MODY1
MCID: MTR018
MIFTS: 62

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 70
Mody1 57 12 20 72
Mild Juvenile Diabetes Mellitus 57 12 72
Mody Type 1 12 20 72
Maturity-Onset Diabetes of the Young Type 1 12 15
Diabetes Mellitus Type 2 12 73
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 72
Diabetes Mellitus Mody Type 1 20
Mody Hnf4a Related 20
Mody, Type 1 57
Mody-1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-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 70 C1852093

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

UniProtKB/Swiss-Prot : 72 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 Phenylephrine and Oxymetazoline 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 : 73 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 370)
# 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 30.7 PPARG LEP INS ADIPOQ
5 arteries, anomalies of 30.6 LEP INS CRP ALB ADIPOQ
6 lipid metabolism disorder 30.6 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 generalized atherosclerosis 30.2 INS CRP ALB
13 chronic ulcer of skin 30.2 INS CRP ALB
14 end stage renal disease 30.1 LEP INS CRP ALB ADIPOQ
15 vascular disease 30.1 PPARG LEP INS CRP ALB ADIPOQ
16 lipoprotein quantitative trait locus 30.1 PPARG INS GCG CRP BLK ALB
17 monogenic diabetes 30.0 PDX1 KLF11 KCNJ11 INS HNF4A HNF1B
18 atherosclerosis susceptibility 30.0 PPARG LEP INS CRP ALB ADIPOQ
19 cerebrovascular disease 30.0 LEP INS CRP ADIPOQ
20 arteriosclerosis 30.0 PPARG INS CRP ADIPOQ
21 eating disorder 30.0 LEP GCG ALB ADIPOQ
22 congestive heart failure 30.0 INS CRP ALB ABCC8
23 celiac disease 1 29.9 INS GCG DPP4 CRP ALB
24 chronic kidney disease 29.9 PPARG LEP INS HNF1B GCG CRP
25 acute insulin response 29.9 KCNJ11 INS GCG CRP ABCC8
26 familial hyperlipidemia 29.9 PPARG LEP INS CRP ADIPOQ
27 substance abuse 29.8 INS CRP ALB
28 abdominal obesity-metabolic syndrome 1 29.8 PPARG LEP INS GCK GCG ADIPOQ
29 sleep apnea 29.8 LEP INS CRP ALB ADIPOQ
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 dental caries 29.7 SLC2A2 CRP ALB
34 hyperuricemia 29.6 PPARG LEP INS HNF1B 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 29.6 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 hypertension, essential 29.4 PPARG LEP INS GCG DPP4 CRP
41 insulinoma 29.4 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1A
42 osteoporosis 29.3 PPARG LEP INS DPP4 CRP ALB
43 permanent neonatal diabetes mellitus 29.3 SLC2A2 PDX1 PAX4 NEUROD1 KCNJ11 INS
44 gestational diabetes 29.2 PPARG LEP KCNJ11 INS HNF4A HNF1A
45 kidney disease 29.2 PPARG LEP INS HNF1B DPP4 CRP
46 maturity-onset diabetes of the young, type 3 29.1 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
47 maturity-onset diabetes of the young, type 2 29.0 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
48 type 1 diabetes mellitus 29.0 PDX1 PAX4 NEUROD1 LEP INS HNF4A
49 glucose intolerance 28.9 PPARG NEUROD1 LEP KCNJ11 INS GCK
50 hyperinsulinism 28.9 PPARG LEP KCNJ11 INS HNF4A 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-Apr-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-Apr-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 819)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenylephrine Approved Phase 4 59-42-7 6041
2
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
3
Eprosartan Approved Phase 4 133040-01-4 5281037
4
Petrolatum Approved, Investigational Phase 4 8009-03-8
5
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
6
Cilazapril Approved Phase 4 92077-78-6, 88768-40-5 56329 56330
7
Fosinopril Approved Phase 4 98048-97-6 55891
8
Trandolapril Approved Phase 4 87679-37-6 5484727
9
Spirapril Approved Phase 4 83647-97-6 5311447
10
Zofenopril Approved Phase 4 81872-10-8
11
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
12
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 5271565 637568
13
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616
14
