MCID: MCH012
MIFTS: 17

Machado-Joseph Disease Type 1

Categories: Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Machado-Joseph Disease Type 1

MalaCards integrated aliases for Machado-Joseph Disease Type 1:

Name: Machado-Joseph Disease Type 1 58
Spinocerebellar Ataxia Type 3, Joseph Type 58
Sca3, Joseph Type 58

Characteristics:

Orphanet epidemiological data:

58
machado-joseph disease type 1
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Machado-Joseph Disease Type 1

MalaCards based summary : Machado-Joseph Disease Type 1, is also known as spinocerebellar ataxia type 3, joseph type. An important gene associated with Machado-Joseph Disease Type 1 is ATXN3 (Ataxin 3). Affiliated tissues include skeletal muscle and eye, and related phenotypes are peripheral neuropathy and dystonia

Related Diseases for Machado-Joseph Disease Type 1

Diseases in the Machado-Joseph Disease family:

Machado-Joseph Disease Type 1 Machado-Joseph Disease Type 3
Machado-Joseph Disease Type 2

Symptoms & Phenotypes for Machado-Joseph Disease Type 1

Human phenotypes related to Machado-Joseph Disease Type 1:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009830
2 dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001332
3 progressive external ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000590
4 abnormality of extrapyramidal motor function 58 31 hallmark (90%) Very frequent (99-80%) HP:0002071
5 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
6 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
7 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
8 diplopia 58 31 frequent (33%) Frequent (79-30%) HP:0000651
9 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
10 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
11 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
12 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
13 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
14 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
15 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
16 substantia nigra gliosis 58 31 frequent (33%) Frequent (79-30%) HP:0011960
17 supranuclear ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000623
18 degeneration of the striatum 58 31 frequent (33%) Frequent (79-30%) HP:0040140
19 spinocerebellar tract degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0002503
20 gaze-evoked nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000640
21 dilated fourth ventricle 58 31 frequent (33%) Frequent (79-30%) HP:0002198
22 facial-lingual fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0007089
23 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
24 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
25 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
26 abnormality of temperature regulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004370
27 vocal cord paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001605
28 vestibular dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001751
29 neurogenic bladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0000011
30 distal lower limb amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008944
31 muscle spasm 31 occasional (7.5%) HP:0003394
32 abnormal pyramidal sign 58 Very frequent (99-80%)
33 skeletal muscle atrophy 58 Frequent (79-30%)
34 muscle cramps 58 Occasional (29-5%)
35 upper motor neuron dysfunction 58 Very frequent (99-80%)

Drugs & Therapeutics for Machado-Joseph Disease Type 1

Search Clinical Trials , NIH Clinical Center for Machado-Joseph Disease Type 1

Genetic Tests for Machado-Joseph Disease Type 1

Anatomical Context for Machado-Joseph Disease Type 1

MalaCards organs/tissues related to Machado-Joseph Disease Type 1:

40
Skeletal Muscle, Eye

Publications for Machado-Joseph Disease Type 1

Variations for Machado-Joseph Disease Type 1

Expression for Machado-Joseph Disease Type 1

Search GEO for disease gene expression data for Machado-Joseph Disease Type 1.

Pathways for Machado-Joseph Disease Type 1

GO Terms for Machado-Joseph Disease Type 1

Sources for Machado-Joseph Disease Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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