MCID: BLM001
MIFTS: 63

Bloom Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Bloom Syndrome

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Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 22GeneReviews, 25GTR, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Bloom Syndrome:

Name: Bloom Syndrome 50 11 69 46 23 24 13 52 68 12 48 37 66
Bloom-Torre-Machacek Syndrome 11 46 24
Congenital Telangiectatic Erythema 46 24
Bloom's Syndrome 24 25
Blm 46 68
Bls 46 68
 
Bs 46 68
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 46
Congenital Telangiectatic Erythema Syndrome 11
Bloom’s Syndrome 22
Bsyn 52

Characteristics:

Orphanet epidemiological data:

52
bloom syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult

HPO:

62
bloom syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 210900
Disease Ontology11 DOID:2717
MeSH37 D001816
NCIt43 C2903
Orphanet52 ORPHA125
SNOMED-CT60 4434006
ICD10 via Orphanet29 Q82.2
MESH via Orphanet38 D001816
UMLS via Orphanet67 C0005859
MedGen35 C0005859

Summaries for Bloom Syndrome

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NIH Rare Diseases:46 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 familial breast cancer and congenital pulmonary veins atresia or stenosis, and has symptoms including sinusitis, dolichocephaly and narrow face. An important gene associated with Bloom Syndrome is BLM (Bloom Syndrome RecQ Like Helicase), and among its related pathways are DNA Damage Induced 14-3-3Sigma Signaling and Regulation of Telomerase. Affiliated tissues include skin, lung and eye, and related mouse phenotypes are adipose tissue and integument.

Disease Ontology:11 An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.

Genetics Home Reference:24 Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.

OMIM:50 Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency;... (210900) more...

UniProtKB/Swiss-Prot:68 Bloom syndrome: An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.

Wikipedia:69 Bloom syndrome (often abbreviated as BS in literature), also known as Bloom-Torre-Machacek syndrome, is... more...

GeneReviews summary for NBK1398

Related Diseases for Bloom Syndrome

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Diseases related to Bloom Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1familial breast cancer30.2BRCA1, BRCA2
2congenital pulmonary veins atresia or stenosis10.5BRCA1, BRCA2
3bronchopulmonary dysplasia10.5BRCA1, BRCA2
4cutaneous lupus erythematosus10.5BRCA1, BRCA2
5autoimmune disease of blood10.4BRCA1, BRCA2
6selective ige deficiency disease10.4BRCA1, BRCA2
7breast cancer, childhood10.4BRCA1, BRCA2
8lethal congenital contracture syndrome 710.3BRCA1, BRCA2
9blau syndrome10.3
10cervical serous adenocarcinoma10.3BRCA1, BRCA2
11fat necrosis of breast10.3BRCA1, BRCA2
12visual cortex disease10.2BRCA1, BRCA2, RAD51
13amyloid tumor10.2ATM, BRCA1, BRCA2
14ovarian brenner tumor10.2BRCA1, BRCA2
15chronic frontal sinusitis10.2BRCA1, BRCA2
16lymphoma10.2
17tumor predisposition syndrome10.1ATM, BRCA1, BRCA2
18fallopian tube germ cell cancer10.1BRCA1, BRCA2
19nasopharyngeal carcinoma10.1ATM, BRCA1, BRCA2
20ataxia-telangiectasia10.1
21ataxia10.1
22peroxisome biogenesis disorder 5a10.0ATM, BRCA1, H2AFX, WRN
23internal auditory canal lipoma10.0ATM, BRCA1, BRCA2, RAD51
24werner syndrome10.0
25leukemia10.0
26pineal region meningioma10.0ATM, BRCA1, BRCA2, RAD51
27brittle bone syndrome lethal type10.0ATM, BRCA1, BRCA2, RAD51
28hiv-19.9
29breast cancer9.9
30b-cell lymphomas9.9
31stomach cancer9.9
32ovarian cancer9.9
33rectum mucinous adenocarcinoma9.9BRCA1, BRCA2
34bejel9.8ATM, BLM, BRCA1, BRCA2, RAD51
35acrodermatitis enteropathica9.8RECQL, RECQL4, RECQL5, WRN
36colorectal cancer9.8
37hepatocellular carcinoma9.8
38myelodysplastic syndrome9.8
39burkitt lymphoma9.8
40rothmund-thomson syndrome9.8
41dubowitz syndrome9.8
42acute leukemia9.8
43lymphoblastic leukemia9.8
44basal cell carcinoma9.8
45adenocarcinoma9.8
46short-rib thoracic dysplasia 3 with or without polydactyly9.6ATM, BRCA1, BRCA2, H2AFX, LIG1
47baller-gerold syndrome9.6HELLS, RECQL, RECQL4, RECQL5, WRN
48rapadilino syndrome9.4BLM, HELLS, RECQL, RECQL4, RECQL5, WRN
49alzheimer disease 129.1BLM, FEN1, HELLS, RECQL, RECQL4, RECQL5
50lymphedema-distichiasis syndrome8.6ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX

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



Diseases related to bloom syndrome

Symptoms for Bloom Syndrome

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Symptoms by clinical synopsis from OMIM:

210900

Clinical features from OMIM:

210900

Symptoms:

 52 (show all 43)
  • azoospermia
  • sinusitis
  • microcephaly
  • dolichocephaly
  • abnormality of the face
  • malar flattening
  • narrow face
  • abnormality of the nose
  • protruding ear
  • decreased fertility in females
  • abnormality of the skin
  • sacral dimple
  • hyperhidrosis
  • cutaneous photosensitivity
  • hypopigmented skin patches
  • hand polydactyly
  • intellectual disability, mild
  • intrauterine growth retardation
  • high pitched voice
  • diarrhea
  • recurrent respiratory infections
  • acute leukemia
  • neoplasm
  • lymphoma
  • iga deficiency
  • delayed skeletal maturation
  • igm deficiency
  • squamous cell carcinoma
  • short nose
  • abnormality of chromosome stability
  • hypogammaglobulinemia
  • igg deficiency
  • short stature
  • spotty hyperpigmentation
  • facial telangiectasia in butterfly midface distribution
  • finger syndactyly
  • neoplasm of the gastrointestinal tract
  • ichthyosis
  • postnatal growth retardation
  • reduced number of teeth
  • cheekbone underdevelopment
  • erythema
  • teleangiectasia of the skin

HPO human phenotypes related to Bloom Syndrome:

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

Drugs & Therapeutics for Bloom Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1The Use of the Hormone Kisspeptin in 'in Vitro Fertilisation' (IVF) TreatmentRecruitingNCT01667406Phase 2
2Biological Significance of the Bloom's Syndrome ProteinCompletedNCT00021437

Search NIH Clinical Center for Bloom Syndrome


Cochrane evidence based reviews: bloom syndrome

Genetic Tests for Bloom Syndrome

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Genetic tests related to Bloom Syndrome:

id Genetic test Affiliating Genes
1 Bloom Syndrome25 23 BLM

Anatomical Context for Bloom Syndrome

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MalaCards organs/tissues related to Bloom Syndrome:

34
Skin, Lung, Eye, Bone, Breast, Colon, B cells

Animal Models for Bloom Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Bloom Syndrome:

39 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.6ATM, BRCA1, FEN1, HELLS, RECQL4, RMI1
2MP:00107718.5ATM, BLM, BRCA1, BRCA2, HELLS, HPRT1
3MP:00053807.7ATM, BLM, BRCA1, BRCA2, FEN1, HELLS
4MP:00020067.5ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
5MP:00053797.4ATM, BRCA1, BRCA2, FEN1, H2AFX, HELLS
6MP:00053877.3ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
7MP:00053977.0ATM, BLM, BRCA1, BRCA2, FEN1, GP1BB
8MP:00053766.7ATM, BRCA1, BRCA2, FEN1, GP1BB, H2AFX
9MP:00053846.3ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
10MP:00053786.2ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
11MP:00107686.1ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX

Publications for Bloom Syndrome

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Articles related to Bloom Syndrome:

(show top 50)    (show all 216)
idTitleAuthorsYear
1
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome. (27597923)
2016
2
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. (26340805)
2015
3
Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer. (25673821)
2015
4
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? (25341612)
2014
5
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. (24435566)
2014
6
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (23509288)
2013
7
Proton beam therapy for malignancy in Bloom syndrome. (23443610)
2013
8
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. (24932421)
2013
9
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports. (24377487)
2013
10
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. (23708797)
2013
11
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. (21300576)
2011
12
An unusual case of Bloom syndrome presenting with basal cell carcinoma. (19076197)
2009
13
Bloom syndrome with lung involvement. (20442845)
2009
14
Lupus-like histopathology in bloom syndrome: reexamining the clinical and histologic implications of photosensitivity. (19820394)
2009
15
Bloom syndrome helicase stimulates RAD51 DNA strand exchange activity through a novel mechanism. (19632996)
2009
16
Differential expression of Werner and Bloom syndrome genes in the peripheral blood of HIV-1 infected patients. (17321898)
2007
17
Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases. (15965237)
2005
18
Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. (15137905)
2004
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
Selective cleavage of BLM, the bloom syndrome protein, during apoptotic cell death. (11154689)
2001
22
Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. (10728666)
2000
23
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. (10647186)
1999
24
Experience treating a patient with Bloom syndrome and acute myelogenous leukemia. (9544230)
1998
25
Histopathologic and ultrastructural study of lupus-like skin lesions in a patient with Bloom syndrome. (9696294)
1998
26
High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. (10464606)
1998
27
A case of Bloom syndrome with conjunctival telangiectasia. (9144698)
1997
28
Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability. (8637501)
1996
29
A human embryonic antigen associated with spontaneous-abortion is expressed on the cell-surface of a tumor promoter-treated bloom-syndrome B-lymphoblastoid cell-line. (21556539)
1995
30
Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. (8079989)
1994
31
Bloom syndrome and maternal uniparental disomy for chromosome 15. (7912890)
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
Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15. (1518822)
1992
35
Bloom syndrome and ataxia telangiectasia. (1876866)
1991
36
Relationship of DNA strand breakage produced by bromodeoxyuridine to topoisomerase II activity in Bloom-syndrome fibroblasts. (1848352)
1991
37
Cancer antigens are expressed in a carcinogen-transformed Bloom syndrome B-lymphoblastoid cell line. (3186719)
1988
38
Three-way differentiation of sister chromatids in endoreduplicated (M3) chromosomes of Bloom syndrome B-lymphoid cell line. (3493971)
1987
39
SCE levels in Bloom-syndrome cells at very low bromodeoxyuridine (BrdU) concentrations: monoclonal anti-BrdU antibody. (3540648)
1987
40
Structural alterations of DNA ligase I in Bloom syndrome. (3479778)
1987
41
Cell cycle rate and sister chromatid exchange profile in polyethylene glycol-exposed/unexposed Bloom syndrome and normal cells. A co-culture study. (3570291)
1987
42
Bloom syndrome in a Mexican mestizo girl. (3487274)
1986
43
Malignant transformation of Bloom syndrome B-lymphoblastoid cell lines by carcinogens. (3875094)
1985
44
Different properties in lymphoblastoid cell lines from patients with Bloom syndrome. (6099120)
1984
45
Protease inhibitors reduce the frequency of spontaneous chromosome abnormalities in cells from patients with Bloom syndrome. (6584916)
1984
46
Sensitivity of Bloom syndrome fibroblasts to mitomycin C. (6429525)
1984
47
Effect of poly(ADP-ribose)polymerase inhibitors on the frequency of sister-chromatid exchanges in Bloom syndrome cells. (6318100)
1983
48
Tendency to high levels of UVR-induced unscheduled DNA synthesis in Bloom syndrome. (7242543)
1981
49
Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. (6942420)
1981
50
Proceedings: Bloom syndrome. (4814951)
1974

Variations for Bloom Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Bloom Syndrome:

68
id Symbol AA change Variation ID SNP ID
1BLMp.Gln672ArgVAR_006901rs747281324
2BLMp.Thr843IleVAR_006902
3BLMp.Cys1055SerVAR_006903rs367543029
4BLMp.Gly891GluVAR_009138
5BLMp.Cys901TyrVAR_009139rs758311406
6BLMp.Cys1036PheVAR_009140rs137853153
7BLMp.Ile841ThrVAR_016032rs767086502
8BLMp.Cys878ArgVAR_016033

Clinvar genetic disease variations for Bloom Syndrome:

5 (show all 48)
id Gene Variation Type Significance SNP ID Assembly Location
1BLMNM_000057.3(BLM): c.1642C> T (p.Gln548Ter)single nucleotide variantPathogenicrs200389141GRCh38Chr 15, 90761015: 90761015
2BLMNM_000057.3(BLM): c.2695C> T (p.Arg899Ter)single nucleotide variantLikely pathogenic, Pathogenicrs587779884GRCh38Chr 15, 90784953: 90784953
3BLMNM_000057.3(BLM): c.3415C> T (p.Arg1139Ter)single nucleotide variantPathogenicrs587783037GRCh38Chr 15, 90803577: 90803577
4BLMNM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs)indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
5BLMNM_000057.3(BLM): c.2250_2251insAAAT (p.Leu751Lysfs)insertionLikely pathogenic, Pathogenicrs786204471GRCh37Chr 15, 91310196: 91310197
6BLMNM_000057.3(BLM): c.991_995delAAAGA (p.Lys331Glyfs)deletionLikely pathogenicrs786204524GRCh37Chr 15, 91298072: 91298076
7BLMNM_000057.3(BLM): c.2015A> G (p.Gln672Arg)single nucleotide variantLikely pathogenicrs747281324GRCh37Chr 15, 91306328: 91306328
8BLMNM_000057.3(BLM): c.581_582delTT (p.Phe194Terfs)deletionLikely pathogenicrs786204640GRCh37Chr 15, 91293079: 91293080
9BLMNM_000057.3(BLM): c.3028delG (p.Asp1010Metfs)deletionLikely pathogenicrs780379121GRCh37Chr 15, 91337405: 91337405
10BLMNM_000057.3(BLM): c.2207_2212delATCTGAins7indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
11BLMNM_001287246.1(BLM): c.3014_3015insTATCA (p.Met1006Ilefs)insertionLikely pathogenicrs797045115GRCh38Chr 15, 90790839: 90790840
12BLMNM_000057.3(BLM): c.2580_2581delTA (p.His860Glnfs)deletionPathogenicrs864622347GRCh38Chr 15, 90782846: 90782847
13BLMNM_000057.3(BLM): c.3558+1G> Tsingle nucleotide variantLikely pathogenicrs148969222GRCh37Chr 15, 91346951: 91346951
14BLMNM_000057.3(BLM): c.1088-2A> Gsingle nucleotide variantPathogenicrs367543015GRCh37Chr 15, 91303375: 91303375
15BLMNM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs)duplicationPathogenicrs367543043GRCh37Chr 15, 91304147: 91304147
16BLMNM_000057.3(BLM): c.1628T> A (p.Leu543Ter)single nucleotide variantPathogenicrs367543038GRCh37Chr 15, 91304231: 91304231
17BLMNM_000057.3(BLM): c.2074+1G> Tsingle nucleotide variantPathogenicrs367543036GRCh37Chr 15, 91306388: 91306388
18BLMNM_000057.3(BLM): c.2098C> T (p.Gln700Ter)single nucleotide variantPathogenicrs367543028GRCh37Chr 15, 91308549: 91308549
19BLMNM_000057.3(BLM): c.2193+2T> Gsingle nucleotide variantPathogenicrs367543040GRCh37Chr 15, 91308646: 91308646
20BLMNM_000057.2(BLM): c.2308-953_2555+4719deldeletionPathogenicGRCh37Chr 15, 91311410: 91317535
21BLMNM_000057.3(BLM): c.2406+2T> Gsingle nucleotide variantPathogenicrs367543016GRCh37Chr 15, 91312463: 91312463
22BLMNM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs)deletionPathogenicrs367543024GRCh37Chr 15, 91312767: 91312768
23BLMNM_000057.3(BLM): c.2643G> A (p.Trp881Ter)single nucleotide variantPathogenicrs367543039GRCh37Chr 15, 91326139: 91326139
24BLMNM_000057.3(BLM): c.275delA (p.Asn92Metfs)deletionPathogenicrs367543027GRCh37Chr 15, 91292773: 91292773
25BLMNM_000057.3(BLM): c.2855G> T (p.Gly952Val)single nucleotide variantPathogenicrs367543034GRCh37Chr 15, 91333910: 91333910
26BLMNM_000057.3(BLM): c.2887C> T (p.His963Tyr)single nucleotide variantPathogenicrs367543023GRCh37Chr 15, 91333942: 91333942
27BLMNM_000057.3(BLM): c.2923delC (p.Gln975Lysfs)deletionPathogenicrs367543014GRCh37Chr 15, 91333978: 91333978
28BLMNM_000057.3(BLM): c.311C> A (p.Ser104Ter)single nucleotide variantPathogenicrs367543030GRCh37Chr 15, 91292809: 91292809
29BLMNM_000057.3(BLM): c.3164G> C (p.Cys1055Ser)single nucleotide variantPathogenicrs367543029GRCh37Chr 15, 91337541: 91337541
30BLMNM_000057.3(BLM): c.3191A> T (p.Asp1064Val)single nucleotide variantPathogenicrs367543032GRCh37Chr 15, 91337568: 91337568
31BLMNM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr)single nucleotide variantPathogenicrs367543025GRCh37Chr 15, 91337574: 91337574
32BLMNM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs)duplicationPathogenicrs367543022GRCh37Chr 15, 91341432: 91341432
33BLMNM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs)insertionPathogenicrs367543037GRCh37Chr 15, 91341464: 91341465
34BLMNM_000057.3(BLM): c.3278C> G (p.Ser1093Ter)single nucleotide variantPathogenicrs367543017GRCh37Chr 15, 91341487: 91341487
35BLMNM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs)deletionPathogenicrs367543033GRCh37Chr 15, 91346867: 91346868
36BLMNM_000057.3(BLM): c.3558+1G> Asingle nucleotide variantPathogenicrs148969222GRCh37Chr 15, 91346951: 91346951
37BLMNM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs)deletionPathogenicrs367543018GRCh37Chr 15, 91347425: 91347425
38BLMNM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs)deletionPathogenicrs367543020GRCh37Chr 15, 91347519: 91347519
39BLMNM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs)duplicationPathogenicrs367543021GRCh37Chr 15, 91347565: 91347565
40BLMNM_000057.3(BLM): c.3847C> T (p.Gln1283Ter)single nucleotide variantPathogenicrs367543031GRCh37Chr 15, 91352462: 91352462
41BLMNM_000057.3(BLM): c.582delT (p.Phe194Leufs)deletionPathogenicrs367543026GRCh37Chr 15, 91293080: 91293080
42BLMNM_000057.3(BLM): c.772_773delCT (p.Leu258Glufs)deletionLikely pathogenic, Pathogenicrs367543013GRCh37Chr 15, 91293270: 91293271
43BLMNM_000057.3(BLM): c.3751+(?_0)_*(177_?)deldeletionPathogenicGRCh37Chr 15, 91347589: 91358686
44BLMNM_000057.3(BLM): c.2407dupT (p.Trp803Leufs)duplicationPathogenicrs367543012GRCh37Chr 15, 91312668: 91312668
45BLMNM_000057.3(BLM): c.2488dupA (p.Thr830Asnfs)duplicationPathogenicrs367543019GRCh37Chr 15, 91312749: 91312749
46BLMNM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs)indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
47BLMNM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer)deletionPathogenicrs367543035GRCh37Chr 15, 91293055: 91293057
48BLMNM_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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Search GEO for disease gene expression data for Bloom Syndrome.

Pathways for genes affiliated with Bloom Syndrome

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Pathways related to Bloom Syndrome according to GeneCards Suite gene sharing:

(show all 27)
idSuper pathwaysScoreTop Affiliating Genes
19.9ATM, BRCA1
29.9ATM, BLM, WRN
39.7ATM, BLM, BRCA1
49.7ATM, BRCA1, RAD51
59.7BRCA1, FEN1, WRN
6
Show member pathways
9.5BLM, BRCA1, PML, WRN
7
Show member pathways
9.4LIG1, LIG3, POLD4
8
Show member pathways
9.4FEN1, LIG1, POLD4
9
Show member pathways
9.4FEN1, LIG1, POLD4
10
Show member pathways
9.1ATM, BRCA1, H2AFX, RAD51
11
Show member pathways
8.9ATM, BRCA1, H2AFX, PML, RAD51
128.9ATM, BLM, BRCA1, BRCA2, PML, RAD51
13
Show member pathways
8.8ATM, BLM, BRCA1, BRCA2, HELLS, RAD51
14
Show member pathways
8.8FEN1, H2AFX, LIG1, POLD4
158.8ATM, BLM, BRCA2, POLD4, RAD51
16
Show member pathways
8.6BRCA1, FEN1, LIG1, LIG3, POLD4, WRN
17
Show member pathways
8.6ATM, BLM, BRCA1, BRCA2, H2AFX, RAD51
188.5ATM, BLM, BRCA1, BRCA2, LIG1, PML
19
Show member pathways
8.1BLM, BRCA1, BRCA2, RAD51, RMI1, RMI2
20
Show member pathways
8.0ATM, BLM, BRCA1, PML, RMI1, RMI2
21
Show member pathways
8.0ATM, BRCA1, BRCA2, FEN1, LIG1, LIG3
22
Show member pathways
7.7ATM, BLM, BRCA1, H2AFX, RMI1, RMI2
237.7ATM, BLM, BRCA1, FEN1, H2AFX, RAD51
24
Show member pathways
7.7ATM, BLM, BRCA1, BRCA2, RAD51, RMI1
25
Show member pathways
7.0ATM, BLM, BRCA1, BRCA2, POLD4, RAD51
26
Show member pathways
6.0ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
27
Show member pathways
5.8ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX

GO Terms for genes affiliated with Bloom Syndrome

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Cellular components related to Bloom Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lateral elementGO:000080010.8BLM, RAD51
2PML bodyGO:001660510.4BLM, PML, RAD51
3chromosome, telomeric regionGO:000078110.0ATM, BLM, H2AFX
4condensed nuclear chromosomeGO:00007949.9BRCA1, H2AFX, RAD51
5nuclear chromosome, telomeric regionGO:00007849.4ATM, BRCA2, FEN1, PML, RAD51, WRN
6chromosomeGO:00056949.3BRCA1, H2AFX, RECQL, RECQL4, RECQL5
7nucleoplasmGO:00056544.7ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
8nucleusGO:00056344.4ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX

Biological processes related to Bloom Syndrome according to GeneCards Suite gene sharing:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1cellular response to hydroxyureaGO:007271110.7BLM, RAD51
2cellular response to camptothecinGO:007275710.7BLM, RAD51
3lymphocyte proliferationGO:004665110.5HELLS, HPRT1
4replication fork protectionGO:004847810.5BLM, BRCA2
5mitotic recombination-dependent replication fork processingGO:199042610.5BRCA2, RAD51
6replication fork processingGO:003129710.4BLM, RAD51, WRN
7response to UV-CGO:001022510.4BRCA2, WRN
8DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.3BRCA1, BRCA2
9chromosome breakageGO:003105210.3BRCA1, BRCA2
10chordate embryonic developmentGO:004300910.3BRCA1, BRCA2
11DNA strand renaturationGO:000073310.3BLM, RECQL, RECQL4
12response to X-rayGO:001016510.2BLM, BRCA2, RAD51
13V(D)J recombinationGO:003315110.2ATM, LIG1, LIG3
14DNA recombinationGO:000631010.2BLM, RAD51, RECQL4
15nucleotide-excision repair, DNA gap fillingGO:000629710.1LIG1, LIG3, POLD4
16protein sumoylationGO:001692510.1BLM, BRCA1, PML, WRN
17DNA double-strand break processingGO:000072910.0ATM, BLM, BRCA1
18cell agingGO:00075699.9BRCA2, PML, WRN
19DNA metabolic processGO:00062599.9LIG1, RECQL5, WRN
20base-excision repairGO:00062849.8FEN1, LIG1, RECQL4, WRN
21transcription-coupled nucleotide-excision repairGO:00062839.8LIG1, LIG3, POLD4
22cellular response to gamma radiationGO:00714809.8ATM, H2AFX, RAD51, WRN
23double-strand break repair via nonhomologous end joiningGO:00063039.8ATM, BRCA1, H2AFX
24intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.7ATM, BRCA1, BRCA2, PML
25response to ionizing radiationGO:00102129.6ATM, BRCA1, H2AFX
26DNA duplex unwindingGO:00325089.6BLM, RECQL, RECQL4, RECQL5, WRN
27brain developmentGO:00074209.2ATM, BRCA1, BRCA2, WRN
28telomere maintenance via recombinationGO:00007228.9BRCA2, FEN1, LIG1, POLD4, RAD51, WRN
29cellular response to DNA damage stimulusGO:00069748.8ATM, BLM, BRCA1, BRCA2, H2AFX, RAD51
30double-strand break repairGO:00063028.6BRCA1, BRCA2, FEN1, H2AFX, LIG3, RECQL4
31DNA repairGO:00062818.4ATM, BLM, FEN1, H2AFX, LIG1, RAD51
32regulation of signal transduction by p53 class mediatorGO:19017968.3ATM, BLM, BRCA1, PML, RMI1, RMI2
33double-strand break repair via homologous recombinationGO:00007248.1ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
34strand displacementGO:00007328.0ATM, BLM, BRCA1, BRCA2, RAD51, RMI1
35DNA synthesis involved in DNA repairGO:00007317.3ATM, BLM, BRCA1, BRCA2, POLD4, RAD51
36DNA replicationGO:00062606.5ATM, BLM, BRCA1, FEN1, POLD4, RECQL4

Molecular functions related to Bloom Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1DNA ligase (ATP) activityGO:000391010.8LIG1, LIG3
2DNA ligase activityGO:000390910.8LIG1, LIG3
3G-quadruplex DNA bindingGO:005188010.7BLM, WRN
4exonuclease activityGO:000452710.6FEN1, WRN
5bubble DNA bindingGO:000040510.5BLM, RECQL4, WRN
6annealing helicase activityGO:003631010.4BLM, RECQL, RECQL4
7ATP-dependent DNA helicase activityGO:000400310.4BLM, RECQL, WRN
8DNA helicase activityGO:000367810.3RECQL, RECQL5, WRN
9helicase activityGO:000438610.3BLM, HELLS, WRN
10single-stranded DNA bindingGO:000369710.3BLM, BRCA2, RAD51
11four-way junction helicase activityGO:000937810.0BLM, RECQL, RECQL4, RECQL5, WRN
12ATP-dependent 3-5 DNA helicase activityGO:004314010.0BLM, RECQL, RECQL4, RECQL5, WRN
13damaged DNA bindingGO:00036849.9BRCA1, FEN1, H2AFX
14ATP bindingGO:00055248.4ATM, BLM, HELLS, LIG1, LIG3, RAD51
15DNA bindingGO:00036776.9ATM, BRCA1, FEN1, H2AFX, LIG1, LIG3
16protein bindingGO:00055154.8ATM, BLM, BRCA1, BRCA2, FEN1, GP1BB

Sources for Bloom Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet