Fanconi anemia, complementation group a

Preferred Label : Fanconi anemia, complementation group a;

Symbol : FANCA;

CISMeF acronym : FA; FANCA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fanconi anemia; FA;

Included titles and symbols : Fanconi anemia, estren-dameshek variant; Estren-dameshek variant of fanconi anemia; Estren-dameshek variant of fanconi pancytopenia;

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). Soulier et al. (2005) noted that the FANCA, -C, -E, -F, -G, and -L proteins are part of a nuclear multiprotein core complex which triggers activating monoubiquitination of the FANCD2 protein during S phase of the growth cycle and after exposure to DNA crosslinking agents. The FA/BRCA pathway is involved in the repair of DNA damage. Some cases of Fanconi anemia have presented with a VACTERL (192350) or;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Fanconi anemia, complementation group A gene (FANCA, 607139.0001);

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 : #227650;

Details

Origin ID

227650;

UMLS CUI

C3469521;

Automatic exact mappings (from CISMeF team)
- BRCA1 DNA repair associated [HGNC gene]
- Estren-Dameshek variant of fanconi anemia [MeSH concept]
- Estren-Dameshek variant of fanconi anemia [MeSH Supplementary Concept]
- Estren-Dameshek variant of fanconi pancytopenia [MeSH concept]
- Estren-Dameshek variant of fanconi pancytopenia [MeSH Supplementary Concept]
- FA complementation group A [HGNC gene]
- FA complementation group A [ORDO Gene]
- FANCA Gene [NCIt concept]
- FANCA wt Allele [NCIt concept]
- Fanconi Anemia [NCIt concept]
- Fanconi Anemia Complementation Group Protein [NCIt concept]
- Fanconi anemia [PASCAL descriptor]
- Fanconi anemia [DO Concept]
- Fanconi anemia [ORDO Disease]
- Fanconi's anaemia [MedDRA LLT]
- Fanconi's anemia [MedDRA LLT]
- Fanconi's anemia (disorder) [SNOMED CT concept]
- Findings About Events or Interventions Domain [NCIt concept]
- Folic Acid [NCIt concept]
- Friedreich ataxia [ORDO Disease]
- SLX4 structure-specific endonuclease subunit [HGNC gene]
- aplastic anemia [MedlinePlus Topic]
- atrial fibrillation [MeSH Descriptor]
- atrial flutter [MeSH Descriptor]
- fanconi anemia [MeSH Descriptor]
- fanconi anemia [MeSH concept]
- fanconi anemia complementation group L protein [MeSH Descriptor]
- fanconi anemia complementation group L protein [MeSH concept]
- fanconi anemia complementation group proteins [MeSH Descriptor]
- fanconi anemia, complementation group J [MeSH concept]
- fanconi anemia, complementation group J [MeSH Supplementary Concept]
- food additive, nos [SNOMED Notion]
- food additives [MeSH concept]
- food additives [MeSH Descriptor]
- frataxin [ORDO Gene]
- partner and localizer of BRCA2 [HGNC gene]
Currated CISMeF NLP mapping
- Fanconi Anemia, Complementation Group A [NCIt concept]
- Fanconi anemia complementation group A [DO Concept]
DO Cross reference
- Fanconi anemia complementation group A [DO Concept]
Genes related to phenotype
- Fanca 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]
- Hearing impairment [HPO term]
- Horseshoe kidney [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Intellectual disability [HPO term]
- Kidney malformation [HPO term]
- Leukemia [HPO term]
- Male infertility [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]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Related ORDO disease(s)
- Fanconi anemia [ORDO Disease]
See also inter- (CISMeF)
- FA complementation group A [ORDO Gene]
- Fanconi Anemia Group A Protein [NCIt concept]
- fanconi anemia complementation group A protein [MeSH Descriptor]
- fanconi anemia complementation group A protein [MeSH concept]
- fanconi anemia complementation group proteins [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi Anemia, Complementation Group A [NCIt concept]
- Fanconi anemia complementation group A [DO Concept]
Validated automatic mappings to NTBT
- Fanconi anemia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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