MCID: BLM001
MIFTS: 62

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:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Bloom Syndrome:

Name: Bloom Syndrome 51 11 70 47 24 25 53 69 12 49 38 13 67
Bloom-Torre-Machacek Syndrome 11 47 25
Congenital Telangiectatic Erythema 47 25
Bloom's Syndrome 25 26
Blm 47 69
Bls 47 69
 
Bs 47 69
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 47
Congenital Telangiectatic Erythema Syndrome 11
Bloom’s Syndrome 23
Bsyn 53

Characteristics:

Orphanet epidemiological data:

53
bloom syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult

HPO:

63
bloom syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 210900
Disease Ontology11 DOID:2717
MeSH38 D001816
NCIt44 C2903
Orphanet53 ORPHA125
SNOMED-CT61 4434006
MESH via Orphanet39 D001816
UMLS via Orphanet68 C0005859
ICD10 via Orphanet30 Q82.2
MedGen36 C0005859

Summaries for Bloom Syndrome

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NIH Rare Diseases:47 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 blau syndrome and stuttering, 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_ATM/ATR regulation of G1/S checkpoint and BARD1 signaling events. Affiliated tissues include skin, lung and bone, and related mouse phenotypes are integument and adipose tissue.

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:25 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:51 Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency;... (210900) more...

UniProtKB/Swiss-Prot:69 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:70 Bloom syndrome (often abbreviated as BS in literature), also known as Bloom-Torre-Machacek syndrome, is... more...

GeneReviews for NBK1398

Related Diseases for Bloom Syndrome

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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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Symptoms by clinical synopsis from OMIM:

210900

Clinical features from OMIM:

210900

Human phenotypes related to Bloom Syndrome:

 63 53 (show all 64)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sinusitis63 53 hallmark (90%) Very frequent (99-80%) HP:0000246
2 dolichocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000268
3 narrow face63 53 hallmark (90%) Very frequent (99-80%) HP:0000275
4 intrauterine growth retardation63 53 hallmark (90%) Very frequent (99-80%) HP:0001511
5 diarrhea63 53 hallmark (90%) Very frequent (99-80%) HP:0002014
6 recurrent respiratory infections63 53 hallmark (90%) Very frequent (99-80%) HP:0002205
7 delayed skeletal maturation63 53 hallmark (90%) Very frequent (99-80%) HP:0002750
8 abnormality of chromosome stability63 53 hallmark (90%) Very frequent (99-80%) HP:0003220
9 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
10 irregular hyperpigmentation63 hallmark (90%) HP:0007400
11 hypoplasia of the zygomatic bone63 hallmark (90%) HP:0010669
12 micrognathia63 typical (50%) HP:0000347
13 cutaneous photosensitivity63 53 typical (50%) Frequent (79-30%) HP:0000992
14 short nose63 53 typical (50%) Frequent (79-30%) HP:0003196
15 telangiectasia of the skin63 typical (50%) HP:0100585
16 decreased fertility63 occasional (7.5%) HP:0000144
17 microcephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000252
18 abnormality of the pinna63 occasional (7.5%) HP:0000377
19 sacral dimple63 53 occasional (7.5%) Occasional (29-5%) HP:0000960
20 hyperhidrosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000975
21 hypopigmented skin patches63 53 occasional (7.5%) Occasional (29-5%) HP:0001053
22 hand polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001161
23 acute leukemia63 53 occasional (7.5%) Occasional (29-5%) HP:0002488
24 lymphoma63 53 occasional (7.5%) Occasional (29-5%) HP:0002665
25 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
26 neoplasm of the gastrointestinal tract63 53 occasional (7.5%) Occasional (29-5%) HP:0007378
27 ichthyosis63 53 occasional (7.5%) Occasional (29-5%) HP:0008064
28 neoplasm of the skin63 occasional (7.5%) HP:0008069
29 reduced number of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0009804
30 cognitive impairment63 occasional (7.5%) HP:0100543
31 azoospermia63 53 Occasional (29-5%) HP:0000027
32 cryptorchidism63 HP:0000028
33 malar flattening63 53 Very frequent (99-80%) HP:0000272
34 protruding ear63 53 Occasional (29-5%) HP:0000411
35 prominent nose63 HP:0000448
36 agenesis of maxillary lateral incisor63 HP:0000690
37 decreased fertility in females63 53 Occasional (29-5%) HP:0000868
38 cafe-au-lait spot63 HP:0000957
39 hypertrichosis63 HP:0000998
40 syndactyly63 HP:0001159
41 intellectual disability, mild63 53 Occasional (29-5%) HP:0001256
42 specific learning disability63 HP:0001328
43 high pitched voice63 53 Frequent (79-30%) HP:0001620
44 leukemia63 HP:0001909
45 bronchiectasis63 HP:0002110
46 iga deficiency63 53 Occasional (29-5%) HP:0002720
47 igm deficiency63 53 Occasional (29-5%) HP:0002850
48 squamous cell carcinoma63 53 Occasional (29-5%) HP:0002860
49 clinodactyly of the 5th finger63 HP:0004209
50 igg deficiency63 53 Occasional (29-5%) HP:0004315
51 spotty hyperpigmentation63 53 Very frequent (99-80%) HP:0005585
52 spotty hypopigmentation63 HP:0005590
53 facial telangiectasia in butterfly midface distribution63 53 Very frequent (99-80%) HP:0005598
54 type ii diabetes mellitus63 HP:0005978
55 chronic lung disease63 HP:0006528
56 postnatal growth retardation63 53 Very frequent (99-80%) HP:0008897
57 abnormality of the face53 Frequent (79-30%)
58 abnormality of the nose53 Very frequent (99-80%)
59 abnormality of the skin53 Very frequent (99-80%)
60 neoplasm53 Very frequent (99-80%)
61 decreased antibody level in blood53 Occasional (29-5%)
62 cheekbone underdevelopment53 Frequent (79-30%)
63 erythema53 Very frequent (99-80%)
64 teleangiectasia of the skin53 Frequent (79-30%)

Drugs & Therapeutics for Bloom Syndrome

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Drugs for Bloom Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
2HormonesPhase 213979
3Hormone AntagonistsPhase 212778

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 Syndrome26 24 BLM

Anatomical Context for Bloom Syndrome

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MalaCards organs/tissues related to Bloom Syndrome:

35
Skin, Lung, Bone, Eye, B cells, Breast, Colon

Animal Models for Bloom Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Bloom Syndrome:

40 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2ATM, BLM, HELLS, LIG1, RECQL4, WRN
2MP:00053758.0ATM, FEN1, HELLS, RECQL4, WRN
3MP:00053797.9ATM, FEN1, HELLS, LIG1, RECQL4, WRN
4MP:00020067.7ATM, BLM, FEN1, LIG1, PML, RECQL4
5MP:00053807.3ATM, BLM, FEN1, HELLS, LIG1, LIG3
6MP:00053877.2ATM, BLM, FEN1, HELLS, LIG1, PML
7MP:00053977.1ATM, BLM, FEN1, HELLS, LIG1, PML
8MP:00053786.7ATM, BLM, FEN1, HELLS, LIG1, LIG3
9MP:00107686.3ATM, BLM, FEN1, HELLS, LIG1, LIG3
10MP:00053845.6ATM, BLM, FEN1, HELLS, LIG1, LIG3

Publications for Bloom Syndrome

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Articles related to Bloom Syndrome:

(show top 50)    (show all 220)
idTitleAuthorsYear
1
Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction. (27989672)
2017
2
Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks. (28058110)
2016
3
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome. (27597923)
2016
4
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. (26340805)
2015
5
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? (25341612)
2014
6
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. (24435566)
2014
7
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (23509288)
2013
8
Proton beam therapy for malignancy in Bloom syndrome. (23443610)
2013
9
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. (24932421)
2013
10
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports. (24377487)
2013
11
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. (23708797)
2013
12
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. (21300576)
2011
13
An unusual case of Bloom syndrome presenting with basal cell carcinoma. (19076197)
2009
14
Bloom syndrome with lung involvement. (20442845)
2009
15
Lupus-like histopathology in bloom syndrome: reexamining the clinical and histologic implications of photosensitivity. (19820394)
2009
16
Bloom syndrome helicase stimulates RAD51 DNA strand exchange activity through a novel mechanism. (19632996)
2009
17
Differential expression of Werner and Bloom syndrome genes in the peripheral blood of HIV-1 infected patients. (17321898)
2007
18
Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases. (15965237)
2005
19
Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. (15137905)
2004
20
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. (11281456)
2001
21
Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies. (11454428)
2001
22
Selective cleavage of BLM, the bloom syndrome protein, during apoptotic cell death. (11154689)
2001
23
Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. (10728666)
2000
24
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. (10647186)
1999
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
High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. (10464606)
1998
28
A case of Bloom syndrome with conjunctival telangiectasia. (9144698)
1997
29
Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability. (8637501)
1996
30
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
31
Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. (8079989)
1994
32
Bloom syndrome and maternal uniparental disomy for chromosome 15. (7912890)
1994
33
Uncorrected SCE levels of Bloom syndrome cells by cell hybridization with malignant cells with 14q32 structural abnormalities. (8374900)
1993
34
p53 mutation in fresh lymphocytes, B-lymphoblastoid cell lines and their transformed cell lines originating from Bloom syndrome patients. (8330285)
1993
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:

69
id Symbol AA change Variation ID SNP ID
1BLMp.Gln672ArgVAR_006901rs747281324
2BLMp.Thr843IleVAR_006902rs137853152
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 74)
id Gene Variation Type Significance SNP ID Assembly Location
1BLMNM_000057.3(BLM): c.1642C> T (p.Gln548Ter)SNVPathogenicrs200389141GRCh38Chr 15, 90761015: 90761015
2BLMNM_000057.3(BLM): c.2695C> T (p.Arg899Ter)SNVLikely pathogenic, Pathogenicrs587779884GRCh38Chr 15, 90784953: 90784953
3BLMNM_000057.3(BLM): c.3415C> T (p.Arg1139Ter)SNVPathogenicrs587783037GRCh38Chr 15, 90803577: 90803577
4BLMNM_000057.3(BLM): c.2250_2251insAAAT (p.Leu751Lysfs)insertionLikely pathogenic, Pathogenicrs786204471GRCh38Chr 15, 90766966: 90766967
5BLMNM_000057.3(BLM): c.991_995delAAAGA (p.Lys331Glyfs)deletionLikely pathogenicrs786204524GRCh38Chr 15, 90754842: 90754846
6BLMNM_000057.3(BLM): c.2015A> G (p.Gln672Arg)SNVLikely pathogenicrs747281324GRCh38Chr 15, 90763098: 90763098
7BLMNM_000057.3(BLM): c.581_582delTT (p.Phe194Terfs)deletionLikely pathogenicrs786204640GRCh38Chr 15, 90749849: 90749850
8BLMNM_000057.3(BLM): c.3028delG (p.Asp1010Metfs)deletionLikely pathogenicrs780379121GRCh38Chr 15, 90794175: 90794175
9BLMNM_000057.3(BLM): c.2207_2212delATCTGAins7indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
10BLMNM_001287246.1(BLM): c.3014_3015insTATCA (p.Met1006Ilefs)insertionLikely pathogenicrs797045115GRCh38Chr 15, 90790839: 90790840
11BLMNM_000057.3(BLM): c.2580_2581delTA (p.His860Glnfs)deletionPathogenicrs864622347GRCh38Chr 15, 90782846: 90782847
12BLMNM_000057.3(BLM): c.3558+1G> TSNVLikely pathogenic, Pathogenicrs148969222GRCh38Chr 15, 90803721: 90803721
13BLMNM_000057.3(BLM): c.2206dupT (p.Tyr736Leufs)duplicationPathogenicrs886051551GRCh37Chr 15, 91310152: 91310152
14BLMNM_000057.2: c.3305_3306delATdeletionLikely pathogenicChr na, -1: -1
15BLMNM_000057.2: c.4000_4004del5deletionLikely pathogenicChr na, -1: -1
16BLMNM_000057.2: c.443dupTduplicationLikely pathogenicChr na, -1: -1
17BLMNM_000057.2: c.98+1G> TSNVLikely pathogenicChr na, -1: -1
18BLMNM_000057.2: c.1720_1735del16deletionLikely pathogenicChr na, -1: -1
19BLMNM_000057.2: c.2720_2726del7deletionLikely pathogenicChr na, -1: -1
20BLMNM_000057.2: c.3638delAdeletionLikely pathogenicChr na, -1: -1
21BLMNM_000057.2: c.2T> CSNVLikely pathogenicChr na, -1: -1
22BLMNM_000057.2: c.2821C> TSNVLikely pathogenicChr na, -1: -1
23BLMNM_000057.2: c.3022delGdeletionLikely pathogenicChr na, -1: -1
24BLMNM_000057.2: c.3855C> ASNVLikely pathogenicChr na, -1: -1
25BLMNM_000057.2: c.3400G> TSNVLikely pathogenicChr na, -1: -1
26BLMNM_000057.2: c.3875-2A> GSNVLikely pathogenicChr na, -1: -1
27BLMNM_000057.2: c.1764_1777del14deletionLikely pathogenicChr na, -1: -1
28BLMNC_000015.9: g.91303887G> ASNVLikely pathogenicChr na, -1: -1
29BLMNC_000015.9: g.91290721G> ASNVLikely pathogenicChr na, -1: -1
30BLMNM_000057.2: c.1479_1480delTAdeletionLikely pathogenicChr na, -1: -1
31BLMNC_000015.9: g.91298164_91298165delTGdeletionLikely pathogenicChr na, -1: -1
32BLMNC_000015.9: g.91347505dupAduplicationLikely pathogenicChr na, -1: -1
33BLMNC_000015.9: g.91293160_91293163delCTGAdeletionLikely pathogenicChr na, -1: -1
34BLMNM_000057.2: c.1722_1725delAGCAinsGGCindelLikely pathogenicChr na, -1: -1
35BLMNM_000057.2: c.1003_1006dupCTTAduplicationLikely pathogenicChr na, -1: -1
36BLMNM_000057.2: c.298_299delCAdeletionLikely pathogenicChr na, -1: -1
37BLMNM_000057.2: c.2824-2A> TSNVLikely pathogenicChr na, -1: -1
38BLMNM_000057.2: c.1795delAdeletionLikely pathogenicChr na, -1: -1
39BLMNM_000057.2: c.1740delCdeletionLikely pathogenicChr na, -1: -1
40BLMNM_000057.3(BLM): c.1088-2A> GSNVPathogenicrs367543015GRCh37Chr 15, 91303375: 91303375
41BLMNM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs)duplicationPathogenicrs367543043GRCh37Chr 15, 91304147: 91304147
42BLMNM_000057.3(BLM): c.1628T> A (p.Leu543Ter)SNVPathogenicrs367543038GRCh37Chr 15, 91304231: 91304231
43BLMNM_000057.3(BLM): c.2074+1G> TSNVLikely pathogenic, Pathogenicrs367543036GRCh37Chr 15, 91306388: 91306388
44BLMNM_000057.3(BLM): c.2098C> T (p.Gln700Ter)SNVPathogenicrs367543028GRCh37Chr 15, 91308549: 91308549
45BLMNM_000057.3(BLM): c.2193+2T> GSNVPathogenicrs367543040GRCh37Chr 15, 91308646: 91308646
46BLMNM_000057.2(BLM): c.2308-953_2555+4719deldeletionPathogenicGRCh37Chr 15, 91311410: 91317535
47BLMNM_000057.3(BLM): c.2406+2T> GSNVPathogenicrs367543016GRCh37Chr 15, 91312463: 91312463
48BLMNM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs)deletionPathogenicrs367543024GRCh37Chr 15, 91312767: 91312768
49BLMNM_000057.3(BLM): c.2643G> A (p.Trp881Ter)SNVPathogenicrs367543039GRCh37Chr 15, 91326139: 91326139
50BLMNM_000057.3(BLM): c.275delA (p.Asn92Metfs)deletionPathogenicrs367543027GRCh37Chr 15, 91292773: 91292773
51BLMNM_000057.3(BLM): c.2855G> T (p.Gly952Val)SNVPathogenicrs367543034GRCh37Chr 15, 91333910: 91333910
52BLMNM_000057.3(BLM): c.2887C> T (p.His963Tyr)SNVPathogenicrs367543023GRCh37Chr 15, 91333942: 91333942
53BLMNM_000057.3(BLM): c.2923delC (p.Gln975Lysfs)deletionPathogenicrs367543014GRCh37Chr 15, 91333978: 91333978
54BLMNM_000057.3(BLM): c.311C> A (p.Ser104Ter)SNVPathogenicrs367543030GRCh37Chr 15, 91292809: 91292809
55BLMNM_000057.3(BLM): c.3164G> C (p.Cys1055Ser)SNVPathogenicrs367543029GRCh37Chr 15, 91337541: 91337541
56BLMNM_000057.3(BLM): c.3191A> T (p.Asp1064Val)SNVPathogenicrs367543032GRCh37Chr 15, 91337568: 91337568
57BLMNM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr)SNVPathogenicrs367543025GRCh37Chr 15, 91337574: 91337574
58BLMNM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs)duplicationPathogenicrs367543022GRCh37Chr 15, 91341432: 91341432
59BLMNM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs)insertionPathogenicrs367543037GRCh37Chr 15, 91341464: 91341465
60BLMNM_000057.3(BLM): c.3278C> G (p.Ser1093Ter)SNVPathogenicrs367543017GRCh37Chr 15, 91341487: 91341487
61BLMNM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs)deletionLikely pathogenic, Pathogenicrs367543033GRCh37Chr 15, 91346867: 91346868
62BLMNM_000057.3(BLM): c.3558+1G> ASNVPathogenicrs148969222GRCh37Chr 15, 91346951: 91346951
63BLMNM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs)deletionPathogenicrs367543018GRCh37Chr 15, 91347425: 91347425
64BLMNM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs)deletionPathogenicrs367543020GRCh37Chr 15, 91347519: 91347519
65BLMNM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs)duplicationPathogenicrs367543021GRCh37Chr 15, 91347565: 91347565
66BLMNM_000057.3(BLM): c.3847C> T (p.Gln1283Ter)SNVPathogenicrs367543031GRCh37Chr 15, 91352462: 91352462
67BLMNM_000057.3(BLM): c.582delT (p.Phe194Leufs)deletionPathogenicrs367543026GRCh37Chr 15, 91293080: 91293080
68BLMNM_000057.3(BLM): c.772_773delCT (p.Leu258Glufs)deletionLikely pathogenic, Pathogenicrs367543013GRCh37Chr 15, 91293270: 91293271
69BLMNM_000057.3(BLM): c.3751+(?_0)_*(177_?)deldeletionPathogenicGRCh37Chr 15, 91347589: 91358686
70BLMNM_000057.3(BLM): c.2407dupT (p.Trp803Leufs)duplicationPathogenicrs367543012GRCh37Chr 15, 91312668: 91312668
71BLMNM_000057.3(BLM): c.2488dupA (p.Thr830Asnfs)duplicationLikely pathogenic, Pathogenicrs367543019GRCh37Chr 15, 91312749: 91312749
72BLMNM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs)indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
73BLMNM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer)deletionPathogenicrs367543035GRCh37Chr 15, 91293055: 91293057
74BLMNM_000057.3(BLM): c.3107G> T (p.Cys1036Phe)SNVPathogenicrs137853153GRCh37Chr 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 15)
idSuper pathwaysScoreTop Affiliating Genes
19.8ATM, BLM
29.7ATM, RAD51
39.6FEN1, WRN
49.5ATM, BLM, WRN
5
Show member pathways
9.4ATM, BLM, RAD51
6
Show member pathways
9.1ATM, BLM, RAD51, WRN
7
Show member pathways
9.0ATM, BLM, PML, WRN
89.0ATM, BLM, PML, RAD51
9
Show member pathways
8.9FEN1, LIG1, LIG3, WRN
10
Show member pathways
8.9ATM, BLM, HELLS, RAD51
118.4ATM, BLM, LIG1, PML, RAD51, WRN
12
Show member pathways
8.4ATM, FEN1, LIG1, LIG3, RAD51
13
Show member pathways
8.2ATM, BLM, FEN1, LIG1, RAD51, WRN
14
Show member pathways
7.8ATM, BLM, FEN1, LIG1, LIG3, RAD51
156.8ATM, BLM, FEN1, RAD51, RECQL, RECQL4

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:000080010.6BLM, RAD51
2chromosome, telomeric regionGO:000078110.2ATM, BLM
3PML bodyGO:001660510.1BLM, PML, RAD51
4chromosomeGO:00056949.3RECQL, RECQL4, RECQL5
5nuclear chromosome, telomeric regionGO:00007848.9ATM, FEN1, PML, RAD51, WRN
6nucleolusGO:00057308.7BLM, FEN1, PML, RAD51, WRN
7nucleoplasmGO:00056546.3ATM, BLM, FEN1, LIG1, LIG3, PML
8nucleusGO:00056345.2ATM, BLM, FEN1, HELLS, LIG1, LIG3

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1cellular response to camptothecinGO:007275710.5BLM, RAD51
2nucleotide-excision repair, DNA gap fillingGO:000629710.5LIG1, LIG3
3response to X-rayGO:001016510.4BLM, RAD51
4cellular response to ionizing radiationGO:007147910.4BLM, RAD51
5cellular response to hydroxyureaGO:007271110.3BLM, RAD51
6regulation of protein phosphorylationGO:000193210.2PML, RAD51
7cell agingGO:000756910.1PML, WRN
8DNA double-strand break processingGO:000072910.1ATM, BLM
9protein sumoylationGO:001692510.0BLM, PML, WRN
10replication fork processingGO:003129710.0BLM, RAD51, WRN
11cellular response to gamma radiationGO:00714809.8ATM, RAD51, WRN
12DNA biosynthetic processGO:00718979.8LIG1, LIG3
13V(D)J recombinationGO:00331519.8ATM, LIG1, LIG3
14reciprocal meiotic recombinationGO:00071319.7ATM, RAD51
15DNA strand renaturationGO:00007339.5BLM, RECQL, RECQL4
16DNA recombinationGO:00063109.5BLM, RAD51, RECQL4
17DNA synthesis involved in DNA repairGO:00007319.5ATM, BLM, RAD51, WRN
18cellular response to DNA damage stimulusGO:00069749.5ATM, BLM, RAD51, WRN
19strand displacementGO:00007329.4ATM, BLM, RAD51, WRN
20regulation of signal transduction by p53 class mediatorGO:19017969.4ATM, BLM, PML, WRN
21telomere maintenance via recombinationGO:00007229.3FEN1, LIG1, RAD51, WRN
22DNA metabolic processGO:00062599.3LIG1, RECQL5, WRN
23cell divisionGO:00513018.9HELLS, LIG1, LIG3, RECQL5
24base-excision repairGO:00062848.8FEN1, LIG1, RECQL4, WRN
25double-strand break repairGO:00063028.7FEN1, LIG3, RECQL4, WRN
26DNA duplex unwindingGO:00325088.5BLM, RECQL, RECQL4, RECQL5, WRN
27double-strand break repair via homologous recombinationGO:00007248.2ATM, BLM, FEN1, LIG3, RAD51, RECQL
28DNA replicationGO:00062608.0ATM, BLM, FEN1, RECQL4, RECQL5, WRN
29DNA repairGO:00062816.8ATM, BLM, FEN1, LIG1, RAD51, RECQL

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1DNA ligase (ATP) activityGO:000391010.6LIG1, LIG3
2DNA ligase activityGO:000390910.5LIG1, LIG3
3G-quadruplex DNA bindingGO:005188010.5BLM, WRN
4ATP-dependent DNA helicase activityGO:00040039.8BLM, RECQL, WRN
5exonuclease activityGO:00045279.8FEN1, WRN
6DNA helicase activityGO:00036789.8RECQL, RECQL5, WRN
7bubble DNA bindingGO:00004059.7BLM, RECQL4, WRN
8helicase activityGO:00043869.6BLM, HELLS, WRN
9annealing helicase activityGO:00363109.5BLM, RECQL, RECQL4
10four-way junction helicase activityGO:00093788.9BLM, RECQL, RECQL4, RECQL5, WRN
11ATP-dependent 3-5 DNA helicase activityGO:00431408.9BLM, RECQL, RECQL4, RECQL5, WRN
12DNA bindingGO:00036777.2ATM, FEN1, LIG1, LIG3, PML, RECQL
13ATP bindingGO:00055246.4ATM, BLM, HELLS, LIG1, LIG3, RAD51

Sources for Bloom Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet