MCID: MYP067
MIFTS: 13

Myopathy, Distal, Tateyama Type

Categories: Genetic diseases

Aliases & Classifications for Myopathy, Distal, Tateyama Type

MalaCards integrated aliases for Myopathy, Distal, Tateyama Type:

Name: Myopathy, Distal, Tateyama Type 54 71 13 69
Mpdt 71

Characteristics:

OMIM:

54
Miscellaneous:
onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier
three families have been reported (as of december 2011)

Inheritance:
autosomal dominant


HPO:

32
myopathy, distal, tateyama type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614321
MeSH 42 D049310
SNOMED-CT via HPO 65 263681008 205091006

Summaries for Myopathy, Distal, Tateyama Type

UniProtKB/Swiss-Prot : 71 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 pes cavus, neck muscle weakness and calf muscle hypertrophy. An important gene associated with Myopathy, Distal, Tateyama Type is CAV3 (Caveolin 3).

Description from OMIM: 614321

Related Diseases for Myopathy, Distal, Tateyama Type

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

id Related Disease Score Top Affiliating Genes
1 cav3-related distal myopathy 10.8

Symptoms & Phenotypes for Myopathy, Distal, Tateyama Type

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
increased serum creatine kinase

Skeletal- Feet:
pes cavus

Head And Neck- Neck:
neck muscle weakness (1 patient)

Muscle Soft Tissue:
absence of caveolin-3 staining
internal nuclei
calf hypertrophy
muscle weakness, distal, particularly affecting the hands
muscle atrophy, distal, particularly affecting the hands muscle biopsy shows variation in fiber size

Cardiovascular- Heart:
palpitations, benign (1 patient)


Clinical features from OMIM:

614321

Human phenotypes related to Myopathy, Distal, Tateyama Type:

32
id Description HPO Frequency HPO Source Accession
1 pes cavus 32 HP:0001761
2 neck muscle weakness 32 occasional (7.5%) HP:0000467
3 calf muscle hypertrophy 32 HP:0008981
4 elevated serum creatine phosphokinase 32 HP:0003236

Drugs & Therapeutics for Myopathy, Distal, Tateyama Type

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

Genetic Tests for Myopathy, Distal, Tateyama Type

Anatomical Context for Myopathy, Distal, Tateyama Type

Publications for Myopathy, Distal, Tateyama Type

Variations for Myopathy, Distal, Tateyama Type

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

71
id Symbol AA change Variation ID SNP ID
1 CAV3 p.Arg27Gln VAR_011512 rs116840778
2 CAV3 p.Asn33Lys VAR_021016 rs1008642

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.137C> T (p.Ala46Val) single nucleotide variant Pathogenic/Likely pathogenic rs116840773 GRCh37 Chromosome 3, 8787234: 8787234
2 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
3 CAV3 NM_033337.2(CAV3): c.99C> G (p.Asn33Lys) single nucleotide variant Pathogenic rs1008642 GRCh37 Chromosome 3, 8775661: 8775661

Expression for Myopathy, Distal, Tateyama Type

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

Pathways for Myopathy, Distal, Tateyama Type

GO Terms for Myopathy, Distal, Tateyama Type

Sources for Myopathy, Distal, Tateyama Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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