MCID: MTR004
MIFTS: 62

Maturity-Onset Diabetes of the Young

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Liver diseases, Endocrine diseases

Aliases & Classifications for Maturity-Onset Diabetes of the Young

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young:

Name: Maturity-Onset Diabetes of the Young 53 12 49 55 28 14
Mody 53 12 49 55
Maturity Onset Diabetes Mellitus in Young 28 69
Maturity Onset Diabetes of the Young 72 36
Mason-Type Diabetes 53 12
Mason Type Diabetes 49
Mody Syndrome 72

Characteristics:

Orphanet epidemiological data:

55
mody
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 55  
Rare endocrine diseases


External Ids:

OMIM 53 606391
Disease Ontology 12 DOID:0050524
ICD10 32 E11.8
Orphanet 55 ORPHA552
UMLS via Orphanet 70 C0342276
ICD10 via Orphanet 33 E11.9
MedGen 39 C0342276
KEGG 36 H00410
UMLS 69 C0342276

Summaries for Maturity-Onset Diabetes of the Young

NIH Rare Diseases : 49 Maturity-onset diabetes of the young (MODY) is a form of diabetes that is characterized by an early onset diabetes.  MODY represents about 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus. It is due to a primary defect in pancreatic β-cell function. There are several MODY subtypes with distinct genetic causes: MODY1, caused by mutations in the HNF4A gene; MODY2, caused by mutations in GCK gene; MODY3 caused by mutations in the HNFA1 (the most common type); MODY4 caused by mutations in the PDX1 gene; MODY5 caused by mutations in the HNF1B gene; MODY6 caused by mutations in the NEUROD1 gene; MODY7 caused by mutations in the KLF11 gene; MODY8 caused by mutations in the CEL gene; MODY9 caused by mutations in the PAX4 gene; MODY10 caused by mutations in the INS gene; MODY11 caused by mutations in the BLK gene; MODY12 caused by mutations in the ABCC8 gene; MODY13  caused by heterozygous mutation in the KCNJ11 gene; and MODY14 caused by mutations in the APPL1 gene. It is inherited in an autosomal dominant pattern. Treatment depends on the subtype and may include sulfonylureas, insulin or diet and exercise. Last updated: 4/20/2016

MalaCards based summary : Maturity-Onset Diabetes of the Young, also known as mody, is related to maturity-onset diabetes of the young, type 2 and maturity-onset diabetes of the young, type 3. An important gene associated with Maturity-Onset Diabetes of the Young is GCK (Glucokinase), and among its related pathways/superpathways are Maturity onset diabetes of the young and Type II diabetes mellitus. The drugs Metformin and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and lung, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A genetic disease that has material basis in mutations in the MODY genes disrupting insulin production.

OMIM : 53 Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008). (606391)

Wikipedia : 72 \"Maturity onset diabetes of the young\" (MODY) refers to any of several hereditary forms of diabetes... more...

Related Diseases for Maturity-Onset Diabetes of the Young

Diseases in the Maturity-Onset Diabetes of the Young family:

Maturity-Onset Diabetes of the Young, Type 1 Maturity-Onset Diabetes of the Young, Type 2
Maturity-Onset Diabetes of the Young, Type 3 Maturity-Onset Diabetes of the Young, Type 4
Maturity-Onset Diabetes of the Young, Type 6 Maturity-Onset Diabetes of the Young, Type 7
Maturity-Onset Diabetes of the Young, Type 9 Maturity-Onset Diabetes of the Young, Type 10
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13
Maturity-Onset Diabetes of the Young, Type 14

Diseases related to Maturity-Onset Diabetes of the Young via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young, type 2 35.2 GCK INS
2 maturity-onset diabetes of the young, type 3 35.2 HNF1A INS
3 maturity-onset diabetes of the young, type 6 35.1 HNF1A NEUROD1
4 renal cysts and diabetes syndrome 34.5 HNF1B HNF4A
5 diabetes mellitus, transient neonatal, 1 31.7 ABCC8 INS KCNJ11
6 diabetes mellitus, permanent neonatal 31.6 ABCC8 GCK INS KCNJ11 PDX1
7 gestational diabetes 30.6 GCK HNF1A INS KCNJ11
8 hypoglycemia 30.4 ABCC8 GCK INS KCNJ11
9 hyperinsulinemic hypoglycemia 30.1 ABCC8 GCK HNF4A INS KCNJ11
10 diabetes mellitus 30.0 ABCC8 GCK HNF1A HNF1B HNF4A INS
11 hyperinsulinism 30.0 ABCC8 GCK HNF4A INS KCNJ11
12 hyperinsulinemic hypoglycemia, familial, 3 29.9 ABCC8 GCK
13 hyperglycemia 29.8 ABCC8 GCK HNF1A INS KCNJ11 PDX1
14 diabetes mellitus, noninsulin-dependent 29.3 ABCC8 GCK GCKR HNF1A HNF1B HNF4A
15 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 12.9
16 maturity-onset diabetes of the young, type 9 12.9
17 maturity-onset diabetes of the young, type 1 12.9
18 maturity-onset diabetes of the young, type 4 12.9
19 maturity-onset diabetes of the young, type 10 12.8
20 maturity-onset diabetes of the young, type 13 12.8
21 maturity-onset diabetes of the young, type 7 12.8
22 maturity-onset diabetes of the young, type 11 12.7
23 maturity-onset diabetes of the young, type 14 12.7
24 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 12.7
25 17q12 deletion syndrome 11.1
26 hyperinsulinism due to glucokinase deficiency 11.1
27 acquired metabolic disease 10.5 GCK INS KCNJ11 SLC2A2
28 type 1 diabetes mellitus 7 10.5 INS NEUROD1
29 diarrhea 4, malabsorptive, congenital 10.5 NEUROD1 NEUROG3
30 diabetes mellitus, insulin-dependent 10.5 GCK HNF1A INS NEUROD1 PAX4 PDX1
31 type 1 diabetes mellitus 11 10.4 HNF1A INS
32 pancreatitis 10.3
33 intestinal atresia 10.2 GCK PDX1
34 hepatitis 10.2
35 aging 10.1
36 munchausen by proxy 10.1 ABCC8 GCK KCNJ11
37 duodenitis 10.1
38 acute insulin response 10.1 ABCC8 INS KCNJ11
39 factitious disorder 10.1 ABCC8 GCK INS KCNJ11
40 fanconi-bickel syndrome 10.1 ABCC8 INS SLC2A2
41 hyperinsulinemic hypoglycemia, familial, 2 10.1 ABCC8 HNF4A INS KCNJ11
42 pancreas disease 10.0 ABCC8 INS KCNJ11
43 endocrine pancreas disease 10.0 ABCC8 GCK INS KCNJ11
44 cardiomyopathy, dilated, 1o 10.0 ABCC8 KCNJ11
45 pancreatic agenesis 10.0 ABCC8 GCK INS KCNJ11 PDX1
46 blood group, i system 10.0
47 body mass index quantitative trait locus 11 10.0
48 body mass index quantitative trait locus 9 10.0
49 body mass index quantitative trait locus 8 10.0
50 body mass index quantitative trait locus 4 10.0

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young:



Diseases related to Maturity-Onset Diabetes of the Young

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young

Clinical features from OMIM:

606391

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.86 GCK GCKR PKLR
2 Decreased viability GR00221-A-2 9.86 GCK PKLR
3 Decreased viability GR00221-A-3 9.86 APPL1 GCK
4 Decreased viability GR00221-A-4 9.86 APPL1 BLK GCK GCKR PKLR
5 Decreased viability GR00231-A 9.86 GCK
6 Decreased viability GR00301-A 9.86 PKLR
7 Decreased viability GR00342-S-3 9.86 PKLR
8 Decreased viability GR00381-A-1 9.86 APPL1
9 Decreased free cholesterol GR00340-A-2 9.33 GCKR HNF1A HNF4A
10 shRNA abundance <= 50% GR00343-S 9.32 KCNJ11 NEUROD1 PDX1 PKLR SLC2A2 BLK

