MCID: DBT090
MIFTS: 35

Diabetes and Deafness, Maternally Inherited

Categories: Rare diseases, Eye diseases, Ear diseases, Metabolic diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Diabetes and Deafness, Maternally Inherited

MalaCards integrated aliases for Diabetes and Deafness, Maternally Inherited:

Name: Diabetes and Deafness, Maternally Inherited 54 50
Midd 50 25 56
Maternally Inherited Diabetes and Deafness 50 25
Noninsulin-Dependent Diabetes Mellitus with Deafness 25
Diabetes-Deafness Syndrome, Maternally Transmitted 50
Maternally Transmitted Diabetes-Deafness Syndrome 25
Diabetes-Deafness Syndrome Maternally Transmitted 29
Mitochondrial Inherited Diabetes and Deafness 25
Maternally-Inherited Diabetes and Deafness 56
Diabetes Mellitus, Type Ii, with Deafness 25
Diabetes Mellitus Type Ii with Deafness 50
Ballinger Wallace Syndrome 50
Ballinger-Wallace Syndrome 25
Mitochondrial Diabetes 56
Niddm with Deafness 25

Characteristics:

Orphanet epidemiological data:

56
maternally-inherited diabetes and deafness
Inheritance: Mitochondrial inheritance; Age of onset: All ages; Age of death: any age;

OMIM:

54
Miscellaneous:
variable features
onset of deafness and diabetes in adulthood

Inheritance:
mitochondrial


HPO:

32
diabetes and deafness, maternally inherited:
Inheritance mitochondrial inheritance


Classifications:



Summaries for Diabetes and Deafness, Maternally Inherited

NIH Rare Diseases : 50 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 cellnucleus, 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 : Diabetes and Deafness, Maternally Inherited, also known as midd, is related to diabetes and hearing loss and non-amyloid monoclonal immunoglobulin deposition disease, and has symptoms including visual impairment, ataxia and proteinuria. An important gene associated with Diabetes and Deafness, Maternally Inherited is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include heart, eye and cerebellum.

Genetics Home Reference : 25 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.

OMIM : 54
Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms (Ballinger et al., 1992; Reardon et al., 1992; Guillausseau et al., 2001). The association of diabetes and deafness is observed with Wolfram syndrome (see 222300), Rogers syndrome (249270), and Herrmann syndrome (172500), but all 3 of these disorders have other clinical manifestations. (520000)

Related Diseases for Diabetes and Deafness, Maternally Inherited

Graphical network of the top 20 diseases related to Diabetes and Deafness, Maternally Inherited:



Diseases related to Diabetes and Deafness, Maternally Inherited

Symptoms & Phenotypes for Diabetes and Deafness, Maternally Inherited

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dysarthria
seizures
unsteady gait
dizziness

Head And Neck- Eyes:
ptosis (less common)
external ophthalmoplegia
normal visual acuity
pigmentary retinal degeneration
macular pattern dystrophy
more
Cardiovascular- Heart:
cardiomyopathy (in some)

Laboratory- Abnormalities:
hyperglycemia

Head And Neck- Ears:
deafness, neurosensory
impaired vestibular function

Endocrine Features:
diabetes mellitus (niddm)


Clinical features from OMIM:

520000

Human phenotypes related to Diabetes and Deafness, Maternally Inherited:

56 32 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 ataxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 proteinuria 56 32 frequent (33%) Frequent (79-30%) HP:0000093
4 hypertrophic cardiomyopathy 56 32 frequent (33%) Frequent (79-30%) HP:0001639
5 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
6 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
7 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
8 constipation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002019
9 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
10 myalgia 56 32 frequent (33%) Frequent (79-30%) HP:0003326
11 arrhythmia 56 32 frequent (33%) Frequent (79-30%) HP:0011675
12 malabsorption 56 32 hallmark (90%) Very frequent (99-80%) HP:0002024
13 congestive heart failure 56 32 frequent (33%) Frequent (79-30%) HP:0001635
14 macular dystrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0007754
15 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
16 retinopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000488
17 external ophthalmoplegia 56 32 frequent (33%) Frequent (79-30%) HP:0000544
18 type ii diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0005978
19 aplasia/hypoplasia of the cerebellum 56 32 frequent (33%) Frequent (79-30%) HP:0007360
20 glomerulopathy 56 32 frequent (33%) Frequent (79-30%) HP:0100820
21 abnormality of lipid metabolism 56 32 frequent (33%) Frequent (79-30%) HP:0003119
22 chorioretinal abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0000532
23 dysarthria 32 HP:0001260
24 seizures 32 HP:0001250
25 ptosis 32 occasional (7.5%) HP:0000508
26 unsteady gait 32 HP:0002317
27 hyperglycemia 32 HP:0003074
28 retinal degeneration 32 HP:0000546
29 cardiomyopathy 32 occasional (7.5%) HP:0001638
30 vertigo 32 HP:0002321
31 pigmentary retinal degeneration 32 HP:0001146
32 constriction of peripheral visual field 32 HP:0001133

Drugs & Therapeutics for Diabetes and Deafness, Maternally Inherited

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The KHENERGY Study Recruiting NCT02909400 Phase 2 KH176;placebo
2 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554

Search NIH Clinical Center for Diabetes and Deafness, Maternally Inherited

Genetic Tests for Diabetes and Deafness, Maternally Inherited

Genetic tests related to Diabetes and Deafness, Maternally Inherited:

id Genetic test Affiliating Genes
1 Diabetes-Deafness Syndrome Maternally Transmitted 29

Anatomical Context for Diabetes and Deafness, Maternally Inherited

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

39
Heart, Eye, Cerebellum

Publications for Diabetes and Deafness, Maternally Inherited

Variations for Diabetes and Deafness, Maternally Inherited

ClinVar genetic disease variations for Diabetes and Deafness, Maternally Inherited:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-TK m.8296A> G single nucleotide variant Pathogenic rs118192102 GRCh37 Chromosome MT, 8296: 8296
2 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
3 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh37 Chromosome MT, 14709: 14709
4 MT-TE NC_012920.1: m.14692A> G single nucleotide variant Pathogenic rs879192165 GRCh37 Chromosome MT, 14692: 14692

Expression for Diabetes and Deafness, Maternally Inherited

Search GEO for disease gene expression data for Diabetes and Deafness, Maternally Inherited.

Pathways for Diabetes and Deafness, Maternally Inherited

Pathways related to Diabetes and Deafness, Maternally Inherited according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 MT-TE MT-TK MT-TL1

GO Terms for Diabetes and Deafness, Maternally Inherited

Sources for Diabetes and Deafness, Maternally Inherited

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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