machado-joseph disease

Preferred Label : machado-joseph disease;

MeSH 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);

MeSH synonym : azorean disease (machado-joseph); disease, azorean (machado-joseph); azorean disease, nervous system; disease, azorean; machado joseph azorean disease; spinocerebellar ataxia type 3; spinocerebellar ataxia 3; spinocerebellar ataxia-3; azorean disease; azorean disease (machado joseph); machado-joseph azorean disease; disease, machado-joseph azorean; nervous system azorean disease; type 3 spinocerebellar ataxia; autosomal dominant striatonigral degeneration; disease, machado-joseph; joseph azorean disease; disease, joseph azorean; joseph disease; disease, joseph; striatonigral degeneration, autosomal dominant; azorean neurologic disease; disease, azorean neurologic; neurologic disease, azorean; nigrospinodentatal degeneration; degeneration, nigrospinodentatal; degenerations, nigrospinodentatal; nigrospinodentatal degenerations; spinocerebellar atrophy type 3; machado joseph disease; 3s, spinocerebellar ataxia; ataxia 3, spinocerebellar; ataxia 3s, spinocerebellar; spinocerebellar ataxia 3s; spinocerebellar atrophy III; atrophy III, spinocerebellar; atrophy IIIs, spinocerebellar; III, spinocerebellar atrophy; spinocerebellar atrophy IIIs; azorean ataxia;

CISMeF synonym : Machado-Joseph; azorean diseases (machado-joseph); diseases, azorean (machado-joseph); machado-joseph's disease; 3, spinocerebellar ataxia; IIIs, spinocerebellar atrophy;

MeSH hyponym : Machado-Joseph disease type IV; Machado-Joseph disease type II; Machado-Joseph disease type III; Machado-Joseph disease type I; Machado Joseph Disease Type IV; Type IV Machado-Joseph Disease; Type IV Machado Joseph Disease; Machado Joseph Disease Type III; Type III Machado-Joseph Disease; Type III Machado Joseph Disease; Machado Joseph Disease Type I; Type I Machado-Joseph Disease; Type I Machado Joseph Disease; Machado Joseph Disease Type II; Type II Machado-Joseph Disease; Type II Machado Joseph Disease;

Details

Origin ID

D017827;

UMLS CUI

C0024408;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Azorean disease, type IV (disorder) [SNOMED CT concept]
- movement disorders [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Azorean disease (disorder) [SNOMED CT concept]
- Joseph disease [PASCAL descriptor]
- Machado Joseph disease [Disease (Nov.)]
- Machado-Joseph disease [DO Concept]
- Machado-Joseph disease [Radlex concept]
- Machado-Joseph disease type 1 [ORDO Disease]
- Machado-Joseph disease type 2 [ORDO Disease]
- Machado-Joseph disease type 3 [ORDO Disease]
- Machado-joseph disease [OMIM Phenotype]
- Spinocerebellar Ataxia Type 3 [NCIt concept]
- Spinocerebellar ataxia type 3 [ICD-11 More detail]
- Spinocerebellar ataxia type 3 [ORDO Disease]
- azorean disease, nos [SNOMED Notion]
DO Cross reference
- Machado-Joseph disease [DO Concept]
Indexing information
- ATXN3 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
- Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly [ORDO Disease]
- Huntington disease-like syndrome [ORDO Disease]
Record concept(s)
- Machado-Joseph disease [MeSH concept]
- Machado-Joseph disease type I [MeSH concept]
- Machado-Joseph disease type II [MeSH concept]
- Machado-Joseph disease type III [MeSH concept]
- Machado-Joseph disease type IV [MeSH concept]
Related MeSH Supplementary Concept(s)
- spinocerebellar ataxia, X-linked, 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Azorean disease (disorder) [SNOMED CT concept]
- Joseph disease [PASCAL descriptor]
- Machado Joseph disease [Disease (Nov.)]
- Machado-Joseph disease [Radlex concept]
- Machado-Joseph disease [DO Concept]
- Machado-joseph disease [OMIM Phenotype]
- Spinocerebellar Ataxia Type 3 [NCIt concept]
- Spinocerebellar ataxia type 3 [ORDO Disease]
- Spinocerebellar ataxia type 3 [ICD-11 More detail]
- azorean disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Machado-Joseph disease type 1 [ICD-11 More detail]
- Machado-Joseph disease type 2 [ICD-11 More detail]
- Machado-Joseph disease type 3 [ICD-11 More detail]

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