Fanconi anemia, complementation group u

Preferred Label : Fanconi anemia, complementation group u;

Symbol : FANCU;

CISMeF acronym : FANCU;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the X-ray repair, complementing defective, in Chinese hamster, 2 gene (XRCC2, 600375.0001);

Laboratory abnormalities : Cellular hypersensitivity to ionizing radiation; Increased chromosomal breakage and instability; Cellular hypersensitivity to DNA interstrand crosslinking agents; Defective DNA repair;

Prefixed ID : #617247;

Details

Origin ID

617247;

UMLS CUI

C4310651;

Automatic exact mappings (from CISMeF team)
- Fanconi anemia complementation group U [DO Concept]
- X-ray repair cross complementing 2 [ORDO Gene]
- X-ray repair cross complementing 2 [HGNC gene]
- XRCC2 wt Allele [NCIt concept]
DO Cross reference
- Fanconi anemia complementation group U [DO Concept]
Genes related to phenotype
- X-ray repair cross complementing 2 [OMIM gene]
HPO term(s)
- Absent radius [HPO term]
- Absent scaphoid [HPO term]
- Absent thumb [HPO term]
- Aplasia of the 1st metacarpal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chromosome breakage [HPO term]
- Congenital onset [HPO term]
- Ectopic kidney [HPO term]
- Growth delay [HPO term]
- Hypoplasia of the radius [HPO term]
- Microcephaly [HPO term]
- Patent ductus arteriosus [HPO term]
- Unilateral facial palsy [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients