238:. In the 281 persons followed by the Bloom Syndrome Registry, 145 persons (51.6%) have been diagnosed with a malignant neoplasm, and there have been 227 malignancies. The types of cancer and the anatomic sites at which they develop resemble the cancers that affect persons in the general population. The age of diagnosis for these cancers is earlier than for the same cancer in normal persons, and many persons with Bloom syndrome have been diagnosed with multiple cancers. The average life span is approximately 27 years. The most common cause of death in Bloom syndrome is from cancer. Other complications of the disorder include
307:. As in other autosomal recessive conditions, the parents of an individual with Bloom syndrome do not necessarily exhibit any features of the syndrome. The mutations in BLM associated with Bloom syndrome are nulls and missense mutations that are catalytically inactive. The cells from persons with Bloom syndrome exhibit a striking genomic instability that is characterized by hyper-recombination and hyper-mutation. Human BLM cells are sensitive to DNA damaging agents such as UV and methyl methanesulfonate, indicating deficient repair capability. At the level of the chromosomes, the rate of
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454:(the two DNA molecules that are produced by the DNA replication process); and there are increases in chromosome breakage and rearrangements compared to persons who do not have Bloom's syndrome. Direct connections between the molecular processes in which BLM operates and the chromosomes themselves are under investigation. The relationships between molecular defects in Bloom syndrome cells, the chromosome mutations that accumulate in somatic cells (the cells of the body), and the many clinical features seen in Bloom syndrome are also areas of intense research.
56:
149:, that is characterized by dilated blood vessels at the skin's surface. The rash commonly also affects the backs of the hands and neck, and it can develop on any other sun-exposed areas of the skin. The rash is variably expressed, being present in a majority but not all persons with Bloom syndrome, and it is on average less severe in females than in males. Moreover, the sun sensitivity can resolve in adulthood. There are other dermatologic changes, including
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32:
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The Bloom's
Syndrome Registry lists 283 individuals reported to have this rare disorder (as of 2020), collected from the time it was first recognized in 1954. The registry was developed as a surveillance mechanism to observe the effects of cancer in the patients, which has shown 122 individuals have
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in affected individuals. The cancer predisposition is characterized by 1) broad spectrum, including leukemias, lymphomas, and carcinomas, 2) early age of onset relative to the same cancer in the general population, and 3) multiplicity, that is, synchronous or metachronous cancers. There is at least
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The BLM helicase is a member of a protein complex with topoisomerase III alpha, RMI1 and RMI2, also known as BTRR, Bloom
Syndrome complex or the dissolvasome. Disruption of the proper assembly of the Bloom Syndrome complex leads to genome stability, genetic dependence on cellular nucleases GEN1 and
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at nucleoli DNA helicases are enzymes that attach to DNA and temporarily unravel the double helix of the DNA molecule. DNA helicases function in DNA replication and DNA repair. BLM very likely functions in DNA replication, as cells from persons with Bloom syndrome exhibit multiple defects in DNA
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in Bloom's syndrome is approximately 10 fold higher than normal and quadriradial figures, which are the cytologic manifestations of crossing-over between homologous chromosome, are highly elevated. Other chromosome manifestations include chromatid breaks and gaps, telomere associations, and
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is important in maintaining the stability of the DNA during the replication process. Lack of BLM protein or protein activity leads to an increase in mutations; however, the molecular mechanism(s) by which BLM maintains stability of the chromosomes is still a very active area of research.
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and middle ear infections in persons with the syndrome. Infants can exhibit frequent gastrointestinal upsets, with reflux, vomiting, and diarrhea, and there is a remarkable lack in interest in food. There are endocrine disturbances, particularly abnormalities of
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The most prominent feature of Bloom syndrome is proportional small size. The small size is apparent in utero. At birth, neonates exhibit rostral to caudal lengths, head circumferences, and birth weights that are typically below the third percentile.
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Bloom syndrome is an extremely rare disorder in most populations and the frequency of the disease has not been measured in most populations. However, the disorder is relatively more common amongst people of
Central and Eastern European
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The second most commonly noted feature is a rash on the face that develops early in life as a result of sun exposure. The facial rash appears most prominently on the cheeks, nose, and around the lips. It is described as
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1979:
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one person with Bloom syndrome who had five independent primary cancers. Persons with Bloom syndrome may develop cancer at any age. The average age of cancer diagnoses in the cohort is approximately 26 years old.
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Hodson, Charlotte; Low, Jason K. K.; van Twest, Sylvie; Jones, Samuel E.; Swuec, Paolo; Murphy, Vincent; Tsukada, Kaima; Fawkes, Matthew; Bythell-Douglas, Rohan; Davies, Adelina; Holien, Jessica K. (2022-02-08).
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114:, respectively. More broadly, Bloom syndrome is a member of a class of clinical entities that are characterized by chromosomal instability, genomic instability, or both and by cancer predisposition.
272:. The features of BSLD include small size and dermatologic findings, such as cafe-au-lait spots, and the presence of the once pathognomonic elevated SCEs is reported for persons with mutations in
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Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A. (1993). Margaret P Adam; Holly H Ardinger; Roberta A Pagon; Stephanie E Wallace; et al. (eds.).
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1972:
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Bloom syndrome is diagnosed using any of three tests - the presence of quadriradial (Qr, a four-armed chromatid interchange) in cultured blood lymphocytes, and/or the elevated levels of
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There is a closely related entity that is now referred to as Bloom-syndrome-like disorder (BSLD) which is caused by mutations in components of the same protein complex to which the
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When a cell prepares to divide to form two cells, the chromosomes are duplicated so that each new cell will get a complete set of chromosomes. The duplication process is called
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224:) in females. Despite these reductions, several women with Bloom syndrome have had children, and there is a single report of a male with Bloom syndrome bearing children.
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Ben Salah, G; et al. (Nov 2014). "A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members".
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Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and
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MUS81, and loss of normal cell growth. Bloom-like phenotypes have been associated with mutations in topoisomerase III alpha, RMI1 and RMI2 genes.
1617:
Li L, Eng C, Desnick B, German J, Ellis NA (1998). "Carrier frequency of the Bloom syndrome blmAsh mutation in the
Ashkenazi Jewish population".
216:. Persons with Bloom syndrome exhibit a paucity of subcutaneous fat. There is reduced fertility, characterized by a failure in males to produce
2640:
2135:
366:
3317:
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2636:
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Diaz, A; et al. (Jun 9, 2006). "Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome".
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As noted above, there is greatly elevated rate of mutation in Bloom syndrome and the genomic instability is associated with a high risk of
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Although some persons with Bloom syndrome can struggle in school with subjects that require abstract thought, there is no evidence that
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2252:
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German, James; Bloom, David; Passarge, Eberhard (23 April 2008). "Bloom's syndrome. V. Surveillance for cancer in affected families".
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Kristian Moss
Bendtsen; Martin Borch Jensen; Alfred May; Lene Juel Rasmussen; Ala Trusina; Vilhelm A. Bohr; Mogens H. Jensen (2014).
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Bloom syndrome is an autosomal recessive disorder, caused by mutations in the maternally- and paternally-derived copies of the gene
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482:. The test is designed to identify healthy individuals who carry a gene that could cause Bloom Syndrome in their offspring.
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2299:
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Bloom D (1954). "Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity".
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been diagnosed with cancer. It also acts as a report to show current findings and data on all aspects of the disorder.
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1375:"Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability"
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There is a characteristic facial appearance that includes a long, narrow face; prominent nose, cheeks, and ears; and
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478:(FDA) announced on February 19, 2015, that they have authorized marketing of a direct-to-consumer genetic test from
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Crystal structure of the Bloom's syndrome helicase BLM, gray, in complex with DNA, shown in color (PDB ID: 4CGZ).
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There are a variety of other features that are commonly associated with Bloom syndrome. There is a moderate
121:(SCEs). The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954.
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498:. Efforts to minimize exposure to other known environmental mutagens are also advisable in multiple forms.
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183:, characterized by deficiency in certain immunoglobulin classes and a generalized proliferative defect of
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Ellis NA, Groden J, Ye TZ, Straughen J, Ciocci S, Lennon DJ, Proytcheva M, Alhadeff B, German J (1995).
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There are a variety of excellent sources for more detailed clinical information about Bloom syndrome.
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possibly because there is overlap in the function of the proteins mutated in this related disorder.
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are affected by Bloom syndrome, who account for about one-third of affected individuals worldwide.
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Flanagan M, Cunniff CM (February 14, 2019) . Adam MP, Ardinger HH, Pagon RA, et al. (eds.).
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fragmented chromosomes. The hyper-recombination can also be detected by molecular assays The
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2013:
538:
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1596:"FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome"
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Keller, C; et al. (Apr 1999). "Growth deficiency and malnutrition in Bloom syndrome".
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8:
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2018:
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840:"Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition"
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1217:"Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome"
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1002:"FANCM connects the genome instability disorders Bloom syndrome and Fanconi Anemia"
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Bloom syndrome has no specific treatment; however, avoiding sun exposure and using
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1276:"Dynamics of the DNA repair proteins WRN and BLM in the nucleoplasm and nucleoli"
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Persons with Bloom syndrome have an enormous increase in exchange events between
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Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
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2004:
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Proceedings of the
National Academy of Sciences of the United States of America
1092:"Syndrome-causing mutations at BLM in persons in the Bloom's Syndrome Registry"
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replication, and they are sensitive to agents that obstruct DNA replication.
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902:"Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome"
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Bloom syndrome metaphase cells exhibit frequent sister chromatid exchanges.
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family. Mutations in genes encoding other members of this family, namely
2012:
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401:{\displaystyle \textstyle {\tfrac {\mathrm {\mu m} ^{2}}{\mathrm {s} }}}
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1992:
1108:
1091:
543:
96:
3295:
856:
838:
Cunniff, Christopher; Bassetti, Jennifer A.; Ellis, Nathan A. (2017).
745:
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Template:Congenital malformations and deformations of skin appendages
1904:
685:"Bloom Syndrome: A Mendelian Prototype of Somatic Mutational Disease"
508:
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characterized by short stature, predisposition to the development of
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German J (Jan 1997). "Bloom's syndrome. XX. The first 100 cancers".
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3115:
3094:
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2437:
1926:
1141:"Genetic interactions between BLM and DNA ligase IV in human cells"
1043:"The Bloom's syndrome gene product is homologous to RecQ helicases"
548:
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142:
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in cells of any type, and/or the mutation in the BLM gene. The US
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Bloom syndrome has an autosomal recessive pattern of inheritance.
171:
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576:
457:
438:. Errors made during DNA replication can lead to mutations. The
234:
The most serious and frequent complication of Bloom syndrome is
191:. The immune deficiency is thought to be the cause of recurrent
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Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
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can help prevent some of the cutaneous changes associated with
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356:{\displaystyle {\tfrac {\mathrm {\mu m} ^{2}}{\mathrm {s} }}}
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Bloom syndrome has also appeared in the older literature as
84:, and genomic instability. BS is caused by mutations in the
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gene encodes a member of the protein family referred to as
264:
220:(azoospermia) and premature cessation of menses (premature
1214:
811:
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or undersized jaw. The voice is high-pitched and squeaky.
161:, which can appear on the face and on the ocular surface.
1442:"Mutations in TOP3A Cause a Bloom Syndrome-like Disorder"
953:"Mutations in TOP3A Cause a Bloom Syndrome-like Disorder"
2933:
Congenital hypertrophy of the lateral fold of the hallux
1215:
Langlois RG, Bigbee WL, Jensen RH, German J (Jan 1989).
2801:
Template:DNA replication and repair-deficiency disorder
1538:
Bythell-Douglas, Rohan; Deans, Andrew J. (2021-02-04).
1439:
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is more common in Bloom syndrome than in other people.
31:
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623:
James, William; Berger, Timothy; Elston, Dirk (2005).
372:
370:
328:
1653:"Bloom Syndrome - Symptoms, Causes, Treatment | NORD"
1090:
German J, Ciocci S, Ye TZ, Sanz MM, Ellis NA (2007).
369:
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1138:
899:
837:
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900:Hudson, Damien F.; et al. (15 December 2016).
625:
416:
1616:
1540:"A Structural Guide to the Bloom Syndrome Complex"
1089:
400:
355:
2417:Diffuse nonepidermolytic palmoplantar keratoderma
1517:
320:. The diffusion of BLM has been measured to 1.34
3512:
2141:Nonbullous congenital ichthyosiform erythroderma
3551:DNA replication and repair-deficiency disorders
2606:Palmoplantar keratoderma and spastic paraplegia
1743:
1677:"Data from the Bloom's Syndrome Registry, 2009"
1440:Martin, Carol-Anne; et al. (August 2018).
822:
3501:DNA replication and repair-deficiency disorder
2412:Diffuse epidermolytic palmoplantar keratoderma
1325:"The Dissolution of Double Holliday Junctions"
3311:
3053:
2943:Congenital malformations of the dermatoglyphs
1973:
1323:Bizard, A. H.; Hickson, I. D. (1 July 2014).
1322:
1267:
895:
893:
511:Jewish background. Approximately 1 in 48,000
1139:So S, Adachi N, Lieber MR, Koyama H (2004).
1132:
993:
518:
106:, are associated with the clinical entities
1525:"Bloom Syndrome Registry | Pediatrics"
3488:Marfanoid–progeroid–lipodystrophy syndrome
3318:
3304:
3060:
3046:
2968:Melanotic neuroectodermal tumor of infancy
2705:Keratosis follicularis spinulosa decalvans
2136:Ichthyosis–sclerosing cholangitis syndrome
1980:
1966:
1785:. Seattle (WA): University of Washington.
1752:. Seattle (WA): University of Washington.
1588:
1329:Cold Spring Harbor Perspectives in Biology
890:
54:
30:
3194:Hereditary nonpolyposis colorectal cancer
2928:Congenital cartilaginous rest of the neck
2523:Focal palmoplantar and gingival keratosis
1555:
1465:
1416:
1398:
1348:
1299:
1250:
1240:
1180:German J (Jan 1995). "Bloom's syndrome".
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1107:
1058:
1017:
999:
976:
927:
917:
873:
855:
774:
700:
283:Bloom syndrome shares some features with
2993:Rapidly involuting congenital hemangioma
2583:Keratosis punctata of the palmar creases
2578:Keratosis punctata palmaris et plantaris
2449:Clouston's hidrotic ectodermal dysplasia
1488:
1179:
627:(10th ed.). Saunders. p. 575.
590:American Journal of Diseases of Children
456:
294:
170:
3325:
587:
90:gene which is a member of the RecQ DNA
3513:
1446:The American Journal of Human Genetics
950:
682:
647:
616:
3299:
3041:
2054:Congenital ichthyosiform erythroderma
1961:
3412:Hutchinson–Gilford progeria syndrome
2715:Keratosis pilaris atrophicans faciei
2300:Dermatopathia pigmentosa reticularis
1683:. Weill Cornell Medical Center. 2009
833:
831:
731:
683:German, James M.D. (November 1993).
602:10.1001/archpedi.1954.02050100756008
3546:IUIS-PID table 3 immunodeficiencies
1598:. U.S. Food and Drug Administration
1000:Deans AJ, West SC (December 2009).
573:Online Mendelian Inheritance in Man
13:
3008:Superficial lymphatic malformation
2953:Congenital smooth muscle hamartoma
2422:Palmoplantar keratoderma of Sybert
1991:malformations and deformations of
1772:
1716:10.1111/j.1399-0004.1977.tb00919.x
429:
390:
379:
346:
335:
14:
3582:
2480:Scleroatrophic syndrome of Huriez
2310:Hypohidrotic ectodermal dysplasia
1806:
828:
175:An individual with Bloom syndrome
3571:Diseases named after discoverers
3521:Chromosome instability syndromes
3281:Severe combined immunodeficiency
2593:Porokeratosis plantaris discreta
2550:Striate palmoplantar keratoderma
702:10.1097/00005792-199311000-00003
417:Relationship to cancer and aging
252:gene product belongs, including
240:chronic obstructive lung disease
145:, that is red and inflamed, and
3204:Mismatch repair cancer syndrome
3018:Verrucous vascular malformation
2948:Congenital preauricular fistula
2918:Accessory nail of the fifth toe
2795:Template:Pigmentation disorders
2588:Schöpf–Schulz–Passarge syndrome
2568:Acrokeratoelastoidosis of Costa
2273:Laryngoonychocutaneous syndrome
2146:Ichthyosis linearis circumflexa
2131:Ichthyosis prematurity syndrome
1695:
1669:
1645:
1610:
1531:
1482:
1433:
1365:
1316:
1208:
1173:
1083:
1034:
951:Martin CA, et al. (2018).
944:
501:
131:
3077:DNA repair-deficiency disorder
2632:Erythrokeratodermia variabilis
2543:Pachyonychia congenita type II
768:
725:
676:
641:
581:
566:
1:
3531:Autosomal recessive disorders
2958:Cystic lymphatic malformation
2911:Cavernous venous malformation
2538:Pachyonychia congenita type I
2461:Corneodermatoosseous syndrome
2121:Ichthyosis bullosa of Siemens
1681:Weill Cornell Medical College
1503:10.1016/s0165-4608(96)00336-6
1194:10.1016/S0733-8635(18)30101-3
823:Flanagan & Cunniff (2019)
662:10.1016/s0022-3476(99)70206-4
559:
126:Bloom–Torre–Machacek syndrome
3448:DeSanctis–Cacchione syndrome
3155:DeSanctis–Cacchione syndrome
3101:Aicardi–Goutières syndrome 4
2366:Popliteal pterygium syndrome
2058:Epidermolytic hyperkeratosis
1060:10.1016/0092-8674(95)90105-1
1019:10.1016/j.molcel.2009.12.006
919:10.1371/journal.pgen.1006483
577:Bloom Syndrome; BLM - 210900
485:
476:Food and Drug Administration
465:
7:
3566:Syndromes affecting stature
2998:Rosenthal–Kloepfer syndrome
2983:Omphalomesenteric duct cyst
2700:Keratolytic winter erythema
2360:Gerodermia osteodysplastica
1341:10.1101/cshperspect.a016477
1280:European Biophysics Journal
527:
290:
153:and hyper-pigmented areas,
10:
3587:
3453:Nijmegen breakage syndrome
3227:Nijmegen breakage syndrome
3143:Nucleotide excision repair
2573:Focal acral hyperkeratosis
2320:Ellis–van Creveld syndrome
1458:10.1016/j.ajhg.2018.07.001
969:10.1016/j.ajhg.2018.07.001
119:sister chromatid exchanges
3496:
3425:
3402:
3370:
3362:Rothmund–Thomson syndrome
3342:
3333:
3260:Rothmund–Thomson syndrome
3235:
3212:
3180:
3141:
3132:
3083:
2888:
2858:
2822:
2813:
2732:
2651:
2497:Papillon–Lefèvre syndrome
2398:
2384:
2337:
2286:
2163:
2113:
2095:
2068:Harlequin-type ichthyosis
2044:
2026:
2003:
1895:
1814:
1557:10.1016/j.str.2020.11.020
1292:10.1007/s00249-014-0981-x
789:10.1007/s11033-014-3624-5
534:Accelerated aging disease
519:Bloom's Syndrome Registry
472:sister chromatid exchange
363:in nucleoplasm and 0.13
309:sister chromatid exchange
262:, topoisomerase 3 alpha,
112:Rothmund–Thomson syndrome
72:in literature) is a rare
43:
38:
29:
24:
2371:Pseudoxanthoma elasticum
2087:Sjögren–Larsson syndrome
1221:Proc Natl Acad Sci U S A
3426:Other/related disorders
3092:Separation/initiation:
2896:Aplasia cutis congenita
2315:Focal dermal hypoplasia
2278:Skin fragility syndrome
2126:Ichthyosis follicularis
1954:Genetics Home Reference
1400:10.1073/pnas.2109093119
229:intellectual disability
198:carbohydrate metabolism
3463:Dyskeratosis congenita
3443:Baller–Gerold syndrome
3417:Restrictive dermopathy
3372:NER protein-associated
3122:Dyskeratosis congenita
3013:Thyroglossal duct cyst
2978:Nasolacrimal duct cyst
2901:Amniotic band syndrome
2695:Dyskeratosis congenita
2683:Dyskeratosis congenita
2533:Pachyonychia congenita
2444:Bart–Pumphrey syndrome
2376:Van der Woude syndrome
2351:Ehlers–Danlos syndrome
1631:10.1006/mgme.1998.2733
1491:Cancer Genet Cytogenet
1158:10.1074/jbc.M409827200
844:Molecular Syndromology
462:
448:homologous chromosomes
402:
357:
300:
204:and susceptibility to
176:
68:(often abbreviated as
3561:Syndromes with tumors
3541:Ashkenazi Jews topics
3468:Ataxia telangiectasia
3385:Xeroderma pigmentosum
3222:Ataxia–telangiectasia
3165:Xeroderma pigmentosum
2878:Nevus flammeus nuchae
2789:Template:Phakomatoses
2761:Hereditary lymphedema
2325:Rapp–Hodgkin syndrome
2014:Congenital ichthyosis
1242:10.1073/pnas.86.2.670
539:Bloom syndrome (gene)
460:
403:
358:
298:
242:and type 2 diabetes.
174:
3433:Li–Fraumeni syndrome
3276:Li–Fraumeni syndrome
2868:Capillary hemangioma
2770:Urticaria pigmentosa
2528:Howel–Evans syndrome
2288:Ectodermal dysplasia
2229:Generalized atrophic
367:
324:
260:type I topoisomerase
258:, which encodes the
3556:Progeroid syndromes
3438:Rapadilino syndrome
3390:Trichothiodystrophy
3327:Progeroid syndromes
3264:RAPADILINO syndrome
3199:Muir–Torre syndrome
3186:DNA mismatch repair
2555:Tyrosinemia type II
2105:X-linked ichthyosis
2063:Lamellar ichthyosis
2036:Ichthyosis vulgaris
2019:erythrokeratodermia
1391:2022PNAS..11909093H
1233:1989PNAS...86..670L
2938:Congenital lip pit
2502:Haim–Munk syndrome
2454:Vohwinkel syndrome
2329:Hay–Wells syndrome
2305:Hay–Wells syndrome
2151:Ichthyosis hystrix
2077:Netherton syndrome
1896:External resources
1385:(6): e2109093119.
1109:10.1002/humu.20501
463:
398:
397:
395:
353:
351:
301:
212:, and compensated
202:insulin resistance
177:
155:cafe-au-lait spots
3508:
3507:
3478:PIBI(D)S syndrome
3473:De Barsy syndrome
3398:
3397:
3380:Cockayne syndrome
3293:
3292:
3289:
3288:
3151:Cockayne syndrome
3069:Metabolic disease
3035:
3034:
3031:
3030:
2963:Median raphe cyst
2923:Bronchogenic cyst
2845:PHACE association
2809:
2808:
2728:
2727:
2720:Keratosis pilaris
2664:Keratosis pilaris
2618:Carvajal syndrome
2598:Spiny keratoderma
2263:Costello syndrome
2159:
2158:
1941:
1940:
1704:Clinical Genetics
1286:(10–11): 509–16.
857:10.1159/000452082
783:(11): 7373–7380.
746:10.1159/000093826
634:978-0-7216-2921-6
496:photo-sensitivity
452:sister chromatids
394:
350:
181:immune deficiency
63:
62:
19:Medical condition
3578:
3340:
3339:
3320:
3313:
3306:
3297:
3296:
3139:
3138:
3062:
3055:
3048:
3039:
3038:
2850:Sinus pericranii
2820:
2819:
2676:Darier's disease
2485:Olmsted syndrome
2396:
2395:
2296:Naegeli syndrome
2268:Kindler syndrome
2024:
2023:
2010:
2009:
1982:
1975:
1968:
1959:
1958:
1921:Bloom's Syndrome
1812:
1811:
1802:
1768:
1766:
1764:
1746:"Bloom syndrome"
1736:
1735:
1699:
1693:
1692:
1690:
1688:
1673:
1667:
1666:
1664:
1663:
1657:rarediseases.org
1649:
1643:
1642:
1614:
1608:
1607:
1605:
1603:
1592:
1586:
1585:
1559:
1535:
1529:
1528:
1521:
1515:
1514:
1486:
1480:
1479:
1469:
1437:
1431:
1430:
1420:
1402:
1369:
1363:
1362:
1352:
1320:
1314:
1313:
1303:
1271:
1265:
1264:
1254:
1244:
1212:
1206:
1205:
1177:
1171:
1170:
1160:
1151:(53): 55433–42.
1136:
1130:
1129:
1111:
1087:
1081:
1080:
1062:
1038:
1032:
1031:
1021:
997:
991:
990:
980:
948:
942:
941:
931:
921:
912:(12). e1006483.
897:
888:
887:
877:
859:
835:
826:
820:
809:
808:
772:
766:
765:
729:
723:
722:
704:
680:
674:
673:
645:
639:
638:
620:
614:
613:
585:
579:
570:
407:
405:
404:
399:
396:
393:
388:
387:
382:
373:
362:
360:
359:
354:
352:
349:
344:
343:
338:
329:
78:genetic disorder
59:
58:
50:Medical genetics
34:
22:
21:
16:Genetic disorder
3586:
3585:
3581:
3580:
3579:
3577:
3576:
3575:
3511:
3510:
3509:
3504:
3492:
3421:
3394:
3366:
3352:Werner syndrome
3344:RecQ-associated
3329:
3324:
3294:
3285:
3255:Werner syndrome
3231:
3208:
3176:
3128:
3085:DNA replication
3079:
3073:DNA replication
3066:
3036:
3027:
2889:Other/ungrouped
2884:
2873:Port-wine stain
2854:
2815:
2805:
2724:
2647:
2389:
2380:
2333:
2282:
2167:
2155:
2109:
2091:
2040:
2017:
1999:
1986:
1942:
1937:
1936:
1891:
1890:
1823:
1809:
1775:
1773:Further reading
1762:
1760:
1740:
1739:
1700:
1696:
1686:
1684:
1675:
1674:
1670:
1661:
1659:
1651:
1650:
1646:
1619:Mol Genet Metab
1615:
1611:
1601:
1599:
1594:
1593:
1589:
1536:
1532:
1523:
1522:
1518:
1487:
1483:
1438:
1434:
1370:
1366:
1321:
1317:
1272:
1268:
1213:
1209:
1178:
1174:
1137:
1133:
1088:
1084:
1039:
1035:
998:
994:
949:
945:
898:
891:
836:
829:
821:
812:
773:
769:
730:
726:
681:
677:
646:
642:
635:
621:
617:
586:
582:
571:
567:
562:
530:
521:
504:
488:
468:
436:DNA replication
432:
430:Pathophysiology
419:
389:
383:
375:
374:
371:
368:
365:
364:
345:
339:
331:
330:
327:
325:
322:
321:
293:
206:type 2 diabetes
159:telangiectasias
134:
108:Werner syndrome
53:
20:
17:
12:
11:
5:
3584:
3574:
3573:
3568:
3563:
3558:
3553:
3548:
3543:
3538:
3536:Rare syndromes
3533:
3528:
3526:Genodermatoses
3523:
3506:
3505:
3497:
3494:
3493:
3491:
3490:
3485:
3480:
3475:
3470:
3465:
3460:
3458:Fanconi anemia
3455:
3450:
3445:
3440:
3435:
3429:
3427:
3423:
3422:
3420:
3419:
3414:
3408:
3406:
3400:
3399:
3396:
3395:
3393:
3392:
3387:
3382:
3376:
3374:
3368:
3367:
3365:
3364:
3359:
3357:Bloom syndrome
3354:
3348:
3346:
3337:
3331:
3330:
3323:
3322:
3315:
3308:
3300:
3291:
3290:
3287:
3286:
3284:
3283:
3278:
3273:
3271:Fanconi anemia
3268:
3267:
3266:
3257:
3252:
3250:Bloom syndrome
3239:
3237:
3233:
3232:
3230:
3229:
3224:
3218:
3216:
3210:
3209:
3207:
3206:
3201:
3196:
3190:
3188:
3178:
3177:
3175:
3174:
3172:IBIDS syndrome
3169:
3168:
3167:
3157:
3147:
3145:
3136:
3130:
3129:
3127:
3126:
3125:
3124:
3106:
3105:
3104:
3103:
3089:
3087:
3081:
3080:
3065:
3064:
3057:
3050:
3042:
3033:
3032:
3029:
3028:
3026:
3025:
3020:
3015:
3010:
3005:
3000:
2995:
2990:
2988:Poland anomaly
2985:
2980:
2975:
2973:Mongolian spot
2970:
2965:
2960:
2955:
2950:
2945:
2940:
2935:
2930:
2925:
2920:
2914:
2913:
2908:
2906:Branchial cyst
2903:
2898:
2892:
2890:
2886:
2885:
2883:
2882:
2881:
2880:
2870:
2864:
2862:
2856:
2855:
2853:
2852:
2847:
2842:
2837:
2832:
2826:
2824:
2817:
2811:
2810:
2807:
2806:
2780:
2779:
2774:
2773:
2772:
2763:
2751:
2750:
2749:
2736:
2734:
2730:
2729:
2726:
2725:
2723:
2722:
2717:
2712:
2707:
2702:
2697:
2691:
2690:
2688:Lelis syndrome
2685:
2680:
2679:
2678:
2666:
2661:
2659:Meleda disease
2655:
2653:
2649:
2648:
2646:
2645:
2644:
2643:
2634:
2622:
2621:
2620:
2608:
2601:
2600:
2595:
2590:
2585:
2580:
2575:
2570:
2560:
2559:
2558:
2557:
2552:
2547:
2546:
2545:
2540:
2530:
2525:
2520:
2511:
2509:Camisa disease
2506:
2505:
2504:
2499:
2487:
2482:
2477:
2476:
2475:
2473:Naxos syndrome
2463:
2458:
2457:
2456:
2451:
2446:
2430:
2429:
2427:Meleda disease
2424:
2419:
2414:
2404:
2402:
2393:
2386:Hyperkeratosis
2382:
2381:
2379:
2378:
2373:
2368:
2363:
2353:
2347:
2345:
2335:
2334:
2332:
2331:
2322:
2317:
2312:
2307:
2302:
2292:
2290:
2284:
2283:
2281:
2280:
2275:
2270:
2265:
2258:
2257:
2256:
2255:
2250:
2239:
2238:
2237:
2236:
2231:
2226:
2221:
2210:
2209:
2208:
2207:
2202:
2197:
2192:
2187:
2182:
2171:
2169:
2161:
2160:
2157:
2156:
2154:
2153:
2148:
2143:
2138:
2133:
2128:
2123:
2117:
2115:
2111:
2110:
2108:
2107:
2101:
2099:
2093:
2092:
2090:
2089:
2084:
2082:CHIME syndrome
2079:
2073:
2072:
2071:
2070:
2060:
2050:
2048:
2042:
2041:
2039:
2038:
2032:
2030:
2021:
2007:
2005:Genodermatosis
2001:
2000:
1985:
1984:
1977:
1970:
1962:
1956:
1955:
1947:Bloom syndrome
1939:
1938:
1935:
1934:
1923:
1912:
1900:
1899:
1897:
1893:
1892:
1889:
1888:
1877:
1866:
1855:
1840:
1824:
1819:
1818:
1816:
1815:Classification
1808:
1807:External links
1805:
1804:
1803:
1774:
1771:
1770:
1769:
1738:
1737:
1710:(3): 162–168.
1694:
1668:
1644:
1625:(4): 286–290.
1609:
1587:
1530:
1516:
1481:
1452:(2): 221–231.
1432:
1364:
1335:(7): a016477.
1315:
1266:
1207:
1172:
1131:
1102:(8): 743–753.
1096:Human Mutation
1082:
1053:(4): 655–666.
1033:
992:
963:(2): 221–231.
957:Am J Hum Genet
943:
889:
827:
810:
767:
740:(3): 111–117.
724:
695:(6): 393–406.
675:
656:(4): 472–479.
640:
633:
615:
580:
564:
563:
561:
558:
557:
556:
551:
546:
541:
536:
529:
526:
520:
517:
513:Ashkenazi Jews
503:
500:
487:
484:
467:
464:
431:
428:
418:
415:
392:
386:
381:
378:
348:
342:
337:
334:
318:RecQ helicases
292:
289:
285:Fanconi anemia
214:hypothyroidism
151:hypo-pigmented
147:telangiectatic
133:
130:
66:Bloom syndrome
61:
60:
47:
41:
40:
36:
35:
27:
26:
25:Bloom syndrome
18:
15:
9:
6:
4:
3:
2:
3583:
3572:
3569:
3567:
3564:
3562:
3559:
3557:
3554:
3552:
3549:
3547:
3544:
3542:
3539:
3537:
3534:
3532:
3529:
3527:
3524:
3522:
3519:
3518:
3516:
3503:
3502:
3495:
3489:
3486:
3484:
3483:BIDS syndrome
3481:
3479:
3476:
3474:
3471:
3469:
3466:
3464:
3461:
3459:
3456:
3454:
3451:
3449:
3446:
3444:
3441:
3439:
3436:
3434:
3431:
3430:
3428:
3424:
3418:
3415:
3413:
3410:
3409:
3407:
3405:
3401:
3391:
3388:
3386:
3383:
3381:
3378:
3377:
3375:
3373:
3369:
3363:
3360:
3358:
3355:
3353:
3350:
3349:
3347:
3345:
3341:
3338:
3336:
3332:
3328:
3321:
3316:
3314:
3309:
3307:
3302:
3301:
3298:
3282:
3279:
3277:
3274:
3272:
3269:
3265:
3261:
3258:
3256:
3253:
3251:
3248:
3247:
3246:
3245:
3244:RecQ helicase
3241:
3240:
3238:
3234:
3228:
3225:
3223:
3220:
3219:
3217:
3215:
3211:
3205:
3202:
3200:
3197:
3195:
3192:
3191:
3189:
3187:
3183:
3179:
3173:
3170:
3166:
3163:
3162:
3161:
3160:Thymine dimer
3158:
3156:
3152:
3149:
3148:
3146:
3144:
3140:
3137:
3135:
3131:
3123:
3120:
3119:
3118:
3117:
3112:
3108:
3107:
3102:
3099:
3098:
3097:
3096:
3091:
3090:
3088:
3086:
3082:
3078:
3074:
3070:
3063:
3058:
3056:
3051:
3049:
3044:
3043:
3040:
3024:
3021:
3019:
3016:
3014:
3011:
3009:
3006:
3004:
3001:
2999:
2996:
2994:
2991:
2989:
2986:
2984:
2981:
2979:
2976:
2974:
2971:
2969:
2966:
2964:
2961:
2959:
2956:
2954:
2951:
2949:
2946:
2944:
2941:
2939:
2936:
2934:
2931:
2929:
2926:
2924:
2921:
2919:
2916:
2915:
2912:
2909:
2907:
2904:
2902:
2899:
2897:
2894:
2893:
2891:
2887:
2879:
2876:
2875:
2874:
2871:
2869:
2866:
2865:
2863:
2861:
2857:
2851:
2848:
2846:
2843:
2841:
2838:
2836:
2835:Encephalocele
2833:
2831:
2828:
2827:
2825:
2821:
2818:
2814:Developmental
2812:
2804:
2803:
2802:
2797:
2796:
2791:
2790:
2786:
2778:
2777:Hailey–Hailey
2775:
2771:
2767:
2764:
2762:
2759:
2758:
2757:
2756:
2755:immune system
2752:
2748:
2745:
2744:
2743:
2742:
2738:
2737:
2735:
2731:
2721:
2718:
2716:
2713:
2711:
2708:
2706:
2703:
2701:
2698:
2696:
2693:
2692:
2689:
2686:
2684:
2681:
2677:
2674:
2673:
2672:
2671:
2667:
2665:
2662:
2660:
2657:
2656:
2654:
2650:
2642:
2638:
2635:
2633:
2630:
2629:
2628:
2627:
2623:
2619:
2616:
2615:
2614:
2613:
2609:
2607:
2603:
2602:
2599:
2596:
2594:
2591:
2589:
2586:
2584:
2581:
2579:
2576:
2574:
2571:
2569:
2565:
2562:
2561:
2556:
2553:
2551:
2548:
2544:
2541:
2539:
2536:
2535:
2534:
2531:
2529:
2526:
2524:
2521:
2519:
2515:
2512:
2510:
2507:
2503:
2500:
2498:
2495:
2494:
2493:
2492:
2488:
2486:
2483:
2481:
2478:
2474:
2471:
2470:
2469:
2468:
2464:
2462:
2459:
2455:
2452:
2450:
2447:
2445:
2442:
2441:
2440:
2439:
2435:
2434:
2432:
2431:
2428:
2425:
2423:
2420:
2418:
2415:
2413:
2409:
2406:
2405:
2403:
2401:
2397:
2394:
2392:
2391:keratinopathy
2387:
2383:
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2100:
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2020:
2015:
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1998:
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1983:
1978:
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1971:
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1597:
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1583:
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1563:
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1553:
1550:(2): 99–113.
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1182:Dermatol Clin
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1020:
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1012:(6): 943–53.
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984:
979:
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966:
962:
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166:micrognathism
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138:
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115:
113:
109:
105:
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88:
83:
79:
75:
71:
67:
57:
51:
48:
46:
42:
37:
33:
28:
23:
3498:
3356:
3249:
3242:
3114:
3109:Termination/
3093:
2840:Nasal glioma
2830:Dermoid cyst
2799:
2793:
2782:
2781:
2766:Mastocytosis
2753:
2747:EEM syndrome
2739:
2668:
2624:
2610:
2489:
2465:
2436:
1997:skin disease
1945:
1925:
1914:
1903:
1879:
1868:
1857:
1842:
1827:
1781:
1761:. Retrieved
1749:
1707:
1703:
1697:
1685:. Retrieved
1680:
1671:
1660:. Retrieved
1656:
1647:
1622:
1618:
1612:
1600:. Retrieved
1590:
1547:
1543:
1533:
1519:
1497:(1): 100–6.
1494:
1490:
1484:
1449:
1445:
1435:
1382:
1378:
1367:
1332:
1328:
1318:
1283:
1279:
1269:
1227:(2): 670–4.
1224:
1220:
1210:
1185:
1181:
1175:
1148:
1144:
1134:
1099:
1095:
1085:
1050:
1046:
1036:
1009:
1005:
995:
960:
956:
946:
909:
905:
847:
843:
780:
777:Mol Biol Rep
776:
770:
737:
733:
727:
692:
688:
678:
653:
649:
643:
624:
618:
596:(6): 754–8.
593:
589:
583:
568:
522:
505:
502:Epidemiology
489:
469:
445:
433:
420:
411:
313:
304:
302:
282:
277:
273:
269:
263:
253:
249:
247:
244:
233:
226:
210:dyslipidemia
178:
163:
143:erythematous
139:
135:
132:Presentation
125:
123:
116:
101:
95:
85:
69:
65:
64:
3214:MRN complex
3003:Skin dimple
2612:desmoplakin
2604:ungrouped:
2491:Cathepsin C
2467:plakoglobin
2168:and related
1916:GeneReviews
1782:GeneReviews
1750:GeneReviews
1188:(1): 7–18.
850:(1): 4–23.
554:Tumor M2-PK
440:BLM protein
3515:Categories
3499:See also:
3335:DNA repair
3134:DNA repair
3111:telomerase
2433:syndromic
2356:Cutis laxa
2343:Connective
1993:integument
1989:Congenital
1881:DiseasesDB
1662:2023-09-25
906:PLOS Genet
560:References
544:DNA repair
492:sunscreens
76:recessive
3404:Lamin A/C
3023:Birthmark
2816:anomalies
2783:see also
2261:related:
2114:Ungrouped
1905:eMedicine
1791:2372-0697
1582:229689882
1566:1878-4186
1544:Structure
1409:1091-6490
1006:Mol. Cell
866:1661-8769
650:J Pediatr
509:Ashkenazi
486:Treatment
466:Diagnosis
377:μ
333:μ
222:menopause
193:pneumonia
74:autosomal
45:Specialty
3095:RNASEH2A
2741:cadherin
2626:connexin
2564:punctate
2438:connexin
1927:Orphanet
1799:20301295
1763:July 14,
1758:20301572
1732:40914579
1687:17 April
1574:33357470
1476:30057030
1427:35115399
1359:24984776
1310:25119658
1167:15509577
1126:44382072
1118:17407155
1077:13439128
1028:20064461
987:30057030
938:27977684
884:28232778
805:11074294
797:25129257
762:27176412
754:16763388
734:Horm Res
719:31448222
689:Medicine
670:10190923
610:13206391
575:(OMIM):
549:Progeria
528:See also
291:Genetics
92:helicase
2823:Midline
2408:diffuse
2339:Elastic
1910:derm/54
1875:D001816
1639:9758720
1511:9062585
1467:6080766
1418:8832983
1387:Bibcode
1350:4067992
1301:5576897
1261:2911598
1229:Bibcode
1202:7712653
1069:7585968
978:6080766
929:5157948
875:5260600
711:8231788
480:23andMe
189:T cells
2670:ATP2A2
2234:JEB-PA
2205:EBS-MP
2200:EBS-MD
2195:EBS-OG
2190:EBS-DM
2185:EBS-WC
1864:210900
1853:757.39
1797:
1789:
1756:
1730:
1724:908169
1722:
1637:
1602:19 May
1580:
1572:
1564:
1509:
1474:
1464:
1425:
1415:
1407:
1357:
1347:
1308:
1298:
1259:
1252:286535
1249:
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1026:
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926:
882:
872:
864:
803:
795:
760:
752:
717:
709:
668:
631:
608:
423:cancer
268:, and
236:cancer
157:, and
103:RECQL4
82:cancer
52:
3236:Other
2860:Nevus
2733:Other
2652:Other
2514:focal
2224:Mitis
2219:JEB-H
2180:EBS-K
1838:Q82.8
1728:S2CID
1578:S2CID
1122:S2CID
1073:S2CID
801:S2CID
758:S2CID
715:S2CID
274:TOP3A
255:TOP3A
218:sperm
3116:DKC1
3075:and
2253:RDEB
2248:DDEB
1886:1505
1870:MeSH
1859:OMIM
1848:9-CM
1795:PMID
1787:ISSN
1765:2019
1754:PMID
1720:PMID
1689:2015
1635:PMID
1604:2015
1570:PMID
1562:ISSN
1507:PMID
1472:PMID
1423:PMID
1405:ISSN
1355:PMID
1306:PMID
1257:PMID
1198:PMID
1163:PMID
1114:PMID
1065:PMID
1047:Cell
1024:PMID
983:PMID
934:PMID
880:PMID
862:ISSN
793:PMID
750:PMID
707:PMID
666:PMID
629:ISBN
606:PMID
278:RMI1
276:and
270:RMI2
265:RMI1
187:and
110:and
100:and
3182:MSI
2641:KID
2637:HID
2400:PPK
2243:DEB
2214:JEB
2175:EBS
1952:NLM
1950:at
1932:125
1844:ICD
1829:ICD
1712:doi
1627:doi
1552:doi
1499:doi
1462:PMC
1454:doi
1450:103
1413:PMC
1395:doi
1383:119
1345:PMC
1337:doi
1296:PMC
1288:doi
1247:PMC
1237:doi
1190:doi
1153:doi
1149:279
1104:doi
1055:doi
1014:doi
973:PMC
965:doi
961:103
924:PMC
914:doi
870:PMC
852:doi
785:doi
742:doi
697:doi
658:doi
654:134
598:doi
450:or
314:BLM
305:BLM
250:BLM
97:WRN
87:BLM
3517::
3113::
3071::
2798:,
2792:,
2787:,
2566::
2516::
2410::
2165:EB
2097:XR
2056::
2046:AR
2028:AD
1995:/
1930::
1919::
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1708:12
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693:72
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280:.
208:,
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70:BS
3319:e
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3184:/
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2327:/
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2016:/
1981:e
1974:t
1967:v
1846:-
1831:-
1821:D
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185:B
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