Fanconi anemia, Complementation group C

Preferred Label : Fanconi anemia, Complementation group C;

Symbol : FANCC;

CISMeF acronym : FAC; FANCC; FA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fanconi pancytopenia, type 3; FAC; FA3; Facc;

Description : Fanconi anemia 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 with at least two loci and multiple alleles;

Prefixed ID : #227645;

Details

Origin ID

227645;

UMLS CUI

C3468041;

Automatic exact mappings (from CISMeF team)
- CAF Regimen [NCIt concept]
- CAF protocol [MeSH Supplementary Concept]
- FA complementation group C [HGNC gene]
- FA complementation group C [ORDO Gene]
- FA complementation group L [ORDO Gene]
- FANCC Gene [NCIt concept]
- FANCC gene [LOINC component]
- FANCC wt Allele [NCIt concept]
- Face [LOINC System]
- Fanconi Anemia Complementation Group Protein [NCIt concept]
- Fanconi Anemia, Complementation Group J [NCIt concept]
- Fellow of American College of Surgeons [NCIt concept]
- Fluorescence Activated Cell Sorting [NCIt concept]
- Fractional Area Change [NCIt concept]
- fac- [IUPAC Term]
- facies [MeSH concept]
- facies [MeSH Descriptor]
- fanconi anemia complementation group C protein [MeSH Descriptor]
- fanconi anemia complementation group C protein [MeSH concept]
- fanconi anemia complementation group L protein [MeSH Descriptor]
- fanconi anemia complementation group L protein [MeSH concept]
- fanconi anemia complementation group proteins [MeSH concept]
- fanconi anemia complementation group proteins [MeSH Descriptor]
- fanconi anemia, complementation group J [MeSH concept]
- fanconi anemia, complementation group J [MeSH Supplementary Concept]
- fanconi anemia, complementation group N [MeSH concept]
- fanconi anemia, complementation group N [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Fanconi Anemia, Complementation Group C [NCIt concept]
- Fanconi anemia complementation group C [DO Concept]
DO Cross reference
- Fanconi anemia complementation group C [DO Concept]
False automatic mappings
- FAC Regimen [NCIt concept]
Genes related to phenotype
- Fancc gene [OMIM gene]
HPO term(s)
- Absent radius [HPO term]
- Absent thumb [HPO term]
- Anemia [HPO term]
- Anemic pallor [HPO term]
- Anterior wedging of T12 [HPO term]
- Autosomal recessive inheritance [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]
- Epicanthus [HPO term]
- Flexion contracture [HPO term]
- Hearing impairment [HPO term]
- Horseshoe kidney [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypopigmented macule [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [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]
- 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]
- Triangular face [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Related ORDO disease(s)
- Fanconi anemia [ORDO Disease]
See also inter- (CISMeF)
- Fanconi Anemia Group C Protein [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi Anemia, Complementation Group C [NCIt concept]
- Fanconi anemia complementation group C [DO Concept]

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