Fanconi anemia, complementation group e

Preferred Label : Fanconi anemia, complementation group e;

Symbol : FANCE;

CISMeF acronym : FACE; FANCE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FACE;

Description : Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000). 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 FANCE gene (FANCE, 613976.0001);

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 : #600901;

Details

Origin ID

600901;

UMLS CUI

C3160739;

Automatic exact mappings (from CISMeF team)
- BRCA1 DNA repair associated [ORDO Gene]
- BRCA1 wt Allele [NCIt concept]
- Childhood granulomatous periorificial dermatitis [ICD-11 More detail]
- Entire face (body structure) [SNOMED CT concept]
- FA complementation group E [HGNC gene]
- FA complementation group E [ORDO Gene]
- FANCE Gene [NCIt concept]
- FANCE wt Allele [NCIt concept]
- Face [NCIt concept]
- Face [ICD-11 Extension code]
- Face [ICHI extension code]
- Face [LOINC part]
- Face [LOINC System]
- Face [FMA entity]
- Face [ICNP localization]
- Face [LOINC System]
- Face [NCIt concept]
- Face structure (body structure) [SNOMED CT concept]
- face [UBERON concept]
- face [MeSH Descriptor]
- face [MeSH concept]
- face [Radlex concept]
- face, nos [SNOMED Notion]
- fanconi anemia complementation group E protein [MeSH concept]
- fanconi anemia complementation group E protein [MeSH Descriptor]
- fatty acid 2-chloroethyl ester synthase [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Fanconi Anemia, Complementation Group E [NCIt concept]
- Fanconi anemia complementation group E [DO Concept]
DO Cross reference
- Fanconi anemia complementation group E [DO Concept]
Genes related to phenotype
- Fance gene [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal renal morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of skin pigmentation [HPO term]
- Absent radius [HPO term]
- Absent thumb [HPO term]
- Anemia [HPO term]
- Anemic pallor [HPO term]
- Autosomal recessive inheritance [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]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Horseshoe kidney [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Intellectual disability [HPO term]
- Kidney malformation [HPO term]
- Leukemia [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Neutropenia [HPO term]
- Pancytopenia [HPO term]
- Prolonged G2 phase of cell cycle [HPO term]
- Psychomotor retardation [HPO term]
- Renal agenesis [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]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Related ORDO disease(s)
- Fanconi anemia [ORDO Disease]
See also inter- (CISMeF)
- Fanconi Anemia Group E Protein [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi Anemia, Complementation Group E [NCIt concept]
- Fanconi anemia complementation group E [DO Concept]

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