MCID: MTR046
MIFTS: 44

Maternally Inherited Diabetes and Deafness malady

Rare diseases, Eye diseases, Ear diseases, Metabolic diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Maternally Inherited Diabetes and Deafness

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Maternally Inherited Diabetes and Deafness, Aliases & Descriptions:

Name: Maternally Inherited Diabetes and Deafness 41 21
Midd 41 21 47
Maternally Transmitted Diabetes-Deafness Syndrome 21 22
Maternally-Inherited Diabetes and Deafness 41 47
Mitochondrial Diabetes 41 47
Noninsulin-Dependent Diabetes Mellitus with Deafness 21
Diabetes-Deafness Syndrome, Maternally Transmitted 41
 
Mitochondrial Inherited Diabetes and Deafness 21
Diabetes and Deafness, Maternally Inherited 41
Diabetes Mellitus, Type Ii, with Deafness 21
Diabetes Mellitus Type Ii with Deafness 41
Ballinger Wallace Syndrome 41
Ballinger-Wallace Syndrome 21
Niddm with Deafness 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
midd:
Inheritance: Mitochondrial inheritance; Age of onset: All ages; Age of death: any age


External Ids:

Orphanet47 225
MESH via Orphanet34 C536246
ICD10 via Orphanet26 E13.8
UMLS via Orphanet61 C0342289

Summaries for Maternally Inherited Diabetes and Deafness

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NIH Rare Diseases:41 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 cell nucleus, 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: Maternally Inherited Diabetes and Deafness, also known as midd, is related to hyperglycemia and retinitis, and has symptoms including sensorineural hearing impairment, chorioretinal abnormality and diabetes mellitus. An important gene associated with Maternally Inherited Diabetes and Deafness is MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G)), and among its related pathways are tRNA Aminoacylation and Allograft rejection. The compounds 2-deoxyglucose and levodopa have been mentioned in the context of this disorder. Affiliated tissues include heart, cerebellum and eye.

Genetics Home Reference:21 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.

Related Diseases for Maternally Inherited Diabetes and Deafness

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



Diseases related to maternally inherited diabetes and deafness

Symptoms for Maternally Inherited Diabetes and Deafness

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Symptoms:

 47 (show all 23)
  • retinal/chorioretinal dysplasia/dystrophy
  • macular dystrophy/absence/hypoplasia of the macula
  • sensorineural deafness/hearing loss
  • malabsorption/chronic diarrhea/steatorrhea
  • constipation
  • diabetes mellitus
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • cardiomyopathy/hypertrophic/dilated
  • cardiac rhythm disorder/arrhythmia
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • heart/cardiac failure
  • chronic arterial hypertension
  • renal glomerular defect/glomerulopathy
  • proteinuria
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • muscle weakness/flaccidity
  • myalgia/muscular pain
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • cataract/lens opacification
  • retinopathy
  • visual loss/blindness/amblyopia
  • renal failure
  • ataxia/incoordination/trouble of the equilibrium

HPO human phenotypes related to Maternally Inherited Diabetes and Deafness:

(show all 22)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 chorioretinal abnormality hallmark (90%) HP:0000532
3 diabetes mellitus hallmark (90%) HP:0000819
4 abnormality of the macula hallmark (90%) HP:0001103
5 constipation hallmark (90%) HP:0002019
6 malabsorption hallmark (90%) HP:0002024
7 proteinuria typical (50%) HP:0000093
8 ophthalmoparesis typical (50%) HP:0000597
9 hypertension typical (50%) HP:0000822
10 muscle weakness typical (50%) HP:0001324
11 congestive heart failure typical (50%) HP:0001635
12 hypertrophic cardiomyopathy typical (50%) HP:0001639
13 abnormality of lipid metabolism typical (50%) HP:0003119
14 myalgia typical (50%) HP:0003326
15 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
16 arrhythmia typical (50%) HP:0011675
17 glomerulopathy typical (50%) HP:0100820
18 renal insufficiency occasional (7.5%) HP:0000083
19 retinopathy occasional (7.5%) HP:0000488
20 visual impairment occasional (7.5%) HP:0000505
21 cataract occasional (7.5%) HP:0000518
22 incoordination occasional (7.5%) HP:0002311

Drugs & Therapeutics for Maternally Inherited Diabetes and Deafness

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Drug clinical trials:

Search ClinicalTrials for Maternally Inherited Diabetes and Deafness

Search NIH Clinical Center for Maternally Inherited Diabetes and Deafness

Genetic Tests for Maternally Inherited Diabetes and Deafness

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Genetic tests related to Maternally Inherited Diabetes and Deafness:

id Genetic test Affiliating Genes
1 Diabetes-Deafness Syndrome Maternally Transmitted22

Anatomical Context for Maternally Inherited Diabetes and Deafness

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

31
Heart, Cerebellum, Eye, Brain, Skeletal muscle, Kidney

Animal Models for Maternally Inherited Diabetes and Deafness or affiliated genes

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Publications for Maternally Inherited Diabetes and Deafness

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Articles related to Maternally Inherited Diabetes and Deafness:

(show all 26)
idTitleAuthorsYear
1
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
2
A review of maternally inherited diabetes and deafness. (24389221)
2014
3
Maternally inherited diabetes and deafness (MIDD): diagnosis and management. (24746802)
2014
4
Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy. (23314478)
2013
5
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
6
Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: clinical pathological analysis. (24152508)
2013
7
Visual function and risk genotypes in maternally inherited diabetes and deafness. (24093199)
2013
8
Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy. (22869689)
2012
9
Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient. (22049499)
2012
10
A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness. (21994425)
2011
11
Ptosis as an associated finding in maternally inherited diabetes and deafness. (21067488)
2010
12
Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA. (19864902)
2010
13
Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness. (21475792)
2009
14
The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. (19470619)
2009
15
Phosphorus-31 magnetic resonance spectroscopy of skeletal muscle in maternally inherited diabetes and deafness A3243G mitochondrial mutation carriers. (19097109)
2009
16
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
17
Brain anomalies in maternally inherited diabetes and deafness syndrome. (19536585)
2009
18
Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome. (18950542)
2008
19
Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. (19169474)
2008
20
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
21
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
22
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
23
Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). (15223991)
2004
24
Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA. (11240563)
2001
25
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
26
Retinal branch vein occlusion associated with macular dystrophy, maternally inherited diabetes, and deafness. (9361314)
1997

Variations for Maternally Inherited Diabetes and Deafness

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Clinvar genetic disease variations for Maternally Inherited Diabetes and Deafness:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MT-TKm.8296A> Gsingle nucleotide variantPathogenicrs118192102GRCh37Chr MT, 8296: 8296
2MT-TL1m.3243A> Gsingle nucleotide variantPathogenicrs199474657GRCh37Chr MT, 3243: 3243
3MT-TEm.14709T> Csingle nucleotide variantPathogenicrs121434453GRCh37Chr MT, 14709: 14709

Expression for genes affiliated with Maternally Inherited Diabetes and Deafness

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

Pathways for genes affiliated with Maternally Inherited Diabetes and Deafness

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2MT-TK, MT-TE, MT-TL1
2
Show member pathways
8.5GAD1, PTPRN, INS

Compounds for genes affiliated with Maternally Inherited Diabetes and Deafness

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

(show all 23)
idCompoundScoreTop Affiliating Genes
12-deoxyglucose43 1211.1GAD1
2levodopa43 1210.5GAD1, CHKB
3beta-hydroxybutyrate439.5CHKB, INS
4gemfibrozil28 43 1211.5CHKB, INS
5clozapine43 28 49 1212.4CHKB, GAD1
6rosuvastatin43 49 28 1212.4CHKB, INS
7bezafibrate43 28 1211.4INS, CHKB
8ornithine43 2410.4GAD1, CHKB
9olanzapine43 49 28 24 1213.4CHKB, INS
10uric acid43 2410.4CHKB, INS
11carnitine439.3INS, CHKB
12prednisolone43 28 1211.3GAD1, CHKB
13streptozotocin439.3GAD1, INS
14thyroxine43 2410.1CHKB, INS
15cyclosporin a43 28 5911.1GAD1, CHKB, PTPRN
16choline43 24 1211.0GAD1, CHKB
17c-peptide438.9GAD1, PTPRN, INS
18creatinine438.8INS, CHKB, GAD1
19cholesterol43 28 24 1211.7GAD1, CHKB, INS
20alanine438.4INS, CHKB, GAD1
21arginine438.3INS, PTPRN, CHKB, GAD1
22glutamate438.3GAD1, CHKB, PTPRN, INS
23glucose438.3INS, PTPRN, CHKB, GAD1

GO Terms for genes affiliated with Maternally Inherited Diabetes and Deafness

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Products for genes affiliated with Maternally Inherited Diabetes and Deafness

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Sources for Maternally Inherited Diabetes and Deafness

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet