MCID: MYP067
MIFTS: 10

Myopathy, Distal, Tateyama Type malady

Genetic diseases (common) category

Summaries for Myopathy, Distal, Tateyama Type

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MalaCards based summary: Myopathy, Distal, Tateyama Type 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:45 614321

Aliases & Classifications for Myopathy, Distal, Tateyama Type

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Myopathy, Distal, Tateyama Type, Aliases & Descriptions:

Name: Myopathy, Distal, Tateyama Type 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 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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Drug clinical trials:

Search ClinicalTrials for Myopathy, Distal, Tateyama Type

Search 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:

62
id Symbol AA change Variation ID SNP ID
1CAV3p.Arg27GlnVAR_011512
2CAV3p.Asn33LysVAR_021016rs1008642

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

6
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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Compounds 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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Products for genes affiliated with Myopathy, Distal, Tateyama Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myopathy, Distal, Tateyama Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet