Friedreich ataxia

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;

Détails

Origin ID

229300;

UMLS CUI

C0016719;

Automatic exact mappings (from CISMeF team)
- Farr [LOINC method]
- Folic Acid [NCIt concept]
- Friedreich ataxia 1 [DO Concept]
- frataxin [ORDO Gene]
- friedreich ataxia with retained reflexes [MeSH concept]
- friedreich ataxia with retained reflexes [MeSH Supplementary Concept]
- friedreich's ataxia [EMDN type]
Currated CISMeF NLP mapping
- Friedreich Ataxia [NCIt concept]
- Friedreich ataxia [PASCAL descriptor]
- Friedreich ataxia [DO Concept]
- Friedreich ataxia [ICD-11 Sub-sub category]
- Friedreich ataxia [Disease (Nov.)]
- Friedreich ataxia [ACR pathology]
- Friedreich ataxia [ORDO Disease]
- Friedreich ataxia [Radlex concept]
- Friedreich ataxia (disorder) [SNOMED CT concept]
- Friedreich's ataxia [ICD-9 code]
- Friedreich's ataxia [MedDRA Preferred Term]
- friedreich ataxia [MeSH Descriptor]
- friedreich ataxia [MeSH concept]
- friedreich's ataxia [MedlinePlus Topic]
- friedreich's ataxia [SNOMED Notion]
DO Cross reference
- Friedreich ataxia 1 [DO Concept]
False automatic mappings
- FANCA wt Allele [NCIt concept]
- Findings About Events or Interventions Domain [NCIt concept]
- atrial fibrillation [MeSH Descriptor]
- atrial flutter [MeSH Descriptor]
- food additive, nos [SNOMED Notion]
- food additives [MeSH concept]
- food additives [MeSH Descriptor]
Genes related to phenotype
- Frataxin [OMIM gene]
HPO term(s)
- Abnormal EKG [HPO term]
- Abnormal echocardiogram [HPO term]
- Abnormality of visual evoked potentials [HPO term]
- Areflexia of lower limbs [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Congestive heart failure [HPO term]
- Decreased amplitude of sensory action potentials [HPO term]
- Decreased pyruvate carboxylase activity [HPO term]
- Decreased sensory nerve conduction velocity [HPO term]
- Diabetes mellitus [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Impaired proprioception [HPO term]
- Impaired vibratory sensation [HPO term]
- Juvenile onset [HPO term]
- Limb ataxia [HPO term]
- Mitochondrial malic enzyme reduced [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Pes cavus [HPO term]
- Reduced visual acuity [HPO term]
- Scoliosis [HPO term]
- Sensory neuropathy [HPO term]
- Visual field defect [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Friedreich ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Friedreich Ataxia [NCIt concept]
- Friedreich ataxia [ORDO Disease]
- Friedreich ataxia [Radlex concept]
- Friedreich ataxia [Disease (Nov.)]
- Friedreich ataxia [DO Concept]
- Friedreich ataxia (disorder) [SNOMED CT concept]
- Friedreich's ataxia [ICD-9 code]
- Friedreich's ataxia [MedDRA Preferred Term]
- friedreich ataxia [MeSH concept]
- friedreich ataxia [MeSH Descriptor]
- friedreich ataxia 1 [MeSH Supplementary Concept]
- friedreich ataxia 1 [MeSH concept]
- friedreich's ataxia [SNOMED Notion]
- friedreich's ataxia [MedlinePlus Topic]
Validated automatic mappings to BTNT
- Friedreich ataxia 1 [DO Concept]
- friedreich ataxia 1 [MeSH concept]
- friedreich ataxia 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Friedreich ataxia [Disease (Nov.)]

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