BS
MCID: BLM001
MIFTS: 74

Bloom Syndrome (BS) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases, Immune diseases categories
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Summaries for Bloom Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 ataxia telangiectasia and werner syndrome, 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 Regulation of Telomerase and BRCA1 Pathway. The drug cyclophosphamide and the compounds thymine and phosphodiester have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related mouse phenotypes are integument and tumorigenesis.

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:65 Bloom syndrome (often abbreviated as BS in literature), also known as Bloom?Torre?Machacek syndrome, is... more...

Description from OMIM:47 210900

GeneReviews summary for bloom

Aliases & Classifications for Bloom Syndrome

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8Disease Ontology, 9diseasecard, 65Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 19GeneReviews, 20GeneTests, 22GTR, 58SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
bloom syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

bloom syndrome 8 9 65 43 21 47 10 45 49 62
bloom's syndrome 19 20 22 21
bloom-torre-machacek syndrome 8 43 21
congenital telangiectatic erythema 43 21
growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability 43
blepharophimosis, ptosis, and epicanthus inversus 62
congenital telangiectatic erythema syndrome 8
blepharophimosis syndrome 62
burkitt lymphoma 62
bsyn 49
bls 43
blm 43
bs 43


External Ids:

Disease Ontology8 DOID:2717
MeSH35 D001816
NCIt40 C2903
OMIM47 210900
SNOMED-CT58 4434006
ICD10 via Orphanet26 Q99.8, Q87.1
SNOMED-CT via Orphanet59 4434006
UMLS via Orphanet63 C0005859
MESH via Orphanet36 D001816

Related Diseases for Bloom Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Bloom Syndrome:



Diseases related to bloom syndrome

Symptoms for Bloom Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

210900

Clinical features from OMIM:

210900

Symptoms:

49 (show all 40)
  • upper limb polydactyly/hexadactyly
  • acute leukemia
  • sterility/hypofertility
  • chromosome breakage
  • digestive neoplasm/tumor/carcinoma/cancer
  • narrow face
  • skin tumors/lumps/epidermal cysts
  • anodontia/oligodontia/hypodontia
  • acute diarrhea
  • lymphoma
  • sacral sinus/dimple
  • hypoplastic mandibula/partial absence of the mandibula
  • anomalies of nose and olfaction
  • 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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Bloom Syndrome

Search NIH Clinical Center for Bloom Syndrome

Inferred drug relations via UMLS62/NDF-RT41:

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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33MalaCards
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MalaCards organs/tissues related to Bloom Syndrome:

33
Skin, Lung, Bone, B cells, Eye, Breast, Colon, T cells, Myeloid, Liver

Animal Models for Bloom Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Bloom Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5BLM, WRN, LIG1, RECQL4
2MP:00020068.4BLM, UNG, WRN, LIG1, RECQL4
3MP:00053808.0BLM, LIG1, LIG3, RECQL4, RAD51
4MP:00053978.0BLM, UNG, LIG1, RECQL4, RAD54L
5MP:00053877.8BLM, UNG, WRN, LIG1, RECQL4, RAD54L
6MP:00053767.6RAD54L, LIG3, LIG1, WRN, UNG
7MP:00053787.5BLM, WRN, LIG1, LIG3, RECQL4, RAD51
8MP:00053846.6RAD51, BLM, UNG, WRN, LIG1, LIG3
9MP:00107686.6BLM, UNG, WRN, LIG1, LIG3, RECQL4

