MCID: CV3001
MIFTS: 14

Cav3-Related Distal Myopathy

Categories: Genetic 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 24 25
Distal Myopathy, Tateyama Type 25 56 29
Myopathy, Distal, Tateyama Type 69
Mpdt 25

Classifications:

Orphanet: 56  
Rare neurological diseases


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Orphanet 56 ORPHA488650

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 rippling muscle disease and myopathy, distal, tateyama type. An important gene associated with Cav3-Related Distal Myopathy is CAV3 (Caveolin 3).

Related Diseases for Cav3-Related Distal Myopathy

Diseases in the Myopathy, Distal, 4 family:

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

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

id Related Disease Score Top Affiliating Genes
1 rippling muscle disease 11.1
2 myopathy, distal, tateyama type 10.8

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:

id Genetic test Affiliating Genes
1 Distal Myopathy, Tateyama Type 29
2 Cav3-Related Distal Myopathy 24

Anatomical Context for Cav3-Related Distal Myopathy

Publications for Cav3-Related Distal Myopathy

Variations for Cav3-Related Distal Myopathy

ClinVar genetic disease variations for Cav3-Related Distal Myopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.137C> T (p.Ala46Val) single nucleotide variant Pathogenic/Likely pathogenic rs116840773 GRCh37 Chromosome 3, 8787234: 8787234
2 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
3 CAV3 NM_033337.2(CAV3): c.99C> G (p.Asn33Lys) single nucleotide variant Pathogenic rs1008642 GRCh37 Chromosome 3, 8775661: 8775661

Expression for Cav3-Related Distal Myopathy

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

Pathways for Cav3-Related Distal Myopathy

GO Terms for Cav3-Related Distal Myopathy

Sources for Cav3-Related Distal Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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