MCID: MYP067
MIFTS: 12

Myopathy, Distal, Tateyama Type malady

Category: Genetic diseases (common)

Aliases & Classifications for Myopathy, Distal, Tateyama Type

About this section

Aliases & Descriptions for Myopathy, Distal, Tateyama Type:

Name: Myopathy, Distal, Tateyama Type 50 68 12
 
Mpdt 68

Characteristics:

HPO:

62
myopathy, distal, tateyama type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 614321
MeSH37 D049310

Summaries for Myopathy, Distal, Tateyama Type

About this section
UniProtKB/Swiss-Prot:68 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, pes cavus and elevated serum creatine phosphokinase. An important gene associated with Myopathy, Distal, Tateyama Type is CAV3 (Caveolin 3).

Description from OMIM:50 614321

Related Diseases for Myopathy, Distal, Tateyama Type

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1cav3-related distal myopathy11.2

Symptoms for Myopathy, Distal, Tateyama Type

About this section

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 pes cavus HP:0001761
3 elevated serum creatine phosphokinase HP:0003236
4 calf muscle hypertrophy HP:0008981

Drugs & Therapeutics for Myopathy, Distal, Tateyama Type

About this section

Interventional clinical trials:

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

Genetic Tests for Myopathy, Distal, Tateyama Type

About this section

Anatomical Context for Myopathy, Distal, Tateyama Type

About this section

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

About this section

Publications for Myopathy, Distal, Tateyama Type

About this section

Variations for Myopathy, Distal, Tateyama Type

About this section

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

68
id Symbol AA change Variation ID SNP ID
1CAV3p.Arg27GlnVAR_011512rs116840778
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

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

Pathways for genes affiliated with Myopathy, Distal, Tateyama Type

About this section

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

About this section

Sources for Myopathy, Distal, Tateyama Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet