MCID: MTC025
MIFTS: 27

Mitochondrial Myopathy with Diabetes

Categories: Endocrine diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Mitochondrial Myopathy with Diabetes

MalaCards integrated aliases for Mitochondrial Myopathy with Diabetes:

Name: Mitochondrial Myopathy with Diabetes 57 19
Mitochondrial Myopathy, Lipid Type 57 19
Myopathy and Diabetes Mellitus 58 28
Myopathy, Mitochondrial, with Diabetes Mellitus 5

Characteristics:


Inheritance:

Mitochondrial 57

Age Of Onset:

Myopathy and Diabetes Mellitus: Adolescent,Adult,Childhood,Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
highly variable clinical phenotype
variable age at onset (birth to adult)


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Mitochondrial Myopathy with Diabetes

GARD: 19 A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.

MalaCards based summary: Mitochondrial Myopathy with Diabetes, also known as mitochondrial myopathy, lipid type, is related to diabetes and deafness, maternally inherited and myopathy. An important gene associated with Mitochondrial Myopathy with Diabetes is MT-TE (Mitochondrially Encoded TRNA-Glu (GAA/G)). Related phenotypes are type i diabetes mellitus and proximal amyotrophy

Orphanet: 58 A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.

More information 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 and deafness, maternally inherited 10.1
2 myopathy 10.1
3 batten-turner congenital myopathy 10.0
4 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.0
5 aceruloplasminemia 10.0
6 mitochondrial disease 10.0

Graphical network of the top 20 diseases related to Mitochondrial Myopathy with Diabetes:



Diseases related to Mitochondrial Myopathy with Diabetes

Symptoms & Phenotypes for Mitochondrial Myopathy with Diabetes

Human phenotypes related to Mitochondrial Myopathy with Diabetes:

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type i diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100651
2 proximal amyotrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007126
3 skeletal myopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003756
4 babinski sign 58 30 Very rare (1%) Frequent (79-30%)
HP:0003487
5 progressive proximal muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0009073
6 shoulder girdle muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0003547
7 inability to walk 58 30 Frequent (33%) Frequent (79-30%)
HP:0002540
8 difficulty climbing stairs 58 30 Frequent (33%) Frequent (79-30%)
HP:0003551
9 exercise intolerance 58 30 Very rare (1%) Frequent (79-30%)
HP:0003546
10 lower limb hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002395
11 difficulty running 58 30 Frequent (33%) Frequent (79-30%)
HP:0009046
12 hyporeflexia of upper limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0012391
13 dysarthria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001260
14 pelvic girdle muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003749
15 myalgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003326
16 intellectual disability, moderate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002342
17 respiratory distress 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002098
18 frequent falls 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002359
19 progressive cerebellar ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002073
20 peripheral axonal neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003477
21 distal lower limb amyotrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008944
22 tip-toe gait 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030051
23 sternocleidomastoid amyotrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012036
24 weakness of orbicularis oculi muscle 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012507
25 sensorineural hearing impairment 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000407
26 neonatal hypotonia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001319
27 achilles tendon contracture 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001771
28 schizophrenia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100753
29 impaired vibratory sensation 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002495
30 dementia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000726
31 delirium 58 30 Very rare (1%) Very rare (<4-1%)
HP:0031258
32 type ii diabetes mellitus 30 Very rare (1%) HP:0005978
33 ragged-red muscle fibers 30 Very rare (1%) HP:0003200
34 neck muscle weakness 30 Very rare (1%) HP:0000467
35 difficulty walking 30 Very rare (1%) HP:0002355
36 limb muscle weakness 30 Very rare (1%) HP:0003690
37 cytochrome c oxidase-negative muscle fibers 30 Very rare (1%) HP:0003688
38 ataxia 30 HP:0001251
39 facial palsy 30 HP:0010628
40 emg: myopathic abnormalities 30 HP:0003458
41 motor delay 30 HP:0001270
42 hyporeflexia 30 HP:0001265
43 mitochondrial myopathy 30 HP:0003737
44 weakness of facial musculature 58 Occasional (29-5%)
45 generalized hypotonia 30 HP:0001290
46 proximal muscle weakness 30 HP:0003701
47 decreased activity of mitochondrial complex iv 30 HP:0008347
48 hypotonia 30 HP:0001252
49 elevated circulating creatine kinase concentration 30 HP:0003236

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
dysarthria
hyporeflexia
cerebellar ataxia
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
myopathic changes seen on emg
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 (Updated 24-Oct-2022)

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 Myopathy and Diabetes Mellitus 28

Anatomical Context for Mitochondrial Myopathy with Diabetes

Publications for Mitochondrial Myopathy with Diabetes

Articles related to Mitochondrial Myopathy with Diabetes:

(show all 15)
# Title Authors PMID Year
1
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. 62 57 5
7726154 1995
2
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. 62 57 5
7726155 1995
3
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. 57 5
15048886 2004
4
Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 1. Clinical, electrophysiological and pathological findings. 57 5
4114165 1972
5
Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness. 5
12393175 2002
6
Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. 5
11437868 2001
7
Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review. 5
10392369 1999
8
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report. 5
9353617 1997
9
Mitochondrial myopathies. Clinical, morphological and biochemical aspects. 57
6329761 1984
10
Mitochondrial myopathy. 57
7229664 1981
11
Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 2. Biochemical findings. 57
4716844 1973
12
Lipid storage myopathy: a recognizable clinicopathological entity? 57
4715530 1973
13
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene. 62
17891417 2008
14
Glucocorticoids and oxidative stress. 62
17715567 2007
15
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation. 62
15607216 2005

Variations for Mitochondrial Myopathy with Diabetes

ClinVar genetic disease variations for Mitochondrial Myopathy with Diabetes:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TE m.14709T>C SNV Pathogenic
9617 rs121434453 GRCh37: MT:14709-14709
GRCh38: 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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