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 irregular/patchy skin hypopigmentation, ichthyosis/ichthyosiform dermatitis and hyperhidrosis/increased sweating. 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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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 19GeneReviews, 20GeneTests, 22GTR, 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)
  • irregular/patchy skin hypopigmentation
  • ichthyosis/ichthyosiform dermatitis
  • hyperhidrosis/increased sweating
  • upper limb polydactyly/hexadactyly
  • lymphoma
  • syndactyly of fingers/interdigital palm
  • skin tumors/lumps/epidermal cysts
  • sterility/hypofertility
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • digestive neoplasm/tumor/carcinoma/cancer
  • acute leukemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • sacral sinus/dimple
  • prominent/bat ears
  • anodontia/oligodontia/hypodontia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • delayed bone age
  • repeat respiratory infections
  • acute diarrhea
  • irregular/in bands/reticular skin hyperpigmentation
  • anomalies of skin, subcutaneous tissue and mucosae
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • anomalies of nose and olfaction
  • flat cheek bones/malar hypoplasia
  • narrow face
  • neoplasms/tumors
  • autosomal recessive inheritance
  • microcephaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • telangiectasiae of the skin
  • skin photosensitivity
  • short/small nose
  • hypoplastic mandibula/partial absence of the mandibula
  • face/facial anomalies
  • intrauterine growth retardation
  • short stature/dwarfism/nanism
  • chromosome breakage
  • dolichocephaly/scaphocephaly

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
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (23509288)
2013
2
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease. (23572515)
2013
3
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. (22392978)
2012
4
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures. (22272300)
2012
5
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. (21300576)
2011
6
Rif1 provides a new DNA-binding interface for the Bloom syndrome complex to maintain normal replication. (20711169)
2010
7
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential. (19966276)
2010
8
Bloom syndrome in two siblings. (20537070)
2010
9
The Bloom syndrome protein limits the lethality associated with RAD51 deficiency. (20215422)
2010
10
Solution structure of the HRDC domain of human Bloom syndrome protein BLM. (20739603)
2010
11
Bloom syndrome with lung involvement. (20442845)
2009
12
Three new BLM gene mutations associated with Bloom syndrome. (18471088)
2008
13
Deficiency of Bloom syndrome helicase activity is radiomimetic. (18787401)
2008
14
Absence of p53 enhances growth defects and etoposide sensitivity of human cells lacking the Bloom syndrome helicase BLM. (17630856)
2007
15
Bloom syndrome ortholog HIM-6 maintains genomic stability in C. elegans. (16181657)
2005
16
Bloom syndrome: multiple retinopathies in a chromosome breakage disorder. (14977768)
2004
17
Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins. (11919194)
2002
18
Telomerase activity in cell lines and lymphoma originating from Bloom syndrome. (11697506)
2001
19
Characterization of the nuclear localization signal in the DNA helicase responsible for Bloom syndrome. (10762650)
2000
20
Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. (10728666)
2000
21
Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome. (10616531)
2000
22
Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain. (10965492)
2000
23
Binding and melting of D-loops by the Bloom syndrome helicase. (11087418)
2000
24
Nuclear structure in normal and Bloom syndrome cells. (10779560)
2000
25
Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase. (10569803)
1999
26
Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability. (8637501)
1996
27
Treatment of Bloom syndrome patients: guidelines and report of a case. (8637756)
1996
28
Diagnostic relevance of abortion-associated human embryonic antigen expressed on the cell surface of tumour promoter-treated Bloom syndrome cells. (8582963)
1995
29
Interaction of bloom-syndrome cellular cancer antigens with sera of malignant-lymphoma patients - an immunological and cytogenetical study. (21566955)
1994
30
Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. (8079989)
1994
31
Uncorrected SCE levels of Bloom syndrome cells by cell hybridization with malignant cells with 14q32 structural abnormalities. (8374900)
1993
32
Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15. (1518822)
1992
33
Western blotting analysis for malignant lymphoma and stomach cancer antigens from carcinogen-transformed Bloom syndrome cells. (2323853)
1990
34
Cancer antigens are expressed in a carcinogen-transformed Bloom syndrome B-lymphoblastoid cell line. (3186719)
1988
35
Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. (3353381)
1988
36
Three-way differentiation of sister chromatids in endoreduplicated (M3) chromosomes of Bloom syndrome B-lymphoid cell line. (3493971)
1987
37
Wilms tumor in three patients with Bloom syndrome. (3040954)
1987
38
Hypersensitive character of Bloom syndrome B-lymphoblastoid cell lines usable for sensitive carcinogen detection. (3490622)
1986
39
Malignant transformation of Bloom syndrome B-lymphoblastoid cell lines by carcinogens. (3875094)
1985
40
Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells. (4065890)
1985
41
Heterozygous carriers for Bloom syndrome exhibit a spontaneously increased micronucleus formation in cultured fibroblasts. (6745925)
1984
42
Different properties in lymphoblastoid cell lines from patients with Bloom syndrome. (6099120)
1984
43
Corrective factor of Bloom syndrome: identity and relevance. (6505481)
1984
44
Hereditary lecithin-cholesterol acyltransferase deficiency and Bloom syndrome in the same individual. (6859101)
1983
45
The effect of aphidicolin on the rate of DNA replication and unscheduled DNA synthesis of Bloom syndrome and normal fibroblasts. (6809595)
1982
46
12-O-tetradecanoylphorbol 13-acetate-inducible proteins are synthesized at an increased rate in Bloom syndrome fibroblasts. (6961458)
1982
47
SCE in Bloom syndrome B and T lymphocytes. (6980066)
1982
48
Analysis of single and twin sister chromatid exchanges in endoreduplicated normal and Bloom syndrome B-lymphoid cells. (6984382)
1982
49
Effects of temperature on sister chromatid exchange in Bloom syndrome cells. (6818087)
1982
50
Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect. (7325155)
1981

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

Compounds for genes affiliated with Bloom Syndrome

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

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:00078110.6BLM, H2AFX, TERF2
4chromosomeGO:00569410.5LIG3, LIG1, BRCA1
5PML bodyGO:01660510.5PML, BLM, RAD51
6replication forkGO:00565710.4H2AFX, BLM
7mitochondrionGO:00573910.3UNG, LIG1, LIG3, CDK1, RAD51, FEN1
8nucleoplasmGO:00565410.2TERF2, PML, BRCA1, XRCC6, FEN1, WRN
9nucleolusGO:00573010.1PML, FEN1, WRN, BLM, RECQL, RECQL5
10male germ cell nucleusGO:00167310.1H2AFX, BLM
11nucleusGO:00563410.0LIG1, WRN, UNG, FEN1, XRCC6, HELLS

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

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

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

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

Products for genes affiliated with Bloom Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

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