Fanconi anemia, complementation group j

Preferred Label : Fanconi anemia, complementation group j;

Symbol : FANCJ;

CISMeF acronym : FANCJ;

Type : Phenotype, molecular basis known;

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.;

Prefixed ID : #609054;

Details

Origin ID

609054;

UMLS CUI

C1836860;

Automatic exact mappings (from CISMeF team)
- BRCA1 interacting helicase 1 [ORDO Gene]
- BRCA1 interacting helicase 1 [HGNC gene]
- BRIP1 wt Allele [NCIt concept]
- FA complementation group C [ORDO Gene]
- FA complementation group L [ORDO Gene]
- Fanconi Anemia Complementation Group Protein [NCIt concept]
- Fanconi Anemia, Complementation Group C [NCIt concept]
- fanconi anemia complementation group A protein [MeSH concept]
- fanconi anemia complementation group A protein [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 Descriptor]
- fanconi anemia complementation group proteins [MeSH concept]
- fanconi anemia, complementation group N [MeSH concept]
- fanconi anemia, complementation group N [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Fanconi Anemia, Complementation Group J [NCIt concept]
- Fanconi anemia complementation group J [DO Concept]
- fanconi anemia, complementation group J [MeSH concept]
- fanconi anemia, complementation group J [MeSH Supplementary Concept]
DO Cross reference
- Fanconi anemia complementation group J [DO Concept]
Genes related to phenotype
- Brca1-interacting protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Chromosomal breakage induced by crosslinking agents [HPO term]
- Global developmental delay [HPO term]
- Intrauterine growth retardation [HPO term]
- Microphthalmia [HPO term]
- Multiple cafe-au-lait spots [HPO term]
- Postnatal growth retardation [HPO term]
- Short thumb [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Related ORDO disease(s)
- Fanconi anemia [ORDO Disease]
See also inter- (CISMeF)
- Fanconi Anemia Group J Protein [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi Anemia, Complementation Group J [NCIt concept]
- Fanconi anemia complementation group J [DO Concept]
- fanconi anemia, complementation group J [MeSH Supplementary Concept]
- fanconi anemia, complementation group J [MeSH concept]

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