loading...| Preferred Name |
Friedreich Ataxia |
|
| Synonyms |
Ataxia, Friedreich's |
|
| Definitions |
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) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D005621 |
|
| altLabel |
Ataxia, Friedreich's Spinocerebellar Ataxia, Friedreich Ataxia, Friedreich's Hereditary Hereditary Ataxia, Friedreich's Hereditary Spinal Ataxia, Friedreich Friedreich's Familial Ataxia Friedreich's Hereditary Spinal Ataxia Hereditary Ataxia, Friedreich Friedreich's Ataxia Spinal Scleroses, Hereditary Friedreich's Hereditary Ataxia Friedreich's Disease Sclerosis, Hereditary Spinal Familial Ataxia, Friedreich Friedreichs Familial Ataxia Spinal Sclerosis, Hereditary Friedreich Hereditary Spinal Ataxia Friedreich Familial Ataxia Ataxia, Friedreich Familial Familial Ataxia, Friedreich's Friedreich Spinocerebellar Ataxia Ataxia, Friedreich Spinocerebellar Friedreichs Hereditary Ataxia Friedreich Ataxias Hereditary Spinal Scleroses Scleroses, Hereditary Spinal Friedreich Hereditary Ataxia Hereditary Spinal Ataxia, Friedreich's Hereditary Ataxias, Friedreich's Ataxia, Friedreich Hereditary Disease, Friedreich's Hereditary Spinal Sclerosis Ataxia, Friedreich's Familial Disease, Friedreich Ataxias, Friedreich Ataxia, Friedreich Friedreich's Hereditary Ataxias Friedreich Disease Ataxias, Friedreich's Hereditary |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0016719 |
|
| DC |
1 |
|
| 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) |
|
| DX |
20000101 |
|
| HN |
2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2000; see FRIEDREICH'S ATAXIA 1966-1999; for FRIEDREICH'S DISEASE see MYOCLONUS 1997-1999 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566594 http://purl.bioontology.org/ontology/MESH/C564657 http://purl.bioontology.org/ontology/MESH/C565561 http://purl.bioontology.org/ontology/MESH/C564446 |
|
| MDA |
19990101 |
|
| MMR |
20130708 |
|
| MN |
C10.228.140.252.700.150 C16.320.400.780.200 C10.574.500.825.200 C10.228.854.787.200 C18.452.660.300 |
|
| notation |
D005621 |
|
| prefLabel |
Friedreich Ataxia |
|
| TERMUI |
T368108 T368113 T368109 T027457 T017015 T373518 T368114 T368115 T027458 T368116 T373517 T017016 T364819 T017014 T368118 |
|
| TH |
NLM (1997) NLM (2000) NLM (1966) UNK (19XX) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |