MCID: MTC025
MIFTS: 20

Mitochondrial Myopathy with Diabetes

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

Aliases & Classifications for Mitochondrial Myopathy with Diabetes

MalaCards integrated aliases for Mitochondrial Myopathy with Diabetes:

Name: Mitochondrial Myopathy with Diabetes 53 49 28
Mitochondrial Myopathy, Lipid Type 53 49
Myopathy and Diabetes Mellitus 55

Characteristics:

OMIM:

53
Inheritance:
mitochondrial

Miscellaneous:
highly variable clinical phenotype
variable age at onset (birth to adult)


HPO:

31
mitochondrial myopathy with diabetes:
Onset and clinical course phenotypic variability
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM 53 500002
Orphanet 55 ORPHA2596
UMLS via Orphanet 70 C1839028
MedGen 39 C1839028

Summaries for Mitochondrial Myopathy with Diabetes

MalaCards based summary : Mitochondrial Myopathy with Diabetes, also known as mitochondrial myopathy, lipid type, is related to diabetes mellitus and myopathy, and has symptoms including ataxia, dysarthria and facial palsy. An important gene associated with Mitochondrial Myopathy with Diabetes is MT-TE (Mitochondrially Encoded TRNA Glutamic Acid).

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:

# Related Disease Score Top Affiliating Genes
1 diabetes mellitus 9.8
2 myopathy 9.8
3 encephalomyopathy 9.8

Symptoms & Phenotypes for Mitochondrial Myopathy with Diabetes

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
cerebellar ataxia
dysarthria
hyporeflexia
delayed motor development
intellectual delay

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
weakness of orbicularis oculi muscles

Muscle Soft Tissue:
proximal muscle weakness
hypotonia
emg shows myopathic changes
proximal muscle wasting
myopathy, proximal
more
Head And Neck Face:
facial weakness

Endocrine Features:
diabetes mellitus, insulin-dependent
diabetes mellitus, noninsulin-dependent


Clinical features from OMIM:

500002

Human phenotypes related to Mitochondrial Myopathy with Diabetes:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 dysarthria 31 HP:0001260
3 facial palsy 31 HP:0010628
4 type ii diabetes mellitus 31 HP:0005978
5 elevated serum creatine phosphokinase 31 HP:0003236
6 ragged-red muscle fibers 31 HP:0003200
7 mitochondrial myopathy 31 HP:0003737
8 hyporeflexia 31 HP:0001265
9 motor delay 31 HP:0001270
10 proximal amyotrophy 31 HP:0007126
11 proximal muscle weakness 31 HP:0003701
12 generalized hypotonia 31 HP:0001290
13 emg 31 HP:0003458
14 decreased activity of mitochondrial complex iv 31 HP:0008347
15 weakness of orbicularis oculi muscle 31 HP:0012507

Drugs & Therapeutics for Mitochondrial Myopathy with Diabetes

Search Clinical Trials , NIH Clinical Center for Mitochondrial Myopathy with Diabetes

Genetic Tests for Mitochondrial Myopathy with Diabetes

Genetic tests related to Mitochondrial Myopathy with Diabetes:

# Genetic test Affiliating Genes
1 Mitochondrial Myopathy with Diabetes 28

Anatomical Context for Mitochondrial Myopathy with Diabetes

Publications for Mitochondrial Myopathy with Diabetes

Articles related to Mitochondrial Myopathy with Diabetes:

# Title Authors Year
1
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. ( 7726155 )
1995

Variations for Mitochondrial Myopathy with Diabetes

ClinVar genetic disease variations for Mitochondrial Myopathy with Diabetes:

6
# 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
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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