MCID: MTC025
MIFTS: 24

Mitochondrial Myopathy with Diabetes

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

Aliases & Classifications for Mitochondrial Myopathy with Diabetes

MalaCards integrated aliases for Mitochondrial Myopathy with Diabetes:

Name: Mitochondrial Myopathy with Diabetes 56 52 29
Mitochondrial Myopathy, Lipid Type 56 52
Myopathy, Mitochondrial, with Diabetes Mellitus 6
Myopathy and Diabetes Mellitus 58

Characteristics:

OMIM:

56
Inheritance:
mitochondrial

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


HPO:

31
mitochondrial myopathy with diabetes:
Inheritance mitochondrial inheritance


Classifications:

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


Summaries for Mitochondrial Myopathy with Diabetes

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2596 Definition 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. Visit the Orphanet disease page for more resources.

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

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 myopathy, congenital 9.9
4 ataxia and polyneuropathy, adult-onset 9.9
5 aceruloplasminemia 9.9

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

Symptoms via clinical synopsis from OMIM:

56
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

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:

(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. 61 56 6
7726154 1995
2
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. 61 56 6
7726155 1995
3
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. 56 6
15048886 2004
4
Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 1. Clinical, electrophysiological and pathological findings. 56 6
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. 6
12393175 2002
6
Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. 6
11437868 2001
7
Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review. 6
10392369 1999
8
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report. 6
9353617 1997
9
Mitochondrial myopathies. Clinical, morphological and biochemical aspects. 56
6329761 1984
10
Mitochondrial myopathy. 56
7229664 1981
11
Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 2. Biochemical findings. 56
4716844 1973
12
Lipid storage myopathy: a recognizable clinicopathological entity? 56
4715530 1973
13
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene. 61
17891417 2008
14
Glucocorticoids and oxidative stress. 61
17715567 2007
15
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation. 61
15607216 2005

Variations for Mitochondrial Myopathy with Diabetes

ClinVar genetic disease variations for Mitochondrial Myopathy with Diabetes:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TE m.14709T>CSNV Likely pathogenic 9617 rs121434453 MT:14709-14709 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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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