Preferred Label : Friedreich ataxia;
Symbol : FRDA;
CISMeF acronym : FA; FARR; FRDA; FRDA1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : FRDA1; FA; Friedreich ataxia 1;
Included titles and symbols : Friedreich ataxia with retained reflexes; FARR;
Description : Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized
by progressive gait and limb ataxia with associated limb muscle weakness, absent lower
limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense
and proprioception. Onset is usually in the first or second decade, before the end
of puberty. It is one of the most common forms of autosomal recessive ataxia, occurring
in about 1 in 50,000 individuals. Other variable features include visual defects,
scoliosis, pes cavus, and cardiomyopathy (review by Delatycki et al., 2000). Pandolfo
(2008) provided an overview of Friedreich ataxia, including pathogenesis, mutation
mechanisms, and genotype/phenotype correlation. - Genetic Heterogeneity of Friedreich
Ataxia Another locus for Friedreich ataxia has been mapped to chromosome 9p (FRDA2;
601992).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation or trinucleotide repeat expansion (GAA)n in the frataxin gene (FXN,
606829.0001);
Laboratory abnormalities : Abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and
brainstem; Abnormal EKG; Abnormal echocardiogram; Low pyruvate carboxylase activity in liver and cultured fibroblasts; Decreased mitochondrial malic enzyme;
Prefixed ID : #229300;
Origin ID : 229300;
UMLS CUI : C0016719;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT
Validated automatic mappings to NTBT