MODY1
MCID: MTR018
MIFTS: 63

Maturity-Onset Diabetes of the Young, Type 1 (MODY1)

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 1

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 1:

Name: Maturity-Onset Diabetes of the Young, Type 1 57 20 29 6 37 71
Mody1 57 12 20 73
Mild Juvenile Diabetes Mellitus 57 12 73
Mody Type 1 12 20 73
Maturity-Onset Diabetes of the Young Type 1 12 15
Diabetes Mellitus Type 2 12 74
Mody, Type I 57 13
Diabetes of the Young, Maturity-Onset, Type 1 39
Type 1 Maturity-Onset Diabetes of the Young 20
Maturity-Onset Diabetes of the Young 1 73
Diabetes Mellitus Mody Type 1 20
Mody Hnf4a Related 20
Mody, Type 1 57
Mody-1 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant (20q12-q13.1)


HPO:

31
maturity-onset diabetes of the young, type 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111099
OMIM® 57 125850
MeSH 44 D003924
MedGen 41 C1852093
SNOMED-CT via HPO 68 263681008 609561005
UMLS 71 C1852093

Summaries for Maturity-Onset Diabetes of the Young, Type 1

UniProtKB/Swiss-Prot : 73 Maturity-onset diabetes of the young 1: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 1, also known as mody1, is related to coronary heart disease 1 and angina pectoris. An important gene associated with Maturity-Onset Diabetes of the Young, Type 1 is HNF4A (Hepatocyte Nuclear Factor 4 Alpha), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. The drugs Oxymetazoline and Phenylephrine have been mentioned in the context of this disorder. Affiliated tissues include endothelial, liver and bone, and related phenotypes are maturity-onset diabetes of the young and flushing

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in mutation in the HNF4A gene on chromosome 20.

Wikipedia : 74 Type 2 diabetes (T2D), formerly known as adult-onset diabetes, is a form of diabetes that is... more...

More information from OMIM: 125850

Related Diseases for Maturity-Onset Diabetes of the Young, Type 1

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, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 365)
# Related Disease Score Top Affiliating Genes
1 coronary heart disease 1 31.0 INS CRP ADIPOQ
2 angina pectoris 30.8 INS CRP ADIPOQ
3 autonomic neuropathy 30.7 INS GCG ALB
4 fatty liver disease 30.6 PPARG LEP INS ADIPOQ
5 arteries, anomalies of 30.6 LEP INS CRP ALB ADIPOQ
6 lipid metabolism disorder 30.5 PPARG LEP INS HNF4A CRP ADIPOQ
7 intermediate coronary syndrome 30.4 INS DPP4 CRP
8 acute cystitis 30.4 INS DPP4 CRP ALB
9 acanthosis nigricans 30.4 PPARG LEP INS ADIPOQ
10 peripheral nervous system disease 30.3 PPARG INS GCG CRP ALB
11 epidural abscess 30.2 CRP ALB
12 monogenic diabetes 30.2 PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
13 generalized atherosclerosis 30.2 INS CRP ALB
14 congestive heart failure 30.2 INS CRP ALB ABCC8
15 chronic ulcer of skin 30.2 INS CRP ALB
16 end stage renal disease 30.1 LEP INS CRP ALB ADIPOQ
17 vascular disease 30.1 PPARG LEP INS CRP ALB ADIPOQ
18 lipoprotein quantitative trait locus 30.1 PPARG INS GCG CRP BLK ALB
19 atherosclerosis susceptibility 30.0 PPARG LEP INS CRP ALB ADIPOQ
20 cerebrovascular disease 30.0 LEP INS CRP ADIPOQ
21 arteriosclerosis 30.0 PPARG INS CRP ADIPOQ
22 eating disorder 30.0 LEP GCG ALB ADIPOQ
23 celiac disease 1 29.9 INS GCG DPP4 CRP ALB
24 substance abuse 29.9 INS CRP ALB
25 familial hyperlipidemia 29.9 PPARG LEP INS CRP ADIPOQ
26 acute insulin response 29.9 KCNJ11 INS GCG CRP ABCC8
27 abdominal obesity-metabolic syndrome 1 29.8 PPARG LEP INS GCK GCG ADIPOQ
28 sleep apnea 29.8 LEP INS CRP ALB ADIPOQ
29 hyperuricemia 29.8 PPARG LEP INS CRP ALB
30 myocardial infarction 29.8 PPARG PDX1 LEP INS DPP4 CRP
31 leptin deficiency or dysfunction 29.8 PPARG LEP INS GCG DPP4 CRP
32 proteasome-associated autoinflammatory syndrome 1 29.8 PPARG INS CRP ALB ADIPOQ
33 chronic kidney disease 29.7 PPARG LEP INS HNF1B GCG CRP
34 dental caries 29.6 SLC2A2 CRP ALB
35 heart disease 29.6 PPARG LEP KCNJ11 INS GCG CRP
36 cardiovascular system disease 29.6 PPARG LEP INS CRP ALB ADIPOQ
37 neonatal diabetes 29.5 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
38 hypoglycemia 29.5 SLC2A2 KCNJ11 INS GCK GCG DPP4
39 non-alcoholic fatty liver disease 29.5 PPARG LEP INS GCG DPP4 CRP
40 insulinoma 29.4 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1A
41 maturity-onset diabetes of the young, type 3 29.3 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
42 hypertension, essential 29.3 PPARG LEP KCNJ11 INS GCG DPP4
43 osteoporosis 29.3 PPARG LEP INS DPP4 CRP ALB
44 permanent neonatal diabetes mellitus 29.3 SLC2A2 PDX1 PAX4 NEUROD1 KCNJ11 INS
45 gestational diabetes 29.2 PPARG LEP KCNJ11 INS HNF4A HNF1A
46 maturity-onset diabetes of the young, type 2 29.0 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
47 type 1 diabetes mellitus 29.0 PDX1 PAX4 NEUROD1 LEP INS HNF4A
48 kidney disease 28.9 PPARG LEP INS HNF1B GCG DPP4
49 hyperinsulinism 28.9 PPARG LEP KCNJ11 INS HNF4A HNF1A
50 glucose intolerance 28.8 PPARG NEUROD1 LEP KCNJ11 INS HNF1A

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 1:



Diseases related to Maturity-Onset Diabetes of the Young, Type 1

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 1

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 1:

31
# Description HPO Frequency HPO Source Accession
1 maturity-onset diabetes of the young 31 HP:0004904
2 flushing 31 HP:0031284

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Endo:
diabetes mellitus

Misc:
early onset, mild and relatively uncomplicated course
chlorpropamide-alcohol flushing may be a marker for this form

Clinical features from OMIM®:

125850 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.33 ABCC8 ADIPOQ ALB BLK DPP4 GCK
2 homeostasis/metabolism MP:0005376 10.3 ABCC8 ADIPOQ ALB BLK CRP DPP4
3 cellular MP:0005384 10.25 ADIPOQ ALB DPP4 GCK HNF1A HNF1B
4 growth/size/body region MP:0005378 10.24 ABCC8 ADIPOQ DPP4 GCK HNF1A HNF1B
5 cardiovascular system MP:0005385 10.2 ADIPOQ ALB CRP DPP4 GCK HNF4A
6 mortality/aging MP:0010768 10.03 ADIPOQ ALB DPP4 GCK HNF1A HNF1B
7 liver/biliary system MP:0005370 10 ADIPOQ ALB GCK HNF1A HNF1B HNF4A
8 muscle MP:0005369 9.65 ADIPOQ ALB HNF1A HNF1B INS KCNJ11
9 renal/urinary system MP:0005367 9.36 ADIPOQ ALB GCK HNF1A HNF1B HNF4A

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 1

Drugs for Maturity-Onset Diabetes of the Young, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 798)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
2
Phenylephrine Approved Phase 4 59-42-7 6041
3
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
4
Eprosartan Approved Phase 4 133040-01-4 5281037
5
Petrolatum Approved, Investigational Phase 4 8009-03-8
6
Thrombin Approved, Investigational Phase 4
7
Fosinopril Approved Phase 4 98048-97-6 55891
8
Cilazapril Approved Phase 4 88768-40-5, 92077-78-6 56329 56330
9
Trandolapril Approved Phase 4 87679-37-6 5484727
10
Spirapril Approved Phase 4 83647-97-6 5311447
11
Zofenopril Approved Phase 4 81872-10-8
12
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 637568 5271565
13
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
14
Tocopherol Approved, Investigational Phase 4 1406-66-2
15
Acetaminophen Approved Phase 4 103-90-2 1983
16
Sodium citrate Approved, Investigational Phase 4 68-04-2
17
Glyburide Approved Phase 4 10238-21-8 3488
18
Simvastatin Approved Phase 4 79902-63-9 54454
19
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
20
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
21
Losartan Approved Phase 4 114798-26-4 3961
22
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
23
Tolbutamide Approved, Investigational Phase 4 64-77-7 5505
24
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
25
Iron Approved Phase 4 7439-89-6 23925 29936
26
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
27
Indapamide Approved Phase 4 26807-65-8 3702
28
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
29
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
30
Lacidipine Approved, Investigational Phase 4 103890-78-4
31
Ramipril Approved Phase 4 87333-19-5 5362129
32
Nitroprusside Approved, Investigational Phase 4 15078-28-1 11963622
33
Altretamine Approved Phase 4 645-05-6 2123
34 Strawberry Approved Phase 4
35
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
36
Gliquidone Approved, Investigational Phase 4 33342-05-1 91610
37
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
38
Cholecystokinin Approved, Investigational Phase 4 9011-97-6
39
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
40
Lactulose Approved Phase 4 4618-18-2 11333
41
Enalaprilat Approved Phase 4 76420-72-9 6917719
42
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
43
Clonidine Approved Phase 4 4205-90-7 2803
44
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
45
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
46
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
47
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
48
Bisoprolol Approved Phase 4 66722-44-9 2405
49 Ginger Approved Phase 4
50
Pramlintide Approved, Investigational Phase 4 151126-32-8

Interventional clinical trials:

(show top 50) (show all 6458)
# Name Status NCT ID Phase Drugs
1 Effect of Androgel on Inflammatory Mediators and Oxidative Stress in Type 2 Diabetic Males With Hypogonadism Unknown status NCT00350701 Phase 4 androgel;androgel 10g;placebo
2 A-One: A Randomized Controlled Trial Evaluating One Drop | Premium With Afrezza vs. One Drop | Premium Alone Unknown status NCT03313960 Phase 4 Afrezza plus One Drop | Premium
3 Comparison of Glycaemic Fluctuation and Oxidative Stress Between Two Short-term Therapies for Type 2 Diabetes Unknown status NCT02526810 Phase 4 insulin lispro;Insulin Glargine
4 PRotective Effect on the Coronary Microcirculation of Patients With DIabetes by Clopidogrel or Ticagrelor Unknown status NCT02698618 Phase 4 Randomization
5 Effect of Liraglutide Combined With Short-term CSII on Long-term Glycemic Remission and β Cell Function in Newly-diagnosed Type 2 Diabetic Patients Unknown status NCT01790308 Phase 4 CSII;Liraglutide
6 A Pilot Study of Outpatient Discharge Therapy With Saxagliptin + Metformin XR or Sulphonylurea for Recently Diagnosed Type 2 Diabetes Presenting With Severe Hyperglycemia Unknown status NCT01267448 Phase 4 Glipizide XL;Saxagliptin + Metformin XR;Metformin XR
7 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness in Type 2 Diabetes Patient With Metabolic Syndrome (Randomized, Double-Blind, Placebo-Controled, Cross-Over Study) Unknown status NCT00573950 Phase 4 cilostazol;Placebo
8 Effects of a Chronical Treatment With Benfotiamine in People With Type 2 Diabetes Mellitus on Pre- and Postprandial Endothelial Function, as Well as on the Function of the Autonomic Nervous System Unknown status NCT00446810 Phase 4 Benfotiamine;Placebo
9 Vascular Benefits of Adding CarvedilolCR to Type2 Diabetic Patients on ACEI:Effects on Oxidative Stress and Inflammation. Unknown status NCT00430040 Phase 4 carvedilol;lisinopril
10 The Effects of OMACOR on the LDL Sub-fraction in Korean Type 2 Diabetic Patients With Combined Hyperlipidemia Unknown status NCT00758927 Phase 4 Omega-3 acid 4 grams per day;Placebo control
11 The Effect of a Circuit Resistance Training, Empagliflozin or "Vegeterranean Diet" on Physical and Metabolic Function in Elderly Subjects With Type 2 Diabetes: a Study Protocol for a Randomized Control Trial (CEV-65 Trial) Unknown status NCT03560375 Phase 4 Empagliflozin 10 MG
12 Investigation of a Switch From Insulin Therapy to a Metformin & Saxagliptin Combination in Patients With Type 2 Diabetes Mellitus Unknown status NCT01206647 Phase 4 Metformin and Saxagliptin
13 A Double-Blind, Randomized, Parallel, Comparative Study to Evaluate the Efficacy and Safety of an Antidiabetic Agent Repaglinide for the Treatment of Type 2 Diabetes Mellitus Patients Unknown status NCT00336310 Phase 4 Repaglinide
14 A 12-week Study to Compare the Effects of Vildagliptin Versus Glibenclamide on Glycemic Variability After a Sub Maximal Exercise Test in Patients With Type 2 Diabetes Inadequately Controlled With Metformin. Unknown status NCT01867502 Phase 4 MET + Vildagliptin Group;MET + Glibenclamide Group
15 Pharmacodynamics Study to Investigate the Effect of Evogliptin on Bone Metabolism in Healthy Volunteers Unknown status NCT02587975 Phase 4 Evogliptin
16 Effects of Dapagliflozin on Hyperlipidemia, Glycemic Control and Insulin Resistance in Type 2 Diabetic Patients (DAPHNIS Study) Unknown status NCT02577159 Phase 4 Dapagliflozin
17 The Effect of the GLP-1 Receptor Agonists on Blood Levels of Lipoprotein (a) Unknown status NCT02501850 Phase 4 Liraglutide;metformin
18 Variability of Glucose Assessed in a Randomized Trial Comparing the Initiation of A Treatment Approach With Biosimilar Basal Insulin Analog Or a Titratable iGlarLixi combinatioN in Type 2 Diabetes Among South Asian Subjects (VARIATION 2 SA Trial) Unknown status NCT03819790 Phase 4 Basal insulin glargine and lixisenatide;Basal insulin Basaglar/Lantus + gliclazide MR;Metformin
19 A Study on the Anti-proteinuric Effects of Pioglitazone in Patients With Type 2 Diabetes. Unknown status NCT00749047 Phase 4 Pioglitazone
20 Effect of Linagliptin in Comparison With Glimepiride as Add on to Metformin on Postprandial Beta Cell Function, Postprandial Metabolism and Oxidative Stress in Patients With Type 2 Diabetes Mellitus Unknown status NCT01547104 Phase 4 Linagliptin;Glimepiride
21 Effect of Acarbose and Vildagliptin on Visceral Fat Distribution in Overweight and Obesity Patients With Newly Diagnosed Type 2 Diabetes Mellitus: A Randomized Control Study Unknown status NCT02999841 Phase 4 Acarbose;Vildagliptin
22 Effect of Allopurinol on Mono and Co-administration With Statins on Platelets Reactivity on Diabetic Patiets Treated With Aspirin and Insulin Unknown status NCT03195153 Phase 4 Atorvastatin 80mg;ALLOPURINOL 300 MG;Atorvastatin 80mg AND allopurinol 300 mg
23 A Pilot Study to Determine the Impact of Real-Time Continuous Glucose Monitoring (CGM) on Patients With Type 2 Diabetes Unknown status NCT00529815 Phase 4
24 Glucagon Like Peptides Receptors Expression in the Stomach of Diabetes Type 2 Unknown status NCT00473733 Phase 4
25 Mechanistic Study of the Systolic Blood Pressure Lowering Effect of Dapagliflozin in Type 2 Diabetes Unknown status NCT02372955 Phase 4 dapagliflozin;glimpiride
26 A Randomized, Unicenter, Parallel Study of the Effect of Dapagliflozin on Central Blood Pressure Reduction Compared to Glimepiride in Adult Subjects With Type 2 Diabetes Mellitus and Inadequate Glycemic Control. Unknown status NCT02919059 Phase 4 Dapagliflozin 10 mg;Glimepiride 4 mg
27 Efficacy and Safety of Lobeglitazone Versus Sitagliptin in Inadequately Controlled by Metformin Alone Type 2 Diabetes Mellitus Patients With Metabolic Syndrome: 24-week, Multi-center, Randomized, Double-blind, Phase 4 Study Unknown status NCT02480465 Phase 4 Lobelitazone 0.5mg;Sitagliptin 100mg
28 Randomized, Open Prospective Study of the Effect of SGLT-2 Inhibitor Dapagliflozin on Glycemic Variability in Patients With Diabetes Mellitus Type 2 Unknown status NCT02719756 Phase 4 Metformin;Dapagliflozin;Metformin up-titration
29 Effect of Centella Asiatica on Xerotic Skin in Diabetes Mellitus Type 2: a Study on N(6)-Carboxymethyl-lysine, Interleukin 1-α, Dan Superoxide Dismutase in Stratum Corneum Unknown status NCT03815305 Phase 4 Centella Asiatica Extract;Topical CA;Petroleum jelly
30 Effects of Thyroid Hormone Treatment on Mitochondrial Function, Ectopic Fat Accumulation, Insulin Sensitivity and Brown Adipose Tissue in Type 2 Diabetes Mellitus Unknown status NCT01379170 Phase 4 Euthyrox (levothyroxine)
31 Organization Program of DiabEtes INsulIN ManaGement: An Open, Multi-center, Prospective, Randomized, 16-week, Controlled Clinical Study Unknown status NCT01338376 Phase 4 Scilin®M30
32 Effects on Oxidative Stress, Coagulation, Platelet Activation and Inflammatory Indexes of Atorvastatin and/or Aspirin Treatment in Patients at High Risk of Vascular Events Unknown status NCT01322711 Phase 4 Atorvastatin;Placebo
33 Effect of Bydureon on Carotid Atherosclerosis Progression in T2DM Unknown status NCT02162550 Phase 4 Bydureon;placebo
34 Prospective Randomized Trials of Gastric Bypass Surgery in Patients With Type II Diabetes Mellitus Unknown status NCT00540462 Phase 4
35 NT-proBNP Selected PreventiOn of Cardiac eveNts in a populaTion of dIabetic Patients Without A History of Cardiac Disease: a Prospective Randomized Trial Unknown status NCT02817360 Phase 4 RAS-antagonist and beta-blocker up-to maximal dosages
36 Chronic Cold Acclimation Stimulates the Browning of Subcutaneous White Adipose in Patients With Type 2 Diabetes Mellitus Unknown status NCT02775253 Phase 4
37 Metabolism-independent Vascular Effects of the Dipetidylpeptidase-4-inhibitor Sitagliptin in Patients With Type 2 Diabetes Mellitus Unknown status NCT01096277 Phase 4 Sitagliptin;Placebo
38 Short-Term Alpha Lipoic Acid Therapy for Prevention of Contrast-induced Acute Kidney Injury and Endothelial Dysfunction in Type 2 Diabetes Unknown status NCT01978405 Phase 4 Alpha lipoic acid
39 Multiple Substitution of First Phase Insulin Response With a Rapid Action Insuli Analogue in Patient With Newly Diagnosed Type 2 Diabtes. Unknown status NCT00254085 Phase 4 Insulin Aspart
40 Antiatherogenic and Antimetabolic Effect of Curcumin in Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4 curcumin
41 Healthy Heart Study: Can Insulin Glargine Improve Myocardial Function in Patients With Type 2 Diabetes and Coronary Artery Disease? A Prospective, Randomized, Controlled Clinical Study With Blinded Analysis of Ultrasound Data Unknown status NCT01035528 Phase 4 insulin glargine;metformin
42 A Randomized, Non-inferiority, Open-label Clinical Trial to Evaluate the Safety and Efficacy of GAcarbose+Saxagliptin Compared With Metformin+Saxagliptin in Patients With Type 2 Diabetes in Chinese Unknown status NCT02605772 Phase 4 Acarbose;Metformin;Saxagliptin
43 Beijing Chao-yang Hospital, Capital Medical University Unknown status NCT02583438 Phase 4 Saxagliptin (Bristol-Myers Squibb Company)
44 A Randomized, Double-blind, Active Control, Parallel Group, Exploratory Phase IV Study to Compare the Effects of Tenelia® or Januvia® on Glucose Variability in add-on to Metformin in Patients With Inadequately Controlled Type2 Diabetes Mellitus in Metformin Only Treatment Unknown status NCT02512523 Phase 4 Teneligliptin;Sitagliptin
45 Effect of Sodium Glucose Co-transporter 2 (SGLT2) Inhibitor on Systemic and Renal Endothelial Function in Patients With Type 2 Diabetes Mellitus Without History of Coronary Artery Disease (SOCCER Trial) Unknown status NCT02501616 Phase 4 Metformin;Dapagliflozin
46 Randomized, Long-Term Study About the Effects of Analogue Versus Human Insulin Based Regimens (Insulin Detemir and Aspart Versus NPH- and Regular Human Insulin) on Metabolic Control and Myocardial Function in People With Type 2 Diabetes. Unknown status NCT00747409 Phase 4 insulin aspart and detemir (NovoRapid, Levemir);human regular insulin and NPH insulin (Actrapid, Protaphne)
47 Effects of Sitagliptin On Markers of Bone Turnover in Patients With Type 2 Diabetes Unknown status NCT00732121 Phase 4 Sitagliptin;Placebo
48 Effect of Supplementary Vitamin D in Patients With Diabetes Mellitus and Pulmonary Tuberculosis (EVIDENT Study): a Randomized, Double Blind, Controlled Trial Unknown status NCT02169570 Phase 4
49 Study on the Efficacy aNd Safety of Jinlida Granules in Patients With Inadequately cOntrolled tYpe-2 Diabetes and dysLIpidemia Under liFe Style Intervention (ENJOY LIFE Study) Unknown status NCT02035644 Phase 4 Jinlida granules;placebo granules
50 Effect of Liraglutide on Fatty Liver Content Evaluated by Proton-spectroscopy (1H-spectroscopy) and Lipoprotein Kinetic, in Patients With Type 2 Diabetes Unknown status NCT02721888 Phase 4 Liraglutide;MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)

Search NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 1

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 1

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 1:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 1 29 HNF4A

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 1

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 1:

40
Endothelial, Liver, Bone, Skeletal Muscle, Bone Marrow, Kidney, Pancreas

Publications for Maturity-Onset Diabetes of the Young, Type 1

Articles related to Maturity-Onset Diabetes of the Young, Type 1:

(show top 50) (show all 163)
# Title Authors PMID Year
1
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. 6 57 61
12050210 2002
2
A novel Phe75fsdelT mutation in the hepatocyte nuclear factor-4alpha gene in a Danish pedigree with maturity-onset diabetes of the young. 61 6 57
9920109 1999
3
Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. 6 57 61
9294105 1997
4
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) 61 6 57
8945471 1996
5
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 57 6
17407387 2007
6
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 57 6
11575290 2001
7
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. 57 61
11590126 2001
8
Maturity-onset diabetes of the young Type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4alpha (HNF4alpha) gene impair recruitment of p300, a key transcriptional co-activator. 61 6
11435618 2001
9
Molecular Genetics of Maturity-onset Diabetes of the Young. 57 61
10322408 1999
10
Organization and partial sequence of the hepatocyte nuclear factor-4 alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY. 61 6
9313765 1997
11
A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene. 61 57
8632993 1996
12
Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. 61 57
7789636 1995
13
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. 6
28242437 2017
14
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. 6
16917892 2006
15
A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus. 57
8094595 1993
16
Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance. 57
1539597 1992
17
Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. 57
1899928 1991
18
Scope and heterogeneous nature of MODY. 57
2404717 1990
19
Maturity-onset diabetes of the young (MODY). 57
2689121 1989
20
Possible localization of the gene(s) for juvenile diabetes mellitus (JDM) to the HLA region of chromosome 6. 57
752490 1978
21
Clinical and laboratory clues of maturity-onset diabetes of the young and determination of association with molecular diagnosis. 61
32710514 2021
22
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas. 61
33251707 2020
23
[Post-partum hypoglycaemia in a child to a father with HNF4A diabetes]. 61
32734872 2020
24
A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family. 61
32670997 2020
25
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. 61
31875549 2019
26
HNF4A Haploinsufficiency in MODY1 Abrogates Liver and Pancreas Differentiation from Patient-Derived Induced Pluripotent Stem Cells. 61
31195238 2019
27
In silico and in vitro analyses of the pathological relevance of the R258H mutation of hepatocyte nuclear factor 4α identified in maturity-onset diabetes of the young type 1. 61
30325586 2019
28
Dimerization defective MODY mutations of hepatocyte nuclear factor 4α. 61
30648609 2019
29
HNF4α is a novel regulator of intestinal glucose-dependent insulinotropic polypeptide. 61
30862908 2019
30
Novel mechanisms of regulation of the expression and transcriptional activity of hepatocyte nuclear factor 4α. 61
30191603 2019
31
Derivation and molecular characterization of pancreatic differentiated MODY1-iPSCs. 61
29990710 2018
32
NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features. 61
28664602 2018
33
Probing the missing mature β-cell proteomic landscape in differentiating patient iPSC-derived cells. 61
28684784 2017
34
Hypoxia reduces HNF4α/MODY1 protein expression in pancreatic β-cells by activating AMP-activated protein kinase. 61
28364040 2017
35
Efficacy and safety of alogliptin in a pediatric patient with maturity-onset diabetes of the young type 1. 61
28804210 2017
36
The Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice. 61
27571483 2016
37
A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among multi-ethnic Asians. 61
27420379 2016
38
The Drosophila HNF4 nuclear receptor promotes glucose-stimulated insulin secretion and mitochondrial function in adults. 61
27185732 2016
39
Functional characteristics of reversibly immortalized hepatic progenitor cells derived from mouse embryonic liver. 61
25301359 2014
40
Multidomain integration in the structure of the HNF-4α nuclear receptor complex. 61
23485969 2013
41
Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2). 61
23139355 2013
42
Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young. 61
23306198 2013
43
Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families. 61
23652628 2013
44
Characterization of beta cell and incretin function in patients with MODY1 (HNF4A MODY) and MODY3 (HNF1A MODY) in a Swedish patient collection. 61
21761282 2012
45
Localization of hepatocyte nuclear factor-4α in the nucleolus and nucleus is regulated by its C-terminus. 61
24843605 2012
46
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 61
22802087 2012
47
Anks4b, a novel target of HNF4α protein, interacts with GRP78 protein and regulates endoplasmic reticulum stress-induced apoptosis in pancreatic β-cells. 61
22589549 2012
48
MED25 is a mediator component of HNF4α-driven transcription leading to insulin secretion in pancreatic beta-cells. 61
22952853 2012
49
Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. 61
21214702 2011
50
Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes. 61
21183721 2011

Variations for Maturity-Onset Diabetes of the Young, Type 1

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 1:

6 (show top 50) (show all 153)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF4A HNF4A, 1-BP DEL, PHE75T Deletion Pathogenic 9214
2 HNF4A NM_175914.4(HNF4A):c.427-1G>A SNV Pathogenic 587398 rs1568731279 20:43043146-43043146 20:44414506-44414506
3 HNF4A NM_175914.4(HNF4A):c.582+1G>A SNV Pathogenic 617652 rs1392795567 20:43043303-43043303 20:44414663-44414663
4 HNF4A NM_175914.4(HNF4A):c.583-2del Deletion Pathogenic 9215 rs1600731198 20:43047063-43047063 20:44418423-44418423
5 HNF4A NM_175914.4(HNF4A):c.763C>T (p.Gln255Ter) SNV Pathogenic 9210 rs137853334 20:43048453-43048453 20:44419813-44419813
6 HNF4A NM_175914.4(HNF4A):c.421C>T (p.Arg141Ter) SNV Pathogenic 9211 rs137853335 20:43042435-43042435 20:44413795-44413795
7 HNF4A NM_175914.4(HNF4A):c.1052T>G (p.Met351Arg) SNV Pathogenic 9216 rs137853338 20:43052883-43052883 20:44424243-44424243
8 HNF4A NM_175914.4(HNF4A):c.265C>T (p.Gln89Ter) SNV Pathogenic 617653 rs1568724014 20:43036061-43036061 20:44407421-44407421
9 HNF4A NM_175914.4(HNF4A):c.340C>T (p.Arg114Trp) SNV Pathogenic 9212 rs137853336 20:43042354-43042354 20:44413714-44413714
10 HNF4A NM_000457.5(HNF4A):c.998G>A (p.Arg333His) SNV Pathogenic 586023 rs1375557127 20:43052763-43052763 20:44424123-44424123
11 HNF4A NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic 156152 rs587777732 20:43034835-43034835 20:44406195-44406195
12 HNF4A NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic 156152 rs587777732 20:43034835-43034835 20:44406195-44406195
13 HNF4A NM_001287183.1(HNF4A):c.461_463AGA[1] (p.Lys155del) Microsatellite Likely pathogenic 435437 rs1280663753 20:43043188-43043190 20:44414548-44414550
14 HNF4A NM_175914.4(HNF4A):c.869G>A (p.Arg290His) SNV Likely pathogenic 804918 rs1191912908 20:43052700-43052700 20:44424060-44424060
15 HNF4A HNF4A deletion Deletion Likely pathogenic 36366
16 HNF4A NM_175914.4(HNF4A):c.201del (p.Lys68fs) Deletion Likely pathogenic 617649 rs1385251852 20:43034848-43034848 20:44406208-44406208
17 HNF4A NM_175914.4(HNF4A):c.640T>A (p.Ser214Thr) SNV Likely pathogenic 397578 rs1060499693 20:43047122-43047122 20:44418482-44418482
18 HNF4A NM_175914.4(HNF4A):c.740T>C (p.Leu247Pro) SNV Likely pathogenic 435438 rs1555816654 20:43048430-43048430 20:44419790-44419790
19 HNF4A NM_175914.4(HNF4A):c.1097C>G (p.Pro366Arg) SNV Likely pathogenic 36342 rs193922469 20:43057008-43057008 20:44428368-44428368
20 HNF4A NM_175914.4(HNF4A):c.1187G>C (p.Cys396Ser) SNV Likely pathogenic 36344 rs193922470 20:43057098-43057098 20:44428458-44428458
21 HNF4A NM_175914.4(HNF4A):c.281_282delinsC (p.Arg94fs) Indel Likely pathogenic 36348 rs193922471 20:43036077-43036078 20:44407437-44407438
22 HNF4A NM_175914.4(HNF4A):c.553G>C (p.Ala185Pro) SNV Likely pathogenic 36354 rs193922474 20:43043273-43043273 20:44414633-44414633
23 HNF4A NM_175914.4(HNF4A):c.660_662delinsTCAA (p.Leu221fs) Indel Likely pathogenic 36356 rs193922476 20:43047142-43047144 20:44418502-44418504
24 HNF4A NM_175914.4(HNF4A):c.575_582+10del Deletion Likely pathogenic 36355 rs193922475 20:43043292-43043309 20:44414652-44414669
25 HNF4A NM_000457.5(HNF4A):c.991C>T (p.Arg331Cys) SNV Likely pathogenic 36364 rs193922479 20:43052756-43052756 20:44424116-44424116
26 HNF4A NM_000457.5(HNF4A):c.834G>C (p.Glu278Asp) SNV Likely pathogenic 36360 rs193922477 20:43048458-43048458 20:44419818-44419818
27 HNF4A NM_175914.4(HNF4A):c.381G>A (p.Leu127=) SNV Conflicting interpretations of pathogenicity 36350 rs193922473 20:43042395-43042395 20:44413755-44413755
28 HNF4A NM_175914.4(HNF4A):c.426+6G>A SNV Conflicting interpretations of pathogenicity 36352 rs182980547 20:43042446-43042446 20:44413806-44413806
29 HNF4A NM_175914.4(HNF4A):c.763C>G (p.Gln255Glu) SNV Uncertain significance 437910 rs137853334 20:43048453-43048453 20:44419813-44419813
30 HNF4A NM_175914.4(HNF4A):c.224G>A (p.Arg75Lys) SNV Uncertain significance 430844 rs1131692187 20:43034872-43034872 20:44406232-44406232
31 HNF4A NM_175914.4(HNF4A):c.791A>G (p.Tyr264Cys) SNV Uncertain significance 633668 rs748714111 20:43048481-43048481 20:44419841-44419841
32 HNF4A NM_175914.4(HNF4A):c.826+30dup Duplication Uncertain significance 36361 rs193922478 20:43048545-43048546 20:44419905-44419906
33 HNF4A NM_175914.4(HNF4A):c.*4G>A SNV Uncertain significance 36346 rs193922468 20:43058309-43058309 20:44429669-44429669
34 HNF4A NM_000457.5(HNF4A):c.488G>A (p.Arg163Gln) SNV Uncertain significance 972784 20:43042436-43042436 20:44413796-44413796
35 HNF4A NM_000457.5(HNF4A):c.655C>A (p.Leu219Met) SNV Uncertain significance 972785 20:43047071-43047071 20:44418431-44418431
36 HNF4A NM_000457.5(HNF4A):c.992G>T (p.Arg331Leu) SNV Uncertain significance 972810 20:43052757-43052757 20:44424117-44424117
37 HNF1A NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) SNV Uncertain significance 667246 rs759717253 12:121437142-121437142 12:120999339-120999339
38 HNF4A NM_175914.4(HNF4A):c.*1616G>A SNV Uncertain significance 338460 rs886056685 20:43059921-43059921 20:44431281-44431281
39 HNF4A NM_175914.4(HNF4A):c.*3013A>G SNV Uncertain significance 338490 rs773868595 20:43061318-43061318 20:44432678-44432678
40 HNF4A NM_175914.4(HNF4A):c.*572C>A SNV Uncertain significance 338444 rs761017274 20:43058877-43058877 20:44430237-44430237
41 HNF4A NM_175914.4(HNF4A):c.*3104A>C SNV Uncertain significance 338495 rs886056703 20:43061409-43061409 20:44432769-44432769
42 HNF4A NM_175914.4(HNF4A):c.*2992C>T SNV Uncertain significance 338489 rs770250175 20:43061297-43061297 20:44432657-44432657
43 HNF4A NM_175914.4(HNF4A):c.50-4753G>A SNV Uncertain significance 338423 rs566155738 20:43029945-43029945 20:44401305-44401305
44 HNF4A NM_175914.4(HNF4A):c.*1106G>A SNV Uncertain significance 338457 rs753675648 20:43059411-43059411 20:44430771-44430771
45 HNF4A NM_175914.4(HNF4A):c.*3068C>T SNV Uncertain significance 338493 rs753843962 20:43061373-43061373 20:44432733-44432733
46 HNF4A NM_175914.4(HNF4A):c.*3153C>A SNV Uncertain significance 338499 rs569302875 20:43061458-43061458 20:44432818-44432818
47 HNF4A NM_175914.4(HNF4A):c.*145T>A SNV Uncertain significance 338432 rs200905283 20:43058450-43058450 20:44429810-44429810
48 HNF4A NM_175914.4(HNF4A):c.*965G>T SNV Uncertain significance 338450 rs886056683 20:43059270-43059270 20:44430630-44430630
49 HNF4A NM_175914.4(HNF4A):c.*2558T>C SNV Uncertain significance 338472 rs886056688 20:43060863-43060863 20:44432223-44432223
50 HNF4A NM_175914.4(HNF4A):c.*2374G>C SNV Uncertain significance 338470 rs373068234 20:43060679-43060679 20:44432039-44432039

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 1:

73
# Symbol AA change Variation ID SNP ID
1 HNF4A p.Arg136Trp VAR_004668 rs137853336
2 HNF4A p.Glu285Gln VAR_010601
3 HNF4A p.Met373Arg VAR_071952 rs137853338

Expression for Maturity-Onset Diabetes of the Young, Type 1

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 1.

Pathways for Maturity-Onset Diabetes of the Young, Type 1

Pathways related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 SLC2A2 PPARG PDX1 PAX4 NEUROD1 LEP
2
Show member pathways
12.81 SLC2A2 PDX1 KCNJ11 INS GCK GCG
3 12.46 PPARG PDX1 NEUROD1 INS HNF4A HNF1A
4
Show member pathways
12.4 PPARG LEP INS HNF4A ADIPOQ
5
Show member pathways
12.36 SLC2A2 LEP INS GCK
6
Show member pathways
12.3 SLC2A2 KCNJ11 INS GCG ADIPOQ ABCC8
8
Show member pathways
12.14 LEP INS GCG DPP4
9 12 PPARG LEP INS HNF1A ADIPOQ
10 11.99 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1B
11
Show member pathways
11.95 SLC2A2 PDX1 NEUROD1 INS HNF4A HNF1B
12
Show member pathways
11.81 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF4A
13 11.8 PPARG LEP INS ADIPOQ
14 11.58 LEP HNF4A GCK
15
Show member pathways
11.51 LEP GCG DPP4
16 11.46 LEP KCNJ11 ABCC8
17 11.43 LEP INS BLK
18
Show member pathways
11.35 SLC2A2 PDX1 NEUROD1 KCNJ11 INS HNF4A
19 11.25 SLC2A2 PDX1 KCNJ11 INS HNF4A HNF1A
20 11.11 PPARG LEP ADIPOQ
21 11.03 PPARG LEP ADIPOQ
22 10.5 HNF4A HNF1A

