MIDD
MCID: DBT090
MIFTS: 45

Diabetes and Deafness, Maternally Inherited (MIDD)

Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Diabetes and Deafness, Maternally Inherited

MalaCards integrated aliases for Diabetes and Deafness, Maternally Inherited:

Name: Diabetes and Deafness, Maternally Inherited 57 53
Midd 57 53 25 59
Maternally Inherited Diabetes and Deafness 76 53 25
Noninsulin-Dependent Diabetes Mellitus with Deafness 57 25
Diabetes-Deafness Syndrome, Maternally Transmitted 57 53
Diabetes-Deafness Syndrome Maternally Transmitted 29 6
Diabetes Mellitus, Type Ii, with Deafness 57 25
Ballinger-Wallace Syndrome 57 25
Niddm with Deafness 57 25
Maternally Transmitted Diabetes-Deafness Syndrome 25
Mitochondrial Inherited Diabetes and Deafness 25
Maternally-Inherited Diabetes and Deafness 59
Diabetes Mellitus Type Ii with Deafness 53
Ballinger Wallace Syndrome 53
Mitochondrial Diabetes 59

Characteristics:

Orphanet epidemiological data:

59
maternally-inherited diabetes and deafness
Inheritance: Mitochondrial inheritance; Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
mitochondrial

Miscellaneous:
variable features
onset of deafness and diabetes in adulthood


HPO:

32
diabetes and deafness, maternally inherited:
Inheritance mitochondrial inheritance


Classifications:



Summaries for Diabetes and Deafness, Maternally Inherited

NIH Rare Diseases : 53 Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. MIDD is caused by mutations in the MT-TL1, MT-TK, or MT-TE gene. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cellnucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). Because the genes involved with MIDD are found in mitochondrial DNA, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children.

MalaCards based summary : Diabetes and Deafness, Maternally Inherited, also known as midd, is related to non-amyloid monoclonal immunoglobulin deposition disease and aceruloplasminemia. An important gene associated with Diabetes and Deafness, Maternally Inherited is MT-TE (Mitochondrially Encoded TRNA Glutamic Acid), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include cerebellum, heart and eye, and related phenotypes are hypertension and ataxia

Genetics Home Reference : 25 Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.

OMIM : 57 Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms (Ballinger et al., 1992; Reardon et al., 1992; Guillausseau et al., 2001). The association of diabetes and deafness is observed with Wolfram syndrome (see 222300), Rogers syndrome (249270), and Herrmann syndrome (172500), but all 3 of these disorders have other clinical manifestations. (520000)

Wikipedia : 76 Diabetes mellitus and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) or... more...

Related Diseases for Diabetes and Deafness, Maternally Inherited

Graphical network of the top 20 diseases related to Diabetes and Deafness, Maternally Inherited:



Diseases related to Diabetes and Deafness, Maternally Inherited

Symptoms & Phenotypes for Diabetes and Deafness, Maternally Inherited

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
dysarthria
unsteady gait
dizziness

Laboratory Abnormalities:
hyperglycemia

Cardiovascular Heart:
cardiomyopathy (in some)

Head And Neck Eyes:
external ophthalmoplegia
concentric narrowing of visual fields
pigmentary retinal degeneration
macular pattern dystrophy
normal visual acuity
more
Head And Neck Ears:
deafness, neurosensory
impaired vestibular function

Endocrine Features:
diabetes mellitus (niddm)


Clinical features from OMIM:

520000

Human phenotypes related to Diabetes and Deafness, Maternally Inherited:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
4 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
5 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
6 type ii diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005978
7 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
8 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
10 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
11 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
12 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
13 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
14 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
15 congestive heart failure 59 32 frequent (33%) Frequent (79-30%) HP:0001635
16 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
17 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
18 glomerulopathy 59 32 frequent (33%) Frequent (79-30%) HP:0100820
19 abnormality of lipid metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0003119
20 external ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000544
21 macular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007754
22 ptosis 32 occasional (7.5%) HP:0000508
23 seizures 32 HP:0001250
24 dysarthria 32 HP:0001260
25 cardiomyopathy 32 occasional (7.5%) HP:0001638
26 vertigo 32 HP:0002321
27 chorioretinal abnormality 59 Very frequent (99-80%)
28 constriction of peripheral visual field 32 HP:0001133
29 vestibular dysfunction 32 HP:0001751
30 unsteady gait 32 HP:0002317
31 pigmentary retinopathy 32 HP:0000580
32 hyperglycemia 32 HP:0003074
33 retinal degeneration 32 HP:0000546
34 abnormal chorioretinal morphology 32 hallmark (90%) HP:0000532

Drugs & Therapeutics for Diabetes and Deafness, Maternally Inherited

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The KHENERGY Study Completed NCT02909400 Phase 2 KH176;placebo
2 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554

Search NIH Clinical Center for Diabetes and Deafness, Maternally Inherited

Genetic Tests for Diabetes and Deafness, Maternally Inherited

Genetic tests related to Diabetes and Deafness, Maternally Inherited:

# Genetic test Affiliating Genes
1 Diabetes-Deafness Syndrome Maternally Transmitted 29

Anatomical Context for Diabetes and Deafness, Maternally Inherited

MalaCards organs/tissues related to Diabetes and Deafness, Maternally Inherited:

41
Cerebellum, Heart, Eye, Kidney, Brain, Skeletal Muscle

Publications for Diabetes and Deafness, Maternally Inherited

Articles related to Diabetes and Deafness, Maternally Inherited:

(show top 50) (show all 55)
# Title Authors Year
1
Maternally inherited diabetes and deafness complicated by mesangial galactose-deficient IgA1 deposits: a case report. ( 30526529 )
2018
2
CHORIOCAPILLARIS SIGNAL VOIDS IN MATERNALLY INHERITED DIABETES AND DEAFNESS AND IN PSEUDOXANTHOMA ELASTICUM. ( 28092344 )
2017
3
Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation. ( 27422531 )
2017
4
Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy. ( 28140742 )
2017
5
RETINAL VEIN OCCLUSION IN A PATIENT WITH MATERNALLY INHERITED DIABETES AND DEAFNESS. ( 27548038 )
2017
6
Bilateral chorea-ballism and diabetic ketoacidosis as the initial presentation of a case with maternally inherited diabetes and deafness. ( 28361170 )
2017
7
Visual, Ocular Motor, and Cochleo-Vestibular Loss in Patients With Heteroplasmic, Maternally-Inherited Diabetes Mellitus and Deafness (MIDD), 3243 Transfer RNA Mutation. ( 26741293 )
2016
8
A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with sever nephropathy. ( 25701779 )
2015
9
Convulsion and cerebellar ataxia associated with maternally inherited diabetes and deafness: a case report. ( 26273464 )
2015
10
Genetic background and phenotypic heterogeneity of MELAS and maternally inherited diabetes and deafness. ( 26823911 )
2015
11
Renal transplantation in amyloidosis and MIDD. ( 25553370 )
2015
12
Maternally inherited diabetes and deafness (MIDD): diagnosis and management. ( 24746802 )
2014
13
A review of maternally inherited diabetes and deafness. ( 24389221 )
2014
14
Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy. ( 23314478 )
2013
15
Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: clinical pathological analysis. ( 24152508 )
2013
16
Visual function and risk genotypes in maternally inherited diabetes and deafness. ( 24093199 )
2013
17
A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions. ( 23357420 )
2013
18
Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy. ( 22869689 )
2012
19
Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient. ( 22049499 )
2012
20
MIDD or MELAS : that's not the question MIDD evolving into MELAS : a severe phenotype of the m.3243A>G mutation due to paternal co-inheritance of type 2 diabetes and a high heteroplasmy level. ( 23230016 )
2012
21
A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness. ( 21994425 )
2011
22
Ptosis as an associated finding in maternally inherited diabetes and deafness. ( 21067488 )
2010
23
Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA. ( 19864902 )
2010
24
Brain anomalies in maternally inherited diabetes and deafness syndrome. ( 19536585 )
2009
25
A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern. ( 19116951 )
2009
26
Phosphorus-31 magnetic resonance spectroscopy of skeletal muscle in maternally inherited diabetes and deafness A3243G mitochondrial mutation carriers. ( 19097109 )
2009
27
The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. ( 19470619 )
2009
28
Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness. ( 21475792 )
2009
29
Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10. ( 19169492 )
2008
30
Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome. ( 18950542 )
2008
31
Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka. ( 18279408 )
2008
32
Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. ( 19169474 )
2008
33
Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. ( 18294221 )
2008
34
New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome. ( 16632100 )
2006
35
Progressive sensorineural hearing impairment in maternally inherited diabetes mellitus and deafness (MIDD). ( 16788417 )
2006
36
Chorea triggered by hyperglycemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification. ( 15654564 )
2005
37
MIDD and MELAS: a clinical spectrum. ( 15897633 )
2005
38
A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI). ( 15897646 )
2005
39
Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). ( 15223991 )
2004
40
Gastrointestinal tract symptoms in Maternally Inherited Diabetes and Deafness (MIDD). ( 15029099 )
2004
41
Maternally inherited diabetes and deafness (MIDD) syndrome: a clinical and molecular genetic study of a Taiwanese family. ( 15074893 )
2004
42
Cosegregation of MIDD and MODY in a pedigree: functional and clinical consequences. ( 15220216 )
2004
43
Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA. ( 11240563 )
2001
44
Diminished insulin secretory response to glucose but normal insulin and glucagon secretory responses to arginine in a family with maternally inherited diabetes and deafness caused by mitochondrial tRNA(LEU(UUR)) gene mutation. ( 11423511 )
2001
45
Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family. ( 10826513 )
2000
46
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. ( 10366077 )
1999
47
Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease. ( 10230654 )
1999
48
Retinal branch vein occlusion associated with macular dystrophy, maternally inherited diabetes, and deafness. ( 9361314 )
1997
49
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report. ( 9353617 )
1997
50
Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation. ( 9266470 )
1997

Variations for Diabetes and Deafness, Maternally Inherited

ClinVar genetic disease variations for Diabetes and Deafness, Maternally Inherited:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TK m.8296A> G single nucleotide variant Pathogenic rs118192102 GRCh37 Chromosome MT, 8296: 8296
2 MT-TK m.8296A> G single nucleotide variant Pathogenic rs118192102 GRCh38 Chromosome MT, 8296: 8296
3 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
4 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh38 Chromosome MT, 3243: 3243
5 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh37 Chromosome MT, 14709: 14709
6 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh38 Chromosome MT, 14709: 14709
7 MT-TE NC_012920.1: m.14692A> G single nucleotide variant Pathogenic rs879192165 GRCh37 Chromosome MT, 14692: 14692
8 MT-TE NC_012920.1: m.14692A> G single nucleotide variant Pathogenic rs879192165 GRCh38 Chromosome MT, 14692: 14692

Expression for Diabetes and Deafness, Maternally Inherited

Search GEO for disease gene expression data for Diabetes and Deafness, Maternally Inherited.

Pathways for Diabetes and Deafness, Maternally Inherited

Pathways related to Diabetes and Deafness, Maternally Inherited according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 MT-TE MT-TK MT-TL1

GO Terms for Diabetes and Deafness, Maternally Inherited

Sources for Diabetes and Deafness, Maternally Inherited

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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