MCID: DBT090
MIFTS: 40

Diabetes and Deafness, Maternally Inherited

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

Aliases & Classifications for Diabetes and Deafness, Maternally Inherited

MalaCards integrated aliases for Diabetes and Deafness, Maternally Inherited:

Name: Diabetes and Deafness, Maternally Inherited 53 49
Midd 53 49 24 55
Maternally Inherited Diabetes and Deafness 72 49 24
Noninsulin-Dependent Diabetes Mellitus with Deafness 53 24
Diabetes-Deafness Syndrome, Maternally Transmitted 53 49
Diabetes Mellitus, Type Ii, with Deafness 53 24
Ballinger-Wallace Syndrome 53 24
Niddm with Deafness 53 24
Maternally Transmitted Diabetes-Deafness Syndrome 24
Diabetes-Deafness Syndrome Maternally Transmitted 28
Mitochondrial Inherited Diabetes and Deafness 24
Maternally-Inherited Diabetes and Deafness 55
Diabetes Mellitus Type Ii with Deafness 49
Ballinger Wallace Syndrome 49
Mitochondrial Diabetes 55

Characteristics:

Orphanet epidemiological data:

55
maternally-inherited diabetes and deafness
Inheritance: Mitochondrial inheritance; Age of onset: All ages; Age of death: any age;

OMIM:

53
Inheritance:
mitochondrial

Miscellaneous:
variable features
onset of deafness and diabetes in adulthood


HPO:

31
diabetes and deafness, maternally inherited:
Inheritance mitochondrial inheritance


Classifications:



Summaries for Diabetes and Deafness, Maternally Inherited

NIH Rare Diseases : 49 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. Last updated: 2/20/2014

MalaCards based summary : Diabetes and Deafness, Maternally Inherited, also known as midd, is related to kearns-sayre syndrome and non-amyloid monoclonal immunoglobulin deposition disease, and has symptoms including ataxia, constipation and myalgia. An important gene associated with Diabetes and Deafness, Maternally Inherited is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include heart, eye and cerebellum.

Genetics Home Reference : 24 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 : 53 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 : 72 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:

53
Neurologic Central Nervous System:
seizures
dizziness
dysarthria
unsteady gait

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:

55 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001251
2 constipation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002019
3 myalgia 55 31 frequent (33%) Frequent (79-30%) HP:0003326
4 muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0001324
5 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
6 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
7 type ii diabetes mellitus 55 31 hallmark (90%) Very frequent (99-80%) HP:0005978
8 malabsorption 55 31 hallmark (90%) Very frequent (99-80%) HP:0002024
9 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
10 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
11 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
12 proteinuria 55 31 frequent (33%) Frequent (79-30%) HP:0000093
13 retinopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000488
14 hypertrophic cardiomyopathy 55 31 frequent (33%) Frequent (79-30%) HP:0001639
15 arrhythmia 55 31 frequent (33%) Frequent (79-30%) HP:0011675
16 congestive heart failure 55 31 frequent (33%) Frequent (79-30%) HP:0001635
17 aplasia/hypoplasia of the cerebellum 55 31 frequent (33%) Frequent (79-30%) HP:0007360
18 glomerulopathy 55 31 frequent (33%) Frequent (79-30%) HP:0100820
19 abnormality of lipid metabolism 55 31 frequent (33%) Frequent (79-30%) HP:0003119
20 external ophthalmoplegia 55 31 frequent (33%) Frequent (79-30%) HP:0000544
21 macular dystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0007754
22 seizures 31 HP:0001250
23 vertigo 31 HP:0002321
24 ptosis 31 occasional (7.5%) HP:0000508
25 dysarthria 31 HP:0001260
26 cardiomyopathy 31 occasional (7.5%) HP:0001638
27 chorioretinal abnormality 55 Very frequent (99-80%)
28 unsteady gait 31 HP:0002317
29 pigmentary retinopathy 31 HP:0000580
30 hyperglycemia 31 HP:0003074
31 retinal degeneration 31 HP:0000546
32 constriction of peripheral visual field 31 HP:0001133
33 abnormal chorioretinal morphology 31 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 28

Anatomical Context for Diabetes and Deafness, Maternally Inherited

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

38
Heart, Eye, Cerebellum

Publications for Diabetes and Deafness, Maternally Inherited

Articles related to Diabetes and Deafness, Maternally Inherited:

(show all 31)
# Title Authors Year
1
CHORIOCAPILLARIS SIGNAL VOIDS IN MATERNALLY INHERITED DIABETES AND DEAFNESS AND IN PSEUDOXANTHOMA ELASTICUM. ( 28092344 )
2017
2
Genetic background and phenotypic heterogeneity of MELAS and maternally inherited diabetes and deafness. ( 26823911 )
2015
3
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
4
Convulsion and cerebellar ataxia associated with maternally inherited diabetes and deafness: a case report. ( 26273464 )
2015
5
A review of maternally inherited diabetes and deafness. ( 24389221 )
2014
6
Maternally inherited diabetes and deafness (MIDD): diagnosis and management. ( 24746802 )
2014
7
Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy. ( 23314478 )
2013
8
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
9
Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: clinical pathological analysis. ( 24152508 )
2013
10
Visual function and risk genotypes in maternally inherited diabetes and deafness. ( 24093199 )
2013
11
Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient. ( 22049499 )
2012
12
Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy. ( 22869689 )
2012
13
Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism. ( 23295301 )
2012
14
A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness. ( 21994425 )
2011
15
Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA. ( 19864902 )
2010
16
Ptosis as an associated finding in maternally inherited diabetes and deafness. ( 21067488 )
2010
17
Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness. ( 21475792 )
2009
18
Brain anomalies in maternally inherited diabetes and deafness syndrome. ( 19536585 )
2009
19
The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. ( 19470619 )
2009
20
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
21
Phosphorus-31 magnetic resonance spectroscopy of skeletal muscle in maternally inherited diabetes and deafness A3243G mitochondrial mutation carriers. ( 19097109 )
2009
22
Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10. ( 19169492 )
2008
23
Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case-control study. ( 18581092 )
2008
24
Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome. ( 18950542 )
2008
25
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
26
Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. ( 19169474 )
2008
27
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
28
Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). ( 15223991 )
2004
29
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
30
Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA. ( 11240563 )
2001
31
Retinal branch vein occlusion associated with macular dystrophy, maternally inherited diabetes, and deafness. ( 9361314 )
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-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
3 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh37 Chromosome MT, 14709: 14709
4 MT-TE NC_012920.1: m.14692A> G single nucleotide variant Pathogenic rs879192165 GRCh37 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
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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