MPDT
MCID: MYP067
MIFTS: 30

Myopathy, Distal, Tateyama Type (MPDT)

Categories: Genetic diseases, Muscle 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 57 72 13 39 70
Distal Myopathy, Tateyama Type 58 36 29 6
Mpdt 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 614321
KEGG 36 H02182
MeSH 44 D049310
Orphanet 58 ORPHA488650
UMLS 70 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 glioma susceptibility 1. 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 skeletal muscle and skin, and related phenotypes are emg: myopathic abnormalities and increased variability in muscle fiber diameter

UniProtKB/Swiss-Prot : 72 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

Graphical network of the top 20 diseases related to Myopathy, Distal, Tateyama Type:



Diseases related to Myopathy, Distal, Tateyama Type

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 intrinsic hand muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008954
4 calf muscle pseudohypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003707
5 weakness of the intrinsic hand muscles 58 31 frequent (33%) Frequent (79-30%) HP:0009005
6 progressive pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0008075
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 calf muscle hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008962
14 percussion-induced rapid rolling muscle contractions 58 31 occasional (7.5%) Occasional (29-5%) HP:0003760
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 elevated serum creatine kinase 31 HP:0003236
18 abnormal levels of creatine kinase in blood 58 Frequent (79-30%)
19 areflexia 58 Excluded (0%)
20 pes cavus 31 HP:0001761
21 calf muscle hypertrophy 31 HP:0008981
22 distal sensory impairment 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
Skeletal Muscle, Skin

Publications for Myopathy, Distal, Tateyama Type

Articles related to Myopathy, Distal, Tateyama Type:

(show all 43)
# Title Authors PMID Year
1
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 57 6
18930476 2009
2
Molecular and muscle pathology in a series of caveolinopathy patients. 6 57
15580566 2005
3
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 57 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
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 6
12939441 2003
6
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 6
11756609 2001
7
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 6
11431690 2001
8
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 6
10746614 2000
9
Phenotypic variability in rippling muscle disease. 6
10227634 1999
10
Metronomic photodynamic therapy using an implantable LED device and orally administered 5-aminolevulinic acid. 61
33328544 2020
11
Deep proteome profiling of SW837 cells treated by photodynamic therapy (PDT) reveals the underlying mechanisms of metronomic and acute PDTs. 61
32437970 2020
12
Automatic, Qualitative Scoring of the Interlocking Pentagon Drawing Test (PDT) based on U-Net and Mobile Sensor Data. 61
32120879 2020
13
Metronomic photodynamic therapy with 5-aminolevulinic acid induces apoptosis and autophagy in human SW837 colorectal cancer cells. 61
31437760 2019
14
The effects of low irradiance long duration photochemical internalization on glioma spheroids. 61
31075319 2019
15
Painless versus conventional photodynamic therapy for treatment of actinic keratosis: Comparison of cell death and immune response in a murine model. 61
33790491 2019
16
Tissue-adhesive wirelessly powered optoelectronic device for metronomic photodynamic cancer therapy. 61
30932063 2019
17
A suppository kit for metronomic photodynamic therapy: The elimination of rectal cancer in situ. 61
29567315 2018
18
Age Interactions on Pain Sensitization in Patients With Severe Knee Osteoarthritis and Controls. 61
28277434 2017
19
State Estimation of Discrete-Time Switched Neural Networks With Multiple Communication Channels. 61
27046885 2017
20
[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
21
Unsupervised gene set testing based on random matrix theory. 61
27809777 2016
22
Low-fluence rate, long duration photodynamic therapy in glioma mouse model using organic light emitting diode (OLED). 61
25936596 2015
23
Velocimetry of cathode particles in a magnetoplasmadynamic thruster discharge plasma. 61
26233389 2015
24
[Clinical application of modified percutaneous dilative tracheostomy in intensive care unit]. 61
24524401 2014
25
Surgical versus nonsurgical management of traumatic major pancreatic duct transection: institutional experience and review of the literature. 61
22750973 2013
26
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
27
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
28
A telemetric light delivery system for metronomic photodynamic therapy (mPDT) in rats. 61
20217900 2010
29
Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. 61
19704065 2009
30
A multi-marker test based on family data in genome-wide association study. 61
17894890 2007
31
Tetherless fiber-coupled optical sources for extended metronomic photodynamic therapy. 61
25047436 2007
32
Interstitial in vivo ALA-PpIX mediated metronomic photodynamic therapy (mPDT) using the CNS-1 astrocytoma with bioluminescence monitoring. 61
25047439 2007
33
Influence of dopamine deficiency in early Parkinson's disease on the slow stimulation multifocal-ERG. 61
16791744 2006
34
Fluorescence image-guided brain tumour resection with adjuvant metronomic photodynamic therapy: pre-clinical model and technology development. 61
15875077 2005
35
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
36
A survey of propulsion options for cargo and piloted missions to Mars. 61
15220162 2004
37
Modified technique of percutaneous dilational tracheostomy in 600 cases. 61
12205561 2002
38
Topical ketorolac has no antinociceptive or anti-inflammatory effect in thermal injury. 61
7880409 1994
39
Topical glucocorticoid has no antinociceptive or anti-inflammatory effect in thermal injury. 61
8155434 1994
40
Time course of primary and secondary hyperalgesia after heat injury to the skin. 61
8123392 1993
41
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
42
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
43
[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 Position
1 CAV3 , SSUH2 NM_033337.2(CAV3):c.99C>G (p.Asn33Lys) SNV Pathogenic 8289 rs1008642 GRCh37: 3:8775661-8775661
GRCh38: 3:8733975-8733975
2 CAV3 , SSUH2 NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) SNV Pathogenic 8283 rs116840778 GRCh37: 3:8775642-8775642
GRCh38: 3:8733956-8733956
3 CAV3 NM_033337.3(CAV3):c.299T>A (p.Ile100Asn) SNV Likely pathogenic 973213 GRCh37: 3:8787396-8787396
GRCh38: 3:8745710-8745710
4 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) SNV Uncertain significance 8279 rs116840776 GRCh37: 3:8787313-8787313
GRCh38: 3:8745627-8745627
5 CAV3 NM_001234.5(CAV3):c.400G>A (p.Ala134Thr) SNV Uncertain significance 288112 rs773309037 GRCh37: 3:8787497-8787497
GRCh38: 3:8745811-8745811
6 CAV3 , SSUH2 NM_033337.3(CAV3):c.27C>T (p.Leu9=) SNV Benign 31716 rs1974763 GRCh37: 3:8775589-8775589
GRCh38: 3:8733903-8733903

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

72
# 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....