MODY1
MCID: MTR018
MIFTS: 61

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

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic 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 53 29 6 38 72
Mody1 57 12 53 74
Mild Juvenile Diabetes Mellitus 57 12 74
Mody Type 1 12 53 74
Maturity-Onset Diabetes of the Young Type 1 12 15
Diabetes Mellitus Type 2 12 75
Mody, Type I 57 13
Diabetes of the Young, Maturity-Onset, Type 1 40
Type 1 Maturity-Onset Diabetes of the Young 53
Maturity-Onset Diabetes of the Young 1 74
Diabetes Mellitus Mody Type 1 53
Mody Hnf4a Related 53
Mody, Type 1 57
Mody-1 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (20q12-q13.1)


HPO:

32
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 42 C1852093
UMLS 72 C1852093

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

UniProtKB/Swiss-Prot : 74 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 insulinoma and coronary heart disease 1. 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 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. The drugs Calcium carbonate and Oxymetazoline have been mentioned in the context of this disorder. Affiliated tissues include endothelial, heart and kidney, and related phenotypes are flushing and maturity-onset diabetes of the young

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

Wikipedia : 75 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 225)
# Related Disease Score Top Affiliating Genes
1 insulinoma 30.4 PDX1 INS GCK
2 coronary heart disease 1 30.1 RETN INS ADIPOQ
3 arteries, anomalies of 30.1 LEP INS ADIPOQ
4 diabetes mellitus, permanent neonatal 30.0 PDX1 INS GCK
5 fatty liver disease 29.9 LEP INS ADIPOQ
6 hyperinsulinism 29.8 LEP INS HNF4A GCK
7 monogenic diabetes 29.7 PDX1 INS HNF4A HNF1A GCK
8 proteasome-associated autoinflammatory syndrome 1 29.4 RETN INS ADIPOQ
9 lipid metabolism disorder 29.4 RETN LEP INS ADIPOQ
10 abdominal obesity-metabolic syndrome 1 29.4 LEP INS ADIPOQ
11 acanthosis nigricans 29.3 LEP INS ADIPOQ
12 sleep apnea 29.3 LEP INS ADIPOQ
13 maturity-onset diabetes of the young, type 2 29.3 PDX1 INS HNF4A HNF1B HNF1A GCK
14 neonatal diabetes mellitus 28.9 PDX1 NEUROD1 INS HNF1B GCK
15 hypertension, essential 28.9 RETN LEP INS ADIPOQ
16 maturity-onset diabetes of the young, type 3 28.5 PDX1 NEUROD1 INS HNF4A HNF1B HNF1A
17 gestational diabetes 28.3 RETN LEP INS HNF4A GCK ADIPOQ
18 hyperglycemia 28.2 PDX1 LEP INS HNF1A GCK DPP4
19 maturity-onset diabetes of the young 27.9 PDX1 NEUROD1 INS HNF4A HNF1B HNF1A
20 body mass index quantitative trait locus 11 27.6 RETN LEP INS GCK DPP4 ADIPOQ
21 glucose intolerance 27.6 RETN LEP INS GCK DPP4 ADIPOQ
22 diabetes mellitus, noninsulin-dependent 25.0 RETN PDX1 NEUROD1 LEP INS HNF4A
23 diabetes mellitus 24.9 RETN PDX1 NEUROD1 LEP INS HNF4A
24 rare diabetes mellitus type 2 12.4
25 alstrom syndrome 11.3
26 laron syndrome 11.3
27 maturity-onset diabetes of the young, type 14 10.4 HNF1A GCK
28 hypoglycemia 10.4
29 type 1 diabetes mellitus 11 10.4 INS HNF1A
30 hyperlipoproteinemia, type iii 10.4
31 coronary artery anomaly 10.4
32 neuropathy 10.4
33 microvascular complications of diabetes 3 10.3
34 microvascular complications of diabetes 4 10.3
35 microvascular complications of diabetes 5 10.3
36 microvascular complications of diabetes 6 10.3
37 microvascular complications of diabetes 7 10.3
38 periodontitis 10.3
39 intestinal atresia 10.3 PDX1 GCK
40 periodontitis, chronic 10.3
41 body mass index quantitative trait locus 1 10.3
42 autonomic neuropathy 10.3
43 vascular disease 10.3
44 type 1 diabetes mellitus 7 10.3 NEUROD1 INS
45 hyperinsulinemic hypoglycemia 10.2 INS HNF4A GCK
46 atherosclerosis susceptibility 10.2
47 peripheral vascular disease 10.2
48 ischemia 10.2
49 diabetic neuropathy 10.2
50 angina pectoris 10.2

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:

32
# Description HPO Frequency HPO Source Accession
1 flushing 32 HP:0031284
2 maturity-onset diabetes of the young 32 HP:0004904

Symptoms via clinical synopsis from OMIM:

57
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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 ADIPOQ CNBP DPP4 GCK HNF1A HNF1B
2 homeostasis/metabolism MP:0005376 10.1 ADIPOQ DPP4 GCK HNF1A HNF1B HNF4A
3 cellular MP:0005384 10.09 ADIPOQ CNBP HNF1A HNF4A INS KDM4C
4 endocrine/exocrine gland MP:0005379 10.06 ADIPOQ DPP4 GCK HNF1A HNF1B INS
5 liver/biliary system MP:0005370 9.91 ADIPOQ GCK HNF1A HNF1B HNF4A INS
6 mortality/aging MP:0010768 9.9 ADIPOQ CNBP GCK HNF1A HNF1B HNF4A
7 adipose tissue MP:0005375 9.85 ADIPOQ HNF1A INS LEP RETN
8 muscle MP:0005369 9.43 ADIPOQ HNF1A HNF1B INS LEP PDX1
9 renal/urinary system MP:0005367 9.23 ADIPOQ GCK HNF1A HNF1B INS LEP

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 885)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium carbonate Approved, Investigational Phase 4 471-34-1
2
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
3
Phenylephrine Approved Phase 4 59-42-7 6041
4
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
5
Clonidine Approved Phase 4 4205-90-7 2803
6
Adalimumab Approved Phase 4 331731-18-1 16219006
7
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 5271565 637568
8
Doxazosin Approved Phase 4 74191-85-8 3157
9
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
10
AT-101 Approved, Investigational Phase 4 90141-22-3, 652-67-5 12597
11
Thrombin Approved, Investigational Phase 4
12
Glucagon Approved Phase 4 16941-32-5
13
Olmesartan Approved, Investigational Phase 4 144689-63-4, 144689-24-7 130881 158781
14
Simvastatin Approved Phase 4 79902-63-9 54454
15
Atorvastatin Approved Phase 4 134523-00-5 60823
16
Glyburide Approved Phase 4 10238-21-8 3488
17
Pramlintide Approved, Investigational Phase 4 151126-32-8
18
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
19
Lactulose Approved Phase 4 4618-18-2 11333
20
Lacidipine Approved, Investigational Phase 4 103890-78-4
21
Fenofibrate Approved Phase 4 49562-28-9 3339
22
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
23
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
24
Caffeine Approved Phase 4 58-08-2 2519
25
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
26
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
27
Gliquidone Approved, Investigational Phase 4 33342-05-1 91610
28
Indapamide Approved Phase 4 26807-65-8 3702
29
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
30
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 5282452 6366718
31
Tolbutamide Approved, Investigational Phase 4 64-77-7 5505
32
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
33
Cholecystokinin Approved, Investigational Phase 4 9011-97-6
34
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
35
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
36
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
37
Acetaminophen Approved Phase 4 103-90-2 1983
38
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
39
Trimetazidine Approved, Investigational Phase 4 5011-34-7
40
Eplerenone Approved Phase 4 107724-20-9 150310 443872
41
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
42
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
43
Promethazine Approved, Investigational Phase 4 60-87-7 4927
44
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
45
Ribavirin Approved Phase 4 36791-04-5 37542
46
Nitazoxanide Approved, Investigational, Vet_approved Phase 4 55981-09-4 41684
47
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
48
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
49
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
50
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719

Interventional clinical trials:

(show top 50) (show all 6165)
# Name Status NCT ID Phase Drugs
1 Pharmacodynamics Study to Investigate the Effect of Evogliptin on Bone Metabolism in Healthy Volunteers Unknown status NCT02587975 Phase 4 Evogliptin
2 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
3 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
4 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
5 A Randomized, Controlled Study on Calcium Channel Blocker Versus Angiotensin II Antagonists in the Hypertensive Patients With Type 2 Diabetes Mellitus Under the Inadequately Controlled Blood Pressure With Angiotension II Antagonists Unknown status NCT00144144 Phase 4 Angiotensin II receptor antagonists, Calcium channel blocker
6 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
7 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
8 Metabolomic Variations in the Saxagliptin-Treated Type 2 Diabetes Mellitus Patients Unknown status NCT01768208 Phase 4 Saxagliptin
9 Beijing Chao-yang Hospital, Capital Medical University Unknown status NCT02583438 Phase 4 Saxagliptin (Bristol-Myers Squibb Company)
10 Effect of Gemigliptin or Acarbose on Endothelial Function in Type 2 DM Patients (GetUp Trial) Unknown status NCT02500329 Phase 4 Gemigliptin;Acarbose
11 Glucagon Like Peptides Receptors Expression in the Stomach of Diabetes Type 2 Unknown status NCT00473733 Phase 4
12 The Swiss Glucose Variability Study Unknown status NCT01426737 Phase 4 Vildagliptin
13 the Effect of Vitamin D on the Serum Thioredoxin, TBP-2, Thioredoxin Reductase, Gene Expression of TBP-2 in Patients With Type II Diabetes Unknown status NCT01876563 Phase 4
14 ACE/ACE2 Ratio in Diabetic Patients Treated With Antihypertensive Drugs Unknown status NCT00192803 Phase 4 candesartan
15 Multi-Center, Randomized, Open Label Study of the Efficacy of Cilostazol Versus Aspirin for Primary Prevention of Atherosclerotic Events With Korean Type 2 DM Patients Unknown status NCT00886574 Phase 4 Cilostazol;Aspirin
16 A Prospective, Multi-center, Randomized, Controlled Study to Evaluate the Effect of DiPeptidyl-Peptidase 4 Inhibitor on Vascular Healing After Biodegradable Polymer Based Sirolimus Eluting Stent Implantation in Diabetic Patients: OCT Study (DIAMOND-OCT) Unknown status NCT02802644 Phase 4 Sitagliptin;Non DPP-4 Inhibitor
17 Effect of Adding Vildagliptin on Beta Cell Function and Cardiovascular Risk Markers in Patients With Moderate Metabolic Control During Metformin Monotherapy Unknown status NCT01565096 Phase 4 Metformin;Metformin;Vildagliptin;Glimepiride
18 Effectiveness and Tolerability of Early Initiation of Combined Lipid -Lowering Therapy Included Simvastatin and Fenofibrate vs Simvastatin Alone in Patients With Type 2 Diabetes Mellitus, Hypertriglyceridemia and Acute Coronary Syndrome Unknown status NCT02015988 Phase 4 Fenofibrate;Simvastatin
19 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
20 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
21 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
22 Treatment With Continuous Sub-cutaneous Insulin Infusion Via a Portable Pump Versus Discontinuous Insulin Infusion Via Multiple-injections in Type 2 Diabetes: Study of Insulin Sensitivity in the 2 Types of Treatment Unknown status NCT02048189 Phase 4 LEVEMIR;APIDRA
23 A 24-Week, National, Single-Centre, Open-Labelled, Randomised, Parallel-Group Trial Comparing Energy Expenditure With Insulin Detemir Versus NPH Insulin Using a Basal-Bolus Regimen With Insulin Aspart as the Mealtime Insulin in Subjects With Type 2 Diabetes Unknown status NCT00788840 Phase 4 Insulatard;Detemir
24 Safety of Add on Aliskiren to ACEI and ARB Treatment in Type 2 Diabetes With Nephropathy Unknown status NCT00949351 Phase 4 Aliskiren 300mg/d
25 Continuous Subcutaneous Insulin Infusion strAtegy Versus Multiple Daily Insulin Injections strAtegy Unknown status NCT01574508 Phase 4 Transient Continuous Subcutaneous Insulin Infusion;Transient Multiple Daily Insulin Injections
26 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
27 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
28 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
29 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
30 Vascular Benefits of Adding CarvedilolCR to Type2 Diabetic Patients on ACEI:Effects on Oxidative Stress and Inflammation. Unknown status NCT00430040 Phase 4 carvedilol;lisinopril
31 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
32 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
33 A Prospective, Randomized, Two Period, With an Intermediate Wash Out Period, Cross-over Study to Compare the Effects of Either Combined Therapy With Ramipril and Clopidogrel or Ramipril Monotherapy on Oxidative Stress, Vascular Inflammation and Endothelial Dysfunction in Patients With Type 2 Diabetes and Diabetic Nephropathy Unknown status NCT01743014 Phase 4 Ramipril;Clopidogrel
34 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
35 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
36 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
37 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
38 Basal-bolus Insulin Therapy With Insulin Degludec and Insulin Aspart Versus Standard Therapy for the Inpatient Management of Type 2 Diabetes: the IDA2 Study Unknown status NCT03244241 Phase 4 Insulin Degludec 100 UNT/ML [Tresiba]
39 Short Term Diet Intervention in Newly Diagnosed Type 2 Diabetes. a Randomised, Multicentric, Controlled, Clinical Trial Unknown status NCT01409330 Phase 4
40 Study of Comparison the Treatment Effect Between Gastric Bypass and Exenatide in Type 2 Diabetes Unknown status NCT01435980 Phase 4 Exenatide
41 Human Insulin Analogs: Evaluation of Inflammatory mRNA Expression of Macrophages and Endothelial Function of Short-acting Insulin - HERMES Pilot Study Unknown status NCT01417897 Phase 4 Insulin glulisine;Insulin aspart;Regular human insulin
42 The Impact of Omega-3 Supplementation on Acylation Stimulating Protein(ASP), Retinol-binding Protein 4 (RBP4) and Lipocalin-2 (LCN2) Gene Expression of ASP Receptor (C5L2) in WBC of Patient With Diabetes Type 2 Unknown status NCT01478776 Phase 4
43 Effect of Glimepiride, Vildagliptin, Pioglitazone and Canagliflozin on Durability of Glycemic Control After Metformin Failure in Type 2 Diabetes Unknown status NCT02142309 Phase 4 Glimepiride;Vildagliptin;Pioglitazone;Canagliflozin
44 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
45 Insulin Therapy in the Inpatient Management of Cirrhotic Patients With Type 2 Diabetes Unknown status NCT01143948 Phase 4 Glargine & Glulisine;Regular insulin;NPH & regular insulin
46 The Comparative Study of Dipeptidyl Peptidase-IV Inhibitor and Sulfonylurea on the Effect of Improving Glucose Variability and Oxidative Stress in Type 2 Diabetic Patients With Inadequate Glycemic Control on Metformin Unknown status NCT00699322 Phase 4 Sitagliptin;Glimepiride
47 Explore the Efficacy of Acarbose and Metformin on Blood Glucose Fluctuation When Combined With Premix Insulin in Chinese Type 2 Diabetes by CGMS Unknown status NCT02438397 Phase 4 premix insulin;metformin;Acarbose
48 An Investigation Into The Anti-hypertensive And Potential Anti-inflammatory Actions Of Dapagliflozin Unknown status NCT02433678 Phase 4 dapagliflozin;Placebo
49 Effect of aSpirin Versus CilOstazol for Inhibition of Antiplatelet aggRegaTion in Type 2 DM Patients Unknown status NCT02933788 Phase 4 Cilostazol;Acetylsalicylic acid
50 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

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:

41
Endothelial, Heart, Kidney, Testes, Liver, Bone, Skeletal Muscle

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 160)
# Title Authors PMID Year
1
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. 38 8 71
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. 38 8 71
9920109 1999
3
Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. 38 8 71
9294105 1997
4
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) 38 8 71
8945471 1996
5
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 8 71
17407387 2007
6
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 8 71
11575290 2001
7
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. 38 8
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. 38 71
11435618 2001
9
Molecular Genetics of Maturity-onset Diabetes of the Young. 38 8
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. 38 71
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. 38 8
8632993 1996
12
Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. 38 8
7789636 1995
13
Maturity-Onset Diabetes of the Young Overview 71
29792621 2018
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. 71
16917892 2006
15
[Scanning the HNF4A gene mutation from Chinese pedigrees with early- and/or multiple-onset diabetes]. 71
16883527 2006
16
Identification of new mutations in the hepatocyte nuclear factor 4alpha gene among families with early onset Type 2 diabetes mellitus. 71
10227563 1999
17
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. 8
8094595 1993
18
Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance. 8
1539597 1992
19
Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. 8
1899928 1991
20
Scope and heterogeneous nature of MODY. 8
2404717 1990
21
Maturity-onset diabetes of the young (MODY). 8
2689121 1989
22
Possible localization of the gene(s) for juvenile diabetes mellitus (JDM) to the HLA region of chromosome 6. 8
752490 1978
23
HNF4A Haploinsufficiency in MODY1 Abrogates Liver and Pancreas Differentiation from Patient-Derived Induced Pluripotent Stem Cells. 38
31195238 2019
24
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. 38
30325586 2019
25
Dimerization defective MODY mutations of hepatocyte nuclear factor 4α. 38
30648609 2019
26
HNF4α is a novel regulator of intestinal glucose-dependent insulinotropic polypeptide. 38
30862908 2019
27
Novel mechanisms of regulation of the expression and transcriptional activity of hepatocyte nuclear factor 4α. 38
30191603 2019
28
Derivation and molecular characterization of pancreatic differentiated MODY1-iPSCs. 38
29990710 2018
29
NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features. 38
28664602 2018
30
Probing the missing mature β-cell proteomic landscape in differentiating patient iPSC-derived cells. 38
28684784 2017
31
Hypoxia reduces HNF4α/MODY1 protein expression in pancreatic β-cells by activating AMP-activated protein kinase. 38
28364040 2017
32
Efficacy and safety of alogliptin in a pediatric patient with maturity-onset diabetes of the young type 1. 38
28804210 2017
33
The Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice. 38
27571483 2016
34
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. 38
27420379 2016
35
The Drosophila HNF4 nuclear receptor promotes glucose-stimulated insulin secretion and mitochondrial function in adults. 38
27185732 2016
36
Functional characteristics of reversibly immortalized hepatic progenitor cells derived from mouse embryonic liver. 38
25301359 2014
37
Multidomain integration in the structure of the HNF-4α nuclear receptor complex. 38
23485969 2013
38
Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young. 38
23306198 2013
39
Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2). 38
23139355 2013
40
Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families. 38
23652628 2013
41
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 38
22802087 2012
42
Characterization of beta cell and incretin function in patients with MODY1 (HNF4A MODY) and MODY3 (HNF1A MODY) in a Swedish patient collection. 38
21761282 2012
43
Localization of hepatocyte nuclear factor-4α in the nucleolus and nucleus is regulated by its C-terminus. 38
24843605 2012
44
Anks4b, a novel target of HNF4α protein, interacts with GRP78 protein and regulates endoplasmic reticulum stress-induced apoptosis in pancreatic β-cells. 38
22589549 2012
45
MED25 is a mediator component of HNF4α-driven transcription leading to insulin secretion in pancreatic beta-cells. 38
22952853 2012
46
Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. 38
21214702 2011
47
A systematic analysis of the 3'UTR of HNF4A mRNA reveals an interplay of regulatory elements including miRNA target sites. 38
22140441 2011
48
Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes. 38
21183721 2011
49
Sequencing MODY1-6 genes in Uyghur Early-onset diabetes pedigree. 38
21584173 2011
50
Double heterozygous mutations involving both HNF1A/MODY3 and HNF4A/MODY1 genes: a case report. 38
20705777 2010

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 all 42)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HNF4A HNF4A, 1-BP DEL, PHE75T deletion Pathogenic
2 HNF4A HNF4A, IVS5, DEL A, -2 deletion Pathogenic
3 HNF4A NM_000457.4(HNF4A): c.1118T> G (p.Met373Arg) single nucleotide variant Pathogenic rs137853338 20:43052883-43052883 20:44424243-44424243
4 HNF4A NM_000457.4(HNF4A): c.829C> T (p.Gln277Ter) single nucleotide variant Pathogenic rs137853334 20:43048453-43048453 20:44419813-44419813
5 HNF4A NM_000457.4(HNF4A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs137853335 20:43042435-43042435 20:44413795-44413795
6 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 20:43034835-43034835 20:44406195-44406195
7 HNF4A NM_000457.4(HNF4A): c.493-1G> A single nucleotide variant Pathogenic 20:43043146-43043146 20:44414506-44414506
8 HNF4A NM_000457.4(HNF4A): c.331C> T (p.Gln111Ter) single nucleotide variant Pathogenic 20:43036061-43036061 20:44407421-44407421
9 HNF4A NM_000457.4(HNF4A): c.648+1G> A single nucleotide variant Pathogenic rs1392795567 20:43043303-43043303 20:44414663-44414663
10 HNF4A NM_000457.4(HNF4A): c.267del (p.Lys90fs) deletion Likely pathogenic 20:43034849-43034849 20:44406209-44406209
11 HNF4A HNF4A deletion deletion Likely pathogenic
12 HNF4A NM_000457.4(HNF4A): c.619G> C (p.Ala207Pro) single nucleotide variant Likely pathogenic rs193922474 20:43043273-43043273 20:44414633-44414633
13 HNF4A NM_000457.4(HNF4A): c.641_648+10del18 deletion Likely pathogenic rs193922475 20:43043295-43043312 20:44414655-44414672
14 HNF4A NM_000457.4(HNF4A): c.726_728delinsTCAA (p.Leu243fs) indel Likely pathogenic rs193922476 20:43047142-43047144 20:44418502-44418504
15 HNF4A NM_000457.4(HNF4A): c.834G> C (p.Glu278Asp) single nucleotide variant Likely pathogenic rs193922477 20:43048458-43048458 20:44419818-44419818
16 HNF4A NM_000457.4(HNF4A): c.1253G> C (p.Cys418Ser) single nucleotide variant Likely pathogenic rs193922470 20:43057098-43057098 20:44428458-44428458
17 HNF4A NM_000457.4(HNF4A): c.347_348delinsC (p.Arg116fs) indel Likely pathogenic rs193922471 20:43036077-43036078 20:44407437-44407438
18 HNF4A NM_000457.4(HNF4A): c.1163C> G (p.Pro388Arg) single nucleotide variant Likely pathogenic rs193922469 20:43057008-43057008 20:44428368-44428368
19 HNF4A NM_000457.4(HNF4A): c.706T> A (p.Ser236Thr) single nucleotide variant Likely pathogenic rs1060499693 20:43047122-43047122 20:44418482-44418482
20 HNF4A NM_000457.4(HNF4A): c.536_538AGA[1] (p.Lys180del) short repeat Likely pathogenic rs1280663753 20:43043193-43043195 20:44414553-44414555
21 HNF4A NM_000457.4(HNF4A): c.806T> C (p.Leu269Pro) single nucleotide variant Likely pathogenic rs1555816654 20:43048430-43048430 20:44419790-44419790
22 HNF4A NM_000457.4(HNF4A): c.406C> T (p.Arg136Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853336 20:43042354-43042354 20:44413714-44413714
23 HNF4A NM_000457.4(HNF4A): c.998G> A (p.Arg333His) single nucleotide variant Conflicting interpretations of pathogenicity rs1375557127 20:43052763-43052763 20:44424123-44424123
24 HNF4A NM_000457.4(HNF4A): c.492+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs182980547 20:43042446-43042446 20:44413806-44413806
25 HNF4A NM_000457.4(HNF4A): c.505G> A (p.Val169Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs142204928 20:43043159-43043159 20:44414519-44414519
26 HNF4A NM_000457.4(HNF4A): c.150G> A (p.Ala50=) single nucleotide variant Conflicting interpretations of pathogenicity rs41282026 20:43034732-43034732 20:44406092-44406092
27 HNF4A NM_000457.4(HNF4A): c.991C> T (p.Arg331Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922479 20:43052756-43052756 20:44424116-44424116
28 HNF4A NM_000457.4(HNF4A): c.119C> T (p.Thr40Met) single nucleotide variant Uncertain significance 20:43034701-43034701 20:44406061-44406061
29 HNF4A NM_000457.4(HNF4A): c.892+30dup duplication Uncertain significance rs193922478 20:43048546-43048546 20:44419906-44419906
30 HNF4A NM_000457.4(HNF4A): c.1387A> G (p.Ile463Val) single nucleotide variant Uncertain significance rs147638455 20:43058267-43058267 20:44429627-44429627
31 HNF4A NM_000457.4(HNF4A): c.*4G> A single nucleotide variant Uncertain significance rs193922468 20:43058309-43058309 20:44429669-44429669
32 HNF4A NM_000457.4(HNF4A): c.829C> G (p.Gln277Glu) single nucleotide variant Uncertain significance rs137853334 20:43048453-43048453 20:44419813-44419813
33 HNF4A NM_000457.4(HNF4A): c.290G> A (p.Arg97Lys) single nucleotide variant Uncertain significance rs1131692187 20:43034872-43034872 20:44406232-44406232
34 HNF4A NM_000457.4(HNF4A): c.929G> A (p.Arg310Gln) single nucleotide variant Uncertain significance 20:43052694-43052694 20:44424054-44424054
35 HNF4A NM_000457.4(HNF4A): c.447G> A (p.Leu149=) single nucleotide variant Likely benign rs193922473 20:43042395-43042395 20:44413755-44413755
36 HNF4A NM_000457.4(HNF4A): c.762C> T (p.His254=) single nucleotide variant Likely benign rs150078978 20:43048386-43048386 20:44419746-44419746
37 HNF4A NM_000457.4(HNF4A): c.906G> A (p.Leu302=) single nucleotide variant Likely benign rs181559088 20:43052671-43052671 20:44424031-44424031
38 HNF4A NM_000457.4(HNF4A): c.990G> T (p.Ser330=) single nucleotide variant Likely benign rs140146223 20:43052755-43052755 20:44424115-44424115
39 HNF4A NM_000457.4(HNF4A): c.735A> G (p.Leu245=) single nucleotide variant Benign/Likely benign rs139591750 20:43047151-43047151 20:44418511-44418511
40 HNF4A NM_000457.4(HNF4A): c.810C> T (p.Asp270=) single nucleotide variant Benign/Likely benign rs6031592 20:43048434-43048434 20:44419794-44419794
41 HNF4A NM_000457.4(HNF4A): c.459T> C (p.Asn153=) single nucleotide variant Benign/Likely benign rs113308087 20:43042407-43042407 20:44413767-44413767
42 HNF4A NM_000457.4(HNF4A): c.1203C> T (p.Asn401=) single nucleotide variant Benign/Likely benign rs61737145 20:43057048-43057048 20:44428408-44428408

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

74
# 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 PDX1 NEUROD1 LEP INS HNF4A HNF1B
2
Show member pathways
12.5 RETN LEP INS ADIPOQ
3 12.34 PDX1 NEUROD1 INS HNF4A HNF1A ADIPOQ
4
Show member pathways
12.19 LEP INS HNF4A ADIPOQ
6
Show member pathways
11.98 LEP INS DPP4
7 11.86 PDX1 NEUROD1 INS HNF1B
8 11.84 RETN LEP INS HNF1A ADIPOQ
9
Show member pathways
11.79 PDX1 NEUROD1 INS HNF4A HNF1B HNF1A
10
Show member pathways
11.5 PDX1 NEUROD1 INS HNF4A HNF1B HNF1A
11 11.45 LEP HNF4A GCK
12 11.3 PDX1 INS HNF4A HNF1A GCK
13
Show member pathways
11.21 PDX1 NEUROD1 INS HNF4A HNF1B HNF1A
14 10.93 LEP ADIPOQ
15 10.85 LEP ADIPOQ
16 10.4 HNF4A HNF1A

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

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.93 PDX1 NEUROD1 HNF4A HNF1B HNF1A CNBP
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.89 PDX1 LEP HNF1B CNBP
3 positive regulation of cell proliferation GO:0008284 9.88 PDX1 LEP KDM4C INS DPP4 CNBP
4 response to hypoxia GO:0001666 9.81 LEP DPP4 ADIPOQ
5 liver development GO:0001889 9.74 PDX1 HNF1B HNF1A
6 response to glucose GO:0009749 9.72 NEUROD1 HNF4A HNF1B HNF1A ADIPOQ
7 positive regulation of glucose import GO:0046326 9.65 INS ADIPOQ
8 pancreas development GO:0031016 9.65 PDX1 HNF1B HNF1A
9 glucose metabolic process GO:0006006 9.65 PDX1 LEP INS GCK ADIPOQ
10 regulation of Wnt signaling pathway GO:0030111 9.64 HNF1B HNF1A
11 hindbrain development GO:0030902 9.63 NEUROD1 HNF1B
12 signal transduction involved in regulation of gene expression GO:0023019 9.62 NEUROD1 HNF4A
13 nitric oxide mediated signal transduction GO:0007263 9.62 PDX1 NEUROD1
14 positive regulation of insulin receptor signaling pathway GO:0046628 9.61 LEP INS
15 positive regulation of glycogen biosynthetic process GO:0045725 9.61 INS GCK
16 endocrine pancreas development GO:0031018 9.61 PDX1 NEUROD1 HNF1A
17 positive regulation of cellular protein metabolic process GO:0032270 9.6 INS ADIPOQ
18 hepatocyte differentiation GO:0070365 9.58 HNF4A HNF1B
19 cellular response to leptin stimulus GO:0044320 9.58 LEP GCK
20 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.56 HNF1B HNF1A
21 insulin secretion GO:0030073 9.55 PDX1 NEUROD1 LEP HNF1B HNF1A
22 negative regulation of feeding behavior GO:2000252 9.54 RETN INS
23 negative regulation of gluconeogenesis GO:0045721 9.54 INS GCK ADIPOQ
24 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.52 PDX1 NEUROD1
25 detection of glucose GO:0051594 9.51 PDX1 GCK
26 regulation of pronephros size GO:0035565 9.49 HNF1B