MCID: MCH014
MIFTS: 15

Machado-Joseph Disease Type 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Machado-Joseph Disease Type 2

MalaCards integrated aliases for Machado-Joseph Disease Type 2:

Name: Machado-Joseph Disease Type 2 58
Spinocerebellar Ataxia, Thomas Type 58
Sca3, Thomas Type 58

Characteristics:

Orphanet epidemiological data:

58
machado-joseph disease type 2
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Machado-Joseph Disease Type 2

MalaCards based summary : Machado-Joseph Disease Type 2, is also known as spinocerebellar ataxia, thomas type. An important gene associated with Machado-Joseph Disease Type 2 is ATXN3 (Ataxin 3). Affiliated tissues include skeletal muscle, and related phenotypes are progressive external ophthalmoplegia and abnormality of extrapyramidal motor function

Related Diseases for Machado-Joseph Disease Type 2

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 2

Human phenotypes related to Machado-Joseph Disease Type 2:

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

Drugs & Therapeutics for Machado-Joseph Disease Type 2

Search Clinical Trials , NIH Clinical Center for Machado-Joseph Disease Type 2

Genetic Tests for Machado-Joseph Disease Type 2

Anatomical Context for Machado-Joseph Disease Type 2

MalaCards organs/tissues related to Machado-Joseph Disease Type 2:

40
Skeletal Muscle

Publications for Machado-Joseph Disease Type 2

Variations for Machado-Joseph Disease Type 2

Expression for Machado-Joseph Disease Type 2

Search GEO for disease gene expression data for Machado-Joseph Disease Type 2.

Pathways for Machado-Joseph Disease Type 2

GO Terms for Machado-Joseph Disease Type 2

Sources for Machado-Joseph Disease Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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