BS
MCID: BLM001
MIFTS: 82

Bloom Syndrome (BS) malady

Eye diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases categories

Summaries for Bloom Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Bloom syndrome is a disorder characterized by a significantly increased risk of cancer and various other features. signs and symptoms include short stature; sun-sensitive skin changes on the face, hands and/or arms; a high-pitched voice; and distinctive facial features including a long, narrow face, small lower jaw, large nose and prominent ears. some affected individuals may also have learning disabilities; an increased risk of diabetes; chronic obstructive pulmonary disease (copd); and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. cancers may include any of those found in the general population, but develop much earlier in life in affected individuals. it is caused by mutations in the blm gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and supportive. last updated: 9/1/2011

MalaCards: Bloom Syndrome, also known as bloom's syndrome, is related to werner syndrome and burkitt's lymphoma, and has symptoms including upper limb polydactyly/hexadactyly, acute leukemia and sterility/hypofertility. An important gene associated with Bloom Syndrome is BLM (Bloom syndrome, RecQ helicase-like), and among its related pathways are Recruitment of repair and signaling proteins to double-strand breaks and Fanconi anemia pathway. The drug cyclophosphamide and the compounds 8-hydroxyadenine and l189 have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related mouse phenotypes are tumorigenesis and normal.

Genetics Home Reference:21 Bloom syndrome is an inherited disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems.

Wikipedia:63 Bloom syndrome (in the literature, often abbreviated BS), also known as Bloom–Torre–Machacek... more...

Description from OMIM:46 210900

GeneReviews summary for bloom

Aliases & Classifications for Bloom Syndrome

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8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
bloom syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

bloom syndrome 8 9 63 42 21 46 10 44 48 60
bloom's syndrome 19 20 22 21
bloom-torre-machacek syndrome 8 42 21
congenital telangiectatic erythema 42 21
blepharophimosis, ptosis, and epicanthus inversus 60
congenital telangiectatic erythema syndrome 8
blepharophimosis syndrome 60
burkitt lymphoma 60
bsyn 48
blm 42
bls 42
bs 42


External Ids:

Disease Ontology8 DOID:2717
MeSH34 D001816
OMIM46 210900
NCIt39 C2903
SNOMED-CT56 4434006
ICD10 via Orphanet26 Q99.8, Q87.1
SNOMED-CT via Orphanet57 4434006
UMLS via Orphanet61 C0005859
MESH via Orphanet35 D001816

Related Diseases for Bloom Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Bloom Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 154)
idRelated DiseaseScoreTop Affiliating Genes
1werner syndrome30.9XRCC6, BRCA1, TERF2, FEN1, WRN, BLM
2burkitt's lymphoma30.5H2AFX, CDK1, TERF2, LIG1, PML
3ataxia telangiectasia30.4BRCA1, HPRT1, H2AFX, RAD51, TERF2, BLM
4leukemia30.3TERF2, RECQL4, H2AFX, HPRT1, HELLS, BRCA1
5stomach cancer30.2CDK1, BRCA1, TERF2
6breast cancer30.2RAD51, BRCA1
7ovarian cancer30.2RAD51, HELLS, BRCA1, H2AFX, CDK1
8xeroderma pigmentosum30.2LIG1, FEN1, HELLS, RECQL, RAD54L, HPRT1
9non-hodgkin lymphoma30.2PML, HPRT1, CDK1, TERF2
10pancreatic cancer30.0BRCA1, LIG1, RAD51
11nijmegen breakage syndrome30.0H2AFX, BLM, LIG1, WRN, BRCA1, TERF2
12lung cancer30.0UNG, HPRT1, FEN1, LIG1, CDK1
13adenocarcinoma30.0BRCA1, H2AFX, RAD51
14retinoblastoma30.0BRCA1, CDK1, HELLS
15hepatocellular carcinoma30.0PML, CDK1
16rothmund-thomson syndrome30.0RECQL4, WRN, BLM, RECQL, RECQL5, HELLS
17fanconi's anemia30.0HELLS, BLM, CDK1, HPRT1, H2AFX, BRCA1
18colorectal cancer30.0XRCC6, FEN1, UNG, WRN, CDK1, H2AFX
19colon cancer30.0RAD51, H2AFX, HPRT1, BRCA1, XRCC6, UNG
20prostate cancer29.8RAD51, CDK1, XRCC6, BRCA1, PML
21blepharophimosis, ptosis, and epicanthus inversus syndrome11.1
22blepharophimosis11.0
23blepharophimosis, ptosis, and epicanthus inversus syndrome type 110.8
24blepharophimosis, ptosis, and epicanthus inversus syndrome type 210.8
25diffuse large b-cell lymphoma10.6
26hypogonadism10.6
27brachydactyly10.4
28microcephaly10.4
29premature menopause10.4
30refractive error10.4
31strabismus10.4
32fanconi syndrome10.4
33pediatric lymphoma10.4
34adult lymphoma10.4
35lymphosarcoma10.3
36intussusception10.3
37acute leukemia10.2
38mutagen sensitivity10.2
39plasmodium malariae malaria10.2
40central nervous system lymphoma10.2
41gastric lymphoma10.2
42lung lymphoma10.2
43acquired immunodeficiency syndrome10.2
44plasmodium falciparum malaria10.2
45malaria10.2
46williams syndrome10.2
47blepharophimosis intellectual disability syndromes10.2
48borderline leprosy10.2
49leprosy10.2
50ataxia10.1

Graphical network of the top 20 diseases related to Bloom Syndrome:



Diseases related to bloom syndrome

Clinical Features for Bloom Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

210900

Clinical synopsis from OMIM:

210900

Symptoms:

48 (show all 40)
  • upper limb polydactyly/hexadactyly
  • acute leukemia
  • sterility/hypofertility
  • chromosome breakage
  • anomalies of nose and olfaction
  • narrow face
  • skin tumors/lumps/epidermal cysts
  • anodontia/oligodontia/hypodontia
  • lymphoma
  • sacral sinus/dimple
  • digestive neoplasm/tumor/carcinoma/cancer
  • hypoplastic mandibula/partial absence of the mandibula
  • acute diarrhea
  • delayed bone age
  • neoplasms/tumors
  • face/facial anomalies
  • intrauterine growth retardation
  • short stature/dwarfism/nanism
  • ichthyosis/ichthyosiform dermatitis
  • short/small nose
  • repeat respiratory infections
  • anomalies of skin, subcutaneous tissue and mucosae
  • hyperhidrosis/increased sweating
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • syndactyly of fingers/interdigital palm
  • microcephaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • prominent/bat ears
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • irregular/patchy skin hypopigmentation
  • dolichocephaly/scaphocephaly
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • skin photosensitivity
  • telangiectasiae of the skin
  • irregular/in bands/reticular skin hyperpigmentation
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • flat cheek bones/malar hypoplasia

Drugs & Therapeutics for Bloom Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Bloom Syndrome

Drug clinical trials:

Search ClinicalTrials for Bloom Syndrome

Search NIH Clinical Center for Bloom Syndrome

Search CenterWatch for Bloom Syndrome

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Bloom Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Bloom Syndrome:

id Genetic test Affiliating Genes
1 Bloom's Syndrome20 BLM
2 Bloom Syndrome22

Anatomical Context for Bloom Syndrome

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32MalaCards
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MalaCards organs/tissues related to Bloom Syndrome:

32
Skin, Lung, Bone, B cells, Eye, Colon, Breast, T cells, Myeloid, Liver

Animal Models for Bloom Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Bloom Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.5UNG, LIG1, BLM, CDK1, RECQL4, H2AFX
2MP:000287310.2HPRT1, CDK1, BLM, UNG, FEN1, BRCA1
3MP:000538010.2BRCA1, HELLS, FEN1, LIG1, LIG3, BLM
4MP:000538710.2PML, BRCA1, HELLS, XRCC6, FEN1, UNG
5MP:000539710.2FEN1, XRCC6, HELLS, BRCA1, PML, UNG
6MP:001076810.1LIG1, WRN, UNG, FEN1, HELLS, BRCA1
7MP:000537810.1WRN, FEN1, XRCC6, HELLS, BRCA1, LIG1
8MP:001077110.0BRCA1, WRN, LIG1, BLM, RECQL4
9MP:000537610.0BRCA1, HELLS, FEN1, UNG, WRN, LIG1
10MP:000538410.0TERF2, LIG1, WRN, UNG, FEN1, XRCC6

Publications for Bloom Syndrome

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50PubMed
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Articles related to Bloom Syndrome:

(show top 50)    (show all 202)
idTitleAuthorsYear
1
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. (24435566)
2014
2
Proton beam therapy for malignancy in Bloom syndrome. (23443610)
2013
3
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. (23129629)
2012
4
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes. (23110454)
2012
5
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. (21730139)
2011
6
Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. (20826341)
2010
7
Bloom syndrome helicase stimulates RAD51 DNA strand exchange activity through a novel mechanism. (19632996)
2009
8
Removal of the bloom syndrome DNA helicase extends the utility of imprecise transposon excision for making null mutations in Drosophila. (19687136)
2009
9
RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. (18923082)
2008
10
Lens opacities in Bloom syndrome: case report and review of the literature. (17896317)
2007
11
Differential expression of Werner and Bloom syndrome genes in the peripheral blood of HIV-1 infected patients. (17321898)
2007
12
The arginine finger of the Bloom syndrome protein: its structural organization and its role in energy coupling. (17766252)
2007
13
Competition between the DNA unwinding and strand pairing activities of the Werner and Bloom syndrome proteins. (16412221)
2006
14
Enhanced gene targeting efficiency by siRNA that silences the expression of the Bloom syndrome gene in human cells. (16611240)
2006
15
Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. (16501249)
2006
16
Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases. (15965237)
2005
17
Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. (15726604)
2005
18
Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. (12818200)
2003
19
A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. (12724401)
2003
20
Expression of BLM (the causative gene for Bloom syndrome) and screening of Bloom syndrome. (12060858)
2002
21
Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. (11876000)
2002
22
Chromosomal instability in B-lymphoblasotoid cell lines from Werner and Bloom syndrome patients. (12297140)
2002
23
The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability. (11472631)
2001
24
Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70. (11283371)
2001
25
Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies. (11454428)
2001
26
Unwinding of a DNA triple helix by the Werner and Bloom syndrome helicases. (11110789)
2001
27
Bloom syndrome in sibs: first reports of hepatocellular carcinoma and Wilms tumor with documented anaplasia and nephrogenic rests. (11826367)
2001
28
Bloom syndrome]. (10921324)
2000
29
Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. (10090915)
1999
30
MNNG-transformed Bloom syndrome B-lymphoblastoids for the detection of Hodgkin's lymphoma-associated antigen in 2D Westerns. (9563642)
1998
31
Microsatellite instability in B-cell lymphoma originating from Bloom syndrome. (8980251)
1996
32
Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. (8661112)
1996
33
Cancer antigen expression and chromosomal changes in a carcinogen-transformed bloom-syndrome B-lymphoblastoid cell-line. (21556573)
1995
34
Low-sister-chromatid-exchange Bloom syndrome cell lines: an important new tool for mapping the basic genetic defect in Bloom syndrome and for unraveling the biology of human tumor development. (7485184)
1995
35
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. (7485150)
1995
36
Non-random distribution of spontaneous chromosome aberrations in two Bloom Syndrome patients. (8537239)
1995
37
Expression of mucinous ovarian-cancer antigen in hybrid-cells derived by fusing a malignantly transformed bloom-syndrome cell-line (bs-shi-4m ovc-mu) and mouse L-cell-line. (21552960)
1995
38
Relationship of DNA strand breakage produced by bromodeoxyuridine to topoisomerase II activity in Bloom-syndrome fibroblasts. (1848352)
1991
39
Nature and role of high sister chromatid exchanges in Bloom syndrome cells. Some cytogenetic and immunological aspects. (2265400)
1990
40
Different mutations responsible for the elevated sister-chromatid exchange frequencies in Bloom syndrome and X-irradiated B-lymphoblastoid cell lines originating from acute leukemia. (2784538)
1989
41
Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. (3163468)
1988
42
Disparate effects of 5-bromodeoxyuridine on sister-chromatid exchanges and chromosomal aberrations in Bloom syndrome fibroblasts. (2965297)
1988
43
SCE levels in Bloom-syndrome cells at very low bromodeoxyuridine (BrdU) concentrations: monoclonal anti-BrdU antibody. (3540648)
1987
44
Preneoplastic phenotype and chromosome changes of cultured human Bloom syndrome fibroblasts (strain GM 1492). (3940643)
1986
45
Bloom syndrome B-lymphoblastoid cells are hypersensitive towards carcinogen and tumor promoter-induced chromosomal alterations and growth in agar. (3876929)
1985
46
Bloom syndrome fibroblasts secrete a metabolite which enhances SCE rate in normal fibroblasts. (7102727)
1982
47
Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. (6942420)
1981
48
Effects of caffeine-pretreatment on SCE and chromosome aberrations induced by monofunctional- and bifunctional-mitomycin C in Bloom syndrome lymphocytes. (7442695)
1980
49
Frequency of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by cocultivation with normal cells. (437776)
1979
50
Proceedings: Bloom syndrome. (4814951)
1974

Genetic Variations for Bloom Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Bloom Syndrome:

62
id Symbol AA change Variation ID SNP ID
1BLMp.Gln672ArgVAR_006901
2BLMp.Thr843IleVAR_006902
3BLMp.Cys1055SerVAR_006903
4BLMp.Gly891GluVAR_009138
5BLMp.Cys901TyrVAR_009139
6BLMp.Cys1036PheVAR_009140
7BLMp.Ile841ThrVAR_016032
8BLMp.Cys878ArgVAR_016033

Expression for genes affiliated with Bloom Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bloom Syndrome

Search GEO for disease gene expression data for Bloom Syndrome.

Pathways for genes affiliated with Bloom Syndrome

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53Reactome, 29KEGG, 51QIAGEN, 37NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology
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Pathways related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4BRCA1, H2AFX
210.4RAD51, BRCA1, BLM
3
Hide members
10.4POLD4, LIG3, LIG1
4
Hide members
10.4FEN1, POLD4, LIG1
5
Hide members
10.4BRCA1, XRCC6, RAD51
6
Hide members
10.4BLM, CDK1, BRCA1
7
DNA damage Role of Brca1 and Brca2 in DNA repair
Hide members
10.4RAD51, H2AFX, BRCA1
810.4H2AFX, RAD51, BRCA1
9
Hide members
10.3RAD54L, BLM, RAD51, POLD4
1010.3HELLS, RAD51, BLM, BRCA1
1110.3BLM, WRN, TERF2, XRCC6
12
Hide members
10.3XRCC6, BRCA1, FEN1, WRN
13
Hide members
10.3POLD4, LIG1, FEN1, H2AFX
1410.3RAD54L, RAD51, BLM, BRCA1, PML
15
Hide members
10.3LIG3, POLD4, FEN1, LIG1, UNG
1610.3RAD51, BRCA1, WRN, LIG1, BLM, PML
17
Hide members
10.3BRCA1, XRCC6, LIG1, RAD51, H2AFX
18
Hide members
10.3POLD4, BRCA1, FEN1, LIG1, RAD51, LIG3
19
Hide members
10.3PML, RAD51, CDK1, H2AFX, BRCA1
2010.3LIG3, RAD54L, RAD51, CDK1, BLM, BRCA1
21
Hide members
10.3POLD4, FEN1, LIG1, H2AFX, CDK1
2210.2WRN, FEN1, BRCA1, POLD4, CDK1, LIG1
23
Hide members
10.2BLM, TERF2, RAD51, H2AFX, POLD4, LIG1
24
Hide members
10.2RAD51, LIG3, BRCA1, XRCC6, FEN1, H2AFX
25
Hide members
10.2FEN1, LIG1, H2AFX, POLD4, CDK1, TERF2
26
Hide members
10.0BRCA1, XRCC6, FEN1, WRN, BLM, CDK1

