MCID: BLM001
MIFTS: 65

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 burkitt lymphoma and werner syndrome, 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 186)
idRelated DiseaseScoreTop Affiliating Genes
1burkitt lymphoma11.9
2werner syndrome11.6
3rothmund-thomson syndrome11.6
4ataxia-telangiectasia11.5
5fanconi anemia, complementation group a11.5
6bare lymphocyte syndrome, type ii, complementation group c11.5
7bare lymphocyte syndrome, type i11.4
8bamforth-lazarus syndrome11.3
9mhc class i deficiency11.3
10mhc class ii deficiency11.3
11blau syndrome10.7
12blind loop syndrome10.5
13synpolydactyly10.3FEN1, LIG1, RAD51
14congenital pulmonary veins atresia or stenosis10.3BRCA1, BRCA2
15adenocarcinoma10.3
16bronchiolitis obliterans10.3BRCA1, BRCA2
17autoimmune polyendocrine syndrome type 110.3BRCA1, BRCA2
18autoimmune disease of urogenital tract10.3BRCA1, BRCA2
19muscular dystrophy, congenital, megaconial type10.3LIG1, LIG3, RAD51
20malignant testicular leydig cell tumor10.3BRCA1, BRCA2
21pancreatic cancer 410.2BRCA1, BRCA2
22pancreatic serous cystadenocarcinoma10.2BRCA1, BRCA2
23mastitis10.2BRCA1, BRCA2
24congestive heart failure10.2
25leukemia10.2
26cervicitis10.2
27retinitis10.2
28vulvar alveolar soft part sarcoma10.2BRCA1, BRCA2
29cystadenoma10.2BRCA1, BRCA2
30partial of retinal vein occlusion10.2BRCA1, BRCA2
31mixed cerebral palsy10.2ATM, HPRT1
32spondyloepimetaphyseal dysplasia, sponastrime type10.2BRCA1, BRCA2, RAD51
33breast cancer, childhood10.1ATM, BRCA1, BRCA2
34brca2 hereditary breast and ovarian cancer syndrome10.1ATM, BRCA1, BRCA2
35craniofacioskeletal syndrome10.1HPRT1, UNG
36internal auditory canal lipoma10.1ATM, BRCA1, BRCA2
37lung cancer10.1
38hepatocellular carcinoma10.1
39breast cancer10.1
40arthritis10.1
41esophagitis10.1
42cerebritis10.1
43diverticulitis10.1
44myeloid leukemia10.1
45eosinophilia10.1
46cytomegalovirus retinitis10.1
47endotheliitis10.1
48setariasis10.1BRCA1, BRCA2
49choroid plexus papilloma10.0ATM, BRCA1, BRCA2
50endometrial mucinous adenocarcinoma10.0BRCA1, BRCA2

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, T cells, Liver, 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 211)
idTitleAuthorsYear
1
Fetal MRI Characteristics of Exencephaly: A Case Report and Literature Review. (26955498)
2016
2
Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations. (26998597)
2016
3
CBX7 and HMGA1b proteins act in opposite way on the regulation of the SPP1 gene expression. (25595895)
2015
4
The ketogenic diet for the treatment of myoclonic astatic epilepsy in a child with type 1 diabetes mellitus. (25022865)
2014
5
Serum from patients with hepatitis E virus-related acute liver failure induces human liver cell apoptosis. (24348810)
2014
6
Interleukin-32 increases human gastric cancer cell invasion associated with tumor progression and metastasis. (24602839)
2014
7
miR-20b, miR-98, miR-125b-1*, and let-7e* as new potential diagnostic biomarkers in ulcerative colitis. (23885139)
2013
8
Mathematical difficulties in nonverbal learning disability or co-morbid dyscalculia and dyslexia. (23971493)
2013
9
Hepatoprotective effect of ethanolic extract of Curcuma longa on thioacetamide induced liver cirrhosis in rats. (23496995)
2013
10
Preventive oral surgery before bisphosphonate administration to reduce osteonecrosis of the jaws. (24330028)
2013
11
Combination of Cetuximab and Rapamycin Enhances the Therapeutic Efficacy in Hepatocellular Carcinoma. (24325131)
2013
12
Mesenchymal stem cell-derived interleukin-6 and vascular endothelial growth factor promote breast cancer cell migration. (22644871)
2012
13
A novel miR-155/miR-143 cascade controls glycolysis by regulating hexokinase 2 in breast cancer cells. (22354042)
2012
14
Association of IGF-I and the IGF-I/IGFBP-3 ratio with plasma aldosterone levels in the general population. (22328165)
2012
15
Interaction between polymorphisms in NQO1(C609T) and XRCC1(G28152A) and their correlation with smoking on gastric cancer]. (21518531)
2011
16
Isolated left ventricular noncompaction cardiomyopathy diagnosed by transesophageal echocardiography. (21487457)
2011
17
Evaluation of the diagnostic performance of fibrin monomer in disseminated intravascular coagulation. (21779185)
2011
18
Transcription factor Sp1 regulates basal transcription of the human DRG2 gene. (21296692)
2011
19
Roles of E3 ubiquitin ligases in cell adhesion and migration. (20009572)
2010
20
Aspergillus hypersensitivity and allergic bronchopulmonary aspergillosis in patients with acute severe asthma in a respiratory intensive care unit in North India. (19207831)
2010
21
Influence of alcohol use, ethnicity, age, gender, BMI and smoking on the serum transferrin glycoform pattern: implications for use of carbohydrate-deficient transferrin (CDT) as alcohol biomarker. (17980706)
2008
22
Acute graft-versus-host disease in children. (17934526)
2008
23
Early upregulation in nasal epithelium and strong expression in olfactory bulb glomeruli suggest a role for Aquaporin-4 in olfaction. (17897643)
2007
24
Successful treatment of a therapy-resistant pyogenic granuloma with topical imiquimod 5% cream. (16766338)
2006
25
Just around the corner: effective therapy for Peyronie's disease? (16925773)
2006
26
Automated quantitative analysis of DCC tumor suppressor protein in ovarian cancer tissue microarray shows association with beta-catenin levels and outcome in patients with epithelial ovarian cancer. (16971669)
2006
27
Anaplastic thyroid cancer and hyperthyroidism. (16299408)
2005
28
The efavirenz-induced increase in HDL-cholesterol is influenced by the multidrug resistance gene 1 C3435T polymorphism. (15718846)
2005
29
Chronic inflammatory demyelinating polyneuropathy after Campylobacter jejuni infection mimicking vasculitic mononeuritis multiplex in a diabetic. (15104697)
2004
30
Paclitaxel chemotherapy in a pregnant patient with bilateral breast cancer. (15507181)
2004
31
APC mutations in synovial sarcoma. (11920741)
2002
32
Inhibition of telomerase activity and bcl-2 expression in berbamine-induced apoptosis in HL-60 cells. (12142991)
2002
33
Mutation of the dominant endocytosis motif in human immunodeficiency virus type 1 gp41 can complement matrix mutations without increasing Env incorporation. (11884559)
2002
34
Cutaneous Mycobacterium kansasii infection in a patient with systemic lupus erythematosus: case report and review. (10025869)
1999
35
Relationship between prognostic score and thyrotropin receptor (TSH-R) in papillary thyroid carcinoma: immunohistochemical detection of TSH-R. (9303357)
1997
36
Genetic and molecular basis for copper toxicity. (8615371)
1996
37
Seasonal affective disorder in a tropical country: a case report. (7792337)
1995
38
Microtubule stabilization and potentiation of taxol activity by the creatine analog cyclocreatine. (7670140)
1995
39
In vivo LDL receptor and HMG-CoA reductase regulation in human lymphocytes and its alterations during aging. (7541292)
1995
40
Molecular characterization of the melanocyte lineage-specific antigen gp100. (7519602)
1994
41
Complementation by wild-type p53 of interleukin-6 effects on M1 cells: induction of cell cycle exit and cooperativity with c-myc suppression. (8247009)
1993
42
Shigella-specific IgA in saliva of children with bacillary dysentery. (1547024)
1992
43
Results of surgical procedures for the correction of foot-drop and of lagophthalmus due to leprosy. (1406020)
1992
44
Glucocorticoids decrease a binding of corticotropin-releasing hormone-binding protein in human plasma. (2169481)
1990
45
Localization of the human G-CSF gene to the region of a breakpoint in the translocation typical of acute promyelocytic leukemia. (2448221)
1988
46
Radiological case of the month. Dominant X-linked chondrodysplasia punctata. (3177333)
1988
47
Osteomesopyknosis: benign axial osteosclerosis. (3191321)
1988
48
Rothmund-Thomson syndrome: a case report. (7447817)
1980
49
Argininemia. (839367)
1977
50
Familial spinal arachnoiditis. A new entity. (4816834)
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