Fanconi anemia, complementation group b

Preferred Label : Fanconi anemia, complementation group b;

Symbol : FANCB;

CISMeF acronym : FACB; FANCB; FA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fanconi pancytopenia, type 2; FA2; FACB;

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). Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the Fanconi anemia, complementation group B gene (FANCB, 300515.0001);

Prefixed ID : #300514;

Details

Origin ID

300514;

UMLS CUI

C1845292;

Currated CISMeF NLP mapping
- Fanconi Anemia, Complementation Group B [NCIt concept]
- Fanconi anemia complementation group B [DO Concept]
- fanconi anemia, complementation group B [MeSH concept]
- fanconi anemia, complementation group B [MeSH Supplementary Concept]
DO Cross reference
- Fanconi anemia complementation group B [DO Concept]
Genes related to phenotype
- Fancb gene [OMIM gene]
HPO term(s)
- Abnormal lung lobation [HPO term]
- Abnormal vertebral morphology [HPO term]
- Abnormality of chromosome stability [HPO term]
- Absent thumb [HPO term]
- Aplastic anemia [HPO term]
- Bilateral radial aplasia [HPO term]
- Cerebellar hypoplasia [HPO term]
- Childhood onset [HPO term]
- Coarctation of aorta [HPO term]
- Death in infancy [HPO term]
- Delayed CNS myelination [HPO term]
- Duodenal atresia [HPO term]
- Esophageal atresia [HPO term]
- Growth delay [HPO term]
- Hydrocephalus [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypogonadism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Micropenis [HPO term]
- Optic disc hypoplasia [HPO term]
- Overfolded helix [HPO term]
- Patent ductus arteriosus [HPO term]
- Renal agenesis [HPO term]
- Short neck [HPO term]
- Single umbilical artery [HPO term]
- Thrombocytopenia [HPO term]
- Tracheoesophageal fistula [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Related ORDO disease(s)
- Fanconi anemia [ORDO Disease]
See also inter- (CISMeF)
- FA complementation group B [ORDO Gene]
- Fanconi Anemia Group B Protein [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi Anemia, Complementation Group B [NCIt concept]
- Fanconi anemia complementation group B [DO Concept]
- fanconi anemia, complementation group B [MeSH Supplementary Concept]
- fanconi anemia, complementation group B [MeSH concept]

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