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 57 53 29
Mitochondrial Myopathy, Lipid Type 57 53
Myopathy, Mitochondrial, with Diabetes Mellitus 6
Myopathy and Diabetes Mellitus 59

Characteristics:

OMIM:

57
Inheritance:
mitochondrial

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


HPO:

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


Classifications:



External Ids:

OMIM 57 500002
Orphanet 59 ORPHA2596
UMLS via Orphanet 74 C1839028
MedGen 42 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. An important gene associated with Mitochondrial Myopathy with Diabetes is MT-TE (Mitochondrially Encoded TRNA Glutamic Acid). Related phenotypes are ataxia and muscular hypotonia

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:

57
Neurologic Central Nervous System:
dysarthria
hyporeflexia
delayed motor development
cerebellar ataxia
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:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 muscular hypotonia 32 HP:0001252
3 dysarthria 32 HP:0001260
4 hyporeflexia 32 HP:0001265
5 motor delay 32 HP:0001270
6 generalized hypotonia 32 HP:0001290
7 ragged-red muscle fibers 32 HP:0003200
8 elevated serum creatine phosphokinase 32 HP:0003236
9 emg 32 HP:0003458
10 proximal muscle weakness 32 HP:0003701
11 mitochondrial myopathy 32 HP:0003737
12 type ii diabetes mellitus 32 HP:0005978
13 proximal amyotrophy 32 HP:0007126
14 decreased activity of mitochondrial complex iv 32 HP:0008347
15 facial palsy 32 HP:0010628
16 weakness of orbicularis oculi muscle 32 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 29

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
2 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh38 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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