MIDD
MCID: DBT090
MIFTS: 44

Diabetes and Deafness, Maternally Inherited (MIDD)

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

Aliases & Classifications for Diabetes and Deafness, Maternally Inherited

MalaCards integrated aliases for Diabetes and Deafness, Maternally Inherited:

Name: Diabetes and Deafness, Maternally Inherited 56 52
Midd 56 52 25 58
Maternally Inherited Diabetes and Deafness 74 52 25
Noninsulin-Dependent Diabetes Mellitus with Deafness 56 25
Diabetes-Deafness Syndrome, Maternally Transmitted 56 52
Diabetes-Deafness Syndrome Maternally Transmitted 29 6
Diabetes Mellitus, Type Ii, with Deafness 56 25
Ballinger-Wallace Syndrome 56 25
Niddm with Deafness 56 25
Maternally Transmitted Diabetes-Deafness Syndrome 25
Maternally-Inherited Diabetes and Hearing Loss 58
Mitochondrial Inherited Diabetes and Deafness 25
Maternally-Inherited Diabetes and Deafness 58
Diabetes Mellitus Type Ii with Deafness 52
Ballinger Wallace Syndrome 52
Mitochondrial Diabetes 58

Characteristics:

Orphanet epidemiological data:

58
maternally-inherited diabetes and deafness
Inheritance: Mitochondrial inheritance; Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
mitochondrial

Miscellaneous:
variable features
onset of deafness and diabetes in adulthood


HPO:

31
diabetes and deafness, maternally inherited:
Inheritance mitochondrial inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Diabetes and Deafness, Maternally Inherited

NIH Rare Diseases : 52 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.

MalaCards based summary : Diabetes and Deafness, Maternally Inherited, also known as midd, is related to mitochondrial encephalomyopathy and lactic acidosis. An important gene associated with Diabetes and Deafness, Maternally Inherited is MT-TE (Mitochondrially Encoded TRNA-Glu (GAA/G)), and among its related pathways/superpathways is tRNA Aminoacylation. The drugs Latanoprost and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and eye, and related phenotypes are type ii diabetes mellitus and malabsorption

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. Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina). This disorder does not usually cause vision problems in people with MIDD. Individuals with MIDD also may experience muscle cramps or weakness, particularly during exercise; heart problems; kidney disease; and constipation. Individuals with MIDD are often shorter than their peers.

OMIM : 56 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)

Wikipedia : 74 Diabetes and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) or mitochondrial... more...

Related Diseases for Diabetes and Deafness, Maternally Inherited

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

(showing 96, show less)
# Related Disease Score Top Affiliating Genes
1 mitochondrial encephalomyopathy 29.6 MT-TL1 MT-TK
2 lactic acidosis 29.4 MT-TL1 MT-TK MT-TE
3 chronic progressive external ophthalmoplegia 29.4 MT-TL1 MT-TK
4 mitochondrial disorders 29.2 MT-TL1 MT-TK MT-TE
5 kearns-sayre syndrome 29.2 MT-TL1 MT-TK
6 mitochondrial metabolism disease 29.1 MT-TL1 MT-TK MT-TE
7 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.1 MT-TL1 MT-TK MT-TE
8 mitochondrial myopathy 29.1 MT-TL1 MT-TK MT-TE
9 myopathy 29.1 MT-TL1 MT-TK MT-TE
10 non-amyloid monoclonal immunoglobulin deposition disease 11.3
11 diabetes mellitus, noninsulin-dependent 10.3
12 hyperglycemia 10.3
13 macular degeneration, age-related, 2 10.2
14 mitochondrial complex iv deficiency 10.2
15 3-methylglutaconic aciduria, type i 10.2
16 cyclic vomiting syndrome 10.2
17 ptosis 10.2
18 microvascular complications of diabetes 5 10.2
19 basal ganglia calcification 10.2
20 intestinal pseudo-obstruction 10.2
21 sensorineural hearing loss 10.2
22 constipation 10.2
23 diabetes mellitus 10.2
24 dowling-degos disease 1 10.1
25 diabetes mellitus, type i 10.1
26 yemenite deaf-blind hypopigmentation syndrome 10.1
27 branchiootic syndrome 1 10.1
28 macular degeneration, age-related, 1 10.1
29 mitochondrial myopathy with diabetes 10.0
30 ataxia and polyneuropathy, adult-onset 10.0
31 maturity-onset diabetes of the young, type 3 10.0
32 gallbladder disease 1 10.0
33 maturity-onset diabetes of the young 10.0
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
35 chorea, childhood-onset, with psychomotor retardation 10.0
36 common cold 10.0
37 choreatic disease 10.0
38 kidney disease 10.0
39 end stage renal disease 10.0
40 ileus 10.0
41 fundus dystrophy 10.0
42 amyloidosis 10.0
43 hypoaldosteronism 10.0
44 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.0
45 monogenic diabetes 10.0
46 inherited retinal disorder 10.0
47 premature aging 10.0
48 atrial standstill 1 10.0
49 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.0
50 osteogenic sarcoma 10.0
51 pseudoxanthoma elasticum 10.0
52 acute insulin response 10.0
53 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 10.0
54 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 10.0
55 intraocular pressure quantitative trait locus 10.0
56 diabetes mellitus, ketosis-prone 10.0
57 microvascular complications of diabetes 3 10.0
58 microvascular complications of diabetes 4 10.0
59 microvascular complications of diabetes 6 10.0
60 microvascular complications of diabetes 7 10.0
61 hemiplegia 10.0
62 cortical blindness 10.0
63 focal segmental glomerulosclerosis 10.0
64 retinal vein occlusion 10.0
65 hypogonadism 10.0
66 iga glomerulonephritis 10.0
67 macular retinal edema 10.0
68 retinal disease 10.0
69 congestive heart failure 10.0
70 night blindness 10.0
71 47,xyy 10.0
72 pattern dystrophy 10.0
73 glucose intolerance 9.9
74 lipomatosis, multiple 9.8
75 pleomorphic lipoma 9.8
76 mononeuropathy 9.8
77 hypertrophic cardiomyopathy 9.8
78 maturity-onset diabetes of the young, type 2 9.6
79 celiac disease 1 9.6
80 retinitis pigmentosa-deafness syndrome 9.6
81 west syndrome 9.6
82 metabolic acidosis 9.6
83 heart disease 9.6
84 hyperinsulinism 9.6
85 sensory peripheral neuropathy 9.6
86 neuromuscular disease 9.6
87 b-cell lymphoma 9.6
88 neuropathy 9.6
89 hypoglycemia 9.6
90 pearson marrow-pancreas syndrome 9.6 MT-TL1 MT-TK
91 neonatal period electroclinical syndrome 9.6 MT-TL1 MT-TK
92 myoclonic epilepsy associated with ragged-red fibers 9.6 MT-TL1 MT-TK
93 early myoclonic encephalopathy 9.5 MT-TL1 MT-TK
94 migraine with or without aura 1 9.4 MT-TL1 MT-TK
95 leigh syndrome 9.2 MT-TL1 MT-TK
96 leber optic atrophy 9.2 MT-TL1 MT-TK MT-TE

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

Human phenotypes related to Diabetes and Deafness, Maternally Inherited:

58 31 (showing 35, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
2 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
5 macular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007754
6 abnormal chorioretinal morphology 31 hallmark (90%) HP:0000532
7 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
8 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
9 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
10 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
11 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
12 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
13 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
14 glomerulopathy 58 31 frequent (33%) Frequent (79-30%) HP:0100820
15 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
16 external ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000544
17 abnormal circulating lipid concentration 31 frequent (33%) HP:0003119
18 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
19 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
20 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
21 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
22 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
23 ptosis 31 occasional (7.5%) HP:0000508
24 cardiomyopathy 31 occasional (7.5%) HP:0001638
25 vertigo 31 HP:0002321
26 abnormality of lipid metabolism 58 Frequent (79-30%)
27 dysarthria 31 HP:0001260
28 chorioretinal abnormality 58 Very frequent (99-80%)
29 pigmentary retinopathy 31 HP:0000580
30 retinal degeneration 31 HP:0000546
31 constriction of peripheral visual field 31 HP:0001133
32 unsteady gait 31 HP:0002317
33 vestibular dysfunction 31 HP:0001751
34 hyperglycemia 31 HP:0003074
35 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
dysarthria
unsteady gait
dizziness

Laboratory Abnormalities:
hyperglycemia

Cardiovascular Heart:
cardiomyopathy (in some)

Head And Neck Eyes:
external ophthalmoplegia
concentric narrowing of visual fields
pigmentary retinal degeneration
macular pattern dystrophy
normal visual acuity
more
Head And Neck Ears:
deafness, neurosensory
impaired vestibular function

Endocrine Features:
diabetes mellitus (niddm)

Clinical features from OMIM:

520000

Drugs & Therapeutics for Diabetes and Deafness, Maternally Inherited

Drugs for Diabetes and Deafness, Maternally Inherited (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 24, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Latanoprost Approved, Investigational 130209-82-4 5311221 5282380
2
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
3
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
4
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
5
Melphalan Approved 148-82-3 460612 4053
6
Bortezomib Approved, Investigational 179324-69-7 387447 93860
7 Antihypertensive Agents
8 Pharmaceutical Solutions
9 Ophthalmic Solutions
10 Antibodies
11 Gastrointestinal Agents
12 Hormones
13
protease inhibitors
14 Immunoglobulins, Intravenous
15 Antineoplastic Agents, Hormonal
16 Antiemetics
17 Hormone Antagonists
18 HIV Protease Inhibitors
19 Myeloma Proteins
20 glucocorticoids
21 BB 1101
22 Immunoglobulins
23 Paraproteins
24 Anti-Inflammatory Agents

Interventional clinical trials:

(showing 6, show less)
# Name Status NCT ID Phase Drugs
1 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
2 A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation. Recruiting NCT04165239 Phase 2 KH176;KH176;Placebo
3 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
4 An Evaluation of the Usability and Patient Tolerability for Microtherapeutic Dosing of Commercially Available Ocular Medication Via the Eyenovia Microdose Delivery System (MiDD) Completed NCT03480906 Latanoprost;Latanoprost
5 Pilot Study of Bortezomib/Dexamethasone (BD), Followed By Autologous Stem Cell Transplantation and Maintenance Bortezomib/Dexamethasone For the Initial Treatment of Monoclonal Immunoglobulin Deposition Disease (MIDD) Associated With Multiple Myeloma and AL Amyloidosis Completed NCT01383759 Bortezomib/Dexamethasone (BD), Followed By Autologous STC & Maintenance Bortezomib/Dexamethasone
6 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067

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:

# 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:

40
Kidney, Heart, Eye, Retina, Cerebellum, Bone, Skeletal Muscle

Publications for Diabetes and Deafness, Maternally Inherited

Articles related to Diabetes and Deafness, Maternally Inherited:

(showing 319, show less)
# Title Authors PMID Year
1
Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report. 61 6 56
9353617 1997
2
Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes. 56 6
9571188 1998
3
Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation. 56 6
8603770 1996
4
Mitochondrial gene mutations and diabetes mellitus. 56 6
8094200 1993
5
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. 6 56
1360090 1992
6
Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. 56 6
1284550 1992
7
Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness. 61 6
12393175 2002
8
Maternally inherited diabetes and deafness: a multicenter study. 56 61
11329229 2001
9
Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. 56 61
8829651 1996
10
A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction. 6
27519417 2016
11
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 6
27296531 2016
12
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. 6
23243073 2013
13
Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy. 56
22869689 2012
14
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. 6
20610441 2010
15
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. 6
20697048 2010
16
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 6
20550934 2010
17
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. 6
19349610 2009
18
Protean phenotypic features of the A3243G mitochondrial DNA mutation. 6
19139304 2009
19
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. 6
18753147 2008
20
Pathogenic mitochondrial DNA mutations are common in the general population. 6
18674747 2008
21
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. 6
18306232 2008
22
Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood. 6
18252214 2008
23
The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons. 6
17656376 2007
24
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. 6
17823937 2007
25
Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G. 6
17564976 2007
26
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation. 6
16950816 2007
27
Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues. 6
17018649 2006
28
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. 6
17172609 2006
29
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 6
16326995 2006
30
DNA light-strand preferential recognition of human mitochondria transcription termination factor mTERF. 6
16336784 2005
31
MELAS A3243G mitochondrial DNA mutation and age related maculopathy. 6
15629304 2004
32
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. 6
15048886 2004
33
Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation. 6
15032978 2004
34
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting. 6
12905015 2003
35
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. 6
12612863 2003
36
The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. 6
11840193 2001
37
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. 6
11708999 2001
38
Mitochondrial DNA mutations and diabetes: another step toward individualized medicine. 56
11329235 2001
39
Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family. 6
11437868 2001
40
Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression. 6
11379873 2001
41
No correlation between muscle A3243G mutation load and mitochondrial function in vivo. 6
11320187 2001
42
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). 6
11241464 2001
43
Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G. 6
11175302 2001
44
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. 6
11096278 2001
45
Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. 6
11587074 2001
46
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 6
11085913 2001
47
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. 6
10858457 2000
48
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 6
10699170 2000
49
The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate. 6
10514449 1999
50
Nonrandom tissue distribution of mutant mtDNA. 56
10405450 1999
51
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. 6
10482110 1999
52
Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. 6
10407850 1999
53
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. 6
10366077 1999
54
Infantile encephalopathy associated with the MELAS A3243G mutation. 6
10356136 1999
55
Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review. 6
10392369 1999
56
Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 39-1998. A 13-year-old girl with a relapsing-remitting neurologic disorder. 6
9874606 1998
57
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. 6
9798744 1998
58
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. 6
9683591 1998
59
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. 6
9619647 1998
60
Mitochondrial disorders. 6
9465864 1998
61
Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association. 6
9382149 1997
62
The mitochondrial A3243G mutation presenting as severe cardiomyopathy. 6
9222976 1997
63
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. 6
9243242 1997
64
Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA. 6
9109727 1997
65
Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. 6
8818955 1996
66
VACTERL with the mitochondrial np 3243 point mutation. 6
8723071 1996
67
The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. 6
8723072 1996
68
Mitochondrial gene mutations in familial non-insulin-dependent diabetes mellitus in Taiwan. 6
8825603 1995
69
Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype. 6
8541865 1995
70
Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA. 6
7649539 1995
71
MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan. 6
7554321 1995
72
Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. 6
7473662 1995
73
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. 6
7726154 1995
74
Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. 6
7726155 1995
75
Prevalence and clinical characterization of Japanese diabetes mellitus with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene. 6
7714102 1995
76
Mitochondrial diabetes revisited. 56
7951312 1994
77
Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. 6
7931425 1994
78
Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. 6
8151636 1994
79
The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. 6
8442706 1993
80
Mitochondrial gene mutations and diabetes mellitus. 56
7679179 1993
81
Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. 6
1454794 1992
82
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. 6
1323207 1992
83
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. 6
1315123 1992
84
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. 56
1301992 1992
85
A specific point mutation in the mitochondrial genome of Caucasians with MELAS. 6
1684568 1991
86
Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). 6
1715668 1991
87
Importance of maternal history of non-insulin dependent diabetic patients. 56
2043812 1991
88
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. 6
2102678 1990
89
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). 6
2268345 1990
90
Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 1. Clinical, electrophysiological and pathological findings. 6
4114165 1972
91
The heart in m.3243A>G carriers. 61
30128910 2020
92
Fundus Autofluorescence in Maternally Inherited Diabetes and Deafness: The Gold Standard for Monitoring Maculopathy? 61
32395168 2020
93
Structural Features Associated with the Development and Progression of RORA Secondary to Maternally Inherited Diabetes and Deafness. 61
32446735 2020
94
Polyclonal immunoglobulin G deposition on the tubular basement membrane in a diabetic nephropathy: A case report. 61
32419249 2020
95
Heavy chain deposition disease presenting with raised anti-GBM antibody levels; a case report. 61
32398029 2020
96
Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness - Evaluation of Predicting Parameters. 61
31987901 2020
97
The Role of Kidney Transplantation in Monoclonal Ig Deposition Disease. 61
32274452 2020
98
THE ROLE OF HETEROPLASMY IN THE DIAGNOSIS AND MANAGEMENT OF MATERNALLY INHERITED DIABETES AND DEAFNESS. 61
31682520 2020
99
Consideration of a Credibility Assessment Framework in Model-Informed Drug Development: Potential Application to Physiologically-Based Pharmacokinetic Modeling and Simulation. 61
31652029 2020
100
Population Pharmacokinetics, Efficacy Exposure-response Analysis, and Model-based Meta-analysis of Fenebrutinib in Subjects with Rheumatoid Arthritis [corrected]. 61
31907670 2020
101
Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram. 61
31856543 2020
102
Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine. 61
31886753 2019
103
Role of Model-Informed Drug Development in Pediatric Drug Development, Regulatory Evaluation, and Labeling. 61
31502691 2019
104
Industry Perspective on Using MIDD for Pediatric Studies Requiring Integration of Ontogeny. 61
31502694 2019
105
Audiological and Vestibular Findings in Subjects with MELAS Syndrome. 61
31347509 2019
106
Clinical Pharmacology Review of Plasma-derived and Recombinant Protein Products: CBER Experience and Perspectives on Model-Informed Drug Development. 61
31131515 2019
107
Model-Informed Drug Development Approach Supporting Approval of Adalimumab (HUMIRA) in Adolescent Patients with Hidradenitis Suppurativa: a Regulatory Perspective. 61
31325056 2019
108
Renal Involvement as a Presenting Feature of Multiple Myeloma. 61
31391422 2019
109
Hematological, Biochemical and Renal Changes in Patients of Multiple Myeloma Treated with Bortezomib Based Triple Drug Chemotherapy. 61
31559769 2019
110
Pharmacometrics and systems pharmacology for metabolic bone diseases. 61
30690761 2019
111
Model-Informed Drug Development: Current US Regulatory Practice and Future Considerations. 61
30653670 2019
112
Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism. 61
30962477 2019
113
Emerging Role of Organ-on-a-Chip Technologies in Quantitative Clinical Pharmacology Evaluation. 61
30740886 2019
114
Randall-type monoclonal immunoglobulin deposition disease: novel insights from a nationwide cohort study. 61
30578255 2019
115
Model-Informed Drug Development for Ixazomib, an Oral Proteasome Inhibitor. 61
29446068 2019
116
mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases. 61
30471880 2019
117
Acute kidney injury on chronic kidney disease: from congestive heart failure to light chain deposition disease and cast nephropathy in multiple myeloma. 61
31531214 2019
118
[Diagnosis and treatment of kidney involvement in plasma cell diseases : Renal involvement in multiple myeloma and monoclonal gammopathies]. 61
30635666 2019
119
[Improvement of autoimmune cytopenia with ibrutinib in a chronic lymphocytic leukemia patient complicated by monoclonal immunoglobulin deposition disease]. 61
31695006 2019
120
De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome. 61
31143779 2019
121
Monoclonal Immunoglobulin Deposition Disease and Related Diseases. 61
30918151 2019
122
Acute renal failure in a patient with PR3-ANCA and monoclonal immunoglobulin deposition disease: Case report. 61
30593167 2018
123
Maternally inherited diabetes and deafness complicated by mesangial galactose-deficient IgA1 deposits: a case report. 61
30526529 2018
124
An IgA1-lambda-type monoclonal immunoglobulin deposition disease associated with membranous features in a patient with IgG4-related kidney disease: a case report. 61
30458736 2018
125
The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness. 61
30210725 2018
126
Mitochondrial disease: an uncommon but important cause of diabetes mellitus 61
30306776 2018
127
European myeloma network recommendations on diagnosis and management of patients with rare plasma cell dyscrasias. 61
30038381 2018
128
Successful treatment of nephrotic syndrome induced by lambda light chain deposition disease using lenalidomide: A case report and review of the literature
. 61
29393843 2018
129
Optimizing the target detectability of cone beam CT performed in image-guided radiation therapy for patients of different body sizes. 61
29516610 2018
130
Mitochondrial A3243G mutation results in corneal endothelial polymegathism. 61
29376197 2018
131
Changes in the Spectrum of Kidney Diseases: An Analysis of 40,759 Biopsy-Proven Cases from 2003 to 2014 in China. 61
29594138 2018
132
Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness. 61
30578504 2018
133
High-Dose Melphalan and Stem Cell Transplantation in Patients on Dialysis Due to Immunoglobulin Light-Chain Amyloidosis and Monoclonal Immunoglobulin Deposition Disease. 61
28865972 2018
134
Acquired Cutis Laxa Associated with Light and Heavy Chain Deposition Disease. 61
29441298 2018
135
Heteroplasmy Detection of Mitochondrial DNA A3243G Mutation Using Quantitative Real-Time PCR Assay Based on TaqMan-MGB Probes. 61
30539000 2018
136
Effects of supplementing methionine hydroxy analog on beef cow performance, milk production, reproduction, and preweaning calf performance. 61
29293801 2017
137
[Expert consensus for the diagnosis and treatment of patients with renal impairment of multiple myeloma]. 61
29136724 2017
138
Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy. 61
28140742 2017
139
The clinical characteristics of patients with mitochondrial tRNA Leu(UUR)m.3243A > G mutation: Compared with type 1 diabetes and early onset type 2 diabetes. 61
28599824 2017
140
Hematologic and renal improvement of monoclonal immunoglobulin deposition disease after treatment with bortezomib-based regimens. 61
27967286 2017
141
Long-term renal survival of γ3-heavy chain deposition disease: a case report. 61
28716013 2017
142
A continuum of genetic liability for minor and major depression. 61
28509901 2017
143
[Assessment of the genetic distances between some species of the family Bradybaenidae (Mollusca, Pulmonata)]. 61
29372973 2017
144
Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation. 61
27422531 2017
145
A novel mutation in mitochondrial DNA in a patient with diabetes, deafness and proteinuria. 61
27966441 2016
146
Paraprotein-Related Kidney Disease: Glomerular Diseases Associated with Paraproteinemias. 61
27526706 2016
147
Outcomes of patients with renal monoclonal immunoglobulin deposition disease. 61
27501122 2016
148
Shared Genetic Factors Underlie Migraine and Depression. 61
27302564 2016
149
Familial Aggregation of Migraine and Depression: Insights From a Large Australian Twin Sample. 61
27263615 2016
150
[Randall-type monoclonal immunoglobulin deposition disease: From diagnosis to treatment]. 61
27117766 2016
151
Visual, Ocular Motor, and Cochleo-Vestibular Loss in Patients With Heteroplasmic, Maternally-Inherited Diabetes Mellitus and Deafness (MIDD), 3243 Transfer RNA Mutation. 61
26741293 2016
152
Two sisters with macular dystrophy caused by the 3243A>G mitochondrial DNA mutation. 61
26897329 2016
153
Frequency of Depressive Syndromes in Elderly Individuals with No Cognitive Impairment, Mild Cognitive Impairment, and Alzheimer's Disease Dementia in a Memory Clinic Setting. 61
27643797 2016
154
Bortezomib produces high hematological response rates with prolonged renal survival in monoclonal immunoglobulin deposition disease. 61
26176826 2015
155
A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA. 61
26196248 2015
156
IgD heavy-chain deposition disease: detection by laser microdissection and mass spectrometry. 61
25194005 2015
157
A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy. 61
25701779 2015
158
The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. 61
25207879 2015
159
Impact of body habitus on fluoroscopic radiation emission during minimally invasive spine surgery. 61
25478823 2015
160
Renal transplantation in amyloidosis and MIDD. 61
25553370 2015
161
Probable light- and heavy-chain deposition disease in a patient with nodular diabetic glomerulosclerosis. 61
28509191 2014
162
[Establishment and application of quantitative detection for heteroplasmic mtDNA mutation 3243A→G]. 61
25119906 2014
163
Maternally inherited diabetes and deafness (MIDD): diagnosis and management. 61
24746802 2014
164
Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature. 61
24906873 2014
165
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? 61
24375076 2014
166
Microtubule organization and microtubule-associated proteins in plant cells. 61
25262237 2014
167
Hypertension, renal failure, and edema in a 38-year-old man: light chain deposition disease; a case report and review of the literature. 61
24772399 2014
168
A review of maternally inherited diabetes and deafness. 61
24389221 2014
169
Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study. 61
22492248 2013
170
Outer retinal tubulations in maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy. 61
23314478 2013
171
An unusual cause of gross hematuria and renal dysfunction in a young male. 61
24049277 2013
172
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. 61
23771172 2013
173
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. 61
23355809 2013
174
Primary cerebral low-grade B-cell lymphoma, monoclonal immunoglobulin deposition disease, cerebral light chain deposition disease and "aggregoma": an update on classification and diagnosis. 61
23947787 2013
175
Focal segmental glomerulosclerosis associated with maternally inherited diabetes and deafness: clinical pathological analysis. 61
24152508 2013
176
midD-encoded 'rhizomimosinase' from Rhizobium sp. strain TAL1145 is a C-N lyase that catabolizes L-mimosine into 3-hydroxy-4-pyridone, pyruvate and ammonia. 61
23462928 2013
177
[Mitochondrial DNA heteroplasmy of the m.3243A>G mutation in maternally inherited diabetes and deafness]. 61
23900320 2013
178
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. 61
23357420 2013
179
[Renal manifestations of light chain associated diseases - epidemiology and prognosis]. 61
23392999 2013
180
MIDD or MELAS : that's not the question MIDD evolving into MELAS : a severe phenotype of the m.3243A>G mutation due to paternal co-inheritance of type 2 diabetes and a high heteroplasmy level. 61
23230016 2012
181
Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism. 61
23295301 2012
182
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation. 61
22403016 2012
183
[Exploration of early assessment of renal impairment in multiple myeloma]. 61
23384902 2012
184
Assessment of ruminal hydrogen sulfide or urine thiosulfate as diagnostic tools for sulfur induced polioencephalomalacia in cattle. 61
22643342 2012
185
Pathology after eculizumab in dense deposit disease and C3 GN. 61
22677550 2012
186
Clinicopathologic correlations in multiple myeloma: a case series of 190 patients with kidney biopsies. 61
22417785 2012
187
Renal monoclonal immunoglobulin deposition disease: a report of 64 patients from a single institution. 61
22156754 2012
188
Screening and differential diagnosis of renal light chain-associated diseases. 61
22056791 2012
189
Mitochondrial diabetes in children: seek and you will find it. 61
22536343 2012
190
A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness. 61
21994425 2011
191
Renal outcome and monoclonal immunoglobulin deposition disease in 289 old patients with blood cell dyscrasias: a single center experience. 61
20570173 2011
192
[Diabetes and hypokinetic cardiopathy : when to consider mitochondrial disease?]. 61
20851378 2011
193
Mitochondrial diabetes and deafness: possible dysfunction of strial marginal cells of the inner ear. 61
21453644 2011
194
[Diseases caused by mutations in mitochondrial DNA]. 61
21913424 2011
195
Ptosis as an associated finding in maternally inherited diabetes and deafness. 61
21067488 2010
196
A family with diabetes and heart failure. 61
22790282 2010
197
Renal involvement of monoclonal immunoglobulin deposition disease associated with an unusual monoclonal immunoglobulin A glycan profile. 61
20454825 2010
198
Intracerebral amyloidoma: case report and review of the literature. 61
20569671 2010
199
Using alfalfa leaf meal as a supplement in late-gestation beef heifer and nursing beef calf diets. 61
20154156 2010
200
[Mitochondrial diabetes: clinical features, diagnosis and management]. 61
19299044 2010
201
Association between clinical depression and endothelial function measured by forearm hyperemic reactivity. 61
19875632 2010
202
Intracellular extraocular muscle light- and heavy-chain deposition disease contributing to compressive optic neuropathy in a patient with preexisting Graves' orbitopathy. 61
19707026 2010
203
Brain anomalies in maternally inherited diabetes and deafness syndrome. 61
19536585 2009
204
Mitochondrial ataxias. 61
19831121 2009
205
The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. 61
19470619 2009
206
High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects. 61
19470628 2009
207
[Maternally Inherited Diabetes and Deafness]. 61
19658054 2009
208
A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern. 61
19116951 2009
209
Phosphorus-31 magnetic resonance spectroscopy of skeletal muscle in maternally inherited diabetes and deafness A3243G mitochondrial mutation carriers. 61
19097109 2009
210
Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness. 61
21475792 2009
211
[Mitochondrial DNA: properties and applications]. 61
20707216 2009
212
Monoclonal immunoglobulin deposition disease associated with membranous features. 61
18596130 2008
213
[Maternally inherited diabetes and deafness: a case report]. 61
19080780 2008
214
Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10. 61
19169492 2008
215
Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness. 61
19169474 2008
216
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. 61
18581092 2008
217
High-dose melphalan and auto-SCT in patients with monoclonal Ig deposition disease. 61
18574442 2008
218
Macular pattern dystrophy in MIDD: long-term follow-up. 61
18586543 2008
219
Mitochondrial DNA (mtDNA) A 3243G mutation associated with an annular perimacular retinal atrophy. 61
18454399 2008
220
Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. 61
18294221 2008
221
Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka. 61
18279408 2008
222
[A case of maternally inherited diabetes with deafness (MIDD) occurring at an advanced age]. 61
18332579 2008
223
[Coraxan and atenolol: similarities and differences in correction of clinical and functional indices in therapy of patients with coronary heart disease]. 61
18441705 2008
224
A concurrence of light and heavy chain deposition disease and diabetic nephropathy. 61
18041443 2007
225
[Diabetes mellitus associated with the mitochondrial mutation A3243G: frequency and clinical presentation]. 61
17684616 2007
226
Monoclonal gammopathy presenting as recurrent nephrotic syndrome: therapeutic implications. 61
17505177 2007
227
Mitochondrial deafness. 61
17489842 2007
228
Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases. 61
17336924 2007
229
[Dilated cardiomyopathy, diabetes and deafness related to a mutation of mitochondrial DNA]. 61
17474502 2007
230
Mid-dilution: an innovative high-quality and safe haemodiafiltration approach. 61
17684353 2007
231
Mitochondrial damages and the regulation of insulin secretion. 61
17052207 2006
232
[Morphological characteristics of the non-amyloid form of renal monoclonal immunoglobulin deposition]. 61
17290887 2006
233
Mitochondrial diabetes and its lessons for common Type 2 diabetes. 61
17052206 2006
234
Progressive sensorineural hearing impairment in maternally inherited diabetes mellitus and deafness (MIDD). 61
16788417 2006
235
Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function. 61
16736129 2006
236
The combination of thrombotic microangiopathy and nodular sclerosis in light chain deposition disease. 61
17044479 2006
237
[Diabetes mellitus: simple classification and corresponding treatment]. 61
16715862 2006
238
Myocardial dysfunction in mitochondrial diabetes treated with Coenzyme Q10. 61
16253379 2006
239
A 19-year-old male with generalized seizures, unconsciousness and a deviation of gaze. 61
16768760 2006
240
Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes. 61
17154655 2006
241
Maternally inherited diabetes with deafness and obesity: body weight reduction response to treatment with insulin analogues. 61
17487345 2006
242
[Glomerulonephritis with organized immunoglobulin deposits]. 61
16895706 2005
243
[The kidney in dysproteinemia]. 61
16419005 2005
244
The ultrastructural basis of renal pathology in monoclonal gammopathies. 61
16358223 2005
245
A case of monoclonal immunoglobulin light- and heavy-chain deposition disease exhibiting atypical deposition with fibrillary structures, successfully treated with chemotherapy. 61
16175947 2005
246
[Diabetes and mitochondrial cytopathies: pathological studies]. 61
16327655 2005
247
Genetics of type 2 diabetes mellitus. 61
15955369 2005
248
Influence of fish oil supplementation on growth and immune system characteristics of cattle. 61
15827255 2005
249
A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI). 61
15897646 2005
250
MIDD and MELAS: a clinical spectrum. 61
15897633 2005
251
Structural probing of a pathogenic tRNA dimer. 61
15701731 2005
252
Type 2 diabetes mellitus: from genes to disease. 61
16415484 2005
253
Molecular mechanisms of mitochondrial diabetes (MIDD). 61
16019720 2005
254
Chorea triggered by hyperglycemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification. 61
15654564 2005
255
Cosegregation of MIDD and MODY in a pedigree: functional and clinical consequences. 61
15220216 2004
256
Localized retinal electrophysiological and fundus autofluorescence imaging abnormalities in maternal inherited diabetes and deafness. 61
15223817 2004
257
Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. 61
15073091 2004
258
Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD). 61
15223991 2004
259
Gastrointestinal tract symptoms in Maternally Inherited Diabetes and Deafness (MIDD). 61
15029099 2004
260
Maternally inherited diabetes and deafness (MIDD) syndrome: a clinical and molecular genetic study of a Taiwanese family. 61
15074893 2004
261
Pelvic lymphocyst infection associated with maternally inherited diabetes mellitus. 61
12951283 2003
262
Monoclonal gammopathy: significance and possible causality in renal disease. 61
12830460 2003
263
[Involvement of neuromuscular disorders in maternally inherited diabetes with deafness (MIDD)]. 61
12746969 2003
264
The mid genes of Rhizobium sp strain TAL1145 are required for degradation of mimosine into 3-hydroxy-4-pyridone and are inducible by mimosine. 61
12624215 2003
265
Insulin resistance in patients with the mitochondrial tRNA(Leu(UUR)) gene mutation at position 3243. 61
12373633 2002
266
A case of a de novo A3243G mutation in mitochondrial DNA in a patient with diabetes and deafness. 61
12221518 2002
267
By-product feeds for meat goats: effects on digestibility, ruminal environment, and carcass characteristics. 61
12162642 2002
268
Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. 61
12045211 2002
269
Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis. 61
12116179 2002
270
Cochlear implantation in maternal inherited diabetes and deafness syndrome. 61
12080997 2002
271
Mitochondrial 3243 BP mutation: a case report. 61
11853367 2001
272
[From gene to disease; mutation in mitochondrial DNA and maternally inherited diabetes mellitus with deafness (MIDD)]. 61
11757250 2001
273
Renal monoclonal immunoglobulin deposition disease: the disease spectrum. 61
11423577 2001
274
[From gene to disease; mutation in mitochondrial DNA and maternally inherited diabetes mellitus with deafness (MIDD)]. 61
11433662 2001
275
Abnormal immunoglobulin synthesis in monoclonal immunoglobulin light chain and light and heavy chain deposition disease. 61
11409038 2001
276
Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA. 61
11240563 2001
277
Search for mitochondrial A3243G tRNA(Leu) mutation in Polish patients with type 2 diabetes mellitus. 61
11257730 2001
278
Molecular and clinical aspects of mitochondrial diabetes mellitus. 61
11409293 2001
279
HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness. 61
11168326 2000
280
Selenium and iodine in soil, rice and drinking water in relation to endemic goitre in Sri Lanka. 61
11194147 2000
281
Mitochondrial DNA variations in patients with maternally inherited diabetes and deafness syndrome. 61
11062027 2000
282
Pathophysiology of impaired pulsatile insulin release. 61
10867718 2000
283
Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA. 61
10772130 2000
284
Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family. 61
10826513 2000
285
[Current and future aspects of mitochondrial diseases]. 61
10791075 1999
286
High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. 61
10447526 1999
287
Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus. 61
10664322 1999
288
Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group. 61
10485557 1999
289
Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease. 61
10230654 1999
290
Does mitochondrial genome mutation in subjects with maternally inherited diabetes and deafness decrease severity of diabetic retinopathy? 61
9827849 1998
291
The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation. 61
9628277 1998
292
MR imaging and proton MR spectroscopy in A-to-G substitution at nucleotide position 3243 of leucine transfer RNA. 61
9504470 1998
293
Maternally-inherited diabetes and deafness: report of two affected German families with the A3243G mitochondrial DNA mutation. 61
9831303 1998
294
[A new subtype of diabetes mellitus: maternally inherited diabetes and deafness (MIDD)]. 61
9557035 1998
295
Multiple Myeloma Presenting with Crystal Deposition in the Bone Marrow. 61
27420333 1998
296
Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome. 61
9309689 1997
297
Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease. 61
9219161 1997
298
[Clinical characterizations of familial diabetes mellitus associated with mitochondrial gene mutation]. 61
9772504 1997
299
Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population. 61
9212310 1997
300
Clinical aspects of mitochondrial diabetes. 61
9105784 1997
301
Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA. 61
9105898 1997
302
Biology and therapy of immunoglobulin deposition diseases. 61
9081206 1997
303
Insulin resistance associated with maternally inherited diabetes and deafness. 61
8609843 1996
304
The molecular basis and clinical characteristics of Maternally Inherited Diabetes and Deafness (MIDD), a recently recognized diabetic subtype. 61
8817237 1996
305
Molecular genetics of diabetes mellitus. 61
7575335 1995
306
D-glucose metabolism in lymphocytes of patients with mitochondrial point mutation of the tRNALeu(UUR) gene. 61
8581364 1995
307
Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation. 61
7603513 1995
308
A subtype of diabetes mellitus associated with a mutation in the mitochondrial gene. 61
7603515 1995
309
Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene. 61
7910800 1994
310
[Light chain deposition disease]. 61
7917761 1994
311
Intraoperative transesophageal echocardiography for detection of myocardial ischemia. 61
8307553 1993
312
Mechanisms of disease: monoclonal immunoglobulin deposition. Amyloidosis, light chain deposition disease, and light and heavy chain deposition disease. 61
1582976 1992
313
The spectrum of monoclonal immunoglobulin deposition disease associated with immunocytic dyscrasias. 61
2506646 1989
314
Statistical modelling of water colour in the uplands: The Upper Midd catchment 1979-1987. 61
15092394 1989
315
The chemical feeding ecology ofNeodiprion dubiosus schedl,N. rugifrons midd., andN. lecontei (Fitch) on jack pine (Pinus banksiana lamb.). 61
24318850 1984
316
Chemical Basis for Feeding Adaptation of Pine Sawflies Neodiprion rugifrons and Neodiprion swainei. 61
17783252 1977
317
Differences in the gas-metabolism rates of two forms of terrestrial mollusks, Bradybaena fruticum (Müll.) and Bradybaena schrencki (Midd.). 61
4445921 1974
318
[Determination of photosensitive instars in Neodiprion swanei Midd. (Hymenoptera, Diproionidae)]. 61
5094113 1971
319
Formation of cysts as a defensive reaction in pupae and adults of Neodiprion swainei Midd. (Hymenoptera: Tenthredinidae). 61
5374690 1969

Variations for Diabetes and Deafness, Maternally Inherited

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

6 (showing 4, show less) ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TL1 NC_012920.1:m.3243A>GSNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
2 MT-TE NC_012920.1:m.14692A>GSNV Pathogenic 267298 rs879192165 MT:14692-14692 MT:14692-14692
3 MT-TE m.14709T>CSNV Pathogenic/Likely pathogenic 9617 rs121434453 MT:14709-14709 MT:14709-14709
4 MT-TK m.8296A>GSNV Benign 9584 rs118192102 MT:8296-8296 MT:8296-8296

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:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.04 MT-TL1 MT-TK MT-TE

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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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