MCID: MYP067
MIFTS: 15

Myopathy, Distal, Tateyama Type malady

Genetic diseases (common) category

Aliases & Classifications for Myopathy, Distal, Tateyama Type

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Aliases & Descriptions for Myopathy, Distal, Tateyama Type:

Name: Myopathy, Distal, Tateyama Type 49 11 67
 
Mpdt 67


Classifications:



External Ids:

OMIM49 614321
MeSH36 D049310

Summaries for Myopathy, Distal, Tateyama Type

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UniProtKB/Swiss-Prot:67 Myopathy, distal, Tateyama type: A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet.

MalaCards based summary: Myopathy, Distal, Tateyama Type, also known as mpdt, is related to cav3-related distal myopathy, and has symptoms including neck muscle weakness, autosomal dominant inheritance and pes cavus. An important gene associated with Myopathy, Distal, Tateyama Type is CAV3 (Caveolin 3).

Description from OMIM:49 614321

Related Diseases for Myopathy, Distal, Tateyama Type

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Diseases related to Myopathy, Distal, Tateyama Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cav3-related distal myopathy10.4

Symptoms for Myopathy, Distal, Tateyama Type

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Symptoms by clinical synopsis from OMIM:

614321

Clinical features from OMIM:

614321

HPO human phenotypes related to Myopathy, Distal, Tateyama Type:

id Description Frequency HPO Source Accession
1 neck muscle weakness rare (5%) HP:0000467
2 autosomal dominant inheritance HP:0000006
3 pes cavus HP:0001761
4 elevated serum creatine phosphokinase HP:0003236
5 calf muscle hypertrophy HP:0008981

Drugs & Therapeutics for Myopathy, Distal, Tateyama Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myopathy, Distal, Tateyama Type

Genetic Tests for Myopathy, Distal, Tateyama Type

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Anatomical Context for Myopathy, Distal, Tateyama Type

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Animal Models for Myopathy, Distal, Tateyama Type or affiliated genes

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Publications for Myopathy, Distal, Tateyama Type

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Variations for Myopathy, Distal, Tateyama Type

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Distal, Tateyama Type:

67
id Symbol AA change Variation ID SNP ID
1CAV3p.Arg27GlnVAR_011512
2CAV3p.Asn33LysVAR_021016rs1008642

Clinvar genetic disease variations for Myopathy, Distal, Tateyama Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_033337.2(CAV3): c.80G> A (p.Arg27Gln)single nucleotide variantPathogenicrs116840778GRCh37Chr 3, 8775642: 8775642
2NM_033337.2(CAV3): c.99C> G (p.Asn33Lys)single nucleotide variantPathogenicrs1008642GRCh37Chr 3, 8775661: 8775661

Expression for genes affiliated with Myopathy, Distal, Tateyama Type

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Search GEO for disease gene expression data for Myopathy, Distal, Tateyama Type.

Pathways for genes affiliated with Myopathy, Distal, Tateyama Type

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GO Terms for genes affiliated with Myopathy, Distal, Tateyama Type

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Sources for Myopathy, Distal, Tateyama Type

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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