MODY
MCID: MTR004
MIFTS: 60

Maturity-Onset Diabetes of the Young (MODY)

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare 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 57 12 24 53 59 15
Mody 57 12 24 53 59
Maturity Onset Diabetes Mellitus in Young 29 6 73
Maturity Onset Diabetes of the Young 76 37
Mason-Type Diabetes 57 12
Mason Type Diabetes 53
Mody Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
mody
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 606391
Disease Ontology 12 DOID:0050524
ICD10 33 E11.8
Orphanet 59 ORPHA552
ICD10 via Orphanet 34 E11.9
UMLS via Orphanet 74 C0342276
MedGen 42 C0342276
KEGG 37 H00410
UMLS 73 C0342276

Summaries for Maturity-Onset Diabetes of the Young

NIH Rare Diseases : 53 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.

MalaCards based summary : Maturity-Onset Diabetes of the Young, also known as mody, is related to maturity-onset diabetes of the young, type 8, with exocrine dysfunction and maturity-onset diabetes of the young, type 9. An important gene associated with Maturity-Onset Diabetes of the Young is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are Maturity onset diabetes of the young and Type II diabetes mellitus. The drugs Metformin and Sitagliptin Phosphate have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and kidney, and related phenotypes are Decreased viability and Decreased viability

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

OMIM : 57 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 : 76 "Maturity onset diabetes of the young" (MODY) refers to any of several hereditary forms of diabetes... more...

GeneReviews: NBK500456

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 80)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 35.1 CEL HNF4A
2 maturity-onset diabetes of the young, type 9 35.1 INS PAX4
3 maturity-onset diabetes of the young, type 2 35.0 GCK HNF1A HNF1B HNF4A INS PDX1
4 maturity-onset diabetes of the young, type 3 35.0 GCK HNF1A HNF1B HNF4A INS NEUROD1
5 maturity-onset diabetes of the young, type 4 34.9 GCK HNF1A HNF1B HNF4A PDX1
6 maturity-onset diabetes of the young, type 7 34.8 GCK HNF1A HNF1B HNF4A INS KLF11
7 maturity-onset diabetes of the young, type 6 34.8 CEL GCK HNF1A HNF1B HNF4A INS
8 maturity-onset diabetes of the young, type 10 34.7 INS KCNJ11
9 maturity-onset diabetes of the young, type 14 34.5 ABCC8 APPL1 GCK HNF1A
10 maturity-onset diabetes of the young, type 13 34.4 ABCC8 BLK GCK HNF1A HNF4A INS
11 maturity-onset diabetes of the young, type 1 34.4 ABCC8 GCK HNF1A HNF1B HNF4A INS
12 renal cysts and diabetes syndrome 34.3 GCK HNF1A HNF1B HNF4A NEUROD1 PDX1
13 diabetes mellitus, transient neonatal, 1 31.9 ABCC8 INS KCNJ11
14 diabetes mellitus, permanent neonatal 31.8 ABCC8 GCK INS KCNJ11 NEUROG3 PDX1
15 hypoglycemia 30.7 ABCC8 GCK INS KCNJ11
16 diabetes mellitus 30.6 ABCC8 GCK HNF1A HNF1B HNF4A INS
17 monogenic diabetes 30.4 ABCC8 CEL GCK HNF1A HNF4A INS
18 gestational diabetes 30.4 GCK HNF4A INS KCNJ11
19 diabetes mellitus, insulin-dependent 30.4 GCK HNF1A INS NEUROD1 PAX4 PDX1
20 hyperinsulinemic hypoglycemia 30.3 ABCC8 GCK HNF4A INS KCNJ11
21 hyperinsulinism 30.2 ABCC8 GCK HNF4A INS KCNJ11
22 hyperglycemia 30.1 ABCC8 GCK HNF1A INS KCNJ11 PDX1
23 acute insulin response 30.1 ABCC8 INS KCNJ11
24 pancreatic agenesis 30.1 ABCC8 GCK INS KCNJ11 PDX1
25 diabetes mellitus, noninsulin-dependent 30.1 ABCC8 FOXA2 GCK GCKR HNF1A HNF1B
26 neonatal diabetes mellitus 29.9 ABCC8 GCK HNF1B INS KCNJ11 KLF11
27 maturity-onset diabetes of the young, type 11 12.9
28 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 12.9
29 hyperinsulinemic hypoglycemia, familial, 3 11.6
30 17q12 deletion syndrome 11.2
31 autosomal genetic disease 10.3 GCK HNF1A INS
32 pancreatic cystadenoma 10.3 INS PDX1 SLC2A2
33 diarrhea 4, malabsorptive, congenital 10.3 NEUROD1 NEUROG3
34 type 1 diabetes mellitus 7 10.3 INS NEUROD1
35 type 1 diabetes mellitus 11 10.2 HNF1A INS
36 kidney disease 10.1
37 blood group--swann system 10.1
38 scoliosis 10.1
39 munchausen by proxy 10.1 ABCC8 GCK KCNJ11
40 pancreas disease 10.1 ABCC8 INS KCNJ11
41 cardiomyopathy, dilated, 1o 10.0 ABCC8 KCNJ11
42 endocrine pancreas disease 10.0 ABCC8 GCK INS KCNJ11
43 fanconi-bickel syndrome 10.0 ABCC8 INS SLC2A2
44 thiamine-responsive megaloblastic anemia syndrome 10.0 ABCC8 INS KCNJ11
45 glucose metabolism disease 10.0 ABCC8 GCK INS KCNJ11 SLC2A2
46 insulinoma 10.0 ABCC8 GCK INS PDX1 SLC2A2
47 acquired metabolic disease 10.0 ABCC8 GCK INS KCNJ11 SLC2A2
48 hirata disease 10.0 ABCC8 INS
49 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 ABCC8 KCNJ11
50 colorectal cancer 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:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.62 SLC2A2
2 Decreased viability GR00221-A-1 10.62 GCK GCKR PKLR
3 Decreased viability GR00221-A-2 10.62 GCK PKLR
4 Decreased viability GR00221-A-3 10.62 APPL1 GCK
5 Decreased viability GR00221-A-4 10.62 APPL1 BLK GCK GCKR PKLR
6 Decreased viability GR00231-A 10.62 GCK
7 Decreased viability GR00301-A 10.62 PKLR
8 Decreased viability GR00342-S-3 10.62 PKLR
9 Decreased viability GR00381-A-1 10.62 APPL1
10 Decreased viability GR00402-S-2 10.62 ABCC8 APPL1 BLK CEL FOXA2 GCK
11 no effect GR00402-S-1 9.96 ABCC8 APPL1 BLK CEL FOXA2 GCK
12 Decreased free cholesterol GR00340-A-2 9.43 GCKR HNF1A HNF4A
13 shRNA abundance <= 50% GR00343-S 9.32 BLK CEL GCK HNF1A HNF4A KCNJ11

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

46 (show all 12)
# 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 ABCC8 BLK FOXA2 GCK HNF1A HNF1B
4 mortality/aging MP:0010768 10.2 APPL1 FOXA2 GCK HNF1A HNF1B HNF4A
5 cellular MP:0005384 10.19 APPL1 FOXA2 HNF1A HNF4A INS NEUROD1
6 adipose tissue MP:0005375 10.05 APPL1 CEL FOXA2 HNF1A INS KCNJ11
7 digestive/alimentary MP:0005381 10.02 CEL FOXA2 HNF1A INS NEUROD1 NEUROG3
8 liver/biliary system MP:0005370 10.02 CEL FOXA2 GCK HNF1A HNF1B HNF4A
9 muscle MP:0005369 9.8 APPL1 HNF1A HNF1B INS KCNJ11 PDX1
10 no phenotypic analysis MP:0003012 9.7 ABCC8 APPL1 HNF1A INS KCNJ11 NEUROG3
11 normal MP:0002873 9.65 BLK FOXA2 HNF4A INS KLF11 NEUROG3
12 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 170)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
2 Sitagliptin Phosphate Phase 4
3 Dipeptidyl-Peptidase IV Inhibitors Phase 4
4 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Hematinics Phase 4
6 Epoetin alfa Phase 4 113427-24-0
7 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
8
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
9
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
10
Paclitaxel Approved, Vet_approved Phase 3,Phase 1 33069-62-4 36314
11
Polyestradiol phosphate Approved Phase 3 28014-46-2
12
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
13
Glimepiride Approved Phase 2, Phase 3,Not Applicable 93479-97-1 3476
14
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
15
Exenatide Approved, Investigational Phase 3 141758-74-9 15991534
16
Bimatoprost Approved, Investigational Phase 3 155206-00-1 5311027
17
Timolol Approved Phase 3 26839-75-8 33624 5478
18
Treprostinil Approved, Investigational Phase 3 81846-19-7 54786 6918140
19
Ursodeoxycholic acid Approved, Investigational Phase 3 128-13-2 31401
20
chenodeoxycholic acid Approved Phase 3 474-25-9 10133
21
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
22
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
23 Albumin-Bound Paclitaxel Phase 3,Phase 1
24 Antineoplastic Agents, Phytogenic Phase 3,Phase 1
25 Antimitotic Agents Phase 3,Phase 1
26 Estradiol 3-benzoate Phase 3
27 Estradiol 17 beta-cypionate Phase 3
28 Hormone Antagonists Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
29 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
30 Incretins Phase 2, Phase 3,Phase 3,Not Applicable
31 Anti-Arrhythmia Agents Phase 2, Phase 3,Phase 3,Not Applicable
32 Hormones Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
33 Immunologic Factors Phase 2, Phase 3,Phase 1,Not Applicable
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
35 Glucagon-Like Peptide 1 Phase 2, Phase 3,Phase 1,Not Applicable
36 Trace Elements Phase 3,Phase 1
37 Ergocalciferols Phase 3
38 Calciferol Phase 3
39 Micronutrients Phase 3,Phase 1
40 Bone Density Conservation Agents Phase 3
41 Vitamin D2 Phase 3
42 Vitamins Phase 3,Phase 1
43 Calcium, Dietary Phase 3
44 Neurotransmitter Agents Phase 3,Phase 1
45 Antihypertensive Agents Phase 3
46 Adrenergic Agents Phase 3
47 Adrenergic beta-Antagonists Phase 3
48 Adrenergic Antagonists Phase 3
49 Adrenergic alpha-2 Receptor Agonists Phase 3
50 Adrenergic alpha-Agonists Phase 3

Interventional clinical trials:

(show top 50) (show all 73)
# 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 A Study of Methoxy Polyethylene Glycol-Epoetin Beta (Mircera) for the Treatment of Chronic Renal Anemia in Participants With Diabetic Nephropathy Completed NCT01191983 Phase 4 Methoxy polyethylene glycol-epoetin beta [Mircera]
3 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
4 The Effects of GLP-1 in Maturity-Onset Diabetes of The Young (MODY) Completed NCT01610934 Phase 2, Phase 3 liraglutide;Glimepiride
5 Efficacy of Foot Orthotics in Veterans With Chronic Lower Back Pain Terminated NCT01865539 Phase 2, Phase 3
6 A Study to Evaluate the Efficacy and Safety of Nanosomal Docetaxel Lipid Suspension in Triple Negative Breast Cancer Patients Recruiting NCT03671044 Phase 3 Nanosomal Docetaxel Lipid Suspension (75 mg/m2);Nanosomal Docetaxel Lipid Suspension (100 mg/m2);Taxotere® (100 mg/m2)
7 Safety and Efficacy of OSTEOFORM (rhPTH [1-34]) in Increasing Bone Mineral Density in Osteoporosis Completed NCT00500409 Phase 3 Osteoform;SHELCAL
8 Extension Study for 2993-112 Completed NCT01789957 Phase 3 AC2993
9 Safety and Efficacy of Bimatoprost Sustained-Release (SR) in Patients With Open-Angle Glaucoma or Ocular Hypertension Active, not recruiting NCT02250651 Phase 3 Bimatoprost sustained-release;Timolol;Timolol Vehicle (placebo)
10 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
11 Evaluation of Safety and Efficacy of Brimonidine Tartrate Ophthalmic Suspension Recruiting NCT03450629 Phase 3 Brimonidine Tartrate Ophthalmic Suspension;Brimonidine Tartrate Ophthalmic Solution
12 An Open-Label, Long-Term Study of Oral Treprostinil in Subjects With Pulmonary Arterial Hypertension Recruiting NCT01560637 Phase 3 UT-15C (treprostinil diethanolamine)
13 Seladelpar in Subjects With Primary Biliary Cholangitis (PBC) and an Inadequate Response to or an Intolerance to Ursodeoxycholic Acid (UDCA) Recruiting NCT03602560 Phase 3 seladelpar 5-10 mg;seladelpar 10 mg;Placebo
14 Randomized Global Phase 3 Study to Evaluate the Impact on NASH With Fibrosis of Obeticholic Acid Treatment Recruiting NCT02548351 Phase 3 Obeticholic Acid;Placebo
15 Safety and Efficacy Study of TRC150094 to Improve the CV Risk in Subjects With Diabetes, Dyslipidemia and Hypertension Recruiting NCT03254446 Phase 3 TRC150094;Placebo
16 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
17 Clinical Trial of YH14618 in Patients With Degenerative Disc Disease Completed NCT02320019 Phase 2 Placebo;YH14618
18 Epilepsy Adherence in Children and Technology (eACT) Not yet recruiting NCT03817229 Phase 2
19 Open-label Study of STA-9090 for Patients With Metastatic Breast Cancer Completed NCT01273896 Phase 2 STA-9090
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 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
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 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
25 Naive T Cell Depletion for Preventing Chronic Graft-versus-Host Disease in Children and Young Adults With Blood Cancers Undergoing Donor Stem Cell Transplant Not yet recruiting NCT03779854 Phase 2 Thiotepa;Fludarabine;Cyclophosphamide;Busulfan;Tacrolimus;Methotrexate
26 ProSTAR: A Study Evaluating CPI-1205 in Patients With Metastatic Castration Resistant Prostate Cancer Recruiting NCT03480646 Phase 1, Phase 2 CPI-1205;Enzalutamide;Abiraterone/Prednisone
27 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
28 A Study of Experimental Medication BMS-986036 in Adults With Nonalcoholic Steatohepatitis (NASH) and Liver Cirrhosis Recruiting NCT03486912 Phase 2 BMS-986036
29 A Study of Experimental Medication BMS-986036 in Adults With Nonalcoholic Steatohepatitis (NASH) and Stage 3 Liver Fibrosis Recruiting NCT03486899 Phase 2 BMS-986036
30 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
31 Comparing the Use of Vitamin c (Ascorbic Acid) in Eye Burn in Subconjunctival Injection to Topical or Oral Treatment. Withdrawn NCT00734695 Phase 1
32 PU-H71 With Nab-paclitaxel (Abraxane) in Metastatic Breast Cancer Active, not recruiting NCT03166085 Phase 1 PU-H71;Nab-paclitaxel
33 Open-Label Study Evaluating the Safety and Tolerability of LJM716, BYL719 and Trastuzumab in Patients With Metastatic HER2+ Breast Cancer Active, not recruiting NCT02167854 Phase 1 BYL719;LJM716;TRASTUZUMAB
34 Ganetespib, Paclitaxel, Trastuzumab and Pertuzumab for Metastatic Human Epidermal Growth Factor Receptor 2 Positive Breast Cancer Completed NCT02060253 Phase 1 ganetespib;paclitaxel
35 Bioequivalence Study of Zafirlukast Tablets 20 mg of Dr. Reddy's Laboratories Limited Under Fasting Condition Completed NCT01283061 Phase 1 Zafirlukast
36 Bioavailability Study of Anastrozole Tablets 1 mg of Dr.Reddy's Under Fed Conditions Completed NCT01155960 Phase 1 Anastrozole
37 Bioavailability Study of Duloxetine Delayed-Relase Capsules 60 mg Under Fed Condition Completed NCT02291341 Phase 1 Duloxetine;Cymbalta®
38 Bioequivalence Study of Eszopiclone Tablets, 3 mg Under Fed Conditions Completed NCT02322658 Phase 1 Eszopiclone Tablets 3 mg
39 Bioequivalence Study of Eszopiclone Tablets, 3 mg Under Fasting Conditions Completed NCT02322645 Phase 1 Eszopiclone Tablets 3 mg
40 T-Cell Therapy for Advanced Breast Cancer Recruiting NCT02792114 Phase 1 Cyclophosphamide;AP1903
41 A Study of Doxorubicin Hydrochloride Liposome Injection in Subjects With Ovarian Cancer. Recruiting NCT03681548 Phase 1 Doxorubicin Hydrochloride Liposome Injection
42 Enteral L Citrulline Supplementation in Preterm Infants - Safety, Efficacy and Dosing Recruiting NCT03649932 Phase 1
43 A Safety Study of SGN-LIV1A in Breast Cancer Patients Recruiting NCT01969643 Phase 1 SGN-LIV1A;Trastuzumab
44 PREterM FOrmula Or Donor Breast Milk for Premature Babies Unknown status NCT01686477 Not Applicable
45 Pathophysiological Implications of the Incretin Hormones in Maturity Onset of Diabetes of the Young (MODY) Completed NCT01342939
46 The Effect of GIP and GLP-1 on Insulin and Glucagon Secretion in Patients With HNF1A-diabetes Treated With or Without Sulphonylurea Completed NCT03081676 Not Applicable Glimepiride 1Mg Tablet;Glucagon-like Peptide-1;Glucose-Dependent Insulinotropic Polypeptide;Placebo Oral Tablet;Placebo infusion
47 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 Not Applicable
48 MODY in Young-onset Diabetes in Different Ethnicities Recruiting NCT02082132
49 Glucagon in MODY (Maturity Onset Diabetes of the Young) Recruiting NCT03246828 Not Applicable
50 Intra-discal Injection of PRP for Low Back Pain Recruiting NCT03712527 Not Applicable

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 29

Anatomical Context for Maturity-Onset Diabetes of the Young

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

41
Testes, Liver, Kidney, Pancreas, Bone, Thyroid, Uterus

Publications for Maturity-Onset Diabetes of the Young

Articles related to Maturity-Onset Diabetes of the Young:

(show top 50) (show all 488)
# Title Authors Year
1
Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY). ( 30182532 )
2019
2
Maturity-onset diabetes of the young (MODY) as a model for elucidating the multifactorial origin of type 2 diabetes mellitus. ( 29406598 )
2018
3
The unique clinical spectrum of maturity onset diabetes of the young type 3. ( 29107759 )
2018
4
Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family. ( 29726111 )
2018
5
A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5). ( 29491316 )
2018
6
A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms. ( 29633446 )
2018
7
Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes? ( 29355436 )
2018
8
Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY). ( 29510678 )
2018
9
Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations. ( 29408271 )
2018
10
Quantitative Evaluation of Serum Proteins Uncovers a Protein Signature Related to Maturity-Onset Diabetes of the Young (MODY). ( 29182332 )
2018
11
A Case of Maturity Onset Diabetes of the Young (MODY3) in a Family with a Novel HNF1A Gene Mutation in Five Generations. ( 29222740 )
2018
12
Maturity onset diabetes of the young due to <i>HNF1A</i> variants in Croatia. ( 29666556 )
2018
13
Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease. ( 29574432 )
2018
14
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. ( 29417725 )
2018
15
Probing the Protein-Protein Interaction Network of Proteins Causing Maturity Onset Diabetes of the Young. ( 29412996 )
2018
16
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India. ( 29439679 )
2018
17
Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives. ( 29867778 )
2018
18
Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus. ( 30481753 )
2018
19
Heterogeneity of gestational diabetes - Do we take MODY into consideration as much as we should? ( 30471321 )
2018
20
Should the Clinical Criteria for Suspecting Glucokinase Mutation-Related Hyperglycemia (MODY-2) Be Revisited During Pregnancy? ( 28843471 )
2018
21
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation. ( 29597128 )
2018
22
Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance. ( 29927023 )
2018
23
Traditional clinical criteria outperform high-sensitivity C-reactive protein for the screening of hepatic nuclear factor 1 alpha maturity-onset diabetes of the young among young Asians with diabetes. ( 30181854 )
2018
24
Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort. ( 30191644 )
2018
25
The importance of combined NGS and MLPA genetic tests for differential diagnosis of Maturity onset diabetes of the young. ( 30259503 )
2018
26
Screening of HNF1A and HNF4A mutation and clinical phenotype analysis in a large cohort of Chinese patients with maturity-onset diabetes of the young. ( 30293189 )
2018
27
In silico and in vitro analyses of the pathological relevance of the R258H mutation of hepatocyte nuclear factor 4α identified in MODY1. ( 30325586 )
2018
28
Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy. ( 30362177 )
2018
29
Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY). ( 30447144 )
2018
30
Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life. ( 30523035 )
2018
31
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes. ( 29183106 )
2018
32
Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry. ( 30535721 )
2018
33
Pancreatic adenocarcinoma, chronic pancreatitis, and MODY-8 diabetes: is bile salt-dependent lipase (or carboxyl ester lipase) at the crossroads of pancreatic pathologies? ( 29552330 )
2018
34
Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus. ( 30086370 )
2018
35
Unilateral renal agenesis and abrupt onset diabetes: an unfrequent form of MODY type diabetes. ( 29525113 )
2018
36
No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY. ( 29670293 )
2018
37
Changes of MODY signal pathway genes in the endoplasmic reticulum stress in INS-1-3 cells. ( 29879176 )
2018
38
The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY. ( 29895593 )
2018
39
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? ( 29948406 )
2018
40
An Atypical HNF4A Mutation Which Does Not Conform to the Classic Presentation of HNF4A-MODY. ( 29998026 )
2018
41
COL4A3 Gene Variants and Diabetic Kidney Disease in MODY. ( 30012629 )
2018
42
Hidden MODY-Looking for a Needle in a Haystack. ( 30013516 )
2018
43
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin. ( 30229274 )
2018
44
Insights into pathogenesis of five novel GCK mutations identified in Chinese MODY patients. ( 30257192 )
2018
45
Pregnancy Complicated by Maternal MODY 3 and Paternal MODY 2 Diabetes and Subsequent Rapidly Falling Insulin Requirement. ( 30356406 )
2018
46
Autoantibodies against ZnT8 are rare in Central-European LADA patients and absent in MODY patients, including those positive for other autoantibodies. ( 30377089 )
2018
47
Quality of life assessment in patients with HNF1A-MODY and GCK-MODY. ( 30421137 )
2018
48
Plasma Fucosylated Glycans and C-Reactive Protein As Biomarkers of HNF1A-MODY in Young Adult-Onset Nonautoimmune Diabetes. ( 30455330 )
2018
49
Frequency and characteristics of MODY 1 (HNF4A mutation) and MODY 5 (HNF1B mutation) - Analysis from the DPV database. ( 30535056 )
2018
50
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

Variations for Maturity-Onset Diabetes of the Young

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young:

6 (show top 50) (show all 863)
# Gene Variation Type Significance SNP ID Assembly Location
1 KLF11 NM_003597.4(KLF11): c.659C> T (p.Thr220Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34336420 GRCh37 Chromosome 2, 10188123: 10188123
2 KLF11 NM_003597.4(KLF11): c.659C> T (p.Thr220Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34336420 GRCh38 Chromosome 2, 10047996: 10047996
3 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
4 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh38 Chromosome 11, 17388025: 17388025
5 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh37 Chromosome 13, 28494501: 28494501
6 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh38 Chromosome 13, 27920364: 27920364
7 BLK NM_001715.2(BLK): c.211G> A (p.Ala71Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs55758736 GRCh37 Chromosome 8, 11405576: 11405576
8 BLK NM_001715.2(BLK): c.211G> A (p.Ala71Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs55758736 GRCh38 Chromosome 8, 11548067: 11548067
9 BLK NM_001715.2(BLK): c.*338T> G single nucleotide variant Likely benign rs1042695 GRCh38 Chromosome 8, 11564446: 11564446
10 BLK NM_001715.2(BLK): c.*338T> G single nucleotide variant Likely benign rs1042695 NCBI36 Chromosome 8, 11459364: 11459364
11 BLK NM_001715.2(BLK): c.*338T> G single nucleotide variant Likely benign rs1042695 GRCh37 Chromosome 8, 11421955: 11421955
12 PAX4 NM_006193.2(PAX4): c.397C> T (p.Arg133Trp) single nucleotide variant risk factor rs2233578 GRCh37 Chromosome 7, 127254551: 127254551
13 PAX4 NM_006193.2(PAX4): c.397C> T (p.Arg133Trp) single nucleotide variant risk factor rs2233578 GRCh38 Chromosome 7, 127614497: 127614497
14 HNF1A NM_000545.6(HNF1A): c.79A> C (p.Ile27Leu) single nucleotide variant Benign rs1169288 GRCh37 Chromosome 12, 121416650: 121416650
15 HNF1A NM_000545.6(HNF1A): c.79A> C (p.Ile27Leu) single nucleotide variant Benign rs1169288 GRCh38 Chromosome 12, 120978847: 120978847
16 GCK NM_000162.3(GCK): c.208+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs77440690 GRCh37 Chromosome 7, 44192889: 44192889
17 GCK NM_000162.3(GCK): c.208+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs77440690 GRCh38 Chromosome 7, 44153290: 44153290
18 GCK NM_000162.3(GCK): c.209-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144798843 GRCh37 Chromosome 7, 44192032: 44192032
19 GCK NM_000162.3(GCK): c.209-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144798843 GRCh38 Chromosome 7, 44152433: 44152433
20 GCK NM_000162.3(GCK): c.339C> T (p.Asp113=) single nucleotide variant Benign/Likely benign rs149412035 GRCh37 Chromosome 7, 44191894: 44191894
21 GCK NM_000162.3(GCK): c.339C> T (p.Asp113=) single nucleotide variant Benign/Likely benign rs149412035 GRCh38 Chromosome 7, 44152295: 44152295
22 GCK NM_000162.3(GCK): c.46-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs142829768 GRCh37 Chromosome 7, 44193074: 44193074
23 GCK NM_000162.3(GCK): c.46-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs142829768 GRCh38 Chromosome 7, 44153475: 44153475
24 GCK NM_000162.3(GCK): c.618G> A (p.Thr206=) single nucleotide variant Benign/Likely benign rs142817246 GRCh37 Chromosome 7, 44189420: 44189420
25 GCK NM_000162.3(GCK): c.618G> A (p.Thr206=) single nucleotide variant Benign/Likely benign rs142817246 GRCh38 Chromosome 7, 44149821: 44149821
26 HNF4A NM_000457.4(HNF4A): c.150G> A (p.Ala50=) single nucleotide variant Conflicting interpretations of pathogenicity rs41282026 GRCh37 Chromosome 20, 43034732: 43034732
27 HNF4A NM_000457.4(HNF4A): c.150G> A (p.Ala50=) single nucleotide variant Conflicting interpretations of pathogenicity rs41282026 GRCh38 Chromosome 20, 44406092: 44406092
28 HNF4A NM_000457.4(HNF4A): c.459T> C (p.Asn153=) single nucleotide variant Benign/Likely benign rs113308087 GRCh37 Chromosome 20, 43042407: 43042407
29 HNF4A NM_000457.4(HNF4A): c.459T> C (p.Asn153=) single nucleotide variant Benign/Likely benign rs113308087 GRCh38 Chromosome 20, 44413767: 44413767
30 HNF4A NM_000457.4(HNF4A): c.505G> A (p.Val169Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142204928 GRCh37 Chromosome 20, 43043159: 43043159
31 HNF4A NM_000457.4(HNF4A): c.505G> A (p.Val169Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142204928 GRCh38 Chromosome 20, 44414519: 44414519
32 INS; INS-IGF2; TH NM_000207.2(INS): c.-9C> T single nucleotide variant Benign/Likely benign rs5505 GRCh37 Chromosome 11, 2182210: 2182210
33 INS; INS-IGF2; TH NM_000207.2(INS): c.-9C> T single nucleotide variant Benign/Likely benign rs5505 GRCh38 Chromosome 11, 2160980: 2160980
34 KCNJ11 NM_000525.3(KCNJ11): c.1154C> G (p.Ser385Cys) single nucleotide variant Benign/Likely benign rs41282930 GRCh37 Chromosome 11, 17408485: 17408485
35 KCNJ11 NM_000525.3(KCNJ11): c.1154C> G (p.Ser385Cys) single nucleotide variant Benign/Likely benign rs41282930 GRCh38 Chromosome 11, 17386938: 17386938
36 HNF1A NM_000545.6(HNF1A): c.1107+9C> G single nucleotide variant Likely benign rs17847497 GRCh37 Chromosome 12, 121434225: 121434225
37 HNF1A NM_000545.6(HNF1A): c.1107+9C> G single nucleotide variant Likely benign rs17847497 GRCh38 Chromosome 12, 120996422: 120996422
38 HNF1A NM_000545.6(HNF1A): c.1310-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922579 GRCh37 Chromosome 12, 121435265: 121435265
39 HNF1A NM_000545.6(HNF1A): c.1310-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922579 GRCh38 Chromosome 12, 120997462: 120997462
40 HNF1A NM_000545.6(HNF1A): c.1539C> T (p.Thr513=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922584 GRCh37 Chromosome 12, 121437108: 121437108
41 HNF1A NM_000545.6(HNF1A): c.1539C> T (p.Thr513=) single nucleotide variant Conflicting interpretations of pathogenicity rs193922584 GRCh38 Chromosome 12, 120999305: 120999305
42 BLK NM_001715.2(BLK): c.102C> T (p.Asp34=) single nucleotide variant Benign/Likely benign rs75383960 GRCh37 Chromosome 8, 11400835: 11400835
43 BLK NM_001715.2(BLK): c.102C> T (p.Asp34=) single nucleotide variant Benign/Likely benign rs75383960 GRCh38 Chromosome 8, 11543326: 11543326
44 BLK NM_001715.2(BLK): c.258G> A (p.Gln86=) single nucleotide variant Benign/Likely benign rs56185487 GRCh37 Chromosome 8, 11405623: 11405623
45 BLK NM_001715.2(BLK): c.258G> A (p.Gln86=) single nucleotide variant Benign/Likely benign rs56185487 GRCh38 Chromosome 8, 11548114: 11548114
46 BLK NM_001715.2(BLK): c.330T> C (p.Ser110=) single nucleotide variant Benign rs3816668 GRCh37 Chromosome 8, 11406593: 11406593
47 BLK NM_001715.2(BLK): c.330T> C (p.Ser110=) single nucleotide variant Benign rs3816668 GRCh38 Chromosome 8, 11549084: 11549084
48 BLK NM_001715.2(BLK): c.435C> T (p.Ala145=) single nucleotide variant Likely benign rs7836533 GRCh37 Chromosome 8, 11407734: 11407734
49 BLK NM_001715.2(BLK): c.435C> T (p.Ala145=) single nucleotide variant Likely benign rs7836533 GRCh38 Chromosome 8, 11550225: 11550225
50 BLK NM_001715.2(BLK): c.843T> C (p.Phe281=) single nucleotide variant Benign rs2306234 GRCh37 Chromosome 8, 11414237: 11414237

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:

37
# 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 12.44 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 36)
# 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 9.83 NEUROD1 NEUROG3 NKX2-2
4 positive regulation of neuron differentiation GO:0045666 9.81 NEUROD1 NEUROG3 NKX2-2
5 liver development GO:0001889 9.8 HNF1A HNF1B PDX1
6 glucose metabolic process GO:0006006 9.73 GCK INS KCNJ11 PDX1
7 glucose homeostasis GO:0042593 9.73 GCK HNF1A HNF4A INS NEUROD1 PDX1
8 positive regulation of cell differentiation GO:0045597 9.72 INS NEUROD1 NEUROG3 NKX2-2 PAX4
9 insulin secretion GO:0030073 9.71 HNF1A HNF1B NEUROD1 PDX1
10 signal transduction involved in regulation of gene expression GO:0023019 9.67 HNF4A NEUROD1
11 response to ATP GO:0033198 9.67 KCNJ11 PKLR
12 pancreas development GO:0031016 9.67 HNF1A HNF1B PAX4 PDX1
13 nitric oxide mediated signal transduction GO:0007263 9.66 NEUROD1 PDX1
14 positive regulation of glycogen biosynthetic process GO:0045725 9.65 GCK INS
15 negative regulation of gluconeogenesis GO:0045721 9.65 GCK INS
16 regulation of protein localization to plasma membrane GO:1903076 9.65 APPL1 INS
17 hindbrain development GO:0030902 9.65 HNF1B NEUROD1 NEUROG3
18 hepatocyte differentiation GO:0070365 9.64 HNF1B HNF4A
19 type B pancreatic cell development GO:0003323 9.64 HNF4A NKX2-2
20 cellular glucose homeostasis GO:0001678 9.63 ABCC8 GCK GCKR
21 response to glucose GO:0009749 9.63 HNF1A HNF1B HNF4A NEUROD1 NKX2-2 PKLR
22 regulation of glycolytic process GO:0006110 9.62 GCK GCKR
23 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.62 HNF1A HNF1B
24 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.61 NEUROD1 PDX1
25 negative regulation of glucokinase activity GO:0033132 9.61 FOXA2 GCKR
26 detection of glucose GO:0051594 9.57 GCK PDX1
27 pancreatic A cell fate commitment GO:0003326 9.56 NEUROD1 NKX2-2
28 pancreatic PP cell fate commitment GO:0003329 9.55 NEUROD1 NKX2-2
29 regulation of pronephros size GO:0035565 9.54 HNF1A HNF1B
30 regulation of insulin secretion GO:0050796 9.5 ABCC8 GCK HNF1A HNF4A KCNJ11 NEUROD1
31 endocrine pancreas development GO:0031018 9.17 FOXA2 HNF1A NEUROD1 NEUROG3 NKX2-2 PAX4
32 regulation of transcription, DNA-templated GO:0006355 10.16 FOXA2 HNF1A HNF4A INS NEUROD1 NEUROG3
33 cell differentiation GO:0030154 10.13 BLK FOXA2 NEUROD1 NEUROG3 NKX2-2 PAX4
34 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 FOXA2 HNF1A HNF1B HNF4A NEUROD1 NEUROG3
35 positive regulation of transcription, DNA-templated GO:0045893 10.08 FOXA2 HNF1A HNF1B HNF4A NEUROD1 PDX1
36 transcription by RNA polymerase II GO:0006366 10.07 HNF1A HNF4A KLF11 NEUROD1 NEUROG3 PDX1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 FOXA2 HNF1A HNF1B HNF4A KLF11 NEUROD1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.83 FOXA2 HNF1A HNF4A NEUROG3 PDX1
3 transcription factor binding GO:0008134 9.8 FOXA2 HNF1A NEUROD1 NKX2-2
4 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.78 HNF1A HNF4A NEUROD1 NEUROG3
5 double-stranded DNA binding GO:0003690 9.67 HNF1A NEUROD1 NEUROG3 PAX4
6 transcription regulatory region DNA binding GO:0044212 9.65 FOXA2 HNF1A HNF1B HNF4A KLF11
7 sequence-specific DNA binding GO:0043565 9.56 FOXA2 HNF1A HNF1B HNF4A NEUROD1 NKX2-2
8 potassium ion binding GO:0030955 9.46 KCNJ11 PKLR
9 ATP-activated inward rectifier potassium channel activity GO:0015272 9.4 ABCC8 KCNJ11
10 DNA-binding transcription factor activity GO:0003700 9.28 FOXA2 HNF1A HNF1B HNF4A KLF11 NEUROD1
11 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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