Thrombin Approved, Investigational Phase 4
15
Tocopherol Approved, Investigational Phase 4 1406-66-2
16
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
17
Simvastatin Approved Phase 4 79902-63-9 54454
18
Nitroprusside Approved, Investigational Phase 4 15078-28-1 11963622
19
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
20
Indapamide Approved Phase 4 26807-65-8 3702
21
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
22
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
23
Lactulose Approved Phase 4 4618-18-2 11333
24
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
25
Cholecystokinin Approved, Investigational Phase 4 9011-97-6
26
Fenofibrate Approved Phase 4 49562-28-9 3339
27
Azilsartan medoxomil Approved, Investigational Phase 4 863031-21-4
28
Lacidipine Approved, Investigational Phase 4 103890-78-4
29
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
30
Ramipril Approved Phase 4 87333-19-5 5362129
31
Gliquidone Approved, Investigational Phase 4 33342-05-1 91610
32
Tolbutamide Approved, Investigational Phase 4 64-77-7 5505
33
Nutmeg Approved Phase 4
34
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
35
Altretamine Approved Phase 4 645-05-6 2123
36
Losartan Approved Phase 4 114798-26-4 3961
37
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
38
Epoprostenol Approved Phase 4 35121-78-9, 61849-14-7 5282411 5280427
39
Acetaminophen Approved Phase 4 103-90-2 1983
40 Strawberry Approved Phase 4
41
Inositol Approved, Investigational, Withdrawn Phase 4 87-89-8
42
Clonidine Approved Phase 4 4205-90-7 2803
43
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
44
Enalaprilat Approved Phase 4 76420-72-9 6917719
45
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
46
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
47
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
48
Terazosin Approved Phase 4 63590-64-7 5401
49
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
50
Hydralazine Approved Phase 4 86-54-4 3637

Interventional clinical trials:

(show top 50) (show all 6526)
# Name Status NCT ID Phase Drugs
1 Vascular Benefits of Adding CarvedilolCR to Type2 Diabetic Patients on ACEI:Effects on Oxidative Stress and Inflammation. Unknown status NCT00430040 Phase 4 carvedilol;lisinopril
2 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
3 Mechanistic Study of the Systolic Blood Pressure Lowering Effect of Dapagliflozin in Type 2 Diabetes Unknown status NCT02372955 Phase 4 dapagliflozin;glimpiride
4 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
5 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
6 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
7 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
8 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
9 The Effect of the GLP-1 Receptor Agonists on Blood Levels of Lipoprotein (a) Unknown status NCT02501850 Phase 4 Liraglutide;metformin
10 Glucagon Like Peptides Receptors Expression in the Stomach of Diabetes Type 2 Unknown status NCT00473733 Phase 4
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 A Study on the Anti-proteinuric Effects of Pioglitazone in Patients With Type 2 Diabetes. Unknown status NCT00749047 Phase 4 Pioglitazone
20 Pharmacodynamics Study to Investigate the Effect of Evogliptin on Bone Metabolism in Healthy Volunteers Unknown status NCT02587975 Phase 4 Evogliptin
21 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
22 PRotective Effect on the Coronary Microcirculation of Patients With DIabetes by Clopidogrel or Ticagrelor Unknown status NCT02698618 Phase 4 Randomization
23 Effects of Dapagliflozin on Hyperlipidemia, Glycemic Control and Insulin Resistance in Type 2 Diabetic Patients (DAPHNIS Study) Unknown status NCT02577159 Phase 4 Dapagliflozin
24 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
25 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
26 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
27 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
28 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
29 Intensive Medical Treatment for Nephropathy Caused by Type 2 Diabetes With Hypertension Unknown status NCT00407680 Phase 4 Intensive therapy Valsartan,Fluvastatin
30 ACE/ACE2 Ratio in Diabetic Patients Treated With Antihypertensive Drugs Unknown status NCT00192803 Phase 4 candesartan
31 Study of Comparison the Treatment Effect Between Gastric Bypass and Exenatide in Type 2 Diabetes Unknown status NCT01435980 Phase 4 Exenatide
32 Multicenter, Randomized Trial Designed to Evaluate the Applicability of the Guidelines of the Italian Society of Diabetology for the Prevention of Cardiovascular Diseases in Type 2 Diabetes Unknown status NCT01240070 Phase 4
33 SGLT-2 Inhibition and Cardiovascular Disease. Metabolomics Study of Potential Factors Involved in Cardio- and Nephroprotection Unknown status NCT03919656 Phase 4 Dapagliflozin 10 mg;Placebo Oral Tablet
34 The Effect of Omega-3 Fatty Acids on Hypertriglyceridemia in Patients With Type 2 Diabetes Mellitus Unknown status NCT03120299 Phase 4 Omega-3 fatty acid;Placebos
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 The Assessment of the Effect of Vitamin D Supplementation on the Serum of AGES and Endothelialy Factors and Gene Expression of Glyoxalase Enzyme and YKL-40 Factor in PBMC Cells in the Patients With Type 2 Diabetes . Unknown status NCT03008057 Phase 4
37 The Effect of Empagliflozin on NAFLD in Asian Patients With Type 2 Diabetes Unknown status NCT02964715 Phase 4 Empagliflozin
38 The Influence of Adalimumab vs. Fumaric Acid Esters on Cardiovascular and Metabolic Risk Factors in the Therapy of Patients With Moderate to Severe Psoriasis Vulgaris Unknown status NCT01088165 Phase 4 Adalimumab treatment arm;Fumaric acid esters treatment group
39 Antiatherogenic and Antimetabolic Effect of Curcumin in Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4 curcumin
40 Effect of Dapagliflozin on Nighttime Blood Pressure in Type 2 Diabetes Unknown status NCT03887416 Phase 4 Dapagliflozin 10 MG Oral Tablet [Farxiga];Placebo Oral Tablet
41 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
42 Effects on Glycemic Variability and Glyco-metabolic Control of Metformin, Pioglitazone and Sitagliptin in Type 2 Diabetic Patients Unknown status NCT01895569 Phase 4 Metformin;Pioglitazone;Sitagliptin
43 Study of Metabolic Effects of EndoBarrier Versus Intragastric Balloon in Obese Patients With Type 2 Diabetes. Unknown status NCT01848795 Phase 4
44 Metabolomic Variations in the Saxagliptin-Treated Type 2 Diabetes Mellitus Patients Unknown status NCT01768208 Phase 4 Saxagliptin
45 A Single Center, Open Label, Randomized Study to Compare the Effect of Vytorin (Simvastatin/Ezetimibe) 10/20mg Versus Atorvastatin 20mg on ApoB/ApoA1 Ratio in Subjects With Diabetes Unknown status NCT01185236 Phase 4 simvastatin/ezetimibe;atorvastatin 20mg
46 The Effect of TRADJENTA ® (LINAGLIPTIN) on Inflammation, Oxidative Stress and Insulin Resistance in Obese Type 2 Diabetes Subjects Unknown status NCT02372630 Phase 4 Linagliptin;Placebo
47 Clinical Study to Compare Various Dosing and Titration Guidelines of Insulin Delivered Via V-Go ® in Patients With Type 2 Diabetes Initiating Basal Bolus Therapy in Primary Care Offices (Short Title: TITRATE) Unknown status NCT02361489 Phase 4
48 A Randomized, Prospective, Parallel Design Study to Compare the Effectiveness of Sitagliptin Versus Glimepiride on Endothelial Dysfunction During an Oral Glucose Loading in Drug Naive Patients With Type 2 Diabetes. Unknown status NCT02301806 Phase 4 Sitagliptin;Glimepiride
49 The Effect of n-3 Fatty Acid Supplementation on the Expression of Sirt-1, Adiponectin Receptor 1 (AdipoR1) & Adiponectin Receptor 2 (AdipoR2) Genes of PBMC and Circulatory Levels of Resistin,Monocyte Chemotactic Protein (MCP-1) and Adiponectin of type2 Diabetes Patient Unknown status NCT02261545 Phase 4
