MIDD
MCID: MTR046
MIFTS: 50

Maternally Inherited Diabetes and Deafness (MIDD) malady

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

Summaries for Maternally Inherited Diabetes and Deafness

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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.

Wikipedia:66 Diabetes mellitus and deafness (DAD) or Maternally inherited diabetes and deafness (MIDD) is a subtype... more...

Description from OMIM:48 520000

Aliases & Classifications for Maternally Inherited Diabetes and Deafness

About this section
Sources:
44NIH Rare Diseases, 22Genetics Home Reference, 23GTR, 50Orphanet, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
midd:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

maternally inherited diabetes and deafness 44 22
midd 44 22 50
diabetes-deafness syndrome, maternally transmitted 44 23
maternally-inherited diabetes and deafness 50 48
noninsulin-dependent diabetes mellitus with deafness 22
maternally transmitted diabetes-deafness syndrome 22
mitochondrial inherited diabetes and deafness 22
diabetes and deafness, maternally inherited 44
diabetes mellitus, type ii, with deafness 22
diabetes mellitus type ii with deafness 44
ballinger wallace syndrome 44
ballinger-wallace syndrome 22
mitochondrial diabetes 50
niddm with deafness 22


External Ids:

OMIM48 520000
MESH via Orphanet37 C536246
ICD10 via Orphanet27 E13, H90.3
SNOMED-CT via Orphanet60 237619009
UMLS via Orphanet64 C0342289

Related Diseases for Maternally Inherited Diabetes and Deafness

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

520000

Clinical features from OMIM:

520000

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Maternally Inherited Diabetes and Deafness

Drug clinical trials:

Search ClinicalTrials for Maternally Inherited Diabetes and Deafness

Search NIH Clinical Center for Maternally Inherited Diabetes and Deafness

Search CenterWatch for Maternally Inherited Diabetes and Deafness

Genetic Tests for Maternally Inherited Diabetes and Deafness

About this section
Sources:
23GTR
See all sources

Genetic tests related to Maternally Inherited Diabetes and Deafness:

id Genetic test Affiliating Genes
1 Diabetes-Deafness Syndrome Maternally Transmitted23

Anatomical Context for Maternally Inherited Diabetes and Deafness

About this section
Sources:
34MalaCards
See all sources

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

34
Heart, Cerebellum, Eye

Animal Models for Maternally Inherited Diabetes and Deafness or affiliated genes

About this section

Publications for Maternally Inherited Diabetes and Deafness

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN
See all sources

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

About this section
Sources:
46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 25HMDB, 62Tocris Bioscience
See all sources

Compounds related to Maternally Inherited Diabetes and Deafness according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
12-deoxyglucose46 1211.1GAD1
2levodopa46 1210.5CHKB, GAD1
3beta-hydroxybutyrate469.5INS, CHKB
4gemfibrozil30 46 1211.5INS, CHKB
5clozapine46 30 52 1212.4CHKB, GAD1
6rosuvastatin46 52 30 1212.4INS, CHKB
7bezafibrate46 30 1211.4CHKB, INS
8ornithine46 2510.4CHKB, GAD1
9olanzapine46 52 30 25 1213.4INS, CHKB
10uric acid46 2510.4CHKB, INS
11carnitine469.3CHKB, INS
12prednisolone46 30 1211.3GAD1, CHKB
13streptozotocin469.3INS, GAD1
14thyroxine46 2510.1INS, CHKB
15cyclosporin a46 30 6211.1CHKB, PTPRN, GAD1
16choline46 25 1211.0CHKB, GAD1
17c-peptide468.9INS, PTPRN, GAD1
18creatinine468.8GAD1, INS, CHKB
19cholesterol46 30 25 1211.7GAD1, CHKB, INS
20alanine468.4CHKB, INS, GAD1
21arginine468.3GAD1, INS, PTPRN, CHKB
22glutamate468.3CHKB, INS, GAD1, PTPRN
23glucose468.3INS, GAD1, CHKB, PTPRN

GO Terms for genes affiliated with Maternally Inherited Diabetes and Deafness

About this section

Products for genes affiliated with Maternally Inherited Diabetes and Deafness

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Maternally Inherited Diabetes and Deafness

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet