Fanconi anemia, complementation group o

Preferred Label : Fanconi anemia, complementation group o;

Symbol : FANCO;

CISMeF acronym : FANCO;

Type : Phenotype, molecular basis known;

Description : Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). 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 C homolog of the S. cerevisiae RAD51 gene (RAD51C, 602774.0001);

Laboratory abnormalities : Increased chromosomal breaks in response to cross-linking agents and ionizing radiation; Defect in DNA repair; Cellular arrest at G2 of the cell cycle;

Prefixed ID : #613390;

Details

Origin ID

613390;

UMLS CUI

C3150653;

Automatic exact mappings (from CISMeF team)
- RAD51 paralog C [ORDO Gene]
- RAD51 paralog C [HGNC gene]
- RAD51C wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Fanconi Anemia, Complementation Group O [NCIt concept]
- Fanconi anemia complementation group O [DO Concept]
DO Cross reference
- Fanconi anemia complementation group O [DO Concept]
Genes related to phenotype
- Rad51 paralog C [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Absent thumb [HPO term]
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cryptorchidism [HPO term]
- External genital hypoplasia [HPO term]
- Hydronephrosis [HPO term]
- Hypoplasia of the radius [HPO term]
- Rectal atresia [HPO term]
- Renal cyst [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Stage 5 chronic kidney disease [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 O [NCIt concept]
- Fanconi anemia complementation group O [DO Concept]

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