MCID: MTC025
MIFTS: 21

Mitochondrial Myopathy with Diabetes malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Mitochondrial Myopathy with Diabetes

Aliases & Descriptions for Mitochondrial Myopathy with Diabetes:

Name: Mitochondrial Myopathy with Diabetes 54 50 24 29
Mitochondrial Myopathy, Lipid Type 50 24
Myopathy and Diabetes Mellitus 56

Characteristics:

HPO:

32
mitochondrial myopathy with diabetes:
Onset and clinical course phenotypic variability
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM 54 500002
Orphanet 56 ORPHA2596

Summaries for Mitochondrial Myopathy with Diabetes

MalaCards based summary : Mitochondrial Myopathy with Diabetes, also known as mitochondrial myopathy, lipid type, is related to myopathy and encephalomyopathy, and has symptoms including ataxia, muscular hypotonia and dysarthria. An important gene associated with Mitochondrial Myopathy with Diabetes is MT-TE (Mitochondrially Encoded TRNA Glutamic Acid). The drugs Simvastatin and Menthol have been mentioned in the context of this disorder.

Description from OMIM: 500002

Related Diseases for Mitochondrial Myopathy with Diabetes

Diseases related to Mitochondrial Myopathy with Diabetes via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 myopathy 9.7
2 encephalomyopathy 9.7

Symptoms & Phenotypes for Mitochondrial Myopathy with Diabetes

Symptoms by clinical synopsis from OMIM:

500002

Clinical features from OMIM:

500002

Human phenotypes related to Mitochondrial Myopathy with Diabetes:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 muscular hypotonia 32 HP:0001252
3 dysarthria 32 HP:0001260
4 facial palsy 32 HP:0010628
5 type ii diabetes mellitus 32 HP:0005978
6 elevated serum creatine phosphokinase 32 HP:0003236
7 ragged-red muscle fibers 32 HP:0003200
8 mitochondrial myopathy 32 HP:0003737
9 hyporeflexia 32 HP:0001265
10 motor delay 32 HP:0001270
11 proximal amyotrophy 32 HP:0007126
12 proximal muscle weakness 32 HP:0003701
13 emg 32 HP:0003458
14 decreased activity of mitochondrial complex iv 32 HP:0008347
15 weakness of orbicularis oculi muscle 32 HP:0012507

Drugs & Therapeutics for Mitochondrial Myopathy with Diabetes

Drugs for Mitochondrial Myopathy with Diabetes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2
Menthol Approved Phase 3 2216-51-5 16666
3
Cholecalciferol Approved, Nutraceutical Phase 3 67-97-0 6221 10883523 5280795
4
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
5 vitamin d Phase 3
6 Trace Elements Phase 3
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
8 Ergocalciferols Phase 3
9 Vitamins Phase 3
10 Hypolipidemic Agents Phase 3,Phase 2
11 Anticholesteremic Agents Phase 3
12 Lipid Regulating Agents Phase 3,Phase 2
13 Antimetabolites Phase 3,Phase 2
14 Micronutrients Phase 3
15 Bone Density Conservation Agents Phase 3
16 Vitamin D2 Nutraceutical Phase 3
17 Calciferol Nutraceutical Phase 3
18
Metformin Approved Phase 2 657-24-9 14219 4091
19
Bezafibrate Approved Phase 2 41859-67-0 39042
20 Hypoglycemic Agents Phase 2
21 Antipsychotic Agents Phase 2
22
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
23 Tocopherols
24 Tocotrienols
25 Protective Agents
26 Antioxidants
27 Tocopherol Nutraceutical
28 Tocotrienol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effect of Vitamin D Supplementation on Exercise Adaptations in Patients on Statin Therapy Completed NCT02030041 Phase 3
2 Heart Rate Variability in Response to Metformin Challenge Completed NCT02500628 Phase 2
3 A Study of Bezafibrate in Mitochondrial Myopathy Recruiting NCT02398201 Phase 2
4 The KHENERGY Study Recruiting NCT02909400 Phase 2
5 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
6 Nutritional Assessment in Mitochondrial Cytopathy Completed NCT02375438
7 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant Completed NCT00654004
8 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
9 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
10 Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy Terminated NCT00840112

Search NIH Clinical Center for Mitochondrial Myopathy with Diabetes

Genetic Tests for Mitochondrial Myopathy with Diabetes

Genetic tests related to Mitochondrial Myopathy with Diabetes:

id Genetic test Affiliating Genes
1 Mitochondrial Myopathy with Diabetes 29 24 MT-TE

Anatomical Context for Mitochondrial Myopathy with Diabetes

Publications for Mitochondrial Myopathy with Diabetes

Variations for Mitochondrial Myopathy with Diabetes

ClinVar genetic disease variations for Mitochondrial Myopathy with Diabetes:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh37 Chromosome MT, 14709: 14709

Expression for Mitochondrial Myopathy with Diabetes

Search GEO for disease gene expression data for Mitochondrial Myopathy with Diabetes.

Pathways for Mitochondrial Myopathy with Diabetes

GO Terms for Mitochondrial Myopathy with Diabetes

Sources for Mitochondrial Myopathy with Diabetes

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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