MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Mitochondrial Diseases (D028361)
Parent Node:
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Spinocerebellar Degenerations (D013132)
..Starting node
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Friedreich Ataxia (D005621)

       Child Nodes:
........expandCharcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined (C564446)
........expandFriedreich Ataxia 1 (C565561)  LSDB  L: 00491;
........expandFriedreich Ataxia 2 (C566594)
........expandFriedreich ataxia congenital glaucoma (C538061)
........expandFriedreich Ataxia with Retained Reflexes (C564657)
........expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)



 Sister Nodes: 
..expandCorneal cerebellar syndrome (C535472)
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandHereditary spinal ataxia (C531684)
..expandInfantile onset spinocerebellar ataxia (C535523) Child1  LSDB C:1
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyoclonic Cerebellar Dyssynergia (D002527) Child1
..expandOlivopontocerebellar Atrophies (D009849) Child15  LSDB C:1
..expandPosterior column ataxia (C536342)
..expandSensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..expandSpinocerebellar ataxia 13 (C537195)
..expandSpinocerebellar ataxia 14 (C537196)
..expandSpinocerebellar ataxia 19 (C537198)
..expandSpinocerebellar ataxia 21 (C537200)
..expandSpinocerebellar ataxia 22 (C542540)
..expandSpinocerebellar ataxia 23 (C537201)
..expandSpinocerebellar ataxia 27 (C537204)
..expandSpinocerebellar ataxia 28 (C537205)  LSDB  L: 00498;
..expandSpinocerebellar Ataxia 29 (C537206)
..expandSpinocerebellar ataxia 8 (C537307)
..expandSpinocerebellar ataxia, autosomal recessive 1 (C537308)
..expandSpinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..expandSpinocerebellar ataxia, autosomal recessive 3 (C537309)
..expandSpinocerebellar ataxia, autosomal recessive 4 (C537310)
..expandSpinocerebellar ataxia, autosomal recessive 5 (C537311)
..expandSpinocerebellar ataxia, autosomal recessive 6 (C537312)
..expandSpinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..expandSpinocerebellar ataxia, X-linked, 2 (C537314)
..expandSpinocerebellar ataxia, X-linked, 4 (C537316)
..expandSpinocerebellar Ataxias (D020754) Child34  LSDB C:2
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4419
Name:Friedreich Ataxia
Definition:An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
Alternative IDs:
ParentIDs:MESH:D013132|MESH:D028361
TreeNumbers:C10.228.140.252.700.150 |C10.228.854.787.200 |C10.574.500.825.200 |C16.320.400.780.200 |C18.452.660.300
Synonyms:Ataxia, Friedreich |Ataxia, Friedreich Familial |Ataxia, Friedreich Hereditary |Ataxia, Friedreich's |Ataxia, Friedreich's Familial |Ataxia, Friedreich's Hereditary |Ataxia, Friedreich Spinocerebellar |Ataxias, Friedreich |Ataxias, Friedreich's Hereditary |Diseas
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D005621
MeSH: D005621
OMIM:
MSeqDR LSDB:
MSeqDR has 1 matches in descendants: 00491;  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal