MCID: MYC001
MIFTS: 24

Myoclonic Cerebellar Dyssynergia malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Myoclonic Cerebellar Dyssynergia

About this section

Aliases & Descriptions for Myoclonic Cerebellar Dyssynergia:

Name: Myoclonic Cerebellar Dyssynergia 10 12 36 65
Dyssynergia Cerebellaris Myoclonica 10 45 46
Dyssynergia Cerebellaris Progressiva 45 46
Dentate Cerebellar Ataxia 45 46
Primary Dentatum Atrophy 45 46
Dentatorubral Atrophy 45 46
 
Ramsay Hunt Cerebellar Syndrome 45
Progressive Cerebellar Tremor 10
Progressive Myoclonus Ataxia 45
Ramsay Hunt Syndrome Type 1 45
Ramsay Hunt Syndrome I 46
Myoclonus and Ataxia 45

Characteristics:



Classifications:



External Ids:

Disease Ontology10 DOID:12707
ICD1027 G11.1
MeSH36 D002527
UMLS65 C0007761

Summaries for Myoclonic Cerebellar Dyssynergia

About this section
NINDS:46 Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia.

MalaCards based summary: Myoclonic Cerebellar Dyssynergia, also known as dyssynergia cerebellaris myoclonica, is related to gosr2-related progressive myoclonus ataxia and geniculate herpes zoster, and has symptoms including abnormality of the dentate nucleus, abnormality of the mitochondrion and pallidal degeneration. An important gene associated with Myoclonic Cerebellar Dyssynergia is CTSA (Cathepsin A). Affiliated tissues include breast, and related mouse phenotype behavior/neurological.

Related Diseases for Myoclonic Cerebellar Dyssynergia

About this section

Diseases related to Myoclonic Cerebellar Dyssynergia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gosr2-related progressive myoclonus ataxia12.2
2geniculate herpes zoster11.0
3mitochondrial encephalomyopathy10.4
4encephalomyopathy10.4
5myoclonus10.4
6ataxia10.1
7epilepsy, progressive myoclonic 1a10.0
8galactosialidosis9.9
9medulloepithelioma9.4CTSA, VIM
10capillary disease8.7CTSA, HTR2A, VIM

Graphical network of diseases related to Myoclonic Cerebellar Dyssynergia:



Diseases related to myoclonic cerebellar dyssynergia

Symptoms for Myoclonic Cerebellar Dyssynergia

About this section

HPO human phenotypes related to Myoclonic Cerebellar Dyssynergia:

(show all 8)
id Description Frequency HPO Source Accession
1 abnormality of the dentate nucleus HP:0100321
2 abnormality of the mitochondrion HP:0012103
3 pallidal degeneration HP:0007132
4 ragged-red muscle fibers HP:0003200
5 generalized seizures HP:0002197
6 intention tremor HP:0002080
7 myoclonus HP:0001336
8 ataxia HP:0001251

UMLS symptoms related to Myoclonic Cerebellar Dyssynergia:


tremor nec in icd9cm_2014, myoclonus, cerebellar ataxia

Drugs & Therapeutics for Myoclonic Cerebellar Dyssynergia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myoclonic Cerebellar Dyssynergia


Cochrane evidence based reviews: myoclonic cerebellar dyssynergia

Genetic Tests for Myoclonic Cerebellar Dyssynergia

About this section

Anatomical Context for Myoclonic Cerebellar Dyssynergia

About this section

MalaCards organs/tissues related to Myoclonic Cerebellar Dyssynergia:

33
Breast

Animal Models for Myoclonic Cerebellar Dyssynergia or affiliated genes

About this section

MGI Mouse Phenotypes related to Myoclonic Cerebellar Dyssynergia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.9CTSA, HTR2A, VIM

Publications for Myoclonic Cerebellar Dyssynergia

About this section

Articles related to Myoclonic Cerebellar Dyssynergia:

idTitleAuthorsYear
1
Clinical and electroencephalographic investigations in myoclonic cerebellar dyssynergia. (14411893)
1959

Variations for Myoclonic Cerebellar Dyssynergia

About this section

Expression for genes affiliated with Myoclonic Cerebellar Dyssynergia

About this section
Search GEO for disease gene expression data for Myoclonic Cerebellar Dyssynergia.

Pathways for genes affiliated with Myoclonic Cerebellar Dyssynergia

About this section

GO Terms for genes affiliated with Myoclonic Cerebellar Dyssynergia

About this section

Sources for Myoclonic Cerebellar Dyssynergia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet