MIDD
MCID: MTR046
MIFTS: 59

Maternally Inherited Diabetes and Deafness (MIDD) malady

Rare diseases, Eye diseases, Ear diseases, Metabolic diseases, Endocrine diseases, Fetal diseases categories
Download this MalaCard

Summaries for Maternally Inherited Diabetes and Deafness

About this section


Fully expand this MalaCard
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 based summary: Maternally Inherited Diabetes and Deafness, also known as MIDD, is related to hyperglycemia and retinitis, and has symptoms including retinal/chorioretinal dysplasia/dystrophy, macular dystrophy/absence/hypoplasia of the macula and sensorineural deafness/hearing loss. 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 drugs acetohexamide and chlorpropamide and the compounds 2-deoxyglucose and levodopa have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and cerebellum.

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:46 520000

Aliases & Classifications for Maternally Inherited Diabetes and Deafness

About this section
Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Maternally Inherited Diabetes and Deafness, Aliases & Descriptions:

Name: 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, Non-Insulin-Dependent 62
Diabetes Mellitus Type Ii with Deafness 42
Ballinger Wallace Syndrome 42
Ballinger-Wallace Syndrome 21
Mitochondrial Diabetes 48
Niddm with Deafness 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 520000
MESH via Orphanet35 C536246
ICD10 via Orphanet26 E13.8
UMLS via Orphanet63 C0342289

Related Diseases for Maternally Inherited Diabetes and Deafness

About this section

Diseases related to Maternally Inherited Diabetes and Deafness via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1hyperglycemia30.3GAD1, PTPRN, INS
2retinitis10.5
3macular dystrophy10.4
4stiff-person syndrome10.4GAD1
5lactic acidosis10.4INS
6focal segmental glomerulosclerosis10.3
7glomerulosclerosis10.3
8intestinal pseudo-obstruction10.3
9kidney disease10.3
10chorea10.3
11autoimmune thyroiditis10.2CHKB, GAD1
12tetanus10.1PTPRN, GAD1
13prediabetes syndrome10.1INS, GAD1
14diabetic ketoacidosis10.1GAD1, INS
15diabetic neuropathy10.1INS, GAD1
16graves' disease10.1PTPRN, GAD1
17autonomic neuropathy10.1INS, GAD1
18mitochondrial dna-associated leigh syndrome and narp10.1MT-TL1, MT-TK
19glucose intolerance10.1INS, GAD1
20mitochondrial disorders10.1MT-TK, MT-TL1
21hypothyroidism10.1INS, CHKB
22diabetic retinopathy10.1GAD1, INS
23hypoaldosteronism10.0
24hyporeninemic hypoaldosteronism10.0
25non-amyloid monoclonal immunoglobulin deposition disease10.0
26hypoglycemia10.0INS, GAD1
27metabolic syndrome x10.0CHKB, INS
28west syndrome10.0
29kearns-sayre syndrome10.0
30gestational diabetes10.0INS, PTPRN, GAD1
31coronary artery anomaly10.0CHKB, INS
32insulinoma9.9INS, PTPRN, GAD1
33type 1 diabetes mellitus9.9INS, PTPRN, GAD1
34type 2 diabetes mellitus9.9PTPRN, GAD1, INS
35diabetes mellitus9.9GAD1, PTPRN, INS
36hypersensitivity reaction type ii disease9.9GAD1, PTPRN, INS
37schizophrenia9.9INS, GAD1, CHKB
38cholera9.8INS, GAD1
39alzheimer's disease9.8GAD1, CHKB, INS

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

Symptoms by clinical synopsis from OMIM:

520000

Clinical features from OMIM:

520000

Symptoms:

48 (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 36)
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 cardiomyopathy rare (5%) HP:0001638
25 sensorineural hearing impairment HP:0000407
26 external ophthalmoplegia HP:0000544
27 retinal degeneration HP:0000546
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
36 concentric narrowing of visual fields HP:0007981

Drugs & Therapeutics for Maternally Inherited Diabetes and Deafness

About this section

Genetic Tests for Maternally Inherited Diabetes and Deafness

About this section

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

About this section

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

32
Heart, Eye, Cerebellum, Brain, Skeletal muscle, Kidney

Animal Models for Maternally Inherited Diabetes and Deafness or affiliated genes

About this section

Publications for Maternally Inherited Diabetes and Deafness

About this section

Articles related to Maternally Inherited Diabetes and Deafness:

(show all 26)
idTitleAuthorsYear
1
A review of maternally inherited diabetes and deafness. (24389221)
2014
2
Maternally inherited diabetes and deafness (MIDD): diagnosis and management. (24746802)
2014
3
Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy. (23314478)
2013
4
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
5
Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: clinical pathological analysis. (24152508)
2013
6
Visual function and risk genotypes in maternally inherited diabetes and deafness. (24093199)
2013
7
Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy. (22869689)
2012
8
Diagnosis of maternally inherited diabetes and deafness (mitochondrial A3243G mutation) based on funduscopic appearance in an asymptomatic patient. (22049499)
2012
9
A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness. (21994425)
2011
10
Ptosis as an associated finding in maternally inherited diabetes and deafness. (21067488)
2010
11
Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA. (19864902)
2010
12
Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness. (21475792)
2009
13
The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. (19470619)
2009
14
Phosphorus-31 magnetic resonance spectroscopy of skeletal muscle in maternally inherited diabetes and deafness A3243G mitochondrial mutation carriers. (19097109)
2009
15
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
16
Brain anomalies in maternally inherited diabetes and deafness syndrome. (19536585)
2009
17
Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10. (19169492)
2008
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

About this section

Clinvar genetic disease variations for Maternally Inherited Diabetes and Deafness:

6
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
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

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

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

(show all 23)
idCompoundScoreTop Affiliating Genes
12-deoxyglucose44 1111.1GAD1
2levodopa44 1110.5GAD1, CHKB
3beta-hydroxybutyrate449.5CHKB, INS
4gemfibrozil28 44 1111.5CHKB, INS
5clozapine44 28 50 1112.4CHKB, GAD1
6rosuvastatin44 50 28 1112.4CHKB, INS
7bezafibrate44 28 1111.4INS, CHKB
8ornithine44 2410.4GAD1, CHKB
9olanzapine44 50 28 24 1113.4CHKB, INS
10uric acid44 2410.4CHKB, INS
11carnitine449.3INS, CHKB
12prednisolone44 28 1111.3GAD1, CHKB
13streptozotocin449.3GAD1, INS
14thyroxine44 2410.1CHKB, INS
15cyclosporin a44 28 6111.1GAD1, CHKB, PTPRN
16choline44 24 1111.0GAD1, CHKB
17c-peptide448.9GAD1, PTPRN, INS
18creatinine448.8INS, CHKB, GAD1
19cholesterol44 28 24 1111.7GAD1, CHKB, INS
20alanine448.4INS, CHKB, GAD1
21arginine448.3INS, PTPRN, CHKB, GAD1
22glutamate448.3GAD1, CHKB, PTPRN, INS
23glucose448.3INS, PTPRN, CHKB, GAD1

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

Sources for Maternally Inherited Diabetes and Deafness

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet