MCID: MTR046
MIFTS: 43

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:
45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Maternally Inherited Diabetes and Deafness:

Name: Maternally Inherited Diabetes and Deafness 45 23
Midd 45 23 51
Maternally Transmitted Diabetes-Deafness Syndrome 23 24
Noninsulin-Dependent Diabetes Mellitus with Deafness 23
Diabetes-Deafness Syndrome, Maternally Transmitted 45
Mitochondrial Inherited Diabetes and Deafness 23
Diabetes and Deafness, Maternally Inherited 45
 
Maternally-Inherited Diabetes and Deafness 51
Diabetes Mellitus, Type Ii, with Deafness 23
Diabetes Mellitus Type Ii with Deafness 45
Ballinger Wallace Syndrome 45
Ballinger-Wallace Syndrome 23
Mitochondrial Diabetes 51
Niddm with Deafness 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
midd:
Inheritance: Mitochondrial inheritance; Age of onset: All ages; Age of death: any age


External Ids:

Orphanet51 225
ICD10 via Orphanet28 E13.8
MESH via Orphanet37 C536246
UMLS via Orphanet66 C0342289

Summaries for Maternally Inherited Diabetes and Deafness

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NIH Rare Diseases:45 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 autonomic nervous system disease 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 Cardiac muscle contraction. Affiliated tissues include heart, cerebellum and eye.

Genetics Home Reference:23 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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Diseases related to Maternally Inherited Diabetes and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1autonomic nervous system disease30.1GAD1, INS
2retinitis10.5
3ptosis10.4
4diabetes and hearing loss10.4
5cerebellar ataxia10.3
6focal segmental glomerulosclerosis10.3
7basal ganglia calcification10.3
8glomerulosclerosis10.3
9hyperglycemia10.3
10intestinal pseudo-obstruction10.3
11kidney disease10.3
12cardiomyopathy10.3
13ataxia10.3
14chronobiology disease10.1GAD1, INS
15clear cell squamous cell skin carcinoma10.1GAD1, INS
16indeterminate leprosy10.1MT-CO1, MT-TL1
17mononeuritis of upper limb10.1GAD1, INS
18ceroid lipofuscinosis, neuronal, 13, kufs type10.1CHKB, MT-CO1
19secondary syringomyelia10.0MT-CO1, MT-CO3
20mertk-related retinitis pigmentosa10.0MT-TK, MT-TL1
21migraine, familial typical 210.0MT-CO3, MT-TE
22matsoukas liarikos giannika syndrome10.0MT-TK, MT-TL1
23intermittent claudication10.0INS, PTPRN
24deafness - encephaloneuropathy - obesity - valvulopathy10.0MT-CO1, MT-CO3
25glucocorticoid deficiency 410.0
26glucocorticoid therapy, response to10.0
27glucocorticoid deficiency 310.0
28multiple myeloma10.0
29immunoglobulin a deficiency 210.0
30glucocorticoid deficiency 210.0
31peripheral vascular disease10.0
32hematologic cancer10.0
33gamma chain deficiency10.0
34monoclonal paraproteinemia10.0
35spastic diplegia10.0
36central nervous system hematologic cancer10.0
37amyloidosis10.0
38autonomic nervous system neoplasm10.0
39blood protein disease10.0
40central nervous system cancer10.0
41heavy chain disease10.0
42hypersensitivity reaction type iv disease10.0
43myeloma10.0
44nervous system cancer10.0
45nutritional deficiency disease10.0
46peripheral nervous system disease10.0
47peripheral nervous system neoplasm10.0
48plasma cell neoplasm10.0
49plasma protein metabolism disease10.0
50vascular cancer10.0

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:

 51 (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 35)
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
23 ptosis rare (5%) HP:0000508
24 sensorineural hearing impairment HP:0000407
25 external ophthalmoplegia HP:0000544
26 retinal degeneration HP:0000546
27 constriction of peripheral visual field HP:0001133
28 pigmentary retinal degeneration HP:0001146
29 seizures HP:0001250
30 dysarthria HP:0001260
31 mitochondrial inheritance HP:0001427
32 unsteady gait HP:0002317
33 vertigo HP:0002321
34 hyperglycemia HP:0003074
35 type ii diabetes mellitus HP:0005978

Drugs & Therapeutics for Maternally Inherited Diabetes and Deafness

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554

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 Transmitted24

Anatomical Context for Maternally Inherited Diabetes and Deafness

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

33
Heart, Cerebellum, Eye, Kidney, Brain, Skeletal muscle

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 28)
idTitleAuthorsYear
1
Convulsion and cerebellar ataxia associated with maternally inherited diabetes and deafness: a case report. (26273464)
2015
2
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
3
A review of maternally inherited diabetes and deafness. (24389221)
2014
4
Maternally inherited diabetes and deafness (MIDD): diagnosis and management. (24746802)
2014
5
Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy. (23314478)
2013
6
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
7
Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: clinical pathological analysis. (24152508)
2013
8
Visual function and risk genotypes in maternally inherited diabetes and deafness. (24093199)
2013
9
Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy. (22869689)
2012
10
Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient. (22049499)
2012
11
A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness. (21994425)
2011
12
Ptosis as an associated finding in maternally inherited diabetes and deafness. (21067488)
2010
13
Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA. (19864902)
2010
14
Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness. (21475792)
2009
15
The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. (19470619)
2009
16
Phosphorus-31 magnetic resonance spectroscopy of skeletal muscle in maternally inherited diabetes and deafness A3243G mitochondrial mutation carriers. (19097109)
2009
17
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
18
Brain anomalies in maternally inherited diabetes and deafness syndrome. (19536585)
2009
19
Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10. (19169492)
2008
20
Role of mitochondrial variation in maternally inherited diabetes and deafness syndrome. (18950542)
2008
21
Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. (19169474)
2008
22
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
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
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
25
Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). (15223991)
2004
26
Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA. (11240563)
2001
27
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
28
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:

5
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
9.4MT-TE, MT-TK, MT-TL1
29.0MT-CO1, MT-CO3
3
Show member pathways
8.5INS, MT-CO1, MT-CO3

GO Terms for genes affiliated with Maternally Inherited Diabetes and Deafness

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

idNameGO IDScoreTop Affiliating Genes
1respiratory chain complex IVGO:00452779.0MT-CO1, MT-CO3

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

idNameGO IDScoreTop Affiliating Genes
1hydrogen ion transmembrane transportGO:19026009.0MT-CO1, MT-CO3

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

idNameGO IDScoreTop Affiliating Genes
1cytochrome-c oxidase activityGO:00041299.0MT-CO1, MT-CO3

Sources for Maternally Inherited Diabetes and Deafness

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet