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Term:
Machado-Joseph disease (DOID:1440)
Annotations: Rat: (5) Mouse: (5) Human: (5) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (4) Pig: (5)
Parent Terms Term With Siblings Child Terms
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
Boucher-Neuhauser syndrome  
cerebellar ataxia +   
cerebellar ataxia type 41  
cerebellar ataxia type 42  
cerebellar ataxia type 43  
cerebellar ataxia type 47  
cerebellar ataxia type 48  
cerebellar ataxia type 9 
dentatorubral-pallidoluysian atrophy  
Gemignani Syndrome 
GRID2-related spinocerebellar ataxia 
hypomyelinating leukoencephalopathy 
Machado-Joseph disease  
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)
nonprogressive cerebellar ataxia with mental retardation  
spastic ataxia +   
Spinocerebellar Ataxia 32 
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits  
spinocerebellar ataxia 44  
spinocerebellar ataxia 45  
spinocerebellar ataxia 46  
Spinocerebellar Ataxia and Plaque-Like Deposits 
spinocerebellar ataxia type 1  
spinocerebellar ataxia type 10  
spinocerebellar ataxia type 11  
spinocerebellar ataxia type 12  
spinocerebellar ataxia type 13  
spinocerebellar ataxia type 14  
spinocerebellar ataxia type 15  
spinocerebellar ataxia type 17  
spinocerebellar ataxia type 18 
spinocerebellar ataxia type 19/22  
spinocerebellar ataxia type 2  
spinocerebellar ataxia type 20 
spinocerebellar ataxia type 21  
spinocerebellar ataxia type 23  
spinocerebellar ataxia type 25 
spinocerebellar ataxia type 26  
spinocerebellar ataxia type 27  
spinocerebellar ataxia type 28  
spinocerebellar ataxia type 29  
spinocerebellar ataxia type 30 
spinocerebellar ataxia type 31  
spinocerebellar ataxia type 34  
spinocerebellar ataxia type 35  
spinocerebellar ataxia type 36  
spinocerebellar ataxia type 37  
spinocerebellar ataxia type 38  
spinocerebellar ataxia type 4  
spinocerebellar ataxia type 40  
spinocerebellar ataxia type 5  
spinocerebellar ataxia type 6  
spinocerebellar ataxia type 7  
spinocerebellar ataxia type 8  
Spinocerebellar Ataxia with Dysmorphism 
Spinocerebellar Ataxia with Epilepsy  
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 
X-linked sideroblastic anemia with ataxia  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 2 
X-linked spinocerebellar ataxia 3 
X-linked spinocerebellar ataxia 4 
X-linked spinocerebellar ataxia 5 

Synonyms
Exact Synonyms: Autosomal Dominant Striatonigral Degeneration ;   Azorean Ataxia ;   Azorean Disease ;   Azorean Neurologic Disease ;   Joseph Azorean Disease ;   Joseph Disease ;   MJD ;   Machado Joseph Azorean Disease ;   Machado Joseph Disease Type I ;   Machado Joseph Disease Type II ;   Machado Joseph Disease Type III ;   Machado Joseph Disease Type IV ;   Nervous System Azorean Disease ;   Nigrospinodentatal Degeneration ;   SCA3 ;   Spinocerebellar Ataxia 3 ;   Spinocerebellar Ataxia Type 3 ;   Spinocerebellar Atrophy III ;   Spinocerebellar Atrophy Type 3 ;   nigrospinodentatal degenerations ;   spinopontine atrophy
Primary IDs: MESH:D017827
Alternate IDs: OMIM:109150
Xrefs: NCI:C84830
Definition Sources: http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease "DO", http://omim.org/entry/109150 "DO", http://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract "DO", MESH:D017827

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.