MCID: MYP067
MIFTS: 12

Myopathy, Distal, Tateyama Type malady

Category: Genetic diseases (common)

Aliases & Classifications for Myopathy, Distal, Tateyama Type

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Aliases & Descriptions for Myopathy, Distal, Tateyama Type:

Name: Myopathy, Distal, Tateyama Type 52 70 12 68
 
Mpdt 70

Characteristics:

HPO:

64
myopathy, distal, tateyama type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 614321
MeSH39 D049310

Summaries for Myopathy, Distal, Tateyama Type

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UniProtKB/Swiss-Prot:70 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:52 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 myopathy11.1

Symptoms & Phenotypes for Myopathy, Distal, Tateyama Type

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Symptoms by clinical synopsis from OMIM:

614321

Clinical features from OMIM:

614321

Human phenotypes related to Myopathy, Distal, Tateyama Type:

 64
id Description HPO Frequency HPO Source Accession
1 neck muscle weakness64 rare (5%) HP:0000467
2 pes cavus64 HP:0001761
3 elevated serum creatine phosphokinase64 HP:0003236
4 calf muscle hypertrophy64 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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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:

70
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
1CAV3NM_033337.2(CAV3): c.137C> T (p.Ala46Val)SNVLikely pathogenic, Pathogenicrs116840773GRCh37Chr 3, 8787234: 8787234
2CAV3NM_033337.2(CAV3): c.80G> A (p.Arg27Gln)SNVPathogenicrs116840778GRCh37Chr 3, 8775642: 8775642
3CAV3NM_033337.2(CAV3): c.99C> G (p.Asn33Lys)SNVPathogenicrs1008642GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet