MPDT
MCID: MYP067
MIFTS: 28

Myopathy, Distal, Tateyama Type (MPDT)

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 56 73 13 39 71
Distal Myopathy, Tateyama Type 58 36 29 6
Mpdt 56 73

Characteristics:

OMIM:

56
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: 58  
Rare neurological diseases


External Ids:

OMIM 56 614321
KEGG 36 H02182
MeSH 43 D049310
Orphanet 58 ORPHA488650
UMLS 71 C3280443

Summaries for Myopathy, Distal, Tateyama Type

KEGG : 36 Distal myopathy, Tateyama type is a peculiar form of distal myopathy associated with reduced caveolin-3 in muscle fibers in which the muscle atrophy is restricted to the small muscles of the hands and feet. Gene analysis has been disclosed heterozygous mutations in the caveolin-3 gene.

MalaCards based summary : Myopathy, Distal, Tateyama Type, also known as distal myopathy, tateyama type, is related to cav3-related distal myopathy and glioblastoma multiforme. An important gene associated with Myopathy, Distal, Tateyama Type is CAV3 (Caveolin 3), and among its related pathways/superpathways are Endocytosis and Focal adhesion. Affiliated tissues include testes, brain and skeletal muscle, and related phenotypes are emg: myopathic abnormalities and increased variability in muscle fiber diameter

UniProtKB/Swiss-Prot : 73 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.

More information 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 11.5
2 glioblastoma multiforme 10.2
3 astrocytoma 10.2

Symptoms & Phenotypes for Myopathy, Distal, Tateyama Type

Human phenotypes related to Myopathy, Distal, Tateyama Type:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
2 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
3 progressive pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0008075
4 intrinsic hand muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008954
5 weakness of the intrinsic hand muscles 58 31 frequent (33%) Frequent (79-30%) HP:0009005
6 calf muscle pseudohypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003707
7 progressive distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009063
8 abnormal muscle fiber protein expression 58 31 frequent (33%) Frequent (79-30%) HP:0030089
9 abnormal circulating creatine kinase concentration 31 frequent (33%) HP:0040081
10 hypercholesterolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003124
11 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
12 neck muscle weakness 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000467
13 percussion-induced rapid rolling muscle contractions 58 31 occasional (7.5%) Occasional (29-5%) HP:0003760
14 calf muscle hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008962
15 myalgia 58 31 very rare (1%) Very rare (<4-1%) HP:0003326
16 palpitations 58 31 very rare (1%) Very rare (<4-1%) HP:0001962
17 areflexia 58 Excluded (0%)
18 pes cavus 31 HP:0001761
19 abnormal levels of creatine kinase in blood 58 Frequent (79-30%)
20 calf muscle hypertrophy 31 HP:0008981
21 distal sensory impairment 58 Excluded (0%)
22 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes cavus

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

Cardiovascular Heart:
palpitations, benign (1 patient)

Laboratory Abnormalities:
increased serum creatine kinase

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

Clinical features from OMIM:

614321

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 29 CAV3

Anatomical Context for Myopathy, Distal, Tateyama Type

MalaCards organs/tissues related to Myopathy, Distal, Tateyama Type:

40
Testes, Brain, Skeletal Muscle, Skin

Publications for Myopathy, Distal, Tateyama Type

Articles related to Myopathy, Distal, Tateyama Type:

(show all 40)
# Title Authors PMID Year
1
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 56 6
18930476 2009
2
Molecular and muscle pathology in a series of caveolinopathy patients. 56 6
15580566 2005
3
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 56 6
11805270 2002
4
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 6
30055862 2018
5
Caveolinopathies 6
20301559 2007
6
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 6
12939441 2003
7
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 6
11756609 2001
8
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 6
11431690 2001
9
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 6
10746614 2000
10
Phenotypic variability in rippling muscle disease. 6
10227634 1999
11
Metronomic photodynamic therapy with 5-aminolevulinic acid induces apoptosis and autophagy in human SW837 colorectal cancer cells. 61
31437760 2019
12
The effects of low irradiance long duration photochemical internalization on glioma spheroids. 61
31075319 2019
13
Tissue-adhesive wirelessly powered optoelectronic device for metronomic photodynamic cancer therapy. 61
30932063 2019
14
A suppository kit for metronomic photodynamic therapy: The elimination of rectal cancer in situ. 61
29567315 2018
15
Age Interactions on Pain Sensitization in Patients With Severe Knee Osteoarthritis and Controls. 61
28277434 2017
16
State Estimation of Discrete-Time Switched Neural Networks With Multiple Communication Channels. 61
27046885 2017
17
[Application of modified percutaneous rotating dilative tracheostomy with fiberoptic bronchoscope in critical patients of ICU: a control study for four kinds of tracheostomy]. 61
28459406 2017
18
Unsupervised gene set testing based on random matrix theory. 61
27809777 2016
19
Low-fluence rate, long duration photodynamic therapy in glioma mouse model using organic light emitting diode (OLED). 61
25936596 2015
20
Velocimetry of cathode particles in a magnetoplasmadynamic thruster discharge plasma. 61
26233389 2015
21
[Clinical application of modified percutaneous dilative tracheostomy in intensive care unit]. 61
24524401 2014
22
Surgical versus nonsurgical management of traumatic major pancreatic duct transection: institutional experience and review of the literature. 61
22750973 2013
23
Post desiccation germination of mature seeds of tea (Camellia sinensis L.) can be enhanced by pro-oxidant treatment, but partial desiccation tolerance does not ensure survival at -20°C. 61
22284708 2012
24
Evidence grade associating periodontitis with preterm birth and/or low birth weight: II: a systematic review of randomized trials evaluating the effects of periodontal treatment. 61
21736600 2011
25
A telemetric light delivery system for metronomic photodynamic therapy (mPDT) in rats. 61
20217900 2010
26
Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. 61
19704065 2009
27
Interstitial in vivo ALA-PpIX mediated metronomic photodynamic therapy (mPDT) using the CNS-1 astrocytoma with bioluminescence monitoring. 61
25047439 2007
28
A multi-marker test based on family data in genome-wide association study. 61
17894890 2007
29
Tetherless fiber-coupled optical sources for extended metronomic photodynamic therapy. 61
25047436 2007
30
Influence of dopamine deficiency in early Parkinson's disease on the slow stimulation multifocal-ERG. 61
16791744 2006
31
Fluorescence image-guided brain tumour resection with adjuvant metronomic photodynamic therapy: pre-clinical model and technology development. 61
15875077 2005
32
Metronomic photodynamic therapy as a new paradigm for photodynamic therapy: rationale and preclinical evaluation of technical feasibility for treating malignant brain tumors. 61
15339204 2004
33
A survey of propulsion options for cargo and piloted missions to Mars. 61
15220162 2004
34
Modified technique of percutaneous dilational tracheostomy in 600 cases. 61
12205561 2002
35
Topical ketorolac has no antinociceptive or anti-inflammatory effect in thermal injury. 61
7880409 1994
36
Topical glucocorticoid has no antinociceptive or anti-inflammatory effect in thermal injury. 61
8155434 1994
37
Time course of primary and secondary hyperalgesia after heat injury to the skin. 61
8123392 1993
38
The growth rate of metastatic non-seminomatous germ cell testicular tumours measured by marker production doubling time--I. Theoretical basis and practical application. 61
1694086 1990
39
The growth rate of metastatic nonseminomatous germ cell testicular tumours measured by marker production doubling time--II. Prognostic significance in patients treated by chemotherapy. 61
1694087 1990
40
[Results of an intelligence test (HAWIE) and a test of organicity (MPDT) in a 400-member group of a psychiatric population]. 61
6488074 1984

Variations for Myopathy, Distal, Tateyama Type

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAV3 , SSUH2 NM_033337.2(CAV3):c.80G>A (p.Arg27Gln)SNV Pathogenic 8283 rs116840778 3:8775642-8775642 3:8733956-8733956
2 CAV3 NM_033337.2(CAV3):c.99C>G (p.Asn33Lys)SNV Pathogenic 8289 rs1008642 3:8775661-8775661 3:8733975-8733975
3 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)SNV Conflicting interpretations of pathogenicity 8279 rs116840776 3:8787313-8787313 3:8745627-8745627
4 CAV3 NM_001234.5(CAV3):c.400G>A (p.Ala134Thr)SNV Uncertain significance 288112 rs773309037 3:8787497-8787497 3:8745811-8745811
5 CAV3 NM_033337.2(CAV3):c.166G>A (p.Gly56Ser)SNV Benign/Likely benign 8278 rs72546667 3:8787263-8787263 3:8745577-8745577
6 CAV3 NM_033337.2(CAV3):c.99C>T (p.Asn33=)SNV Benign/Likely benign 31709 rs1008642 3:8775661-8775661 3:8733975-8733975
7 CAV3 NM_001234.5(CAV3):c.171G>A (p.Val57=)SNV Benign/Likely benign 31714 rs61147808 3:8787268-8787268 3:8745582-8745582
8 CAV3 NM_033337.2(CAV3):c.27C>T (p.Leu9=)SNV Benign/Likely benign 31716 rs1974763 3:8775589-8775589 3:8733903-8733903
9 CAV3 NM_033337.2(CAV3):c.123T>C (p.Phe41=)SNV Benign/Likely benign 31717 rs13087941 3:8787220-8787220 3:8745534-8745534

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

73
# Symbol AA change Variation ID SNP ID
1 CAV3 p.Arg27Gln VAR_011512 rs116840778
2 CAV3 p.Asn33Lys VAR_021016 rs1008642

Expression for Myopathy, Distal, Tateyama Type

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

Pathways for Myopathy, Distal, Tateyama Type

Pathways related to Myopathy, Distal, Tateyama Type according to KEGG:

36
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Focal adhesion hsa04510

GO Terms for Myopathy, Distal, Tateyama Type

Sources for Myopathy, Distal, Tateyama Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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