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 ABCC8 APPL1 CEL FOXA2 GCK GCKR
2 growth/size/body region MP:0005378 10.31 APPL1 CEL FOXA2 GCK HNF1A HNF1B
3 endocrine/exocrine gland MP:0005379 10.3 INS KCNJ11 NEUROD1 NEUROG3 NKX2-2 PAX4
4 mortality/aging MP:0010768 10.2 INS KCNJ11 NEUROD1 APPL1 FOXA2 GCK
5 adipose tissue MP:0005375 10.04 APPL1 CEL FOXA2 HNF1A INS KCNJ11
6 digestive/alimentary MP:0005381 10.02 CEL FOXA2 HNF1A INS NEUROD1 NEUROG3
7 liver/biliary system MP:0005370 10.02 CEL FOXA2 GCK HNF1A HNF1B HNF4A
8 muscle MP:0005369 9.8 APPL1 HNF1A HNF1B INS KCNJ11 PDX1
9 no phenotypic analysis MP:0003012 9.7 NEUROG3 PDX1 ABCC8 APPL1 HNF1A INS
10 normal MP:0002873 9.65 BLK FOXA2 HNF4A INS KLF11 NEUROG3
11 renal/urinary system MP:0005367 9.17 GCK HNF1A HNF1B INS NEUROD1 NEUROG3

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young

Drugs for Maturity-Onset Diabetes of the Young (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 149)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 4091 14219
2
Ethanol Approved Phase 4 64-17-5 702
3 Central Nervous System Depressants Phase 4,Phase 1
4 Sitagliptin Phosphate Phase 4
5 Dipeptidyl-Peptidase IV Inhibitors Phase 4
6 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1
7 Anti-Infective Agents Phase 4
8 Anti-Infective Agents, Local Phase 4
9 Hematinics Phase 4
10 Epoetin alfa Phase 4 113427-24-0
11
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
12
Paclitaxel Approved, Vet_approved Phase 3,Phase 1 33069-62-4 36314
13
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
14
Glimepiride Approved Phase 2, Phase 3 93479-97-1 3476
15
Exenatide Approved, Investigational Phase 3 141758-74-9 15991534
16
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
17
chenodeoxycholic acid Approved Phase 3 474-25-9 10133
18
Timolol Approved Phase 3 26839-75-8 5478 33624
19
Treprostinil Approved, Investigational Phase 3 81846-19-7 6918140 54786
20
Bimatoprost Approved, Investigational Phase 3 155206-00-1 5311027
21
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
22
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
23 Estradiol valerate Phase 3 979-32-8
24 Albumin-Bound Paclitaxel Phase 3,Phase 1
25 Estradiol 17 beta-cypionate Phase 3
26 Estradiol 3-benzoate Phase 3
27 Polyestradiol phosphate Phase 3
28 Antimitotic Agents Phase 3,Phase 1
29 Antineoplastic Agents, Phytogenic Phase 3,Phase 1
30 Micronutrients Phase 3,Phase 1
31 Gastrointestinal Agents Phase 3,Phase 1
32 Glucagon-Like Peptide 1 Phase 2, Phase 3,Phase 1
33 Neurotransmitter Agents Phase 3,Phase 1
34 Trace Elements Phase 3,Phase 1
35 Hormone Antagonists Phase 2, Phase 3, Phase 1
36 Hormones Phase 2, Phase 3, Phase 1
37 Vitamins Phase 3,Phase 1
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3, Phase 1
39 Anti-Arrhythmia Agents Phase 2, Phase 3
40 Ergocalciferols Phase 3
41 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
42 Incretins Phase 2, Phase 3
43 Bone Density Conservation Agents Phase 3
44 Calcium, Dietary Phase 3
45 Cathartics Phase 3
46 Adrenergic Agents Phase 3
47 Adrenergic Antagonists Phase 3
48 Adrenergic beta-Antagonists Phase 3
49 Antihypertensive Agents Phase 3
50 Laxatives Phase 3

Interventional clinical trials:

(show top 50) (show all 57)

# Name Status NCT ID Phase Drugs
1 Phenotypic and Genetic Correlates of Diabetes (Non-Type 1) in Young Non-Obese Asian Indians in North India and A Study to Evaluate the Efficacy of Sitagliptin (DPP-4 Inhibitor) in a Sub-group of the Study Population Completed NCT00964184 Phase 4 Metformin
2 Alcohol Research Consortium in HIV-Intervention Research Arm Recruiting NCT02938377 Phase 4 Recommendation and Counseling for Alcohol Pharmacotherapy
3 A Study of Methoxy Polyethylene Glycol-Epoetin Beta (Mircera) for the Treatment of Chronic Renal Anemia in Participants With Diabetic Nephropathy Active, not recruiting NCT01191983 Phase 4 Methoxy polyethylene glycol-epoetin beta [Mircera]
4 Carboplatin With Either Paclitaxel Poliglumex or Paclitaxel in Treating Women With Stage IIIB, Stage IV, or Recurrent Non-Small Cell Lung Cancer Unknown status NCT00551733 Phase 3 carboplatin;paclitaxel;paclitaxel poliglumex
5 The Effects of GLP-1 in Maturity-Onset Diabetes of The Young (MODY) Completed NCT01610934 Phase 2, Phase 3 liraglutide;Glimepiride
6 Safety and Efficacy of OSTEOFORM (rhPTH [1-34]) in Increasing Bone Mineral Density in Osteoporosis Completed NCT00500409 Phase 3 Osteoform;SHELCAL
7 Extension Study for 2993-112 Completed NCT01789957 Phase 3 AC2993
8 Evaluation of the Effect on Glucose Control of AC2993 in Patients With Type 2 Diabetes Mellitus Treated With a Sulfonylurea Completed NCT00039026 Phase 3 AC2993;AC2993;Placebo;Placebo
9 Safety and Efficacy of Bimatoprost Sustained-Release (SR) in Patients With Open-Angle Glaucoma or Ocular Hypertension Recruiting NCT02250651 Phase 3 Bimatoprost sustained-release;Timolol;Timolol Vehicle (placebo)
10 An Open-Label, Long-Term Study of Oral Treprostinil in Subjects With Pulmonary Arterial Hypertension Recruiting NCT01560637 Phase 3 UT-15C (treprostinil diethanolamine)
11 Trial of the Early Combination of Oral Treprostinil With Background Oral Monotherapy in Subjects With Pulmonary Arterial Hypertension Recruiting NCT01560624 Phase 3 UT-15C (treprostinil diethanolamine);Placebo
12 Randomized Global Phase 3 Study to Evaluate the Impact on NASH With Fibrosis of Obeticholic Acid Treatment Recruiting NCT02548351 Phase 3 Obeticholic Acid;Placebo
13 Safety and Efficacy Phase 3 Study of Long-acting hGH (MOD-4023) in Growth Hormone Deficient Children Recruiting NCT02968004 Phase 3 MOD-4023;Somatropin
14 Efficacy of Foot Orthotics in Veterans With Chronic Lower Back Pain Terminated NCT01865539 Phase 2, Phase 3
15 A Study to Determine the Safety & Efficacy of Autologous Human Platelet Lysate (HPL) in Treatment of Dark Circles Unknown status NCT01644448 Phase 1, Phase 2
16 Clinical Trial of YH14618 in Patients With Degenerative Disc Disease Completed NCT02320019 Phase 2 Placebo;YH14618
17 Open-label Study of STA-9090 for Patients With Metastatic Breast Cancer Completed NCT01273896 Phase 2 STA-9090
18 RTA 408 Ophthalmic Suspension for the Prevention of Corneal Endothelial Cell Loss Following Cataract Surgery - GUARD Completed NCT02128113 Phase 2 Placebo;0.5% Omaveloxolone Ophthalmic Suspension;1% Omaveloxolone Ophthalmic Suspension
19 A Clinical Trial to Evaluate the Safety and Efficacy of ZYH7 Compared to Fenofibrate in Patients With Dyslipidemia Completed NCT01539616 Phase 2 ZYH7;ZYH7;ZYH7;Fenofibrate
20 Capecitabine 7/7 Schedule With Neratinib in Patients With Metastatic HER2-Positive Breast Cancer Recruiting NCT03377387 Phase 1, Phase 2 capecitabine;neratinib
21 Mobile Device Outcomes-based Rehabilitation Program Recruiting NCT02891707 Phase 1, Phase 2
22 Bone Marrow Transplantation vs Standard of Care in Patients With Severe Sickle Cell Disease (BMT CTN 1503) Recruiting NCT02766465 Phase 2 Busulfan;Fludarabine;r-ATG;Tacrolimus;Methotrexate
23 Evaluate Safety and Effectiveness of MBX-102 in Type 2 Diabetes Patients With Poor Glycemic Control on Metformin Terminated NCT00814372 Phase 2 MBX-102;Placebo;Actos;Metformin
24 Bioequivalence Study of Zafirlukast Tablets 20 mg of Dr. Reddy's Laboratories Limited Under Fasting Condition Completed NCT01283061 Phase 1 Zafirlukast
25 Bioavailability Study of Anastrozole Tablets 1 mg of Dr.Reddy's Under Fed Conditions Completed NCT01155960 Phase 1 Anastrozole
26 Bioavailability Study of Duloxetine Delayed-Relase Capsules 60 mg Under Fed Condition Completed NCT02291341 Phase 1 Duloxetine;Cymbalta®
27 Bioequivalence Study of Eszopiclone Tablets, 3 mg Under Fed Conditions Completed NCT02322658 Phase 1 Eszopiclone Tablets 3 mg
28 Bioequivalence Study of Eszopiclone Tablets, 3 mg Under Fasting Conditions Completed NCT02322645 Phase 1 Eszopiclone Tablets 3 mg
29 Contribution of Hyperinsulinemia vs. Hyperglycemia to Insulin Resistance in Type 1 Diabetes and Maturity Onset Diabetes of the Young, Type 2 (MODY2) Recruiting NCT02971202 Phase 1 Hyperinsulinemic, euglycemic clamp;20% dextrose
30 PU-H71 With Nab-paclitaxel (Abraxane) in Metastatic Breast Cancer Recruiting NCT03166085 Phase 1 PU-H71;Nab-paclitaxel
31 Open-Label Study Evaluating the Safety and Tolerability of LJM716, BYL719 and Trastuzumab in Patients With Metastatic HER2+ Breast Cancer Recruiting NCT02167854 Phase 1 BYL719;LJM716;TRASTUZUMAB
32 T-Cell Therapy for Advanced Breast Cancer Recruiting NCT02792114 Phase 1 Cyclophosphamide;AP1903
33 A Safety Study of SGN-LIV1A in Breast Cancer Patients Recruiting NCT01969643 Phase 1 SGN-LIV1A;Trastuzumab
34 Ganetespib, Paclitaxel, Trastuzumab and Pertuzumab for Metastatic Human Epidermal Growth Factor Receptor 2 Positive Breast Cancer Active, not recruiting NCT02060253 Phase 1 ganetespib;paclitaxel
35 Comparing the Use of Vitamin c (Ascorbic Acid) in Eye Burn in Subconjunctival Injection to Topical or Oral Treatment. Withdrawn NCT00734695 Phase 1
36 PREterM FOrmula Or Donor Breast Milk for Premature Babies Unknown status NCT01686477
37 Pathophysiological Implications of the Incretin Hormones in Maturity Onset of Diabetes of the Young (MODY) Completed NCT01342939
38 Orthotic Use for Chronic Low Back Pain Completed NCT02089750
39 Predisposition Genes in Monogenic Diabetes (DIAMONO) Completed NCT02634229
40 Newborn Feeding and Infant Phenotype Completed NCT02033005
41 Post-prandial Glucose in Healthy Indian Subjects Completed NCT01999543
42 Post-prandial Glucose in Healthy Subjects Completed NCT01955447
43 Effect of a Plant-based Ingredient on Glucose Response Completed NCT02218528
44 Transcorneal Electrical Stimulation Therapy for Retinal Disease Completed NCT00804102
45 Plant-based Ingredient on Post Prandial Glucose in Type II Diabetes Completed NCT02256332
46 Bioequivalence Study Comparing Clindamycin Phosphate (1.2%) and Tretinoin (0.025%) Topical Gel to Ziana and Placebo Completed NCT01257906 CLIND PHOSPHATE (1.2%) AND TRETINOIN (0.025%) TOPICAL GEL;ZIANA®;Vehicle Control
47 Study Comparing 0.3% Adapalene Topical Gel to Differin® 0.3% Adapalene Topical Gel Completed NCT01095640 adapalene 0.3% topical gel
48 The Effect of GIP and GLP-1 on Insulin and Glucagon Secretion in Patients With HNF1A-diabetes Treated With or Without Sulphonylurea Recruiting NCT03081676 Glimepiride 1Mg Tablet;Glucagon-like Peptide-1;Glucose-Dependent Insulinotropic Polypeptide;Placebo Oral Tablet;Placebo infusion
49 Impact on Birth Weight of Two Therapeutic Strategies (Insulin Therapy From the Beginning of Pregnancy vs. Insulin Therapy Initiated According to Fetal Growth Evaluated by Ultrasonography Measurements) in Pregnant Women With Monogenic Diabetes Recruiting NCT02556840
50 MODY in Young-onset Diabetes in Different Ethnicities Recruiting NCT02082132

Search NIH Clinical Center for Maturity-Onset Diabetes of the Young

Genetic Tests for Maturity-Onset Diabetes of the Young

Genetic tests related to Maturity-Onset Diabetes of the Young:

# Genetic test Affiliating Genes
1 Maturity Onset Diabetes Mellitus in Young 28
2 Maturity-Onset Diabetes of the Young 28

Anatomical Context for Maturity-Onset Diabetes of the Young

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young:

38
Bone, Testes, Lung, Liver, Kidney, T Cells, Eye

Publications for Maturity-Onset Diabetes of the Young

Articles related to Maturity-Onset Diabetes of the Young:

(show top 50) (show all 331)
# Title Authors Year
1
Quantitative Evaluation of Serum Proteins Uncovers a Protein Signature Related to Maturity-Onset Diabetes of the Young (MODY). ( 29182332 )
2018
2
A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations. ( 29222740 )
2018
3
The unique clinical spectrum of maturity onset diabetes of the young type 3. ( 29107759 )
2018
4
Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations. ( 29408271 )
2018
5
Maturity-onset diabetes of the young (MODY) as a model for elucidating the multifactorial origin of type 2 diabetes mellitus. ( 29406598 )
2018
6
Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes? ( 29355436 )
2018
7
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. ( 29417725 )
2018
8
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India. ( 29439679 )
2018
9
Probing the Protein-Protein Interaction Network of Proteins Causing Maturity Onset Diabetes of the Young. ( 29412996 )
2018
10
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation. ( 28925365 )
2017
11
Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data. ( 28012402 )
2017
12
Incremental cost-effectiveness of algorithm-driven genetic testing versus no testing for Maturity Onset Diabetes of the Young (MODY) in Singapore. ( 28835481 )
2017
13
Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing. ( 28555465 )
2017
14
Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10. ( 28992123 )
2017
15
Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients. ( 28663157 )
2017
16
Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India. ( 28095440 )
2017
17
Efficacy and safety of alogliptin in a pediatric patient with maturity-onset diabetes of the young type 1. ( 28804210 )
2017
18
A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY. ( 28987138 )
2017
19
A case of a novel mutation in HNF1I^-related maturity-onset diabetes of the young type 5 with diabetic kidney disease complication in a Chinese family. ( 28502589 )
2017
20
A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY. ( 28987137 )
2017
21
Use of oral antidiabetic drugs in the treatment of maturity-onset diabetes of the young: A mini review. ( 28840639 )
2017
22
A novel mutation in the hepatocyte nuclear factor-1I^ gene in maturity onset diabetes of the young 5 with multiple renal cysts and pancreas hypogenesis: A case report. ( 28912863 )
2017
23
An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY). ( 27935851 )
2017
24
Hepatocyte nuclear factor 1I^ maturity-onset diabetes of the young in a Chinese child presenting with hyperglycemic hyperosmolar state. ( 28593362 )
2017
25
Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention. ( 28453780 )
2017
26
A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY. ( 27852188 )
2016
27
Maturity onset diabetes of the young: Seek and you will find. ( 27323672 )
2016
28
Maturity onset diabetes of the young 5 accompanied by duodenal cysts. ( 26676964 )
2016
29
Studies of genetic variability of the hepatocyte nuclear factor-1I+ gene in an Indian maturity-onset diabetes of the young family. ( 27148439 )
2016
30
GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. ( 27256595 )
2016
31
Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for? ( 27103109 )
2016
32
Divergent phenotypes in siblings with identical novel mutations in the HNF-1I+ gene leading to maturity onset diabetes of the young type 3. ( 27142837 )
2016
33
ABCC8-Related Maturity-Onset Diabetes of the Young (MODY12): Clinical Features and Treatment Perspective. ( 27538677 )
2016
34
Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young. ( 27634015 )
2016
35
A Single Nucleotide Variant in HNF-1I^ is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family. ( 27114981 )
2016
36
Maturity-Onset Diabetes of the Young: A Genetic Form of Diabetes in Children. ( 27955956 )
2016
37
Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment. ( 27130141 )
2016
38
A three-step programmed method for the identification of causative gene mutations of maturity onset diabetes of the young (MODY). ( 27185633 )
2016
39
The complexity of elucidating whether novel mutations in the hepatocyte nuclear factor one alpha gene are responsible for maturity onset diabetes of the young in ethnic minorities. ( 26393317 )
2015
40
Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing. ( 26226118 )
2015
41
Characteristics of maturity onset diabetes of the young in a large diabetes center. ( 26059258 )
2015
42
Molecular and phenotypic characteristics of maturity-onset diabetes of the young compared with early onset type 2 diabetes in China. ( 25588466 )
2015
43
Maturity-onset diabetes of the young (MODY): an update. ( 25581748 )
2015
44
A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members. ( 25763774 )
2015
45
The clinical management of hyperglycemia in pregnancy complicated by maturity-onset diabetes of the young. ( 25935773 )
2015
46
Postprandial incretin and islet hormone responses and dipeptidyl-peptidase 4 enzymatic activity in patients with maturity onset diabetes of the young. ( 25953829 )
2015
47
Hepatocyte nuclear factor 1I+-inactivated hepatocellular adenomatosis in a patient with maturity-onset diabetes of the young type 3: case report and literature review. ( 26346360 )
2015
48
Establishment of maturity-onset diabetes of the young-induced pluripotent stem cells from a Japanese patient. ( 26417411 )
2015
49
A novel nonsense mutation of the HNF1I+ in maturity-onset diabetes of the young type 3 in Asian population. ( 26050565 )
2015
50
A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2. ( 25921421 )
2015

Variations for Maturity-Onset Diabetes of the Young

Expression for Maturity-Onset Diabetes of the Young

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young.

Pathways for Maturity-Onset Diabetes of the Young

Pathways related to Maturity-Onset Diabetes of the Young according to KEGG:

36
# Name Kegg Source Accession
1 Maturity onset diabetes of the young hsa04950
2 Type II diabetes mellitus hsa04930
3 Insulin signaling pathway hsa04910

Pathways related to Maturity-Onset Diabetes of the Young according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 FOXA2 GCK HNF1A HNF1B HNF4A INS
2
Show member pathways
12.61 ABCC8 GCK INS KCNJ11 PDX1 SLC2A2
3 12.43 FOXA2 GCKR HNF1A HNF4A INS NEUROD1
4
Show member pathways
12.19 ABCC8 INS KCNJ11 PKLR SLC2A2
5 12.1 FOXA2 HNF1B INS NEUROD1 NEUROG3 NKX2-2
6
Show member pathways
12 FOXA2 GCK HNF1A HNF1B HNF4A INS
7
Show member pathways
11.97 FOXA2 GCK HNF1A HNF1B HNF4A INS
8
Show member pathways
11.69 GCK GCKR SLC2A2
9
Show member pathways
11.68 ABCC8 GCK HNF1A HNF1B HNF4A INS
10 11.13 FOXA2 NEUROD1 NKX2-2
11 10.97 ABCC8 FOXA2 GCK HNF1A HNF4A INS
12 10.73 INS SLC2A2
13 10.4 HNF1A HNF4A

GO Terms for Maturity-Onset Diabetes of the Young

Cellular components related to Maturity-Onset Diabetes of the Young according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.65 FOXA2 GCK GCKR HNF1B HNF4A KLF11
2 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

Biological processes related to Maturity-Onset Diabetes of the Young according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 ABCC8 HNF1B KCNJ11 NEUROD1 PAX4
2 carbohydrate metabolic process GO:0005975 9.89 GCK GCKR INS PKLR SLC2A2
3 positive regulation of DNA binding transcription factor activity GO:0051091 9.82 NEUROD1 NEUROG3 NKX2-2
4 liver development GO:0001889 9.8 HNF1A HNF1B PDX1
5 positive regulation of neuron differentiation GO:0045666 9.79 NEUROD1 NEUROG3 NKX2-2
6 glucose homeostasis GO:0042593 9.73 GCK HNF1A HNF4A INS NEUROD1 PDX1
7 positive regulation of cell differentiation GO:0045597 9.72 INS NEUROD1 NEUROG3 NKX2-2 PAX4
8 glucose metabolic process GO:0006006 9.71 GCK INS KCNJ11 PDX1
9 insulin secretion GO:0030073 9.67 HNF1A HNF1B NEUROD1 PDX1
10 signal transduction involved in regulation of gene expression GO:0023019 9.66 HNF4A NEUROD1
11 response to ATP GO:0033198 9.65 KCNJ11 PKLR
12 nitric oxide mediated signal transduction GO:0007263 9.65 NEUROD1 PDX1
13 regulation of protein localization to plasma membrane GO:1903076 9.64 APPL1 INS
14 positive regulation of glycogen biosynthetic process GO:0045725 9.63 GCK INS
15 negative regulation of gluconeogenesis GO:0045721 9.63 GCK INS
16 hindbrain development GO:0030902 9.63 HNF1B NEUROD1 NEUROG3
17 response to glucose GO:0009749 9.63 HNF1A HNF1B HNF4A NEUROD1 NKX2-2 PKLR
18 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.61 HNF1A HNF1B
19 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.61 NEUROD1 PDX1
20 cellular glucose homeostasis GO:0001678 9.61 ABCC8 GCK GCKR
21 negative regulation of glucokinase activity GO:0033132 9.58 FOXA2 GCKR
22 detection of glucose GO:0051594 9.56 GCK PDX1
23 pancreatic PP cell fate commitment GO:0003329 9.54 NEUROD1 NKX2-2
24 pancreatic A cell fate commitment GO:0003326 9.52 NEUROD1 NKX2-2
25 regulation of pronephros size GO:0035565 9.51 HNF1A HNF1B
26 regulation of insulin secretion GO:0050796 9.5 ABCC8 GCK HNF1A HNF4A KCNJ11 NEUROD1
27 endocrine pancreas development GO:0031018 9.17 FOXA2 HNF1A NEUROD1 NEUROG3 NKX2-2 PAX4
28 transcription, DNA-templated GO:0006351 10.29 FOXA2 HNF1A HNF1B HNF4A KLF11 NEUROD1
29 regulation of transcription, DNA-templated GO:0006355 10.29 FOXA2 HNF1A HNF1B HNF4A INS KLF11
30 cell differentiation GO:0030154 10.11 BLK NEUROD1 NEUROG3 NKX2-2 PAX4 PDX1
31 transcription by RNA polymerase II GO:0006366 10.08 HNF1A HNF4A KLF11 NEUROD1 NEUROG3 PDX1
32 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 FOXA2 HNF1A HNF1B HNF4A NEUROD1 NEUROG3
33 positive regulation of transcription, DNA-templated GO:0045893 10.05 FOXA2 HNF1A HNF1B HNF4A NEUROD1 PDX1

Molecular functions related to Maturity-Onset Diabetes of the Young according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 FOXA2 HNF1A HNF4A NEUROG3 PDX1
2 transcription factor binding GO:0008134 9.78 FOXA2 HNF1A NEUROD1 NKX2-2
3 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.73 HNF1A HNF4A NEUROD1 NEUROG3
4 DNA binding transcription factor activity GO:0003700 9.61 FOXA2 HNF1A HNF1B HNF4A KLF11 NEUROD1
5 double-stranded DNA binding GO:0003690 9.56 HNF1A NEUROD1 NEUROG3 PAX4
6 transcription regulatory region DNA binding GO:0044212 9.55 FOXA2 HNF1A HNF1B HNF4A KLF11
7 potassium ion binding GO:0030955 9.46 KCNJ11 PKLR
8 ATP-activated inward rectifier potassium channel activity GO:0015272 9.37 ABCC8 KCNJ11
9 sequence-specific DNA binding GO:0043565 9.23 FOXA2 HNF1A HNF1B HNF4A NEUROD1 NKX2-2
10 DNA binding GO:0003677 10.02 FOXA2 HNF1A HNF1B HNF4A KLF11 NEUROD1

Sources for Maturity-Onset Diabetes of the Young

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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