Compounds for genes affiliated with Bloom Syndrome

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Sources:
44Novoseek, 59Tocris Bioscience, 24HMDB, 11DrugBank, 49PharmGKB, 28IUPHAR, 2BitterDB
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Compounds related to Bloom Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
18-hydroxyadenine4410.8HELLS, WRN
2l1895910.8LIG3, LIG1
3polynucleotide4410.8UNG, WRN, LIG1, LIG3, RAD51
48-oxoguanine4410.8BRCA1, HELLS, WRN, HPRT1
5thymine44 2411.8RAD51, HPRT1, UNG, HELLS
6adozelesin4410.7HPRT1, H2AFX
7bpde4410.7HPRT1, CDK1, BRCA1
8benzo(a)pyrene4410.7BRCA1, HELLS, HPRT1, H2AFX
9nucleoside4410.7HELLS, UNG, LIG1, HPRT1
10adenine44 11 2412.7RAD51, HPRT1, UNG, HELLS, BRCA1
11mitomycin c4410.7BRCA1, XRCC6, HPRT1, H2AFX, RAD51
12adpribose4410.7BRCA1, LIG1, LIG3, CDK1, TERF2
13caffeine44 49 28 2 11 2415.7BRCA1, LIG1, CDK1, H2AFX, RAD51
14guanine44 11 2412.7BRCA1, UNG, CDK1, HPRT1, RAD51
15thymidylate4410.7BRCA1, HELLS, UNG, CDK1, HPRT1, RAD51
16mgcl24410.7UNG, HELLS
17bleomycin44 1111.7BRCA1, XRCC6, WRN, LIG1, LIG3, HPRT1
18oxaliplatin44 49 1112.7HPRT1, CDK1, BRCA1
19aphidicolin4410.7BRCA1, UNG, LIG1, CDK1, HPRT1, H2AFX
20arsenite44 2411.7PML, LIG3, CDK1, H2AFX, TERF2
21nacl4410.6HELLS, UNG, H2AFX, RAD51
22magnesium44 11 2412.6HELLS, FEN1, WRN, BLM, HPRT1, RECQL
23diepoxybutane4410.6HPRT1, BRCA1
24glutamine4410.6PML, BRCA1, HELLS, XRCC6, HPRT1
25hydrogen44 2411.6BRCA1, HELLS, UNG, CDK1, RAD51
26doxorubicin44 49 1112.6H2AFX, CDK1, XRCC6, HELLS, BRCA1
27polyacrylamide4410.6BRCA1, HELLS, UNG, RAD51
28oligonucleotide4410.6BRCA1, HELLS, FEN1, UNG, LIG1, RAD51
295fluorouracil4410.6CDK1, UNG, FEN1, BRCA1
30hydroxyurea44 49 1112.6H2AFX, RECQL4, HPRT1, CDK1, BLM, WRN
31irinotecan44 49 1112.6WRN, CDK1, H2AFX
32etoposide44 49 59 1113.6PML, BRCA1, XRCC6, LIG1, CDK1, HPRT1
33thymidine44 2411.6BRCA1, UNG, CDK1, HPRT1, RAD51
34camptothecin44 59 1112.6PML, BRCA1, XRCC6, WRN, LIG3, BLM
35h2o24410.6PML, BRCA1, HELLS, UNG, WRN, CDK1
36arginine4410.6HELLS, FEN1, WRN, HPRT1, H2AFX, RAD51
37alanine4410.6BRCA1, HELLS, XRCC6, FEN1, LIG1, CDK1
38atp44 2811.5BRCA1, HELLS, FEN1, WRN, LIG1, BLM
39pyrophosphate44 2411.5UNG, LIG1, LIG3, HPRT1
40methylmethanesulfonate4410.5RAD51, BRCA1, HELLS, H2AFX, HPRT1, CDK1
41dttp4410.5UNG, HELLS
42gemcitabine44 49 1112.5RAD51, H2AFX, BRCA1
43cisplatin44 49 59 1113.5BRCA1, HELLS, XRCC6, FEN1, UNG, WRN
44cysteine4410.5PML, BRCA1, HELLS, WRN, HPRT1, RAD51
45retinoic acid44 2411.5PML, BRCA1, HELLS, FEN1, CDK1, TERF2
46purine44 2411.4HELLS, CDK1, HPRT1
47amsacrine44 1111.4RAD51, CDK1
48cytosine44 2411.4RAD51, UNG, BRCA1
497-hydroxystaurosporine44 1111.3H2AFX, CDK1
50serine449.9BRCA1, HELLS, XRCC6, UNG, CDK1, HPRT1

GO Terms for genes affiliated with Bloom Syndrome

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16Gene Ontology
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Cellular components related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1lateral elementGO:00080010.6RAD51, BLM
2nuclear telomere cap complexGO:00078310.6TERF2, XRCC6
3chromosome, telomeric regionGO:00078110.6TERF2, H2AFX, BLM
4chromosomeGO:00569410.5BRCA1, LIG3, LIG1
5PML bodyGO:01660510.5RAD51, BLM, PML
6replication forkGO:00565710.4BLM, H2AFX
7mitochondrionGO:00573910.3FEN1, UNG, LIG1, LIG3, RAD51, CDK1
8nucleoplasmGO:00565410.2CDK1, XRCC6, POLD4, TERF2, RAD51, LIG3
9nucleolusGO:00573010.1RECQL5, PML, FEN1, WRN, BLM, RECQL
10male germ cell nucleusGO:00167310.1H2AFX, BLM
11nucleusGO:00563410.0WRN, UNG, FEN1, HELLS, BRCA1, PML

Biological processes related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1V(D)J recombinationGO:03315110.7LIG3, XRCC6, LIG1
2DNA strand renaturationGO:00073310.7RECQL, RECQL4, RAD54L, BLM
3double-strand break repair via nonhomologous end joiningGO:00630310.7LIG1, XRCC6, LIG3
4DNA duplex unwindingGO:03250810.7RECQL5, RECQL4, RECQL, WRN
5telomere maintenance via semi-conservative replicationGO:03220110.6POLD4, LIG1, FEN1
6DNA metabolic processGO:00625910.6RECQL5, WRN, LIG1
7base-excision repairGO:00628410.6UNG, FEN1, POLD4, LIG3, WRN, LIG1
8response to ionizing radiationGO:01021210.6BRCA1, XRCC6, H2AFX, RAD54L
9cellular response to camptothecinGO:07275710.6RAD51, BLM
10telomere maintenance via recombinationGO:00072210.6FEN1, LIG1, POLD4
11double-strand break repair via homologous recombinationGO:00072410.6RAD54L, RAD51, H2AFX, BLM, LIG1, BRCA1
12response to DNA damage stimulusGO:00697410.6BRCA1, WRN, BLM, H2AFX, RAD51
13DNA strand elongation involved in DNA replicationGO:00627110.6FEN1, LIG1, POLD4
14DNA recombinationGO:00631010.6WRN, BLM, RECQL5, RECQL, RECQL4, RAD54L
15telomere maintenanceGO:00072310.6LIG1, TERF2, BLM, POLD4, WRN, XRCC6
16lagging strand elongationGO:00627310.6LIG1, LIG3
17double-strand break repairGO:00630210.6LIG1, RAD51, H2AFX, WRN, FEN1, XRCC6
18DNA replicationGO:00626010.5WRN, POLD4, RECQL5, RECQL4, FEN1, RECQL
19lymphocyte proliferationGO:04665110.5HPRT1, HELLS
20meiosisGO:00712610.5H2AFX, RAD54L, RAD51
21cell divisionGO:05130110.5RECQL5, CDK1, LIG3, LIG1, HELLS
22DNA ligation involved in DNA repairGO:05110310.5LIG3, LIG1
23negative regulation of DNA recombinationGO:04591010.4BLM, LIG3
24cellular senescenceGO:09039810.4TERF2, PML
25DNA repairGO:00628110.3BRCA1, LIG3, POLD4, CDK1, RECQL, RECQL4
26nucleotide-excision repairGO:00628910.3LIG3, LIG1, POLD4
27replication fork processingGO:03129710.1WRN, BLM

Molecular functions related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1ATP-dependent 3-5 DNA helicase activityGO:04314010.7WRN, BLM, RECQL4, RECQL
2bubble DNA bindingGO:00040510.7RECQL4, WRN, BLM
3ATP-dependent DNA helicase activityGO:00400310.6XRCC6, WRN, BLM, RECQL
4four-way junction helicase activityGO:00937810.6WRN, BLM
5helicase activityGO:00438610.6RAD54L, BLM, WRN, HELLS
6G-quadruplex DNA bindingGO:05188010.6BLM, WRN
7DNA helicase activityGO:00367810.6WRN, RECQL, RECQL5
8damaged DNA bindingGO:00368410.5FEN1, H2AFX, RAD51, XRCC6
9DNA ligase (ATP) activityGO:00391010.5LIG1, LIG3
10DNA ligase activityGO:00390910.5LIG1, LIG3
11annealing helicase activityGO:03631010.4BLM, RAD54L
12exonuclease activityGO:00452710.4WRN, FEN1
13DNA bindingGO:00367710.3RECQL, PML, FEN1, RAD54L, H2AFX, LIG3
14ATP bindingGO:00552410.3RAD54L, XRCC6, WRN, LIG1, LIG3, BLM
15double-stranded telomeric DNA bindingGO:00369110.3XRCC6, TERF2
16protein bindingGO:00551510.1BRCA1, HPRT1, RECQL, H2AFX, RAD51, RAD54L
17double-stranded DNA bindingGO:00369010.1XRCC6, FEN1, RAD51

Products for genes affiliated with Bloom Syndrome

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Sources for Bloom Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet