Fanconi anemia, complementation group d1

Preferred Label : Fanconi anemia, complementation group d1;

Symbol : FANCD1;

CISMeF acronym : FAD1; FANCD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FAD1;

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 BRCA2 gene (BRCA2, 600185.0009);

Neoplasia : Increased susceptibility to solid cancers; Increased susceptibility to leukemia;

Laboratory abnormalities : Chromosomal breakage induced by diepoxybutane (DEB), and mitomycin C; Multiple chromosomal breaks;

Prefixed ID : #605724;

Details

Origin ID

605724;

UMLS CUI

C1838457;

Automatic exact mappings (from CISMeF team)
- BRCA2 DNA repair associated [ORDO Gene]
- BRCA2 protein [MeSH Descriptor]
- BRCA2 wt Allele [NCIt concept]
- Breast Cancer Type 2 Susceptibility Protein [NCIt concept]
- Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations [ORDO Disease]
- flavin adenine dinucleotide synthetase 1 [ORDO Gene]
- symbol withdrawn FANCD1 [HGNC gene]
Currated CISMeF NLP mapping
- Fanconi Anemia, Complementation Group D1 [NCIt concept]
- Fanconi anemia complementation group D1 [DO Concept]
DO Cross reference
- Fanconi anemia complementation group D1 [DO Concept]
Genes related to phenotype
- Brca2 dna repair-associated protein [OMIM gene]
HPO term(s)
- Acute myeloid leukemia [HPO term]
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Cafe-au-lait spot [HPO term]
- Chromosomal breakage induced by crosslinking agents [HPO term]
- Failure to thrive [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- T-cell acute lymphoblastic leukemias [HPO term]
ORDO concept(s)
- Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations [ORDO Disease]
Related ORDO disease(s)
- Fanconi anemia [ORDO Disease]
See also inter- (CISMeF)
- fanconi anemia, complementation group D1 [MeSH concept]
- fanconi anemia, complementation group D1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi Anemia, Complementation Group D1 [NCIt concept]
- Fanconi anemia complementation group D1 [DO Concept]
- fanconi anemia, complementation group D1 [MeSH Supplementary Concept]
- fanconi anemia, complementation group D1 [MeSH concept]

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