MCID: MYP067
MIFTS: 16

Myopathy, Distal, Tateyama Type

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Distal, Tateyama Type

MalaCards integrated aliases for Myopathy, Distal, Tateyama Type:

Name: Myopathy, Distal, Tateyama Type 53 71 13 69
Distal Myopathy, Tateyama Type 55 28
Mpdt 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
myopathy, distal, tateyama type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 614321
Orphanet 55 ORPHA488650
MeSH 41 D049310
SNOMED-CT via HPO 65 263681008 205091006
UMLS 69 C3280443

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 distal myopathy, tateyama type, is related to cav3-related distal myopathy, and has symptoms including elevated serum creatine phosphokinase, pes cavus 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:

# Related Disease Score Top Affiliating Genes
1 cav3-related distal myopathy 11.2

Symptoms & Phenotypes for Myopathy, Distal, Tateyama Type

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Neck:
neck muscle weakness (1 patient)

Skeletal Feet:
pes cavus

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
palpitations, benign (1 patient)

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


Clinical features from OMIM:

614321

Human phenotypes related to Myopathy, Distal, Tateyama Type:

31
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 31 HP:0003236
2 pes cavus 31 HP:0001761
3 calf muscle hypertrophy 31 HP:0008981
4 neck muscle weakness 31 occasional (7.5%) HP:0000467

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

Genetic tests related to Myopathy, Distal, Tateyama Type:

# Genetic test Affiliating Genes
1 Distal Myopathy, Tateyama Type 28 CAV3

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
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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