loading...| Preferred Name |
Machado-Joseph Disease |
|
| Synonyms |
Machado-Joseph Disease Type III |
|
| Definitions |
A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D017827 |
|
| altLabel |
Machado-Joseph Disease Type III Nigrospinodentatal Degenerations Spinocerebellar Atrophy III Azorean Disease (Machado Joseph) Ataxia 3, Spinocerebellar Azorean Ataxia Type 3 Spinocerebellar Ataxia Azorean Disease, Nervous System Joseph Azorean Disease Autosomal Dominant Striatonigral Degeneration Neurologic Disease, Azorean Machado Joseph Disease Type I Type II Machado-Joseph Disease Nigrospinodentatal Degeneration Type III Machado Joseph Disease Machado-Joseph Disease Type I Machado Joseph Disease Type IV Disease, Azorean (Machado-Joseph) Joseph Disease Azorean Neurologic Disease Disease, Azorean Neurologic Type IV Machado Joseph Disease Type I Machado Joseph Disease Machado-Joseph Disease Type IV Machado Joseph Disease Type II Azorean Disease Spinocerebellar Ataxia-3 Azorean Disease (Machado-Joseph) III, Spinocerebellar Atrophy Spinocerebellar Ataxia 3s Degenerations, Nigrospinodentatal Type II Machado Joseph Disease Disease, Machado-Joseph Azorean Machado-Joseph Azorean Disease Spinocerebellar Atrophy Type 3 Disease, Joseph Azorean Type III Machado-Joseph Disease Machado Joseph Disease Type III Machado Joseph Azorean Disease Spinocerebellar Ataxia 3 Machado-Joseph Disease Type II Atrophy IIIs, Spinocerebellar Type IV Machado-Joseph Disease Spinocerebellar Ataxia Type 3 Ataxia 3s, Spinocerebellar 3s, Spinocerebellar Ataxia Striatonigral Degeneration, Autosomal Dominant Atrophy III, Spinocerebellar Disease, Joseph Machado Joseph Disease Spinocerebellar Atrophy IIIs Type I Machado-Joseph Disease Nervous System Azorean Disease Disease, Machado-Joseph Degeneration, Nigrospinodentatal Disease, Azorean |
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| 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 |
C0751668 C0751670 C0751671 C0024408 C0751669 |
|
| DC |
1 |
|
| definition |
A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96) |
|
| DX |
19940101 |
|
| HN |
94; was see SPINOCEREBELLAR DEGENERATION 1987-93 |
|
| 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 |
94; was see SPINOCEREBELLAR DEGENERATION 1987-93 |
|
| Mapped from | ||
| MDA |
19930216 |
|
| MMR |
20160628 |
|
| MN |
C10.597.350.090.500.530.530 C10.574.500.825.700.500 C10.228.854.787.875.500 C16.320.400.780.875.500 C10.228.140.252.190.530.530 C10.228.140.252.700.700.500 |
|
| notation |
D017827 |
|
| OL |
use SPINOCEREBELLAR DEGENERATION to search MACHADO-JOSEPH DISEASE 1987-93 |
|
| prefLabel |
Machado-Joseph Disease |
|
| TERMUI |
T782980 T369302 T369314 T369317 T782979 T782981 T372800 T369304 T053285 T053284 T816522 T053283 T369311 T369316 T369303 T369307 T369306 T842523 T053282 T369310 T369315 T369313 T369309 T811723 T369308 T369305 T369312 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2012) NLM (1994) NLM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |