Bloom syndrome

Preferred Label : Bloom syndrome;

Symbol : BLM;

CISMeF acronym : BLM; BLS; MGRISCE1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bs; BLS; MGRISCE1; Microcephaly, growth restriction, and increased sister chromatid exchange 1;

Description : Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RecQ protein-like 3 gene (RECQL3, 604610.0001);

Neoplasia : Leukemia; Lymphoma; Adenocarcinoma; Squamous cell carcinoma; Hypersensitivity to chemotherapy;

Laboratory abnormalities : Decreased IgA, IgG, IgM; High sister chromatid exchange (SCE) rate; Increased chromosomal breakage; SCE normal in heterozygotes;

Prefixed ID : #210900;

Details

Origin ID

210900;

UMLS CUI

C0005859;

Automatic exact mappings (from CISMeF team)
- B Ag [LOINC component]
- BLM Gene [NCIt concept]
- BLM RecQ like helicase [ORDO Gene]
- BLM RecQ like helicase [HGNC gene]
- BLM gene [LOINC component]
- BLM wt Allele [NCIt concept]
- Bachelor of Science [NCIt concept]
- Barn [NCIt concept]
- Biospecimen Domain [NCIt concept]
- Black Swiss Mouse [NCIt concept]
- Bloom Syndrome Protein [NCIt concept]
- Boron [NCIt concept]
- Bug Search Subtest (WPPSI-IV) [NCIt concept]
- Lower case Roman letter b (qualifier value) [SNOMED CT concept]
- Lymphoma staging symptom status B (tumor staging) [SNOMED CT concept]
- Part Per Billion [NCIt concept]
- RFXANK wt Allele [NCIt concept]
- Saint Barthelemy [NCIt concept]
- Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder) [SNOMED CT concept]
- Upper case Roman letter B (qualifier value) [SNOMED CT concept]
- milk banks [MeSH Descriptor]
- regulatory factor X associated ankyrin containing protein [ORDO Gene]
Currated CISMeF NLP mapping
- Bloom Syndrome [NCIt concept]
- Bloom syndrome [PASCAL descriptor]
- Bloom syndrome [DO Concept]
- Bloom syndrome [Disease (Nov.)]
- Bloom syndrome [ICD-11 More detail]
- Bloom syndrome [ORDO Disease]
- Bloom syndrome [MedDRA Preferred Term]
- Bloom syndrome (disorder) [SNOMED CT concept]
- bloom syndrome [MeSH Descriptor]
- bloom syndrome [MeSH concept]
- bloom syndrome [SNOMED Notion]
DO Cross reference
- Bloom syndrome [DO Concept]
False automatic mappings
- Bahamas [NCIt concept]
- Bleomycin [NCIt concept]
- Bolivia, Plurinational State of [NCIt concept]
- Bowel sounds (observable entity) [SNOMED CT concept]
Genes related to phenotype
- Recq protein-like 3 [OMIM gene]
HPO term(s)
- Abnormality of chromosome stability [HPO term]
- Agenesis of maxillary lateral incisor [HPO term]
- Autosomal recessive inheritance [HPO term]
- Azoospermia [HPO term]
- Bronchiectasis [HPO term]
- Cafe-au-lait spot [HPO term]
- Chromosome breakage [HPO term]
- Chronic lung disease [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous photosensitivity [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased fertility in females [HPO term]
- Dolichocephaly [HPO term]
- Facial telangiectasia in butterfly midface distribution [HPO term]
- Growth failure [HPO term]
- Hand polydactyly [HPO term]
- High pitched voice [HPO term]
- Hypertrichosis [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Leukemia [HPO term]
- Lymphoma [HPO term]
- Malar flattening [HPO term]
- Malar rash [HPO term]
- Microcephaly [HPO term]
- Narrow face [HPO term]
- Postnatal growth retardation [HPO term]
- Prenatal growth deficiency [HPO term]
- Prominent ears [HPO term]
- Prominent nose [HPO term]
- Protruding ear [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Small for gestational age [HPO term]
- Specific learning disability [HPO term]
- Spotty hyperpigmentation [HPO term]
- Spotty hypopigmentation [HPO term]
- Squamous cell carcinoma [HPO term]
- Syndactyly [HPO term]
- Type II diabetes mellitus [HPO term]
ORDO concept(s)
- Bloom syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bloom Syndrome [NCIt concept]
- Bloom syndrome [MedDRA Preferred Term]
- Bloom syndrome [ORDO Disease]
- Bloom syndrome [DO Concept]
- Bloom syndrome [PASCAL descriptor]
- Bloom syndrome [Disease (Nov.)]
- Bloom syndrome [ICD-11 More detail]
- Bloom syndrome (disorder) [SNOMED CT concept]
- Congenital telangiectatic erythema [MedDRA LLT]
- bloom syndrome [SNOMED Notion]
- bloom syndrome [MeSH Descriptor]
- bloom syndrome [MeSH concept]

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