MCID: BLM001
MIFTS: 64

Bloom Syndrome malady

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

Aliases & Classifications for Bloom Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 21GeneReviews, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Bloom Syndrome:

Name: Bloom Syndrome 49 10 11 68 45 22 23 47 12 51 67 36 65
Bloom-Torre-Machacek Syndrome 10 45 23
Congenital Telangiectatic Erythema 45 23
Bloom's Syndrome 23 24
Blm 45 67
Bls 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
Bloom’s Syndrome 21
Bsyn 51

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
bloom syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 210900
Disease Ontology10 DOID:2717
MeSH36 D001816
NCIt42 C2903
Orphanet51 125
SNOMED-CT59 4434006
ICD10 via Orphanet28 Q82.2
MESH via Orphanet37 D001816
UMLS via Orphanet66 C0005859
MedGen34 C0005859
UMLS65 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-torre-machacek syndrome, is related to synpolydactyly and congenital pulmonary veins atresia or stenosis, and has symptoms including hypoplasia of the zygomatic bone, irregular hyperpigmentation and short stature. An important gene associated with Bloom Syndrome is BLM (Bloom Syndrome RecQ Like Helicase), and among its related pathways are Regulation of Telomerase and DNA damage_NHEJ mechanisms of DSBs repair. Affiliated tissues include skin, lung and bone, and related mouse phenotypes are adipose tissue and integument.

Disease Ontology:10 An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.

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, 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 55)
idRelated DiseaseScoreTop Affiliating Genes
1synpolydactyly10.5FEN1, LIG1, RAD51
2congenital pulmonary veins atresia or stenosis10.5BRCA1, BRCA2
3bronchiolitis obliterans10.4BRCA1, BRCA2
4autoimmune polyendocrine syndrome type 110.4BRCA1, BRCA2
5autoimmune disease of urogenital tract10.4BRCA1, BRCA2
6muscular dystrophy, congenital, megaconial type10.4LIG1, LIG3, RAD51
7malignant testicular leydig cell tumor10.4BRCA1, BRCA2
8pancreatic cancer 410.4BRCA1, BRCA2
9pancreatic serous cystadenocarcinoma10.4BRCA1, BRCA2
10mastitis10.3BRCA1, BRCA2
11vulvar alveolar soft part sarcoma10.3BRCA1, BRCA2
12blau syndrome10.3
13cystadenoma10.3BRCA1, BRCA2
14partial of retinal vein occlusion10.2BRCA1, BRCA2
15mixed cerebral palsy10.2ATM, HPRT1
16spondyloepimetaphyseal dysplasia, sponastrime type10.2BRCA1, BRCA2, RAD51
17breast cancer, childhood10.2ATM, BRCA1, BRCA2
18brca2 hereditary breast and ovarian cancer syndrome10.2ATM, BRCA1, BRCA2
19craniofacioskeletal syndrome10.2HPRT1, UNG
20lymphoma10.2
21internal auditory canal lipoma10.2ATM, BRCA1, BRCA2
22setariasis10.1BRCA1, BRCA2
23ataxia-telangiectasia10.1
24ataxia10.1
25choroid plexus papilloma10.1ATM, BRCA1, BRCA2
26endometrial mucinous adenocarcinoma10.0BRCA1, BRCA2
27synchronous bilateral breast carcinoma10.0ATM, BRCA1, BRCA2, RAD51
28werner syndrome10.0
29leukemia10.0
30common bile duct disease10.0ATM, BRCA1
31periocular meningioma10.0ATM, BRCA1, BRCA2, RAD51
32familial capillaro-venous leptomeningeal angiomatosis10.0ATM, BRCA1, BRCA2, RAD51
33hiv-19.9
34breast cancer9.9
35b-cell lymphomas9.9
36stomach cancer9.9
37ovarian cancer9.9
38peroxisome biogenesis disorder 5a9.8ATM, BRCA1, H2AFX, WRN
39short-rib thoracic dysplasia 3 with or without polydactyly9.8ATM, BLM, BRCA1, H2AFX
40baller-gerold syndrome9.8RECQL, RECQL4, RECQL5, WRN
41colorectal cancer9.8
42hepatocellular carcinoma9.8
43myelodysplastic syndrome9.8
44burkitt lymphoma9.8
45rothmund-thomson syndrome9.8
46acute leukemia9.8
47lymphoblastic leukemia9.8
48dubowitz syndrome9.8
49basal cell carcinoma9.8
50familial breast cancer9.8

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

Drugs & Therapeutics for Bloom Syndrome

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FDA approved drugs:

id Drug Name Active Ingredient(s)15 Company Approval Date
1
Arranon15 41 NELARABINE GlaxoSmithKline October 2005
FDA Label: Arranon
Disease/s that Drug Treats:Lymphoblastic Leukemia
Indications and Usage:15 ARRANON is a nucleoside metabolic inhibitor indicated for the treatment ofpatients with T-cell acute lymphoblastic leukemia and T-cell lymphoblasticlymphoma whose disease has not responded to or has relapsed followingtreatment with at least two chemotherapy regimens. This use is based on theinduction of complete responses. Randomized trials demonstrating increasedsurvival or other clinical benefit have not been conducted. (1)
DrugBank Targets:13 DNA
Mechanism of Action:15 
Target: DNA synthesis
Action: disruptor --> apoptosis
FDA: Nelarabine is a pro-drug of the deoxyguanosine analogue 9-β-D-arabinofuranosylguanine266 (ara-G), a nucleoside metabolic inhibitor. Nelarabine is demethylated by adenosine deaminase267 (ADA) to ara-G, mono-phosphorylated by deoxyguanosine kinase and deoxycytidine kinase, and268 subsequently converted to the active 5’-triphosphate, ara-GTP. Accumulation of ara-GTP in269 leukemic blasts allows for incorporation into deoxyribonucleic acid (DNA), leading to inhibition270 of DNA synthesis and cell death. Other mechanisms may contribute to the cytotoxic and271 systemic toxicity of nelarabine.
apoptosis
Medilexicon: Arranon is a prodrug of the cytotoxic deoxyguanosine analogue 9-ß-D-arabinofuranosylguanine (ara-G). The drug is ultimately metabolized into the active 5'-triphosphate ara-GTP, which disrupts DNA synthesis and induces apoptosis. Additional cytotoxic activities may exist, but these are not fully understood.
FDA: Nelarabine is a pro-drug of the deoxyguanosine analogue 9-β-D-arabinofuranosylguanine266 (ara-G), a nucleoside metabolic inhibitor. Nelarabine is demethylated by adenosine deaminase267 (ADA) to ara-G, mono-phosphorylated by deoxyguanosine kinase and deoxycytidine kinase, and268 subsequently converted to the active 5’-triphosphate, ara-GTP. Accumulation of ara-GTP in269 leukemic blasts allows for incorporation into deoxyribonucleic acid (DNA), leading to inhibition270 of DNA synthesis and cell death. Other mechanisms may contribute to the cytotoxic and271 systemic toxicity of nelarabine.
Drug info:
-->
2
Gardasil15 41 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006
FDA Label: Gardasil
Disease/s that Drug Treats:Cervical Cancer Caused by Human Papillomavirus
Indications and Usage:15 GARDASIL is a vaccine indicated in girls and women 9 through 26years of age for the prevention of the following diseases caused byHuman Papillomavirus (HPV) types included in the vaccine: Cervical, vulvar, vaginal, and anal cancer caused by HPV types 16and 18 (1.1) Genital warts (condyloma acuminata) caused by HPV types 6 and11 (1.1)And the following precancerous or dysplastic lesions caused by HPVtypes 6, 11, 16, and 18: Cervical intraepithelial neoplasia (CIN) grade 2/3 and Cervicaladenocarcinoma in situ (AIS) (1.1) Cervical intraepithelial neoplasia (CIN) grade 1 (1.1) Vulvar intraepithelial neoplasia (VIN) grade 2 and grade 3 (1.1) Vaginal intraepithelial neoplasia (VaIN) grade 2 and grade 3 (1.1) Anal intraepithelial neoplasia (AIN) grades 1, 2, and 3 (1.1)GARDASIL is indicated in boys and men 9 through 26 years of age forthe prevention of the following diseases caused by HPV types includedin the vaccine: Anal cancer caused by HPV types 16 and 18 (1.2) Genital warts (condyloma acuminata) caused by HPV types 6 and11 (1.2)And the following precancerous or dysplastic lesions caused by HPVtypes 6, 11, 16, and 18: Anal intraepithelial neoplasia (AIN) grades 1, 2, and 3. (1.2)Limitations of GARDASIL Use and Effectiveness: GARDASIL does not eliminate the necessity for women tocontinue to undergo recommended cervical cancer screening.(1.3, 17) Recipients of GARDASIL should not discontinue anal cancerscreening if it has been recommended by a health care provider.(1.3, 17) GARDASIL has not been demonstrated to provide protectionagainst disease from vaccine and non-vaccine HPV types to whicha person has previously been exposed through sexual activity.(1.3, 14.4, 14.5) GARDASIL is not intended to be used for treatment of activeexternal genital lesions; cervical, vulvar, vaginal, and analcancers; CIN; VIN; VaIN, or AIN. (1.3) GARDASIL has not been demonstrated to protect againstdiseases due to HPV types not contained in the vaccine. (1.3,14.4, 14.5) Not all vulvar, vaginal, and anal cancers are caused by HPV, andGARDASIL protects only against those vulvar, vaginal, and analcancers caused by HPV 16 and 18. (1.3) GARDASIL does not protect against genital diseases not causedby HPV. (1.3) Vaccination with GARDASIL may not result in protection in allvaccine recipients. (1.3) GARDASIL has not been demonstrated to prevent HPV-relatedCIN 2/3 or worse in women older than 26 years of age. (14.7)
DrugBank Targets: -
Mechanism of Action:15 
Target: humoral immune response
Action: inducer
FDA: HPV only infects human beings. Animal studies with analogous animal papillomaviruses suggest thatthe efficacy of L1 VLP vaccines may involve the development of humoral immune responses. Humanbeings develop a humoral immune response to the vaccine, although the exact mechanism of protectionis unknown.

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HormonesPhase 211748

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 BLM

Anatomical Context for Bloom Syndrome

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MalaCards organs/tissues related to Bloom Syndrome:

33
Skin, Lung, Bone, Breast, T cells, B cells, Thyroid

Animal Models for Bloom Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Bloom Syndrome:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9ATM, BRCA1, FEN1, HELLS, RECQL4, RMI1
2MP:00107718.5ATM, BLM, BRCA1, BRCA2, HELLS, HPRT1
3MP:00053808.1ATM, BLM, BRCA1, BRCA2, FEN1, HELLS
4MP:00020067.7ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
5MP:00053797.7ATM, BRCA1, BRCA2, FEN1, H2AFX, HELLS
6MP:00053877.0ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
7MP:00053766.9ATM, BRCA1, BRCA2, FEN1, GP1BB, H2AFX
8MP:00053976.8ATM, BLM, BRCA1, BRCA2, FEN1, GP1BB
9MP:00053786.6ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
10MP:00107686.3ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
11MP:00053846.2ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX

Publications for Bloom Syndrome

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Articles related to Bloom Syndrome:

(show top 50)    (show all 215)
idTitleAuthorsYear
1
Burkitt lymphoma in a child with Bloom syndrome. (26774895)
2016
2
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? (25341612)
2014
3
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. (24118499)
2013
4
Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein. (24257077)
2013
5
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (23509288)
2013
6
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. (22392978)
2012
7
An unusual case of Bloom syndrome presenting with basal cell carcinoma. (19076197)
2009
8
Bloom syndrome with lung involvement. (20442845)
2009
9
Telomeric D-loops containing 8-oxo-2'-deoxyguanosine are preferred substrates for Werner and Bloom syndrome helicases and are bound by POT1. (19734539)
2009
10
Three new BLM gene mutations associated with Bloom syndrome. (18471088)
2008
11
Lens opacities in Bloom syndrome: case report and review of the literature. (17896317)
2007
12
The Werner and Bloom syndrome proteins catalyze regression of a model replication fork. (17115688)
2006
13
Competition between the DNA unwinding and strand pairing activities of the Werner and Bloom syndrome proteins. (16412221)
2006
14
Spontaneous and induced chromosomal damage and mutations in Bloom Syndrome mice. (15450411)
2004
15
Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. (15367665)
2004
16
Relatively common mutations of the Bloom syndrome gene in the Japanese population. (15289897)
2004
17
Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. (12818200)
2003
18
The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability. (11472631)
2001
19
Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70. (11283371)
2001
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
An intracranial carcinoma in a Mexican woman with Bloom syndrome. (10818223)
2000
23
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)
2000
24
Characterization of the nuclear localization signal in the DNA helicase responsible for Bloom syndrome. (10762650)
2000
25
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. (10647186)
1999
26
T-cell receptor-gamma rearrangement and c-myb methylation in MNNG-exposed Bloom syndrome B-lymphoblastoid cells. (9563641)
1998
27
Experience treating a patient with Bloom syndrome and acute myelogenous leukemia. (9544230)
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
Nature and role of high sister chromatid exchanges in Bloom syndrome cells. Some cytogenetic and immunological aspects. (2265400)
1990
37
Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. (3163468)
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
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 47)
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_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> Tsingle nucleotide variantLikely pathogenicrs148969222GRCh37Chr 15, 91346951: 91346951
13BLMNM_000057.3(BLM): c.1088-2A> Gsingle nucleotide variantPathogenicrs367543015GRCh37Chr 15, 91303375: 91303375
14BLMNM_000057.3(BLM): c.1544dupA (p.Asn515Lysfs)duplicationPathogenicrs367543043GRCh37Chr 15, 91304147: 91304147
15BLMNM_000057.3(BLM): c.1628T> A (p.Leu543Ter)single nucleotide variantPathogenicrs367543038GRCh37Chr 15, 91304231: 91304231
16BLMNM_000057.3(BLM): c.2074+1G> Tsingle nucleotide variantPathogenicrs367543036GRCh37Chr 15, 91306388: 91306388
17BLMNM_000057.3(BLM): c.2098C> T (p.Gln700Ter)single nucleotide variantPathogenicrs367543028GRCh37Chr 15, 91308549: 91308549
18BLMNM_000057.3(BLM): c.2193+2T> Gsingle nucleotide variantPathogenicrs367543040GRCh37Chr 15, 91308646: 91308646
19BLMNM_000057.2(BLM): c.2308-953_2555+4719deldeletionPathogenicGRCh37Chr 15, 91311410: 91317535
20BLMNM_000057.3(BLM): c.2406+2T> Gsingle nucleotide variantPathogenicrs367543016GRCh37Chr 15, 91312463: 91312463
21BLMNM_000057.3(BLM): c.2506_2507delAG (p.Arg836Glyfs)deletionPathogenicrs367543024GRCh37Chr 15, 91312767: 91312768
22BLMNM_000057.3(BLM): c.2643G> A (p.Trp881Ter)single nucleotide variantPathogenicrs367543039GRCh37Chr 15, 91326139: 91326139
23BLMNM_000057.3(BLM): c.275delA (p.Asn92Metfs)deletionPathogenicrs367543027GRCh37Chr 15, 91292773: 91292773
24BLMNM_000057.3(BLM): c.2855G> T (p.Gly952Val)single nucleotide variantPathogenicrs367543034GRCh37Chr 15, 91333910: 91333910
25BLMNM_000057.3(BLM): c.2887C> T (p.His963Tyr)single nucleotide variantPathogenicrs367543023GRCh37Chr 15, 91333942: 91333942
26BLMNM_000057.3(BLM): c.2923delC (p.Gln975Lysfs)deletionPathogenicrs367543014GRCh37Chr 15, 91333978: 91333978
27BLMNM_000057.3(BLM): c.311C> A (p.Ser104Ter)single nucleotide variantPathogenicrs367543030GRCh37Chr 15, 91292809: 91292809
28BLMNM_000057.3(BLM): c.3164G> C (p.Cys1055Ser)single nucleotide variantPathogenicrs367543029GRCh37Chr 15, 91337541: 91337541
29BLMNM_000057.3(BLM): c.3191A> T (p.Asp1064Val)single nucleotide variantPathogenicrs367543032GRCh37Chr 15, 91337568: 91337568
30BLMNM_000057.3(BLM): c.3197G> A (p.Cys1066Tyr)single nucleotide variantPathogenicrs367543025GRCh37Chr 15, 91337574: 91337574
31BLMNM_000057.3(BLM): c.3223dupA (p.Arg1075Lysfs)duplicationPathogenicrs367543022GRCh37Chr 15, 91341432: 91341432
32BLMNM_000057.3(BLM): c.3255_3256insT (p.Arg1086Terfs)insertionPathogenicrs367543037GRCh37Chr 15, 91341464: 91341465
33BLMNM_000057.3(BLM): c.3278C> G (p.Ser1093Ter)single nucleotide variantPathogenicrs367543017GRCh37Chr 15, 91341487: 91341487
34BLMNM_000057.3(BLM): c.3475_3476delTT (p.Leu1159Ilefs)deletionPathogenicrs367543033GRCh37Chr 15, 91346867: 91346868
35BLMNM_000057.3(BLM): c.3558+1G> Asingle nucleotide variantPathogenicrs148969222GRCh37Chr 15, 91346951: 91346951
36BLMNM_000057.3(BLM): c.3587delG (p.Ser1196Thrfs)deletionPathogenicrs367543018GRCh37Chr 15, 91347425: 91347425
37BLMNM_000057.3(BLM): c.3681delA (p.Lys1227Asnfs)deletionPathogenicrs367543020GRCh37Chr 15, 91347519: 91347519
38BLMNM_000057.3(BLM): c.3727dupA (p.Thr1243Asnfs)duplicationPathogenicrs367543021GRCh37Chr 15, 91347565: 91347565
39BLMNM_000057.3(BLM): c.3847C> T (p.Gln1283Ter)single nucleotide variantPathogenicrs367543031GRCh37Chr 15, 91352462: 91352462
40BLMNM_000057.3(BLM): c.582delT (p.Phe194Leufs)deletionPathogenicrs367543026GRCh37Chr 15, 91293080: 91293080
41BLMNM_000057.3(BLM): c.772_773delCT (p.Leu258Glufs)deletionLikely pathogenic, Pathogenicrs367543013GRCh37Chr 15, 91293270: 91293271
42BLMNM_000057.3(BLM): c.3751+(?_0)_*(177_?)deldeletionPathogenicGRCh38Chr 15, 90804359: 90815456
43BLMNM_000057.3(BLM): c.2407dupT (p.Trp803Leufs)duplicationPathogenicrs367543012GRCh37Chr 15, 91312668: 91312668
44BLMNM_000057.3(BLM): c.2488dupA (p.Thr830Asnfs)duplicationPathogenicrs367543019GRCh37Chr 15, 91312749: 91312749
45BLMNM_000057.3(BLM): c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs)indelPathogenicrs113993962GRCh37Chr 15, 91310153: 91310158
46BLMNM_000057.3(BLM): c.557_559delCAA (p.Ser186_Pro521delinsTer)deletionPathogenicrs367543035GRCh37Chr 15, 91293055: 91293057
47BLMNM_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 23)
idSuper pathwaysScoreTop Affiliating Genes
19.9ATM, BLM, WRN
29.7BRCA1, FEN1, WRN
39.7ATM, BLM, BRCA1
49.7ATM, BRCA1, RAD51
5
Show member pathways
9.4FEN1, LIG1, POLD4
6
Show member pathways
9.4FEN1, LIG1, POLD4
7
Show member pathways
9.2ATM, BRCA1, H2AFX, RAD51
8
Show member pathways
9.2ATM, BRCA1, H2AFX, RAD51
99.2ATM, BLM, BRCA1, BRCA2, RAD51
10
Show member pathways
8.9ATM, BLM, BRCA1, BRCA2, HELLS, RAD51
118.9ATM, BLM, BRCA2, POLD4, RAD51
128.8ATM, BRCA1, BRCA2, H2AFX, RAD51
138.8ATM, BLM, BRCA1, BRCA2, LIG1, RAD51
14
Show member pathways
8.7ATM, BLM, BRCA1, BRCA2, H2AFX, RAD51
15
Show member pathways
8.4BRCA1, FEN1, LIG1, LIG3, POLD4, UNG
16
Show member pathways
8.3ATM, BLM, BRCA1, RMI1, RMI2, WRN
17
Show member pathways
8.2BLM, BRCA1, BRCA2, RAD51, RMI1, RMI2
18
Show member pathways
7.8ATM, BLM, BRCA1, H2AFX, RMI1, RMI2
19
Show member pathways
7.8ATM, BRCA1, BRCA2, FEN1, LIG1, LIG3
20
Show member pathways
7.8ATM, BLM, BRCA1, BRCA2, RAD51, RMI1
21
Show member pathways
7.1ATM, BLM, BRCA1, BRCA2, POLD4, RAD51
22
Show member pathways
6.2ATM, BLM, BRCA1, BRCA2, FEN1, H2AFX
23
Show member pathways
5.7ATM, 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:000080010.1BLM, RAD51

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

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1DNA biosynthetic processGO:007189710.7LIG1, LIG3
2cellular response to hydroxyureaGO:007271110.7BLM, RAD51
3cellular response to camptothecinGO:007275710.7BLM, RAD51
4cellular response to ionizing radiationGO:007147910.7BLM, RAD51
5lymphocyte proliferationGO:004665110.5HELLS, HPRT1
6replication fork processingGO:003129710.4BLM, RAD51, WRN
7DNA double-strand break processingGO:000072910.3ATM, BRCA1
8V(D)J recombinationGO:003315110.3ATM, LIG1, LIG3
9replication fork protectionGO:004847810.3BLM, BRCA2
10cellular response to gamma radiationGO:007148010.3ATM, RAD51, WRN
11DNA strand renaturationGO:000073310.2BLM, RECQL, RECQL4
12DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.1BRCA1, BRCA2
13DNA metabolic processGO:000625910.1LIG1, WRN
14chordate embryonic developmentGO:004300910.0BRCA1, BRCA2
15positive regulation of DNA repairGO:004573910.0BRCA1, H2AFX
16protein sumoylationGO:001692510.0BLM, BRCA1, WRN
17DNA recombinationGO:000631010.0BRCA1, BRCA2, WRN
18base-excision repairGO:00062849.9LIG3, RECQL4, UNG, WRN
19intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.9ATM, BRCA1, BRCA2
20regulation of signal transduction by p53 class mediatorGO:19017969.9ATM, BLM, RMI1, WRN
21nucleotide-excision repair, DNA gap fillingGO:00062979.8LIG1, LIG3, POLD4
22transcription-coupled nucleotide-excision repairGO:00062839.8LIG1, LIG3, POLD4
23response to ionizing radiationGO:00102129.8ATM, BRCA1, H2AFX
24telomere maintenance via recombinationGO:00007229.6BRCA2, LIG1, POLD4
25double-strand break repairGO:00063029.6ATM, LIG1, RMI2
26global genome nucleotide-excision repairGO:00709119.5LIG1, LIG3, POLD4
27DNA repairGO:00062819.1ATM, BRCA1, LIG3, UNG
28cellular response to DNA damage stimulusGO:00069749.0ATM, BLM, BRCA1, BRCA2, RAD51, WRN
29strand displacementGO:00007328.6ATM, BLM, BRCA2, RMI1, RMI2, WRN
30double-strand break repair via homologous recombinationGO:00007248.4ATM, BLM, BRCA1, BRCA2, LIG3, RAD51
31DNA synthesis involved in DNA repairGO:00007318.1ATM, BRCA1, BRCA2, POLD4, RMI1, RMI2
32double-strand break repair via synthesis-dependent strand annealingGO:00450038.1ATM, BLM, BRCA1, BRCA2, RAD51, RMI1
33DNA replicationGO:00062607.2BLM, BRCA1, LIG1, POLD4, RECQL5, RMI1

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

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent helicase activityGO:000802610.2BLM, RECQL4, WRN
2DNA helicase activityGO:000367810.2RECQL5, WRN
3four-way junction helicase activityGO:00093789.9RECQL, RECQL5, WRN
4single-stranded DNA bindingGO:00036979.8BLM, BRCA2, RAD51
5DNA bindingGO:00036778.5ATM, BLM, LIG1, LIG3, RAD51, RECQL

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