MCID: CV3001
MIFTS: 7

Cav3-Related Distal Myopathy

Aliases & Classifications for Cav3-Related Distal Myopathy

MalaCards integrated aliases for Cav3-Related Distal Myopathy:

Name: Cav3-Related Distal Myopathy 24
Myopathy, Distal, Tateyama Type 69
Distal Myopathy, Tateyama Type 24
Mpdt 24

External Ids:

UMLS 69 C3280443

Summaries for Cav3-Related Distal Myopathy

Genetics Home Reference : 24 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 myopathy, distal, tateyama type, is related to rippling muscle disease 2 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 related to Cav3-Related Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rippling muscle disease 2 11.2
2 myopathy, distal, tateyama type 11.1

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

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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....