MCID: BLM001
MIFTS: 63

Bloom Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases categories

Aliases & Classifications for Bloom Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Bloom Syndrome:

Name: Bloom Syndrome 49 10 11 68 45 23 47 12 51 65 36 67
Bloom's Syndrome 21 22 23 24
Bloom-Torre-Machacek Syndrome 10 45 23
Congenital Telangiectatic Erythema 45 23
Bls 45 67
 
Blm 45 67
Bs 45 67
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 45
Congenital Telangiectatic Erythema Syndrome 10
Bsyn 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
bloom syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult


External Ids:

OMIM49 210900
Disease Ontology10 DOID:2717
NCIt42 C2903
MeSH36 D001816
Orphanet51 125
SNOMED-CT59 4434006
ICD10 via Orphanet28 Q82.2
MESH via Orphanet37 D001816
UMLS via Orphanet66 C0005859
MedGen34 C0005859

Summaries for Bloom Syndrome

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NIH Rare Diseases:45 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's syndrome, is related to werner syndrome and rothmund-thomson syndrome, and has symptoms including sinusitis, dolichocephaly and narrow face. An important gene associated with Bloom Syndrome is BLM (Bloom Syndrome, RecQ Helicase-Like), and among its related pathways are DNA damage_NHEJ mechanisms of DSBs repair and BARD1 signaling events. Affiliated tissues include skin, lung and bone, and related mouse phenotypes are embryogenesis and growth/size/body.

Genetics Home Reference:23 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:49 Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency;... (210900) more...

UniProtKB/Swiss-Prot:67 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:68 Bloom syndrome (often abbreviated as BS in literature), also known as Bloom–Torre–Machacek syndrome,... more...

GeneReviews summary for bloom

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 180)
idRelated DiseaseScoreTop Affiliating Genes
1werner syndrome29.7BLM, FEN1, HELLS, RECQL, RECQL4, WRN
2rothmund-thomson syndrome29.6BLM, HELLS, RECQL, RECQL4, WRN
3burkitt lymphoma10.4
4ataxia-telangiectasia10.4
5ataxia10.4
6mycobacterium avium complex disease10.3
7lymphosarcoma10.3
8leukemia10.3
9diabetes mellitus, noninsulin-dependent 110.3
10essential tremor10.3
11mody, type ii10.3
12diabetes mellitus, insulin-dependent10.3
13diabetes mellitus, noninsulin-dependent, 210.3
14complex regional pain syndrome10.3
15obstructive lung disease10.3
16bare lymphocyte syndrome, type ii, complementation group c10.2
17leprosy10.2
18diabetes mellitus, noninsulin-dependent10.2
19mody, type iv10.2
20pulmonary disease, chronic obstructive10.2
21joint disorders10.2
22autoimmune disease of musculoskeletal system10.2
23lipoid nephrosis10.2
24reactive arthritis10.2
25arthropathy10.2
26connective tissue disease10.2
27enthesopathy10.2
28hypersensitivity reaction type ii disease10.2
29non-suppurative otitis media10.2
30hiv-110.2
31breast cancer10.2
32b-cell lymphomas10.2
33ovarian cancer10.2
34stomach cancer10.2
35prostate cancer10.2
36melanoma10.2
37prostatitis10.2
38autoimmune disease 410.2
39autoimmune disease 210.2
40diabetes mellitus, noninsulin-dependent, 510.2
41glucose metabolism disease10.2
42withdrawal disorder10.2
43rheumatoid arthritis10.1
44bare lymphocyte syndrome, type i10.1
45arthritis10.1
46blind loop syndrome10.1
47secondary syphilis10.1
48autoimmune disease 110.1
49asthma10.1
50migraine with or without aura 110.1

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:

 51 (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 65)
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 teleangiectasia 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 autosomal recessive inheritance HP:0000007
32 azoospermia HP:0000027
33 cryptorchidism HP:0000028
34 microcephaly HP:0000252
35 dolichocephaly HP:0000268
36 malar flattening HP:0000272
37 narrow face HP:0000275
38 protruding ear HP:0000411
39 prominent nose HP:0000448
40 agenesis of maxillary lateral incisor HP:0000690
41 decreased fertility in females HP:0000868
42 cafe-au-lait spot HP:0000957
43 cutaneous photosensitivity HP:0000992
44 hypertrichosis HP:0000998
45 syndactyly HP:0001159
46 hand polydactyly HP:0001161
47 intellectual disability, mild HP:0001256
48 specific learning disability HP:0001328
49 intrauterine growth retardation HP:0001511
50 high pitched voice HP:0001620
51 leukemia HP:0001909
52 bronchiectasis HP:0002110
53 lymphoma HP:0002665
54 iga deficiency HP:0002720
55 igm deficiency HP:0002850
56 squamous cell carcinoma HP:0002860
57 abnormality of chromosome stability HP:0003220
58 clinodactyly of the 5th finger HP:0004209
59 igg deficiency HP:0004315
60 spotty hyperpigmentation HP:0005585
61 spotty hypopigmentation HP:0005590
62 facial telangiectasia in butterfly midface distribution HP:0005598
63 type ii diabetes mellitus HP:0005978
64 chronic lung disease HP:0006528
65 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 Syndrome22 24 BLM

Anatomical Context for Bloom Syndrome

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MalaCards organs/tissues related to Bloom Syndrome:

33
Skin, Lung, Bone, B cells, Eye, Breast, Colon

Animal Models for Bloom Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Bloom Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.7ATM, BLM, FEN1, HELLS, LIG1, LIG3
2MP:00053787.3ATM, BLM, FEN1, HELLS, LIG1, LIG3
3MP:00020067.0ATM, BLM, FEN1, LIG1, PML, RECQL4
4MP:00053976.7ATM, BLM, FEN1, HELLS, LIG1, PML
5MP:00053876.5ATM, BLM, FEN1, HELLS, LIG1, PML
6MP:00107686.0ATM, BLM, FEN1, HELLS, LIG1, LIG3
7MP:00053845.5ATM, BLM, FEN1, HELLS, LIG1, LIG3

Publications for Bloom Syndrome

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Articles related to Bloom Syndrome:

(show top 50)    (show all 208)
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
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
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)
2000
21
Characterization of the nuclear localization signal in the DNA helicase responsible for Bloom syndrome. (10762650)
2000
22
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. (10647186)
1999
23
Growth deficiency and malnutrition in Bloom syndrome. (10190923)
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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UniProtKB/Swiss-Prot genetic disease variations for Bloom Syndrome:

67
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:

5 (show all 44)
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.2250_2251insAAAT (p.Leu751Lysfs)insertionLikely 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)single nucleotide variantLikely 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_000057.3(BLM): c.1088-2A> Gsingle nucleotide variantPathogenicrs367543015GRCh37Chr 15, 91303375: 91303375
11BLMNM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs)duplicationPathogenicrs367543043GRCh37Chr 15, 91304147: 91304147
12BLMNM_000057.3(BLM): c.1628T> A (p.Leu543Ter)single nucleotide variantPathogenicrs367543038GRCh37Chr 15, 91304231: 91304231
13BLMNM_000057.3(BLM): c.2074+1G> Tsingle nucleotide variantPathogenicrs367543036GRCh37Chr 15, 91306388: 91306388
14BLMNM_000057.3(BLM): c.2098C> T (p.Gln700Ter)single nucleotide variantPathogenicrs367543028GRCh37Chr 15, 91308549: 91308549
15BLMNM_000057.3(BLM): c.2193+2T> Gsingle nucleotide variantPathogenicrs367543040GRCh37Chr 15, 91308646: 91308646
16BLMNM_000057.2(BLM): c.2308-953_2555+4719deldeletionPathogenicGRCh37Chr 15, 91311410: 91317535
17BLMNM_000057.3(BLM): c.2406+2T> Gsingle nucleotide variantPathogenicrs367543016GRCh37Chr 15, 91312463: 91312463
18BLMNM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs)deletionPathogenicrs367543024GRCh37Chr 15, 91312767: 91312768
19BLMNM_000057.3(BLM): c.2643G> A (p.Trp881Ter)single nucleotide variantPathogenicrs367543039GRCh37Chr 15, 91326139: 91326139
20BLMNM_000057.3(BLM): c.275delA (p.Asn92Metfs)deletionPathogenicrs367543027GRCh37Chr 15, 91292773: 91292773
21BLMNM_000057.3(BLM): c.2855G> T (p.Gly952Val)single nucleotide variantPathogenicrs367543034GRCh37Chr 15, 91333910: 91333910
22BLMNM_000057.3(BLM): c.2887C> T (p.His963Tyr)single nucleotide variantPathogenicrs367543023GRCh37Chr 15, 91333942: 91333942
23BLMNM_000057.3(BLM): c.2923delC (p.Gln975Lysfs)deletionPathogenicrs367543014GRCh37Chr 15, 91333978: 91333978
24BLMNM_000057.3(BLM): c.311C> A (p.Ser104Ter)single nucleotide variantPathogenicrs367543030GRCh37Chr 15, 91292809: 91292809
25BLMNM_000057.3(BLM): c.3164G> C (p.Cys1055Ser)single nucleotide variantPathogenicrs367543029GRCh37Chr 15, 91337541: 91337541
26BLMNM_000057.3(BLM): c.3191A> T (p.Asp1064Val)single nucleotide variantPathogenicrs367543032GRCh37Chr 15, 91337568: 91337568
27BLMNM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr)single nucleotide variantPathogenicrs367543025GRCh37Chr 15, 91337574: 91337574
28BLMNM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs)duplicationPathogenicrs367543022GRCh37Chr 15, 91341432: 91341432
29BLMNM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs)insertionPathogenicrs367543037GRCh37Chr 15, 91341464: 91341465
30BLMNM_000057.3(BLM): c.3278C> G (p.Ser1093Ter)single nucleotide variantPathogenicrs367543017GRCh37Chr 15, 91341487: 91341487
31BLMNM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs)deletionPathogenicrs367543033GRCh37Chr 15, 91346867: 91346868
32BLMNM_000057.3(BLM): c.3558+1G> Asingle nucleotide variantPathogenicrs148969222GRCh37Chr 15, 91346951: 91346951
33BLMNM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs)deletionPathogenicrs367543018GRCh37Chr 15, 91347425: 91347425
34BLMNM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs)deletionPathogenicrs367543020GRCh37Chr 15, 91347519: 91347519
35BLMNM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs)duplicationPathogenicrs367543021GRCh37Chr 15, 91347565: 91347565
36BLMNM_000057.3(BLM): c.3847C> T (p.Gln1283Ter)single nucleotide variantPathogenicrs367543031GRCh37Chr 15, 91352462: 91352462
37BLMNM_000057.3(BLM): c.582delT (p.Phe194Leufs)deletionPathogenicrs367543026GRCh37Chr 15, 91293080: 91293080
38BLMNM_000057.3(BLM): c.772_773delCT (p.Leu258Glufs)deletionLikely pathogenic, Pathogenicrs367543013GRCh37Chr 15, 91293270: 91293271
39BLMNM_000057.3(BLM): c.3751+(?_0)_*(177_?)deldeletionPathogenicGRCh38Chr 15, 90804359: 90815456
40BLMNM_000057.3(BLM): c.2407dupT (p.Trp803Leufs)duplicationPathogenicrs367543012GRCh37Chr 15, 91312668: 91312668
41BLMNM_000057.3(BLM): c.2488dupA (p.Thr830Asnfs)duplicationPathogenicrs367543019GRCh37Chr 15, 91312749: 91312749
42BLMNM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs)indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
43BLMNM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer)deletionPathogenicrs367543035GRCh37Chr 15, 91293055: 91293057
44BLMNM_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 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FEN1, WRN
29.7ATM, RAD51
39.5ATM, BLM, WRN
4
Show member pathways
9.4ATM, BLM, RAD51
59.4ATM, BLM, RAD51
6
Show member pathways
9.2ATM, PML, RAD51
7
Show member pathways
9.1ATM, BLM, RAD51, WRN
8
Show member pathways
9.1ATM, BLM, RAD51, WRN
9
Show member pathways
9.0ATM, BLM, HELLS, RAD51
108.9ATM, BLM, PML, RAD51
11
Show member pathways
8.4FEN1, LIG1, LIG3, UNG, WRN
128.3ATM, BLM, LIG1, PML, RAD51, WRN
13
Show member pathways
7.9ATM, FEN1, LIG1, LIG3, RAD51, UNG
147.6ATM, BLM, FEN1, RAD51, RECQL, RECQL4
15
Show member pathways
7.3ATM, BLM, FEN1, LIG1, LIG3, RAD51

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
2condensed nuclear chromosomeGO:000079410.3LIG3, RAD51
3chromosome, telomeric regionGO:000078110.2ATM, BLM
4PML bodyGO:00166059.9BLM, PML, RAD51
5nucleolusGO:00057308.9BLM, FEN1, PML, RAD51, WRN
6nucleoplasmGO:00056546.1ATM, BLM, FEN1, LIG1, LIG3, PML
7nucleusGO:00056345.2ATM, BLM, FEN1, HELLS, LIG1, LIG3

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1cellular response to camptothecinGO:007275710.6BLM, RAD51
2lagging strand elongationGO:000627310.5LIG1, LIG3
3negative regulation of DNA recombinationGO:004591010.5BLM, LIG3
4DNA ligationGO:000626610.4LIG1, LIG3
5nucleotide-excision repair, DNA gap fillingGO:000629710.4LIG1, LIG3
6cellular response to hydroxyureaGO:007271110.4BLM, RAD51
7DNA ligation involved in DNA repairGO:005110310.4LIG1, LIG3
8response to X-rayGO:001016510.3BLM, RAD51
9cellular response to ionizing radiationGO:007147910.3BLM, RAD51
10cell agingGO:000756910.1PML, WRN
11telomere maintenance via recombinationGO:000072210.1FEN1, LIG1
12replication fork processingGO:003129710.1BLM, RAD51, WRN
13DNA strand elongation involved in DNA replicationGO:000627110.1FEN1, LIG1
14reciprocal meiotic recombinationGO:000713110.0ATM, RAD51
15telomere maintenance via semi-conservative replicationGO:003220110.0FEN1, LIG1
16V(D)J recombinationGO:003315110.0ATM, LIG1, LIG3
17protein sumoylationGO:00169259.9BLM, PML, WRN
18DNA biosynthetic processGO:00718979.8LIG1, LIG3
19cellular response to gamma radiationGO:00714809.8ATM, RAD51, WRN
20double-strand break repair via nonhomologous end joiningGO:00063039.7ATM, LIG1, LIG3
21DNA strand renaturationGO:00007339.6BLM, RECQL, RECQL4
22telomere maintenanceGO:00007239.4ATM, FEN1, LIG1, WRN
23DNA metabolic processGO:00062599.3LIG1, RAD51, WRN
24double-strand break repair via synthesis-dependent strand annealingGO:00450039.2ATM, BLM, RAD51, WRN
25cellular response to DNA damage stimulusGO:00069749.0ATM, BLM, RAD51, WRN
26DNA duplex unwindingGO:00325088.9BLM, RECQL, RECQL4, WRN
27base-excision repairGO:00062848.6FEN1, LIG1, LIG3, UNG, WRN
28double-strand break repair via homologous recombinationGO:00007248.4ATM, BLM, FEN1, LIG1, LIG3, RAD51
29double-strand break repairGO:00063028.3ATM, BLM, FEN1, LIG1, LIG3, RAD51
30DNA recombinationGO:00063108.3BLM, LIG1, LIG3, RAD51, RECQL, RECQL4
31DNA replicationGO:00062608.2BLM, FEN1, LIG1, RECQL, RECQL4, WRN
32DNA repairGO:00062816.2ATM, BLM, FEN1, LIG1, LIG3, RAD51

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA ligase activityGO:000390910.5LIG1, LIG3
2DNA ligase (ATP) activityGO:000391010.5LIG1, LIG3
3four-way junction helicase activityGO:000937810.5BLM, WRN
4G-quadruplex DNA bindingGO:005188010.5BLM, WRN
5exonuclease activityGO:000452710.4FEN1, WRN
6bubble DNA bindingGO:000040510.0BLM, RECQL4, WRN
7DNA helicase activityGO:00036789.9RECQL, WRN
8helicase activityGO:00043869.8BLM, HELLS, WRN
9ATP-dependent DNA helicase activityGO:00040039.8BLM, RECQL, WRN
10annealing helicase activityGO:00363109.7BLM, RECQL, RECQL4
11ATP-dependent 3-5 DNA helicase activityGO:00431409.4BLM, RECQL, RECQL4, WRN
12ATP-dependent helicase activityGO:00080269.2BLM, RECQL, RECQL4, WRN
13DNA bindingGO:00036777.2ATM, BLM, FEN1, LIG1, LIG3, PML
14ATP bindingGO:00055246.9ATM, BLM, HELLS, LIG1, LIG3, RAD51

Sources for Bloom Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet