Fanconi anemia, complementation group L

Preferred Label : Fanconi anemia, complementation group L;

Symbol : FANCL;

CISMeF acronym : FANCL;

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.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FANCL gene (FANCL, 608111.0001);

Laboratory abnormalities : Increased chromosomal breakage;

Prefixed ID : #614083;

Details

Origin ID

614083;

UMLS CUI

C3469528;

Automatic exact mappings (from CISMeF team)
- E3 Ubiquitin-Protein Ligase FANCL [NCIt concept]
- FA complementation group C [ORDO Gene]
- FA complementation group L [HGNC gene]
- FA complementation group L [ORDO Gene]
- FANCL Gene [NCIt concept]
- Fanconi Anemia Complementation Group Protein [NCIt concept]
- Fanconi Anemia, Complementation Group C [NCIt concept]
- Fanconi Anemia, Complementation Group J [NCIt concept]
- fanconi anemia complementation group A protein [MeSH Descriptor]
- fanconi anemia complementation group A protein [MeSH concept]
- fanconi anemia complementation group C protein [MeSH Descriptor]
- fanconi anemia complementation group C 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 L [NCIt concept]
- Fanconi anemia complementation group L [DO Concept]
DO Cross reference
- Fanconi anemia complementation group L [DO Concept]
Genes related to phenotype
- Fancl gene [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of chromosome stability [HPO term]
- Absent thumb [HPO term]
- Anal atresia [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Cafe-au-lait spot [HPO term]
- Chromosome breakage [HPO term]
- Cleft palate [HPO term]
- Depressed nasal bridge [HPO term]
- Esophageal atresia [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Intrauterine growth retardation [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Renal hypoplasia [HPO term]
- Short neck [HPO term]
- Tracheoesophageal fistula [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
See also inter- (CISMeF)
- FA complementation group L [ORDO Gene]
- FANCL Gene [NCIt concept]
- fanconi anemia complementation group L protein [MeSH Descriptor]
- fanconi anemia complementation group L protein [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi Anemia, Complementation Group L [NCIt concept]
- Fanconi anemia complementation group L [DO Concept]

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