50 Metformin and Sitagliptin Therapy for Adult Patients With Type 2 Diabetes Admitted to the General Medical Unit Unknown status NCT02250794 Phase 4 metformin and sitagliptin;insulin glargine and insulin lispro;metformin and sitagliptin;insulin glargine and insulin lispro

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, Kidney, Skeletal Muscle, Bone Marrow, 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 178)
# 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. 57 6 61
9920109 1999
3
Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. 61 6 57
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
Multidomain integration in the structure of the HNF-4α nuclear receptor complex. 6 61
23485969 2013
8
Control of ACAT2 liver expression by HNF4{alpha}: lesson from MODY1 patients. 61 6
19478207 2009
9
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. 61 57
11590126 2001
10
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. 6 61
11435618 2001
11
Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients. 6 61
10768098 2000
12
Molecular Genetics of Maturity-onset Diabetes of the Young. 57 61
10322408 1999
13
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. 6 61
9313765 1997
14
A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene. 57 61
8632993 1996
15
Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. 57 61
7789636 1995
16
Fainting Fanconi syndrome clarified by proxy: a case report. 6
28693455 2017
17
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. 6
28242437 2017
18
Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. 6
28458902 2017
19
Characteristics of maturity onset diabetes of the young in a large diabetes center. 6
26059258 2016
20
[Monogenic form of diabetes mellitus due to HNF4α mutation (MODY-1) - the first case in Hungary]. 6
26971647 2016
21
Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. 6
27245055 2016
22
Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction. 6
25819479 2015
23
Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation. 6
24947580 2014
24
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 6
24285859 2014
25
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. 6
23348805 2013
26
Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications. 6
21683639 2011
27
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. 6
20164212 2010
28
Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. 6
18811724 2009
29
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
30
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. 6
15830177 2005
31
The Protein Data Bank. 6
10592235 2000
32
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
33
Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance. 57
1539597 1992
34
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
35
Scope and heterogeneous nature of MODY. 57
2404717 1990
36
Maturity-onset diabetes of the young (MODY). 57
2689121 1989
37
Possible localization of the gene(s) for juvenile diabetes mellitus (JDM) to the HLA region of chromosome 6. 57
752490 1978
38
Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage. 6
193395 1977
39
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 2021
40
Clinical and laboratory clues of maturity-onset diabetes of the young and determination of association with molecular diagnosis. 61
32710514 2021
41
[Post-partum hypoglycaemia in a child to a father with HNF4A diabetes]. 61
32734872 2020
42
A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family. 61
32670997 2020
43
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. 61
31875549 2019
44
HNF4A Haploinsufficiency in MODY1 Abrogates Liver and Pancreas Differentiation from Patient-Derived Induced Pluripotent Stem Cells. 61
31195238 2019
45
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
46
Dimerization defective MODY mutations of hepatocyte nuclear factor 4α. 61
30648609 2019
47
HNF4α is a novel regulator of intestinal glucose-dependent insulinotropic polypeptide. 61
30862908 2019
48
Novel mechanisms of regulation of the expression and transcriptional activity of hepatocyte nuclear factor 4α. 61
30191603 2019
49
Derivation and molecular characterization of pancreatic differentiated MODY1-iPSCs. 61
29990710 2018
50
NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features. 61
28664602 2018

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 Position
1 HNF4A HNF4A, 1-BP DEL, PHE75T Deletion Pathogenic 9214 GRCh37:
GRCh38:
2 HNF4A NM_175914.4(HNF4A):c.427-1G>A SNV Pathogenic 587398 rs1568731279 GRCh37: 20:43043146-43043146
GRCh38: 20:44414506-44414506
3 HNF4A NM_175914.4(HNF4A):c.582+1G>A SNV Pathogenic 617652 rs1392795567 GRCh37: 20:43043303-43043303
GRCh38: 20:44414663-44414663
4 HNF4A NM_175914.4(HNF4A):c.583-2del Deletion Pathogenic 9215 rs1600731198 GRCh37: 20:43047063-43047063
GRCh38: 20:44418423-44418423
5 HNF4A NM_175914.4(HNF4A):c.763C>T (p.Gln255Ter) SNV Pathogenic 9210 rs137853334 GRCh37: 20:43048453-43048453
GRCh38: 20:44419813-44419813
6 HNF4A NM_175914.4(HNF4A):c.421C>T (p.Arg141Ter) SNV Pathogenic 9211 rs137853335 GRCh37: 20:43042435-43042435
GRCh38: 20:44413795-44413795
7 HNF4A NM_175914.4(HNF4A):c.1052T>G (p.Met351Arg) SNV Pathogenic 9216 rs137853338 GRCh37: 20:43052883-43052883
GRCh38: 20:44424243-44424243
8 HNF4A NM_175914.4(HNF4A):c.265C>T (p.Gln89Ter) SNV Pathogenic 617653 rs1568724014 GRCh37: 20:43036061-43036061
GRCh38: 20:44407421-44407421
9 HNF4A NM_175914.4(HNF4A):c.340C>T (p.Arg114Trp) SNV Pathogenic 9212 rs137853336 GRCh37: 20:43042354-43042354
GRCh38: 20:44413714-44413714
10 HNF4A NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic 156152 rs587777732 GRCh37: 20:43034835-43034835
GRCh38: 20:44406195-44406195
11 HNF4A NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic 156152 rs587777732 GRCh37: 20:43034835-43034835
GRCh38: 20:44406195-44406195
12 HNF4A NM_000457.5(HNF4A):c.998G>A (p.Arg333His) SNV Pathogenic 586023 rs1375557127 GRCh37: 20:43052763-43052763
GRCh38: 20:44424123-44424123
13 HNF4A NM_000457.5(HNF4A):c.834G>C (p.Glu278Asp) SNV Likely pathogenic 36360 rs193922477 GRCh37: 20:43048458-43048458
GRCh38: 20:44419818-44419818
14 HNF4A NM_000457.5(HNF4A):c.991C>T (p.Arg331Cys) SNV Likely pathogenic 36364 rs193922479 GRCh37: 20:43052756-43052756
GRCh38: 20:44424116-44424116
15 HNF4A NM_175914.4(HNF4A):c.869G>A (p.Arg290His) SNV Likely pathogenic 804918 rs1191912908 GRCh37: 20:43052700-43052700
GRCh38: 20:44424060-44424060
16 HNF4A HNF4A deletion Deletion Likely pathogenic 36366 GRCh37:
GRCh38:
17 HNF4A NM_175914.4(HNF4A):c.201del (p.Lys68fs) Deletion Likely pathogenic 617649 rs1385251852 GRCh37: 20:43034848-43034848
GRCh38: 20:44406208-44406208
18 HNF4A NM_175914.4(HNF4A):c.281_282delinsC (p.Arg94fs) Indel Likely pathogenic 36348 rs193922471 GRCh37: 20:43036077-43036078
GRCh38: 20:44407437-44407438
19 HNF4A NM_175914.4(HNF4A):c.553G>C (p.Ala185Pro) SNV Likely pathogenic 36354 rs193922474 GRCh37: 20:43043273-43043273
GRCh38: 20:44414633-44414633
20 HNF4A NM_175914.4(HNF4A):c.575_582+10del Deletion Likely pathogenic 36355 rs193922475 GRCh37: 20:43043292-43043309
GRCh38: 20:44414652-44414669
21 HNF4A NM_175914.4(HNF4A):c.660_662delinsTCAA (p.Leu221fs) Indel Likely pathogenic 36356 rs193922476 GRCh37: 20:43047142-43047144
GRCh38: 20:44418502-44418504
22 HNF4A NM_175914.4(HNF4A):c.1097C>G (p.Pro366Arg) SNV Likely pathogenic 36342 rs193922469 GRCh37: 20:43057008-43057008
GRCh38: 20:44428368-44428368
23 HNF4A NM_175914.4(HNF4A):c.1187G>C (p.Cys396Ser) SNV Likely pathogenic 36344 rs193922470 GRCh37: 20:43057098-43057098
GRCh38: 20:44428458-44428458
24 HNF4A NM_001287183.1(HNF4A):c.461_463AGA[1] (p.Lys155del) Microsatellite Likely pathogenic 435437 rs1280663753 GRCh37: 20:43043188-43043190
GRCh38: 20:44414548-44414550
25 HNF4A NM_175914.4(HNF4A):c.740T>C (p.Leu247Pro) SNV Likely pathogenic 435438 rs1555816654 GRCh37: 20:43048430-43048430
GRCh38: 20:44419790-44419790
26 HNF4A NM_175914.4(HNF4A):c.640T>A (p.Ser214Thr) SNV Likely pathogenic 397578 rs1060499693 GRCh37: 20:43047122-43047122
GRCh38: 20:44418482-44418482
27 HNF4A NM_175914.4(HNF4A):c.381G>A (p.Leu127=) SNV Conflicting interpretations of pathogenicity 36350 rs193922473 GRCh37: 20:43042395-43042395
GRCh38: 20:44413755-44413755
28 HNF4A NM_175914.4(HNF4A):c.426+6G>A SNV Conflicting interpretations of pathogenicity 36352 rs182980547 GRCh37: 20:43042446-43042446
GRCh38: 20:44413806-44413806
29 HNF4A NM_175914.4(HNF4A):c.1321A>G (p.Ile441Val) SNV Uncertain significance 36345 rs147638455 GRCh37: 20:43058267-43058267
GRCh38: 20:44429627-44429627
30 HNF4A NM_175914.4(HNF4A):c.826+30dup Duplication Uncertain significance 36361 rs193922478 GRCh37: 20:43048545-43048546
GRCh38: 20:44419905-44419906
31 HNF4A NM_000457.5(HNF4A):c.*35C>A SNV Uncertain significance 899353 GRCh37: 20:43058340-43058340
GRCh38: 20:44429700-44429700
32 HNF4A NM_175914.4(HNF4A):c.1321A>G (p.Ile441Val) SNV Uncertain significance 36345 rs147638455 GRCh37: 20:43058267-43058267
GRCh38: 20:44429627-44429627
33 HNF1A NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) SNV Uncertain significance 667246 rs759717253 GRCh37: 12:121437142-121437142
GRCh38: 12:120999339-120999339
34 HNF4A NM_000457.5(HNF4A):c.488G>A (p.Arg163Gln) SNV Uncertain significance 972784 GRCh37: 20:43042436-43042436
GRCh38: 20:44413796-44413796
35 HNF4A NM_000457.5(HNF4A):c.655C>A (p.Leu219Met) SNV Uncertain significance 972785 GRCh37: 20:43047071-43047071
GRCh38: 20:44418431-44418431
36 HNF4A NM_175914.4(HNF4A):c.791A>G (p.Tyr264Cys) SNV Uncertain significance 633668 rs748714111 GRCh37: 20:43048481-43048481
GRCh38: 20:44419841-44419841
37 HNF4A NM_000457.5(HNF4A):c.992G>T (p.Arg331Leu) SNV Uncertain significance 972810 GRCh37: 20:43052757-43052757
GRCh38: 20:44424117-44424117
38 HNF4A NM_175914.4(HNF4A):c.863G>A (p.Arg288Gln) SNV Uncertain significance 632373 rs371124358 GRCh37: 20:43052694-43052694
GRCh38: 20:44424054-44424054
39 HNF4A NM_175914.4(HNF4A):c.*4G>A SNV Uncertain significance 36346 rs193922468 GRCh37: 20:43058309-43058309
GRCh38: 20:44429669-44429669
40 HNF4A NM_175914.4(HNF4A):c.427-5C>T SNV Uncertain significance 211146 rs374703326 GRCh37: 20:43043142-43043142
GRCh38: 20:44414502-44414502
41 HNF4A NM_000457.5(HNF4A):c.1356C>T (p.Ala452=) SNV Uncertain significance 898237 GRCh37: 20:43058236-43058236
GRCh38: 20:44429596-44429596
42 HNF4A NM_000457.5(HNF4A):c.*168G>T SNV Uncertain significance 896688 GRCh37: 20:43058473-43058473
GRCh38: 20:44429833-44429833
43 HNF4A NM_000457.5(HNF4A):c.*217C>T SNV Uncertain significance 896689 GRCh37: 20:43058522-43058522
GRCh38: 20:44429882-44429882
44 HNF4A NM_000457.5(HNF4A):c.*2297C>A SNV Uncertain significance 897369 GRCh37: 20:43060602-43060602
GRCh38: 20:44431962-44431962
45 HNF4A NM_000457.5(HNF4A):c.*1809C>G SNV Uncertain significance 898453 GRCh37: 20:43060114-43060114
GRCh38: 20:44431474-44431474
46 HNF4A NM_000457.5(HNF4A):c.*2511A>G SNV Uncertain significance 898527 GRCh37: 20:43060816-43060816
GRCh38: 20:44432176-44432176
47 HNF4A NM_000457.5(HNF4A):c.628G>A (p.Glu210Lys) SNV Uncertain significance 899287 GRCh37: 20:43043282-43043282
GRCh38: 20:44414642-44414642
48 HNF4A NM_000457.5(HNF4A):c.*993G>A SNV Uncertain significance 895404 GRCh37: 20:43059298-43059298
GRCh38: 20:44430658-44430658
49 HNF4A NM_000457.5(HNF4A):c.*1013G>A SNV Uncertain significance 895405 GRCh37: 20:43059318-43059318
GRCh38: 20:44430678-44430678
50 HNF4A NM_000457.5(HNF4A):c.*1826G>A SNV Uncertain significance 895467 GRCh37: 20:43060131-43060131
GRCh38: 20:44431491-44431491

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

72
# 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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