Fanconi anemia, complementation group t

Preferred Label : Fanconi anemia, complementation group t;

Symbol : FANCT;

CISMeF acronym : FANCT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ubiquitin-conjugating enzyme E2T gene (UBE2T, 610538.0001);

Neoplasia : Increased susceptibility to malignancy;

Laboratory abnormalities : Increased chromosomal breakage in response to DNA damaging agents;

Prefixed ID : #616435;

Details

Origin ID

616435;

UMLS CUI

C4084840;

Automatic exact mappings (from CISMeF team)
- Fanconi Anemia, Complementation Group C [NCIt concept]
- Fanconi Anemia, Complementation Group J [NCIt concept]
- Fanconi anemia complementation group T [DO Concept]
- UBE2T wt Allele [NCIt concept]
- fanconi anemia, complementation group J [MeSH Supplementary Concept]
- fanconi anemia, complementation group N [MeSH concept]
- fanconi anemia, complementation group N [MeSH Supplementary Concept]
- ubiquitin conjugating enzyme E2 T [ORDO Gene]
- ubiquitin conjugating enzyme E2 T [HGNC gene]
DO Cross reference
- Fanconi anemia complementation group T [DO Concept]
Genes related to phenotype
- Ubiquitin-conjugating enzyme e2 t [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Duplication of thumb phalanx [HPO term]
- Pancytopenia [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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