MCID: CV3001
MIFTS: 11

Cav3-Related Distal Myopathy

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 26
Myopathy, Distal, Tateyama Type 74
Distal Myopathy, Tateyama Type 26
Mpdt 26

Classifications:



External Ids:

UMLS 74 C3280443

Summaries for Cav3-Related Distal Myopathy

Genetics Home Reference : 26 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 myopathy, distal, tateyama type and rippling muscle disease 2.

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 11.4
2 rippling muscle disease 2 11.4
3 astrocytoma 10.2

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

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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