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Machado-Joseph disease type 1
1 associated gene
41 connected diseases
No signs/symptoms info
Disease Type of connection
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Melanoma of soft part
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Young adult-onset Parkinsonism
Cerebellar ataxia - hypogonadism
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Acute promyelocytic leukemia
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial isolated dilated cardiomyopathy
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Multiple endocrine neoplasia type 1
Muscular dystrophy, Selcen type
Syndromic multisystem autoimmune disease due to Itch deficiency
Young adult-onset distal hereditary motor neuropathy
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Lissencephaly due to TUBA1A mutation
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Autosomal dominant hypohidrotic ectodermal dysplasia
- SCA3, Joseph type

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
ATXN3 P54252607047
No signs/symptoms info available.