GO Terms for Maturity-Onset Diabetes of the Young, Type 1

Cellular components related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.23 PPARG PDX1 PAX4 NEUROD1 KLF11 HNF4A
2 inward rectifying potassium channel GO:0008282 8.96 KCNJ11 ABCC8

Biological processes related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.21 PPARG PDX1 PAX4 NEUROD1 KLF11 HNF4A
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.12 PPARG PDX1 PAX4 LEP KLF11 HNF1A
3 positive regulation of transcription, DNA-templated GO:0045893 10.08 PPARG PDX1 NEUROD1 HNF4A HNF1B HNF1A
4 negative regulation of transcription, DNA-templated GO:0045892 10.01 PPARG PDX1 PAX4 KLF11 HNF4A ADIPOQ
5 response to drug GO:0042493 9.97 PPARG PDX1 PAX4 NEUROD1 KCNJ11 HNF1B
6 liver development GO:0001889 9.82 PDX1 HNF1B HNF1A
7 circadian rhythm GO:0007623 9.81 PAX4 LEP ADIPOQ
8 response to nutrient GO:0007584 9.81 PPARG LEP ADIPOQ
9 cellular response to insulin stimulus GO:0032869 9.81 PPARG LEP GCK ADIPOQ
10 response to nutrient levels GO:0031667 9.8 PDX1 LEP ADIPOQ
11 response to glucose GO:0009749 9.8 PDX1 NEUROD1 HNF4A HNF1A ADIPOQ
12 response to activity GO:0014823 9.76 LEP GCG ADIPOQ
13 positive regulation of cell differentiation GO:0045597 9.74 PAX4 NEUROD1 INS
14 positive regulation of insulin secretion GO:0032024 9.73 PDX1 GCK BLK
15 pancreas development GO:0031016 9.73 PDX1 PAX4 HNF1B HNF1A
16 placenta development GO:0001890 9.72 PPARG LEP HNF1A
17 insulin secretion GO:0030073 9.72 PDX1 NEUROD1 LEP HNF1B HNF1A
18 hepatocyte differentiation GO:0070365 9.65 HNF4A HNF1B
19 negative regulation of gluconeogenesis GO:0045721 9.65 INS GCK ADIPOQ
20 endocrine pancreas development GO:0031018 9.65 PDX1 PAX4 NEUROD1 HNF1B HNF1A
21 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.63 PPARG CRP ADIPOQ
22 glucose metabolic process GO:0006006 9.63 PDX1 LEP KCNJ11 INS GCK ADIPOQ
23 cellular response to leptin stimulus GO:0044320 9.62 LEP GCK
24 negative regulation of lipid storage GO:0010888 9.62 LEP CRP
25 negative regulation of acute inflammatory response GO:0002674 9.61 PPARG INS
26 regulation of insulin secretion GO:0050796 9.61 SLC2A2 NEUROD1 LEP KCNJ11 HNF4A GCK
27 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.59 PDX1 NEUROD1
28 positive regulation of fatty acid metabolic process GO:0045923 9.58 PPARG ADIPOQ
29 detection of glucose GO:0051594 9.52 PDX1 GCK
30 regulation of pronephros size GO:0035565 9.49 HNF1B HNF1A
31 glucose homeostasis GO:0042593 9.32 PPARG PDX1 NEUROD1 LEP INS HNF4A

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.07 PPARG PDX1 PAX4 NEUROD1 LEP KLF11
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.03 PPARG PDX1 PAX4 NEUROD1 KLF11 HNF4A
3 sequence-specific double-stranded DNA binding GO:1990837 9.92 PDX1 PAX4 NEUROD1 KLF11 HNF4A
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.92 PPARG PDX1 PAX4 NEUROD1 KLF11 HNF4A
5 identical protein binding GO:0042802 9.91 PPARG INS HNF1B HNF1A GCG DPP4
6 chromatin binding GO:0003682 9.89 PPARG PDX1 NEUROD1 HNF4A HNF1A
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.81 PPARG KLF11 HNF4A HNF1A
8 double-stranded DNA binding GO:0003690 9.76 PPARG PAX4 NEUROD1 HNF1A
9 hormone activity GO:0005179 9.71 LEP INS GCG ADIPOQ
10 sequence-specific DNA binding GO:0043565 9.63 PPARG PDX1 NEUROD1 HNF4A HNF1B HNF1A
11 DNA-binding transcription factor activity GO:0003700 9.5 PPARG PDX1 NEUROD1 KLF11 HNF4A HNF1B
12 ATP-activated inward rectifier potassium channel activity GO:0015272 9.48 KCNJ11 ABCC8
13 signaling receptor binding GO:0005102 9.1 LEP HNF4A GCG DPP4 BLK ADIPOQ

Sources for Maturity-Onset Diabetes of the Young, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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