Publications for Bloom Syndrome

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52PubMed
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Articles related to Bloom Syndrome:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. (24118499)
2013
2
Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein. (24257077)
2013
3
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (23509288)
2013
4
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. (22392978)
2012
5
An unusual case of Bloom syndrome presenting with basal cell carcinoma. (19076197)
2009
6
Bloom syndrome with lung involvement. (20442845)
2009
7
Telomeric D-loops containing 8-oxo-2'-deoxyguanosine are preferred substrates for Werner and Bloom syndrome helicases and are bound by POT1. (19734539)
2009
8
Three new BLM gene mutations associated with Bloom syndrome. (18471088)
2008
9
Lens opacities in Bloom syndrome: case report and review of the literature. (17896317)
2007
10
The Werner and Bloom syndrome proteins catalyze regression of a model replication fork. (17115688)
2006
11
Competition between the DNA unwinding and strand pairing activities of the Werner and Bloom syndrome proteins. (16412221)
2006
12
Spontaneous and induced chromosomal damage and mutations in Bloom Syndrome mice. (15450411)
2004
13
Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. (15367665)
2004
14
Relatively common mutations of the Bloom syndrome gene in the Japanese population. (15289897)
2004
15
Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. (12818200)
2003
16
The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability. (11472631)
2001
17
Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70. (11283371)
2001
18
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. (11281456)
2001
19
Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies. (11454428)
2001
20
An intracranial carcinoma in a Mexican woman with Bloom syndrome. (10818223)
2000
21
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)
2000
22
Characterization of the nuclear localization signal in the DNA helicase responsible for Bloom syndrome. (10762650)
2000
23
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. (10647186)
1999
24
T-cell receptor-gamma rearrangement and c-myb methylation in MNNG-exposed Bloom syndrome B-lymphoblastoid cells. (9563641)
1998
25
Experience treating a patient with Bloom syndrome and acute myelogenous leukemia. (9544230)
1998
26
Histopathologic and ultrastructural study of lupus-like skin lesions in a patient with Bloom syndrome. (9696294)
1998
27
A case of Bloom syndrome with conjunctival telangiectasia. (9144698)
1997
28
Microsatellite instability in B-cell lymphoma originating from Bloom syndrome. (8980251)
1996
29
Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability. (8637501)
1996
30
Interaction of bloom-syndrome cellular cancer antigens with sera of malignant-lymphoma patients - an immunological and cytogenetical study. (21566955)
1994
31
Uncorrected SCE levels of Bloom syndrome cells by cell hybridization with malignant cells with 14q32 structural abnormalities. (8374900)
1993
32
p53 mutation in fresh lymphocytes, B-lymphoblastoid cell lines and their transformed cell lines originating from Bloom syndrome patients. (8330285)
1993
33
DNA ligase III is the major high molecular weight DNA joining activity in SV40-transformed human fibroblasts: normal levels of DNA ligase III activity in Bloom syndrome cells. (8265359)
1993
34
Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. (1279391)
1992
35
Nature and role of high sister chromatid exchanges in Bloom syndrome cells. Some cytogenetic and immunological aspects. (2265400)
1990
36
Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. (3163468)
1988
37
Three-way differentiation of sister chromatids in endoreduplicated (M3) chromosomes of Bloom syndrome B-lymphoid cell line. (3493971)
1987
38
SCE levels in Bloom-syndrome cells at very low bromodeoxyuridine (BrdU) concentrations: monoclonal anti-BrdU antibody. (3540648)
1987
39
Structural alterations of DNA ligase I in Bloom syndrome. (3479778)
1987
40
Bloom syndrome in a Mexican mestizo girl. (3487274)
1986
41
Malignant transformation of Bloom syndrome B-lymphoblastoid cell lines by carcinogens. (3875094)
1985
42
Heterozygous carriers for Bloom syndrome exhibit a spontaneously increased micronucleus formation in cultured fibroblasts. (6745925)
1984
43
Cytogenetic study in a mentally retarded child with Bloom syndrome and acute lymphoblastic leukemia. (6589956)
1984
44
Different properties in lymphoblastoid cell lines from patients with Bloom syndrome. (6099120)
1984
45
Effect of poly(ADP-ribose)polymerase inhibitors on the frequency of sister-chromatid exchanges in Bloom syndrome cells. (6318100)
1983
46
Bloom syndrome fibroblasts secrete a metabolite which enhances SCE rate in normal fibroblasts. (7102727)
1982
47
The effect of aphidicolin on the rate of DNA replication and unscheduled DNA synthesis of Bloom syndrome and normal fibroblasts. (6809595)
1982
48
12-O-tetradecanoylphorbol 13-acetate-inducible proteins are synthesized at an increased rate in Bloom syndrome fibroblasts. (6961458)
1982
49
Tendency to high levels of UVR-induced unscheduled DNA synthesis in Bloom syndrome. (7242543)
1981
50
Proceedings: Bloom syndrome. (4814951)
1974

Variations for Bloom Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Bloom Syndrome:

64
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

Clinvar genetic disease variations for Bloom Syndrome:

1 (show all 40)
id Gene Name Type Significance SNP ID Assembly Location
1MYCNM_002467.4(MYC): c.214C> T (p.Pro72Ser)single nucleotide variantPathogenicrs28933407GRCh37Chr 8, 128750677: 128750677
2MYCNM_002467.4(MYC): c.302A> C (p.Asn101Thr)single nucleotide variantPathogenicrs121918683GRCh37Chr 8, 128750765: 128750765
3MYCNM_002467.4(MYC): c.162G> C (p.Glu54Asp)single nucleotide variantPathogenicrs121918684GRCh37Chr 8, 128750625: 128750625
4MYCNM_002467.4(MYC): c.220C> G (p.Pro74Ala)single nucleotide variantPathogenicrs121918685GRCh37Chr 8, 128750683: 128750683
5BLMBLM: c.1088-2A> Gsingle nucleotide variantPathogenicrs367543015GRCh37Chr 15, 91303375: 91303375
6BLMNM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs)duplicationPathogenicrs367543043GRCh37Chr 15, 91304147: 91304148
7BLMNM_000057.3(BLM): c.1628T> A (p.Leu543Ter)single nucleotide variantPathogenicrs367543038GRCh37Chr 15, 91304231: 91304231
8BLMBLM: c.2074+1G> Tsingle nucleotide variantPathogenicrs367543036GRCh37Chr 15, 91306388: 91306388
9BLMNM_000057.3(BLM): c.2098C> T (p.Gln700Ter)single nucleotide variantPathogenicrs367543028GRCh37Chr 15, 91308549: 91308549
10BLMBLM: c.2193+2T> Gsingle nucleotide variantPathogenicrs367543040GRCh37Chr 15, 91308646: 91308646
11BLMNM_000057.2: c.2308-953_2555+4719deldeletionPathogenicGRCh37Chr 15, 91311410: 91317535
12BLMBLM: c.2406+2T> Gsingle nucleotide variantPathogenicrs367543016GRCh37Chr 15, 91312463: 91312463
13BLMNM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs)deletionPathogenicrs367543024GRCh37Chr 15, 91312767: 91312768
14BLMNM_000057.3(BLM): c.2643G> A (p.Trp881Ter)single nucleotide variantPathogenicrs367543039GRCh37Chr 15, 91326139: 91326139
15BLMNM_000057.3(BLM): c.275delA (p.Asn92Metfs)deletionPathogenicrs367543027GRCh37Chr 15, 91292773: 91292773
16BLMNM_000057.3(BLM): c.2855G> T (p.Gly952Val)single nucleotide variantPathogenicrs367543034GRCh37Chr 15, 91333910: 91333910
17BLMNM_000057.3(BLM): c.2887C> T (p.His963Tyr)single nucleotide variantPathogenicrs367543023GRCh37Chr 15, 91333942: 91333942
18BLMNM_000057.3(BLM): c.2923delC (p.Gln975Lysfs)deletionPathogenicrs367543014GRCh37Chr 15, 91333978: 91333978
19BLMNM_000057.3(BLM): c.311C> A (p.Ser104Ter)single nucleotide variantPathogenicrs367543030GRCh37Chr 15, 91292809: 91292809
20BLMNM_000057.3(BLM): c.3164G> C (p.Cys1055Ser)single nucleotide variantPathogenicrs367543029GRCh37Chr 15, 91337541: 91337541
21BLMNM_000057.3(BLM): c.3191A> T (p.Asp1064Val)single nucleotide variantPathogenicrs367543032GRCh37Chr 15, 91337568: 91337568
22BLMNM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr)single nucleotide variantPathogenicrs367543025GRCh37Chr 15, 91337574: 91337574
23BLMNM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs)duplicationPathogenicrs367543022GRCh37Chr 15, 91341432: 91341433
24BLMNM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs)insertionPathogenicrs367543037GRCh37Chr 15, 91341464: 91341465
25BLMNM_000057.3(BLM): c.3278C> G (p.Ser1093Ter)single nucleotide variantPathogenicrs367543017GRCh37Chr 15, 91341487: 91341487
26BLMNM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs)deletionPathogenicrs367543033GRCh37Chr 15, 91346867: 91346868
27BLMBLM: c.3558+1G> Asingle nucleotide variantPathogenicrs148969222GRCh37Chr 15, 91346951: 91346951
28BLMNM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs)deletionPathogenicrs367543018GRCh37Chr 15, 91347425: 91347425
29BLMNM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs)deletionPathogenicrs367543020GRCh37Chr 15, 91347519: 91347519
30BLMNM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs)duplicationPathogenicrs367543021GRCh37Chr 15, 91347565: 91347566
31BLMNM_000057.3(BLM): c.3847C> T (p.Gln1283Ter)single nucleotide variantPathogenicrs367543031GRCh37Chr 15, 91352462: 91352462
32BLMNM_000057.3(BLM): c.582delT (p.Phe194Leufs)deletionPathogenicrs367543026GRCh37Chr 15, 91293080: 91293080
33BLMNM_000057.3(BLM): c.772_773delCT (p.Leu258Glufs)deletionPathogenicrs367543013GRCh37Chr 15, 91293270: 91293271
34BLMNM_000057.2: c.3751-?_(*177_?)deldeletionPathogenicGRCh37Chr 15, 91347589: 91358686
35BLMNM_000057.3(BLM): c.2407dupT (p.Trp803Leufs)duplicationPathogenicrs367543012GRCh37Chr 15, 91312668: 91312669
36BLMNM_000057.3(BLM): c.2488dupA (p.Thr830Asnfs)duplicationPathogenicrs367543019GRCh37Chr 15, 91312749: 91312750
37FOXL2NM_023067.3(FOXL2): c.586C> T (p.Gln196Ter)single nucleotide variantPathogenicrs104893739GRCh37Chr 3, 138664979: 138664979
38BLMNM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs)indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
39BLMNM_000057.3(BLM): c.557_559delCAA (p.Ser186Ter)deletionPathogenicrs367543035GRCh37Chr 15, 91293055: 91293057
40BLMNM_000057.3(BLM): c.3107G> T (p.Cys1036Phe)single nucleotide variantPathogenicrs137853153GRCh37Chr 15, 91337484: 91337484

Expression for genes affiliated with Bloom Syndrome

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2BioGPS, 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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Sources:
50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 12EMD Millipore, 55Reactome, 60Thomson Reuters, 5Cell Signaling Technology
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Pathways related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7WRN, BLM
2
Show member pathways
9.7BLM, RAD51
39.7BLM, RAD51
4
Show member pathways
9.7RAD51, BLM
5
Show member pathways
9.5LIG1, WRN
6
Show member pathways
9.5RAD51, LIG1
7
Show member pathways
Homologous recombination38
9.2RAD51, RAD54L, BLM
89.2RAD51, RAD54L, BLM
9
Show member pathways
9.1LIG3, LIG1
10
Show member pathways
8.9BLM, WRN, RECQL4, RAD51
118.7RAD51, LIG1, WRN, BLM
12
Show member pathways
8.7LIG1, LIG3, RAD51
13
Show member pathways
8.7LIG1, LIG3, RAD51
14
Show member pathways
8.5UNG, LIG1, LIG3
158.3RAD51, RAD54L, LIG3, BLM

Compounds for genes affiliated with Bloom Syndrome

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45Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR, 3BitterDB
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Compounds related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1thymine45 2410.6RAD51, UNG
2phosphodiester459.6LIG1, UNG
3cytosine45 2410.5RAD51, UNG
4magnesium45 24 1111.4RAD51, WRN, BLM
5l189619.4LIG3, LIG1
6nucleoside459.4LIG1, UNG
7thymidylate459.4RAD51, UNG
8adenine45 24 1111.4RAD51, UNG
9adpribose459.3LIG1, LIG3
10hydroxyurea45 51 1111.2RAD51, RECQL4, WRN, BLM
11caffeine45 29 3 51 24 1114.2RAD51, LIG1
12aphidicolin459.2UNG, LIG1, RAD51
13bleomycin45 1110.0WRN, LIG1, LIG3
14h2o2458.9RAD51, RECQL4, WRN, UNG
15methylmethanesulfonate458.8BLM, WRN, LIG3, RAD51
16oligonucleotide458.8UNG, LIG1, RAD51
17camptothecin45 61 1110.8BLM, WRN, LIG3, RAD51
18pyrophosphate45 249.7UNG, LIG1, LIG3
19atp45 299.5RAD51, RAD54L, LIG1, WRN, BLM
20polynucleotide458.0RAD51, LIG3, LIG1, WRN, UNG
21cisplatin45 51 61 1111.0RAD51, LIG3, LIG1, WRN, UNG

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:

idNameGO IDScoreTop Affiliating Genes
1lateral elementGO:0008009.9RAD51, BLM
2nuclear chromosomeGO:0002289.7BLM, RAD51
3PML bodyGO:0166059.7RAD51, BLM
4chromosomeGO:0056948.8LIG3, LIG1
5nucleolusGO:0057308.3RAD51, RAD54L, LIG1, WRN, BLM
6nucleoplasmGO:0056548.3RAD51, LIG3, LIG1, WRN
7mitochondrionGO:0057398.0UNG, LIG1, LIG3, RAD51
8nucleusGO:0056347.0BLM, UNG, LIG1, LIG3, RECQL4, RAD54L

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1cellular response to camptothecinGO:07275710.0RAD51, BLM
2replication fork processingGO:0312979.9WRN, BLM
3cellular response to ionizing radiationGO:0714799.7RAD51, BLM
4DNA replicationGO:0062609.7RECQL4, WRN
5DNA duplex unwindingGO:0325089.7BLM, WRN, RECQL4
6DNA metabolic processGO:0062599.7LIG1, WRN
7negative regulation of DNA recombinationGO:0459109.6LIG3, BLM
8DNA strand renaturationGO:0007339.6RAD54L, RECQL4, BLM
9telomere maintenanceGO:0007239.5LIG1, WRN, BLM
10ATP catabolic processGO:0062009.5RAD51, WRN, BLM
11cellular response to DNA damage stimulusGO:0069749.4BLM, WRN, RAD51
12lagging strand elongationGO:0062739.4LIG3, LIG1
13meiotic nuclear divisionGO:0071269.4RAD51, RAD54L
14V(D)J recombinationGO:0331519.4LIG1, LIG3
15double-strand break repairGO:0063029.4WRN, LIG1, RAD51
16double-strand break repair via nonhomologous end joiningGO:0063039.3LIG3, LIG1
17reciprocal meiotic recombinationGO:0071319.2LIG3, RAD51
18double-strand break repair via homologous recombinationGO:0007249.0BLM, LIG1, RAD54L, RAD51
19nucleotide-excision repairGO:0062898.8LIG3, LIG1
20DNA recombinationGO:0063108.7BLM, WRN, RECQL4, RAD54L, RAD51
21base-excision repairGO:0062848.4LIG3, LIG1, WRN, UNG
22DNA repairGO:0062817.2RAD51, RAD54L, RECQL4, LIG3, LIG1, UNG

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1four-way junction helicase activityGO:0093789.9WRN, BLM
2G-quadruplex DNA bindingGO:0518809.8WRN, BLM
3ATP-dependent DNA helicase activityGO:0040039.7BLM, WRN
4ATPase activityGO:0168879.7WRN, BLM
5ATP-dependent 3-5 DNA helicase activityGO:0431409.6RECQL4, WRN, BLM
6bubble DNA bindingGO:0004059.6RECQL4, WRN, BLM
7single-stranded DNA bindingGO:0036979.6RAD51, BLM
8annealing helicase activityGO:0363109.5BLM, RECQL4, RAD54L
9helicase activityGO:0043869.4BLM, WRN, RAD54L
10DNA ligase (ATP) activityGO:0039109.3LIG1, LIG3
11DNA ligase activityGO:0039099.2LIG1, LIG3
12DNA bindingGO:0036777.9RAD54L, LIG3, LIG1, WRN
13ATP bindingGO:0055247.2RAD51, RAD54L, RECQL4, LIG3, LIG1, WRN

Products for genes affiliated with Bloom Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bloom Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet