Fanconi anemia, complementation group d2

Preferred Label : Fanconi anemia, complementation group d2;

Symbol : FANCD2;

CISMeF acronym : FACD; FAD2; FANCD; FANCD2; FA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fanconi pancytopenia, type 4; Fanconi anemia, complementation group D; FAD2; FA4; FANCD; FACD;

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 Fanconi anemia, complementation group D2 gene (FANCD2, 613984.0001);

Neoplasia : Leukemia;

Laboratory abnormalities : Multiple chromosomal breaks; Chromosomal breakage induced by diepoxybutane (DEB), and mitomycin C; Deficient excision of UV-induced pyrimidine dimers in DNA; Prolonged G2 phase of cell cycle;

Prefixed ID : #227646;

Details

Origin ID

227646;

UMLS CUI

C3160738;

Automatic exact mappings (from CISMeF team)
- BRCA2 wt Allele [NCIt concept]
- FA complementation group D2 [HGNC gene]
- FA complementation group D2 [ORDO Gene]
- FANCD2 Gene [NCIt concept]
- FANCD2 wt Allele [NCIt concept]
- Fanconi Anemia Group D2 Protein [NCIt concept]
Currated CISMeF NLP mapping
- Fanconi Anemia, Complementation Group D2 [NCIt concept]
- Fanconi anemia complementation group D2 [DO Concept]
DO Cross reference
- Fanconi anemia complementation group D2 [DO Concept]
Genes related to phenotype
- Fancd2 gene [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of skin pigmentation [HPO term]
- Absent radius [HPO term]
- Absent thumb [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anemia [HPO term]
- Anemic pallor [HPO term]
- Annular pancreas [HPO term]
- Aplasia of the 1st metacarpal [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Bone marrow hypocellularity [HPO term]
- Bruising susceptibility [HPO term]
- Cafe-au-lait spot [HPO term]
- Chromosomal breakage induced by crosslinking agents [HPO term]
- Complete duplication of thumb phalanx [HPO term]
- Cryptorchidism [HPO term]
- Deafness [HPO term]
- Deficient excision of UV-induced pyrimidine dimers in DNA [HPO term]
- Duplicated collecting system [HPO term]
- Ectopic kidney [HPO term]
- Esophageal atresia [HPO term]
- Hearing impairment [HPO term]
- Horseshoe kidney [HPO term]
- Hydrocephalus [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability [HPO term]
- Kidney malformation [HPO term]
- Leukemia [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Neutropenia [HPO term]
- Pancytopenia [HPO term]
- Partial duplication of thumb phalanx [HPO term]
- Patent ductus arteriosus [HPO term]
- Pelvic kidney [HPO term]
- Preaxial hand polydactyly [HPO term]
- Prolonged G2 phase of cell cycle [HPO term]
- Renal agenesis [HPO term]
- Renal duplication [HPO term]
- Reticulocytopenia [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Small for gestational age [HPO term]
- Strabismus [HPO term]
- Thrombocytopenia [HPO term]
- Tracheoesophageal fistula [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Related ORDO disease(s)
- Fanconi anemia [ORDO Disease]
See also inter- (CISMeF)
- FA complementation group D2 [ORDO Gene]
- fanconi anemia complementation group D2 protein [MeSH Descriptor]
- fanconi anemia complementation group D2 protein [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi Anemia, Complementation Group D2 [NCIt concept]
- Fanconi anemia complementation group D2 [DO Concept]

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