Disease Browser
Parent Node: Spinocerebellar Ataxias (D020754) ..Starting node .. Machado-Joseph Disease (D017827) Child Nodes:
........Spinocerebellar ataxia, X-linked, 3 (C537315) Sister Nodes: ..Anemia, sideroblastic spinocerebellar ataxia (C536358) ..Ataxia Telangiectasia (D001260) 6 ..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850) ..Gemignani syndrome (C537678) ..Machado-Joseph Disease (D017827) 1 ..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245) ..Spastic Ataxia (C564815) ..Spastic ataxia Charlevoix-Saguenay type (C536787) ..Spinocerebellar Ataxia 10 (C566874) ..Spinocerebellar Ataxia 11 (C565772) ..Spinocerebellar Ataxia 12 (C565790) ..Spinocerebellar Ataxia 15 (C564685) ..Spinocerebellar Ataxia 17 (C564616) ..Spinocerebellar ataxia 20 (C537199) ..Spinocerebellar ataxia 25 (C537202) ..Spinocerebellar ataxia 26 (C537203) ..Spinocerebellar ataxia 30 (C575214) ..Spinocerebellar Ataxia 31 (C566146) ..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671) ..Spinocerebellar Ataxia with Dysmorphism (C564802) ..Spinocerebellar Ataxia with Epilepsy (C564395) ..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669) ..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753) ..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188) ..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436) ..Spinocerebellar Ataxia, X-Linked 1 (C563134) ..Spinocerebellar Ataxia, X-Linked 5 (C567478) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 6652
Name: Machado-Joseph Disease
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)
Alternative IDs: OMIM:109150
ParentIDs: MESH:D020754
TreeNumbers: C10.228.140.252.190.530.530 |C10.228.140.252.700.700.500 |C10.228.854.787.875.500 |C10.574.500.825.700.500 |C10.597.350.090.500.530.530 |C16.320.400.780.875.500
Synonyms: 3, Spinocerebellar Ataxia |3s, Spinocerebellar Ataxia |Ataxia 3, Spinocerebellar |Ataxia 3s, Spinocerebellar |Atrophy III, Spinocerebellar |Atrophy IIIs, Spinocerebellar |Autosomal Dominant Striatonigral Degeneration |Azorean Ataxia |Azorean Disease |Azorean Dise
Slim Mappings: Genetic disease (inborn)|Nervous system disease
Reference:
MedGen: D017827
MeSH: D017827
OMIM: 109150 ; Genes: ATXN3 ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_004993.5(ATXN3):c.916G>C (p.Gly306Arg) 4287 ATXN3 Benign;Likely benign 12895357 RCV000191937 ; RCV000116485 ; N MedGen:C0024408,OMIM:109150,ORPHA:98757,SNOMED CT:91952008; MedGen:CN169374 14 92537354 92537354 NM_004993.5:c.916G>C NP_004984.2:p.Gly306Arg NC_000014.8:g.92537354C>G - C0024408 109150 Azorean disease; CN169374 not specified NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) 4287 ATXN3 Pathogenic;risk factor 193922928 RCV000003729 ; RCV000003730 ; N MedGen:C0024408,OMIM:109150,ORPHA:98757,SNOMED CT:91952008; MedGen:C3160718,OMIM:168600,SNOMED CT:49049000 14 92537355 92537357 NM_004993.5:c.892_894CAG(8_36) NP_004984.2:p.Gln298_Gln305= OMIM Allelic Variant:607047.0001 C0024408 109150 Azorean disease; C3160718 168600 Parkinson disease, late-onset NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) 4287 ATXN3 Benign -1 RCV000191938 ; N MedGen:C0024408,OMIM:109150,ORPHA:98757,SNOMED CT:91952008 14 92537382 92537384 NM_004993.5:c.886_888CAG(12_44) NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln - C0024408 109150 Azorean disease NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln 4287 ATXN3 Pathogenic -1 RCV000191939 ; N MedGen:C0024408,OMIM:109150,ORPHA:98757,SNOMED CT:91952008 14 92537382 92537384 NM_004993.5:c.886_888CAG(60_86) NP_004984.2:p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl - C0024408 109150 Azorean disease