Fanconi anemia, complementation group q

Preferred Label : Fanconi anemia, complementation group q;

Symbol : FANCQ;

CISMeF acronym : FANCQ;

Type : Phenotype, molecular basis known;

Description : Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by Bogliolo et al., 2013). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair cross-complementing group 4 gene (ERCC4, 133520.0004);

Laboratory abnormalities : Patient cells show increased chromosome breakage;

Prefixed ID : #615272;

Details

Origin ID

615272;

UMLS CUI

C3808988;

Automatic exact mappings (from CISMeF team)
- ERCC excision repair 4, endonuclease catalytic subunit [ORDO Gene]
- ERCC excision repair 4, endonuclease catalytic subunit [HGNC gene]
- ERCC4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Fanconi anemia complementation group Q [DO Concept]
DO Cross reference
- Fanconi anemia complementation group Q [DO Concept]
Genes related to phenotype
- Ercc excision repair 4, endonuclease catalytic subunit [OMIM gene]
HPO term(s)
- Absent thumb [HPO term]
- Anteriorly placed anus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biliary atresia [HPO term]
- Bone marrow hypocellularity [HPO term]
- Chromosome breakage [HPO term]
- Congenital onset [HPO term]
- Esophageal atresia [HPO term]
- Growth delay [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Primum atrial septal defect [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi anemia complementation group Q [DO Concept]

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