MIDD
MCID: MTR046
MIFTS: 50

Maternally Inherited Diabetes and Deafness (MIDD) malady

Rare diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Maternally Inherited Diabetes and Deafness

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Maternally Inherited Diabetes and Deafness, also known as MIDD, is related to hyperglycemia and retinitis, and has symptoms including cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia, muscle weakness/flaccidity and myalgia/muscular pain. 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.

Wikipedia:65 Diabetes mellitus and deafness (DAD) or Maternally inherited diabetes and deafness (MIDD) is a subtype... more...

Description from OMIM:47 520000

Aliases & Classifications for Maternally Inherited Diabetes and Deafness

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43NIH Rare Diseases, 21Genetics Home Reference, 22GTR, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
midd:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

maternally inherited diabetes and deafness 43 21
midd 43 21 49
diabetes-deafness syndrome, maternally transmitted 43 22
maternally-inherited diabetes and deafness 49 47
noninsulin-dependent diabetes mellitus with deafness 21
maternally transmitted diabetes-deafness syndrome 21
mitochondrial inherited diabetes and deafness 21
diabetes and deafness, maternally inherited 43
diabetes mellitus, type ii, with deafness 21
diabetes mellitus type ii with deafness 43
ballinger wallace syndrome 43
ballinger-wallace syndrome 21
mitochondrial diabetes 49
niddm with deafness 21


External Ids:

OMIM47 520000
MESH via Orphanet36 C536246
ICD10 via Orphanet26 E13, H90.3
SNOMED-CT via Orphanet59 237619009
UMLS via Orphanet63 C0342289

Related Diseases for Maternally Inherited Diabetes and Deafness

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

520000

Clinical features from OMIM:

520000

Symptoms:

49 (show all 23)
  • 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
  • proteinuria
  • renal glomerular defect/glomerulopathy
  • 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
  • retinal/chorioretinal dysplasia/dystrophy

Drugs & Therapeutics for Maternally Inherited Diabetes and Deafness

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42NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Maternally Inherited Diabetes and Deafness:

33
Heart, Cerebellum, Eye

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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52PubMed
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Articles related to Maternally Inherited Diabetes and Deafness:

idTitleAuthorsYear
1
Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy. (23314478)
2013
2
Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: clinical pathological analysis. (24152508)
2013
3
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
4
Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10. (19169492)
2008
5
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
6
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
7
Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). (15223991)
2004
8
Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA. (11240563)
2001
9
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
10
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Maternally Inherited Diabetes and Deafness:

1
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Maternally Inherited Diabetes and Deafness

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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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN
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Pathways related to Maternally Inherited Diabetes and Deafness according to GeneCards/GeneDecks:

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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Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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Compounds related to Maternally Inherited Diabetes and Deafness according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
12-deoxyglucose45 1111.1GAD1
2levodopa45 1110.5CHKB, GAD1
3beta-hydroxybutyrate459.5INS, CHKB
4gemfibrozil29 45 1111.5INS, CHKB
5clozapine45 29 51 1112.4CHKB, GAD1
6rosuvastatin45 51 29 1112.4INS, CHKB
7bezafibrate45 29 1111.4CHKB, INS
8ornithine45 2410.4CHKB, GAD1
9olanzapine45 51 29 24 1113.4INS, CHKB
10uric acid45 2410.4CHKB, INS
11carnitine459.3CHKB, INS
12prednisolone45 29 1111.3GAD1, CHKB
13streptozotocin459.3INS, GAD1
14thyroxine45 2410.1INS, CHKB
15cyclosporin a45 29 6111.1CHKB, PTPRN, GAD1
16choline45 24 1111.0CHKB, GAD1
17c-peptide458.9INS, PTPRN, GAD1
18creatinine458.8GAD1, INS, CHKB
19cholesterol45 29 24 1111.7GAD1, CHKB, INS
20alanine458.4CHKB, INS, GAD1
21arginine458.3GAD1, INS, PTPRN, CHKB
22glutamate458.3CHKB, INS, GAD1, PTPRN
23glucose458.3INS, GAD1, CHKB, PTPRN

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Maternally Inherited Diabetes and Deafness

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet