MPDT
MCID: CV3001
MIFTS: 13

Cav3-Related Distal Myopathy (MPDT)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cav3-Related Distal Myopathy

MalaCards integrated aliases for Cav3-Related Distal Myopathy:

Name: Cav3-Related Distal Myopathy 25
Distal Myopathy, Tateyama Type 25 37 29 6
Myopathy, Distal, Tateyama Type 73
Mpdt 25

Classifications:



External Ids:

KEGG 37 H02182
UMLS 73 C3280443

Summaries for Cav3-Related Distal Myopathy

Genetics Home Reference : 25 CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.

MalaCards based summary : Cav3-Related Distal Myopathy, also known as distal myopathy, tateyama type, is related to myopathy, distal, tateyama type and rippling muscle disease 2. An important gene associated with Cav3-Related Distal Myopathy is CAV3 (Caveolin 3), and among its related pathways/superpathways are Endocytosis and Focal adhesion.

Related Diseases for Cav3-Related Distal Myopathy

Diseases in the Myopathy, Distal, Infantile-Onset family:

Myopathy, Distal, 1 Myopathy, Distal, 3
Myopathy, Distal, 4 Myopathy, Distal, 5
Cav3-Related Distal Myopathy Adult-Onset Distal Myopathy Due to Vcp Mutation
Klhl9-Related Early-Onset Distal Myopathy

Diseases related to Cav3-Related Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy, distal, tateyama type 11.6
2 rippling muscle disease 2 11.3
3 astrocytoma 10.1

Symptoms & Phenotypes for Cav3-Related Distal Myopathy

Drugs & Therapeutics for Cav3-Related Distal Myopathy

Search Clinical Trials , NIH Clinical Center for Cav3-Related Distal Myopathy

Genetic Tests for Cav3-Related Distal Myopathy

Genetic tests related to Cav3-Related Distal Myopathy:

# Genetic test Affiliating Genes
1 Distal Myopathy, Tateyama Type 29 CAV3

Anatomical Context for Cav3-Related Distal Myopathy

Publications for Cav3-Related Distal Myopathy

Variations for Cav3-Related Distal Myopathy

Expression for Cav3-Related Distal Myopathy

Search GEO for disease gene expression data for Cav3-Related Distal Myopathy.

Pathways for Cav3-Related Distal Myopathy

Pathways related to Cav3-Related Distal Myopathy according to KEGG:

37
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Focal adhesion hsa04510

GO Terms for Cav3-Related Distal Myopathy

Sources for Cav3-Related Distal Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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