755:
706:
702:
673:neuropathies
666:
588:
569:
560:radiographic
552:pancytopenia
548:
461:Osteomalacia
438:
352:Hypocalcemia
264:
253:
220:
216:osteomalacia
212:osteoporosis
202:whereby the
192:
188:
177:, literally
174:
173:
105:
99:October 2016
96:
86:
79:
72:
65:
53:
41:Please help
36:verification
33:
4619:TRP channel
2849:(including
2574:enchondroma
2531:(including
1685:Radiopaedia
1148:Vitamin D (
1113:bone marrow
957:osteoblasts
742:gene cause
710:osteoclasts
522:unaffected
516:unaffected
513:unaffected
481:soft bones
446:unaffected
443:unaffected
430:unaffected
424:unaffected
421:unaffected
227:osteoclasts
4822:Categories
4806:See also:
3052:(including
2393:Metaphysis
2294:Patient UK
2259:DiseasesDB
2063:2007-12-23
2038:2021-09-01
1910:2017-12-13
1883:2017-12-13
1805:2017-12-13
1756:August 19,
1429:2017-12-13
1295:2013-10-17
1275:References
1270:(possibly)
1216:Costa Rica
1202:Prevalence
1150:calcitriol
1069:carcinomas
951:Mechanisms
669:bone pains
661:Very high
494:decreased
472:decreased
469:decreased
417:Osteopenia
388:Condition
325:morphology
302:morphology
182:stone bone
69:newspapers
3813:see also
3645:disorders
3405:TNFRSF13B
3393:TNFRSF13C
3369:TNFRSF13B
2570:Chondroma
2421:Epiphysis
2375:Diaphysis
2283:eMedicine
2006:1523-4681
1460:: 11–16.
1368:1750-1172
1230:Chuvashia
1188:Prognosis
1182:aesthetic
1118:vitamin D
1103:Treatment
1026:Diagnosis
941:TNFRSF11A
904:ubiquitin
794:receptor
708:abnormal
592:scoliosis
556:prognosis
500:elevated
497:elevated
491:elevated
478:elevated
475:elevated
449:elevated
411:Comments
397:Phosphate
337:paralysis
329:Bone pain
323:epiphysis
287:blindness
197:inherited
154:Specialty
4660:Connexin
3593:See also
3523:Integrin
3357:TNFRSF1A
3295:JAK-STAT
3229:Endoglin
2533:dwarfism
2305:Orphanet
2288:med/1692
2168:31788054
2160:15300850
2122:30837952
2014:22836362
1963:Archived
1841:22084176
1751:22499339
1652:11287381
1644:25820806
1547:26012570
1484:28326337
1454:Bone Rep
1386:19232111
1327:18028760
998:X-linked
744:X-linked
693:mandible
606:Type II
295:deafness
200:disorder
4090:GEFS+ 1
4066:GEFS+ 2
3949:CACNA1S
3930:CACNA1F
3906:CACNA1C
3882:CACNA1A
3780:ATP13A2
3516:AGM3, 6
3417:TNFRSF6
3381:TNFRSF5
3021:Class F
2998:Class C
2975:Class B
2860:Class A
2851:hormone
2718:type 1B
2702:SLC26A2
2253:D010022
2113:6389615
1538:4497967
1475:4926827
1377:2654865
1263:Lil Bub
1212:Denmark
921:PLEKHM1
906:ligase
830:ATPase
691:of the
658:Normal
633:Pelvis
603:Type I
465:rickets
427:normal
392:Calcium
144:of the
83:scholar
4642:TRPML1
4601:CLCNKB
4490:KCNJ18
4476:KCNJ11
4234:SCNN1G
4228:SCNN1B
4222:SCNN1A
4208:SCNN1G
4202:SCNN1B
3968:CACNB2
3941:CSNB2A
3815:ATPase
3722:ATP2C1
3706:ATP2A2
3694:ATP2A1
3671:ATP1A3
3659:ATP1A2
3643:ATPase
3569:BMPR1A
3320:CSF2RA
3275:GUCY2D
3251:TGFBR2
3247:TGFBR1
2960:PTGER2
2685:type 2
2669:COL2A1
2242:259700
2239:166600
2228:756.52
2166:
2158:
2120:
2110:
2096:: 85.
2012:
2004:
1839:
1749:
1706:
1650:
1642:
1545:
1535:
1482:
1472:
1384:
1374:
1366:
1325:
1223:Brazil
1126:anemia
992:TCIRG1
935:612301
931:OPTB7
915:611497
911:OPTB6
894:259720
890:OPTB5
878:611490
874:OPTB4
856:259730
852:OPTB3
839:259710
835:OPTB2
827:TCIRG1
821:259700
817:OPTB1
803:166600
799:OPTA2
785:607634
781:OPTA1
729:TCIRG1
699:Causes
683:, and
622:Spine
293:, and
208:denser
161:
146:pelvis
85:
78:
71:
64:
56:
4778:Porin
4634:FSGS2
4628:TRPC6
4587:BEST1
4573:CLCN7
4559:CLCN5
4540:CLCN1
4482:TNDM3
4452:KCNJ2
4438:KCNJ1
4417:BFNS1
4411:KCNQ2
4377:KCNQ1
4363:KCNH2
4349:KCNE3
4335:KCNE2
4316:KCNE1
4302:KCNC3
4288:KCNA5
4274:KCNA1
4160:SCN9A
4141:SCN5A
4127:SCN4B
4098:SCN4A
4079:SCN1B
4055:SCN1A
4023:ARVD2
4018:CPVT1
3795:Other
3772:ATP13
3757:ATP7B
3745:ATP7A
3581:IL2RG
3557:PTCH1
3410:CVID2
3398:CVID4
3237:SMAD4
3233:Alk-1
3212:AMHR2
3171:NTRK1
3130:FGFR3
3102:FGFR2
3086:FGFR1
2983:PTH1R
2948:AVPR2
2928:EDNRB
2916:GnRHR
2880:LHCGR
2634:FGFR3
2615:FGFR2
2213:Q78.2
2164:S2CID
1648:S2CID
1517:Blood
1352:: 5.
1003:IKBKG
982:CLCN7
900:OSTM1
883:CLCN7
845:RANKL
809:CLCN7
776:Gene
768:Name
740:IKBKG
718:CLCN7
650:High
204:bones
142:X-ray
90:JSTOR
76:books
4787:AQP2
4760:GJB6
4741:GJB4
4737:GJB3
4707:GJB2
4693:GJB1
4669:GJA1
4521:CFTR
4012:RYR2
3993:RYR1
3737:ATP7
3686:ATP2
3651:ATP1
3544:EDAR
3527:LAD1
3490:LDLR
3468:LRP5
3456:LRP4
3444:LRP2
3203:STPK
3154:INSR
3074:ROR2
3029:FZD4
3006:CASR
2900:FSHR
2868:TSHR
2484:FLNB
2264:9377
2248:MeSH
2234:OMIM
2223:9-CM
2156:PMID
2118:PMID
2010:PMID
2002:ISSN
1855:link
1837:PMID
1758:2016
1747:PMID
1704:ISBN
1666:link
1640:PMID
1608:link
1561:link
1543:PMID
1498:link
1480:PMID
1382:PMID
1364:ISSN
1323:PMID
1214:and
791:LRP5
772:OMIM
647:Low
463:and
382:edit
375:talk
368:view
62:news
3439:LRP
3333:MPL
3183:KIT
3065:RTK
2219:ICD
2204:ICD
2146:doi
2108:PMC
2098:doi
1992:doi
1829:doi
1737:doi
1632:doi
1588:doi
1533:PMC
1525:doi
1521:126
1470:PMC
1462:doi
1372:PMC
1354:doi
1051:),
969:CA2
862:CA2
191:or
45:by
4824::
3713:,
3551:)
3525::
3514::
3479:,
3475:,
3441::
3308:GH
3305::
3266:GC
3227::
3190:,
3145:,
3141:,
3137:,
3121:,
3117:,
3113:,
3109:,
3093:,
2939:,
2935:,
2907:,
2891:,
2887:,
2310:53
2308::
2297::
2286::
2262::
2251::
2237::
2226::
2211::
2208:10
2162:.
2154:.
2142:24
2140:.
2134:.
2116:.
2106:.
2094:10
2092:.
2086:.
2056:.
2008:.
2000:.
1988:27
1986:.
1982:.
1945:.
1927:.
1903:.
1892:^
1871:.
1851:}}
1847:{{
1835:.
1825:31
1823:.
1798:.
1784:^
1745:.
1733:49
1731:.
1727:.
1683:.
1662:}}
1658:{{
1646:.
1638:.
1628:62
1626:.
1604:}}
1600:{{
1584:48
1582:.
1578:.
1557:}}
1553:{{
1541:.
1531:.
1519:.
1515:.
1494:}}
1490:{{
1478:.
1468:.
1456:.
1452:.
1438:^
1421:.
1394:^
1380:.
1370:.
1362:.
1348:.
1344:.
1319:73
1317:.
1313:.
1236:.
1128:.
1099:.
1091:,
1075:,
869:)
695:.
679:,
289:,
238:.
4739:/
4730:)
4231:/
4225:/
4205:/
3848:e
3841:t
3834:v
3787:)
3783:(
3764:)
3760:(
3752:)
3748:(
3729:)
3725:(
3717:)
3709:(
3701:)
3697:(
3678:)
3674:(
3666:)
3662:(
3631:e
3624:t
3617:v
3588:)
3584:(
3576:)
3572:(
3564:)
3560:(
3547:(
3497:)
3493:(
3483:)
3471:(
3463:)
3459:(
3451:)
3447:(
3424:)
3420:(
3412:)
3408:(
3400:)
3396:(
3388:)
3384:(
3376:)
3372:(
3364:)
3360:(
3339:)
3335:(
3327:)
3323:(
3315:)
3311:(
3282:)
3278:(
3257:)
3253:(
3249:/
3243:)
3239:(
3235:/
3231:/
3219:)
3215:(
3194:)
3186:(
3178:)
3174:(
3166:)
3157:(
3149:)
3133:(
3125:)
3105:(
3097:)
3089:(
3081:)
3077:(
3057:)
3036:)
3032:(
3013:)
3009:(
2990:)
2986:(
2967:)
2963:(
2955:)
2951:(
2943:)
2931:(
2923:)
2919:(
2911:)
2903:(
2895:)
2883:(
2875:)
2871:(
2853:)
2829:e
2822:t
2815:v
2636::
2617::
2572:/
2535:)
2525:/
2363:/
2345:e
2338:t
2331:v
2221:-
2206:-
2196:D
2170:.
2148::
2124:.
2100::
2066:.
2041:.
2016:.
1994::
1949:.
1931:.
1913:.
1886:.
1857:)
1843:.
1831::
1808:.
1760:.
1739::
1712:.
1687:.
1668:)
1654:.
1634::
1610:)
1596:.
1590::
1563:)
1549:.
1527::
1500:)
1486:.
1464::
1458:4
1432:.
1388:.
1356::
1350:4
1329:.
1298:.
1079:(
1047:(
865:(
590:(
185:'
179:'
112:)
106:(
101:)
97:(
87:·
80:·
73:·
66:·
39:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
