MIDD
MCID: MTR046
MIFTS: 45

Maternally Inherited Diabetes and Deafness (MIDD) malady

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

Summaries for Maternally Inherited Diabetes and Deafness

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 is tRNA Aminoacylation. The compounds beta-hydroxybutyrate and gemfibrozil 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:63 Diabetes mellitus and deafness (DAD) or Maternally inherited diabetes and deafness (MIDD) is a subtype... more...

Description from OMIM:46 520000

Aliases & Classifications for Maternally Inherited Diabetes and Deafness

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42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
midd:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

maternally inherited diabetes and deafness 42 21
midd 42 21 48
diabetes-deafness syndrome, maternally transmitted 42 22
maternally-inherited diabetes and deafness 48 46
noninsulin-dependent diabetes mellitus with deafness 21
maternally transmitted diabetes-deafness syndrome 21
mitochondrial inherited diabetes and deafness 21
diabetes and deafness, maternally inherited 42
diabetes mellitus, type ii, with deafness 21
diabetes mellitus type ii with deafness 42
ballinger wallace syndrome 42
ballinger-wallace syndrome 21
mitochondrial diabetes 48
niddm with deafness 21


External Ids:

OMIM46 520000
MESH via Orphanet35 C536246
ICD10 via Orphanet26 E13, H90.3
SNOMED-CT via Orphanet57 237619009
UMLS via Orphanet61 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

Clinical Features for Maternally Inherited Diabetes and Deafness

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46OMIM, 48Orphanet
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Clinical features from OMIM:

520000

Clinical synopsis from OMIM:

520000

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Maternally Inherited Diabetes and Deafness:

32
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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Genetic Variations for Maternally Inherited Diabetes and Deafness

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Expression for genes affiliated with Maternally Inherited Diabetes and Deafness

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

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Pathways for genes affiliated with Maternally Inherited Diabetes and Deafness

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53Reactome, 29KEGG
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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
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9.2MT-TK, MT-TL1, MT-TE

Compounds for genes affiliated with Maternally Inherited Diabetes and Deafness

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience
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Compounds related to Maternally Inherited Diabetes and Deafness according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1beta-hydroxybutyrate449.4INS, CHKB
2gemfibrozil44 28 1111.4INS, CHKB
3rosuvastatin44 49 28 1112.4CHKB, INS
4bezafibrate44 28 1111.4CHKB, INS
5clozapine44 28 49 1112.3CHKB, GAD1
6olanzapine49 44 28 11 2413.3INS, CHKB
7streptozotocin449.2INS, GAD1
82-deoxyglucose44 1110.1INS, GAD1
9uric acid44 2410.1INS, CHKB
10carnitine449.0INS, CHKB
11levodopa44 1110.0CHKB, GAD1
12cyclosporin a44 28 5911.0GAD1, CHKB, PTPRN
13c-peptide448.8PTPRN, INS, GAD1
14creatinine448.6GAD1, CHKB, INS
15arginine448.3GAD1, CHKB, INS, PTPRN
16glutamate448.3GAD1, CHKB, INS, PTPRN
17glucose448.2PTPRN, INS, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet