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ONTOLOGY REPORT - ANNOTATIONS


Term:Friedreich ataxia
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Accession:DOID:12705 term browser browse the term
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)
Synonyms:exact_synonym: Friedreich Familial Ataxia;   Friedreich Hereditary Ataxia;   Friedreich Hereditary Spinal Ataxia;   Friedreich ataxias;   Friedreich disease;   Friedreich spinocerebellar ataxia;   Friedreich's Ataxia;   Friedreich's Disease;   Friedreich's Familial Ataxia;   Friedreich's Hereditary Ataxia;   Friedreich's Hereditary Spinal Ataxia;   Friedreich's hereditary ataxias;   Friedreich's tabes;   Friedreichs Familial Ataxia;   Friedreichs Hereditary Ataxia;   hereditary spinal scleroses;   hereditary spinal sclerosis
 primary_id: MESH:D005621
 xref: GARD:6468;   ICD9CM:334.0;   NCI:C84718
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Friedreich ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:1598961
RGD:1582636
RGD:8554872
RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490251
Friedreich ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        mitochondrial metabolism disease 308
          Friedreich ataxia 2
            Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 0
            Friedreich Ataxia Congenital Glaucoma 0
            Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 0
            Friedreich ataxia 1 + 1
            Friedreich ataxia 2 0
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            movement disease 1008
              Dyskinesias 718
                Ataxia 307
                  hereditary ataxia 186
                    cerebellar ataxia 169
                      autosomal recessive cerebellar ataxia 58
                        Friedreich ataxia 2
                          Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 0
                          Friedreich Ataxia Congenital Glaucoma 0
                          Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 0
                          Friedreich ataxia 1 + 1
                          Friedreich ataxia 2 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.