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
Download this MalaCard

Summaries for Bloom Syndrome

About this section


Fully expand this MalaCard
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 based summary: Bloom Syndrome, also known as bloom-torre-machacek syndrome, is related to xeroderma pigmentosum and ataxia telangiectasia, and has symptoms including dolichocephaly/scaphocephaly, narrow face and flat cheek bones/malar hypoplasia. 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:46 210900

GeneReviews summary for bloom

Aliases & Classifications for Bloom Syndrome

About this section
Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 19GeneReviews, 20GeneTests, 22GTR, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Bloom Syndrome, Aliases & Descriptions:

Name: Bloom Syndrome 8 9 65 42 21 46 10 44 48 62
Bloom-Torre-Machacek Syndrome 8 42 21 62
Bloom's Syndrome 19 20 22 21
Congenital Telangiectatic Erythema 42 21 62
Congenital Telangiectatic Erythema Syndrome 8 62
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 42
 
Burkitt Lymphoma 62
Bsyn 48
Bls 42
Blm 42
Bs 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:2717
MeSH34 D001816
NCIt39 C2903
OMIM46 210900
SNOMED-CT57 4434006
MESH via Orphanet35 D001816
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C0005859

Related Diseases for Bloom Syndrome

About this section

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



Diseases related to bloom syndrome

Symptoms for Bloom Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

210900

Clinical features from OMIM:

210900

Symptoms:

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

HPO human phenotypes related to Bloom Syndrome:

(show all 67)
id Description Frequency HPO Source Accession
1 sinusitis hallmark (90%) HP:0000246
2 dolichocephaly hallmark (90%) HP:0000268
3 narrow face hallmark (90%) HP:0000275
4 intrauterine growth retardation hallmark (90%) HP:0001511
5 diarrhea hallmark (90%) HP:0002014
6 recurrent respiratory infections hallmark (90%) HP:0002205
7 delayed skeletal maturation hallmark (90%) HP:0002750
8 abnormality of chromosome stability hallmark (90%) HP:0003220
9 short stature hallmark (90%) HP:0004322
10 irregular hyperpigmentation hallmark (90%) HP:0007400
11 cheekbone underdevelopment hallmark (90%) HP:0010669
12 micrognathia typical (50%) HP:0000347
13 cutaneous photosensitivity typical (50%) HP:0000992
14 abnormality of the voice typical (50%) HP:0001608
15 short nose typical (50%) HP:0003196
16 teleangiectasia of the skin typical (50%) HP:0100585
17 decreased fertility occasional (7.5%) HP:0000144
18 microcephaly occasional (7.5%) HP:0000252
19 abnormality of the pinna occasional (7.5%) HP:0000377
20 sacral dimple occasional (7.5%) HP:0000960
21 hyperhidrosis occasional (7.5%) HP:0000975
22 hypopigmented skin patches occasional (7.5%) HP:0001053
23 hand polydactyly occasional (7.5%) HP:0001161
24 acute leukemia occasional (7.5%) HP:0002488
25 lymphoma occasional (7.5%) HP:0002665
26 hypogammaglobulinemia occasional (7.5%) HP:0004313
27 finger syndactyly occasional (7.5%) HP:0006101
28 neoplasm of the gastrointestinal tract occasional (7.5%) HP:0007378
29 ichthyosis occasional (7.5%) HP:0008064
30 neoplasm of the skin occasional (7.5%) HP:0008069
31 reduced number of teeth occasional (7.5%) HP:0009804
32 cognitive impairment occasional (7.5%) HP:0100543
33 autosomal recessive inheritance HP:0000007
34 azoospermia HP:0000027
35 cryptorchidism HP:0000028
36 microcephaly HP:0000252
37 dolichocephaly HP:0000268
38 malar flattening HP:0000272
39 narrow face HP:0000275
40 protruding ear HP:0000411
41 prominent nose HP:0000448
42 agenesis of maxillary lateral incisor HP:0000690
43 decreased fertility in females HP:0000868
44 cafe-au-lait spot HP:0000957
45 cutaneous photosensitivity HP:0000992
46 hypertrichosis HP:0000998
47 syndactyly HP:0001159
48 hand polydactyly HP:0001161
49 intellectual disability, mild HP:0001256
50 specific learning disability HP:0001328
51 intrauterine growth retardation HP:0001511
52 high pitched voice HP:0001620
53 leukemia HP:0001909
54 bronchiectasis HP:0002110
55 lymphoma HP:0002665
56 iga deficiency HP:0002720
57 igm deficiency HP:0002850
58 squamous cell carcinoma HP:0002860
59 abnormality of chromosome stability HP:0003220
60 clinodactyly of the 5th finger HP:0004209
61 igg deficiency HP:0004315
62 spotty hyperpigmentation HP:0005585
63 spotty hypopigmentation HP:0005590
64 facial telangiectasia in butterfly midface distribution HP:0005598
65 type ii diabetes mellitus HP:0005978
66 chronic lung disease HP:0006528
67 postnatal growth retardation HP:0008897

Drugs & Therapeutics for Bloom Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Bloom Syndrome

Search NIH Clinical Center for Bloom Syndrome

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Bloom Syndrome

About this section

Genetic tests related to Bloom Syndrome:

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

Anatomical Context for Bloom Syndrome

About this section

MalaCards organs/tissues related to Bloom Syndrome:

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

Animal Models for Bloom Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Bloom Syndrome:

36
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

About this section

Articles related to Bloom Syndrome:

(show top 50)    (show all 203)
idTitleAuthorsYear
1
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? (25341612)
2014
2
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. (24118499)
2013
3
Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein. (24257077)
2013
4
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (23509288)
2013
5
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. (22392978)
2012
6
An unusual case of Bloom syndrome presenting with basal cell carcinoma. (19076197)
2009
7
Bloom syndrome with lung involvement. (20442845)
2009
8
Telomeric D-loops containing 8-oxo-2'-deoxyguanosine are preferred substrates for Werner and Bloom syndrome helicases and are bound by POT1. (19734539)
2009
9
Three new BLM gene mutations associated with Bloom syndrome. (18471088)
2008
10
Lens opacities in Bloom syndrome: case report and review of the literature. (17896317)
2007
11
The Werner and Bloom syndrome proteins catalyze regression of a model replication fork. (17115688)
2006
12
Competition between the DNA unwinding and strand pairing activities of the Werner and Bloom syndrome proteins. (16412221)
2006
13
Spontaneous and induced chromosomal damage and mutations in Bloom Syndrome mice. (15450411)
2004
14
Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. (15367665)
2004
15
Relatively common mutations of the Bloom syndrome gene in the Japanese population. (15289897)
2004
16
Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. (12818200)
2003
17
The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability. (11472631)
2001
18
Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70. (11283371)
2001
19
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. (11281456)
2001
20
Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies. (11454428)
2001
21
An intracranial carcinoma in a Mexican woman with Bloom syndrome. (10818223)
2000
22
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)
2000
23
Characterization of the nuclear localization signal in the DNA helicase responsible for Bloom syndrome. (10762650)
2000
24
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. (10647186)
1999
25
T-cell receptor-gamma rearrangement and c-myb methylation in MNNG-exposed Bloom syndrome B-lymphoblastoid cells. (9563641)
1998
26
Experience treating a patient with Bloom syndrome and acute myelogenous leukemia. (9544230)
1998
27
Histopathologic and ultrastructural study of lupus-like skin lesions in a patient with Bloom syndrome. (9696294)
1998
28
A case of Bloom syndrome with conjunctival telangiectasia. (9144698)
1997
29
Microsatellite instability in B-cell lymphoma originating from Bloom syndrome. (8980251)
1996
30
Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability. (8637501)
1996
31
Interaction of bloom-syndrome cellular cancer antigens with sera of malignant-lymphoma patients - an immunological and cytogenetical study. (21566955)
1994
32
Uncorrected SCE levels of Bloom syndrome cells by cell hybridization with malignant cells with 14q32 structural abnormalities. (8374900)
1993
33
p53 mutation in fresh lymphocytes, B-lymphoblastoid cell lines and their transformed cell lines originating from Bloom syndrome patients. (8330285)
1993
34
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
35
Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. (1279391)
1992
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

About this section

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:

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

Expression for genes affiliated with Bloom Syndrome

About this section
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

About this section

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 recombination37
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

About this section

Compounds related to Bloom Syndrome according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1thymine44 2410.6RAD51, UNG
2phosphodiester449.6LIG1, UNG
3cytosine44 2410.5RAD51, UNG
4magnesium44 24 1111.4RAD51, WRN, BLM
5l189619.4LIG3, LIG1
6nucleoside449.4LIG1, UNG
7thymidylate449.4RAD51, UNG
8adenine44 24 1111.4RAD51, UNG
9adpribose449.3LIG1, LIG3
10hydroxyurea44 50 1111.2RAD51, RECQL4, WRN, BLM
11caffeine44 28 2 50 24 1114.2RAD51, LIG1
12aphidicolin449.2UNG, LIG1, RAD51
13bleomycin44 1110.0WRN, LIG1, LIG3
14h2o2448.9RAD51, RECQL4, WRN, UNG
15methylmethanesulfonate448.8BLM, WRN, LIG3, RAD51
16oligonucleotide448.8UNG, LIG1, RAD51
17camptothecin44 61 1110.8BLM, WRN, LIG3, RAD51
18pyrophosphate44 249.7UNG, LIG1, LIG3
19atp44 289.5RAD51, RAD54L, LIG1, WRN, BLM
20polynucleotide448.0RAD51, LIG3, LIG1, WRN, UNG
21cisplatin44 50 61 1111.0RAD51, LIG3, LIG1, WRN, UNG

GO Terms for genes affiliated with Bloom Syndrome

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Bloom Syndrome

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet