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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Machado-Joseph disease
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Accession:DOID:1440 term browser browse the term
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)
Synonyms:exact_synonym: 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_id: MESH:D017827
 alt_id: OMIM:109150
 xref: NCI:C84830
For additional species annotation, visit the Alliance of Genome Resources.


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Machado-Joseph disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn3 ataxin 3 susceptibility
treatment
ISO ClinVar Annotator: match by term: Azorean disease
protein:increased degradation, altered localization:neuron, nucleus
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:31378764, PMID:7874163, PMID:20308049, PMID:9804376, PMID:18385100, PMID:18841197 RGD:1599419, RGD:11557997, RGD:11557998, RGD:5131159, RGD:11558010 NCBI chr 6:125,817,420...125,853,461
Ensembl chr 6:125,819,640...125,853,461
JBrowse link
G Becn1 beclin 1 ISO protein:decreased expression:brain
protein:decreased expression:fibroblast
RGD PMID:21478185, PMID:21478185 RGD:6483072, RGD:6483072 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:21743141 RGD:5508762 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Slc18a2 solute carrier family 18 member A2 IEP protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 1:280,397,831...280,457,968
Ensembl chr 1:280,423,079...280,457,148
JBrowse link
G Th tyrosine hydroxylase IEP protein:decreased expression:substantia nigra (rat) RGD PMID:18385100 RGD:5131159 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        neurodegenerative disease 3191
          primary cerebellar degeneration 306
            Spinocerebellar Ataxias 284
              Machado-Joseph disease 5
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                Ataxia 395
                  Spinocerebellar Ataxias 284
                    cerebellar ataxia 248
                      autosomal dominant cerebellar ataxia 83
                        Machado-Joseph disease 5
paths to the root

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