MODY1
MCID: MTR018
MIFTS: 60

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 56 52 29 6 37 71
Mody1 56 12 52 73
Mild Juvenile Diabetes Mellitus 56 12 73
Mody Type 1 12 52 73
Maturity-Onset Diabetes of the Young Type 1 12 15
Diabetes Mellitus Type 2 12 74
Mody, Type I 56 13
Diabetes of the Young, Maturity-Onset, Type 1 39
Type 1 Maturity-Onset Diabetes of the Young 52
Maturity-Onset Diabetes of the Young 1 73
Diabetes Mellitus Mody Type 1 52
Mody Hnf4a Related 52
Mody, Type 1 56
Mody-1 73

Characteristics:

OMIM:

56
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 56 125850
MeSH 43 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 rare diabetes mellitus type 2 and autonomic neuropathy. 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 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 : 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 318)
# Related Disease Score Top Affiliating Genes
1 rare diabetes mellitus type 2 32.9 SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
2 autonomic neuropathy 30.6 INS GCG ALB
3 coronary heart disease 1 30.5 INS CRP APOC3 ADIPOQ
4 hypoglycemia 30.5 SLC2A2 KCNJ11 INS GCK GCG ABCC8
5 non-alcoholic steatohepatitis 30.4 INS ADIPOQ
6 arteries, anomalies of 30.3 LEP INS CRP ALB ADIPOQ
7 intermediate coronary syndrome 30.3 INS CRP ALB
8 acanthosis nigricans 30.2 LEP INS ADIPOQ
9 lipid metabolism disorder 30.2 LEP INS HNF4A CRP APOC3 ADIPOQ
10 generalized atherosclerosis 30.1 INS CRP ALB
11 peripheral nervous system disease 30.1 INS GCG CRP CNBP ALB
12 chronic ulcer of skin 30.1 INS CRP ALB
13 epidural abscess 30.1 CRP ALB
14 cerebrovascular disease 30.0 LEP INS CRP ADIPOQ
15 fatty liver disease 30.0 LEP INS CRP ALB ADIPOQ
16 celiac disease 1 29.9 INS GCG CRP ALB
17 coronary stenosis 29.9 CRP ALB ADIPOQ
18 chronic kidney disease 29.9 LEP INS HNF1B CRP ALB ADIPOQ
19 end stage renal failure 29.9 LEP CRP ALB ADIPOQ
20 abdominal obesity-metabolic syndrome 1 29.8 LEP INS GCK GCG ADIPOQ
21 monogenic diabetes 29.8 PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
22 hyperuricemia 29.8 LEP INS CRP ALB
23 vascular disease 29.8 LEP INS CRP APOC3 ALB ADIPOQ
24 proteasome-associated autoinflammatory syndrome 1 29.8 INS CRP ALB ADIPOQ
25 eating disorder 29.8 LEP GCG ALB ADIPOQ
26 atherosclerosis susceptibility 29.7 LEP INS CRP APOC3 ALB ADIPOQ
27 hyperinsulinism 29.6 LEP KCNJ11 INS HNF4A GCK GCG
28 leptin deficiency or dysfunction 29.6 LEP INS GCG CRP ALB ADIPOQ
29 familial hyperlipidemia 29.6 LEP INS CRP APOC3 ADIPOQ
30 sleep apnea 29.5 LEP INS CRP ALB ADIPOQ
31 insulinoma 29.4 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1A
32 myocardial infarction 29.4 LEP INS CRP APOC3 ALB ADIPOQ
33 non-alcoholic fatty liver disease 29.2 LEP INS GCG CRP APOC3 ALB
34 kidney disease 29.1 LEP INS HNF1B GCG CRP APOC3
35 cardiovascular system disease 29.1 LEP INS CRP APOC3 ALB ADIPOQ
36 gestational diabetes 29.1 LEP KCNJ11 INS HNF4A HNF1A GCK
37 heart disease 29.0 LEP INS GCG CRP APOC3 ALB
38 glucose intolerance 28.8 LEP KCNJ11 INS HNF1A GCK GCG
39 hypertension, essential 28.8 LEP KCNJ11 INS GCG CRP CNBP
40 maturity-onset diabetes of the young, type 2 28.6 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
41 diabetes mellitus, permanent neonatal 28.6 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
42 maturity-onset diabetes of the young, type 3 28.5 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
43 neonatal diabetes mellitus 28.3 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
44 hyperglycemia 28.2 SLC2A2 PDX1 PAX4 LEP KCNJ11 INS
45 maturity-onset diabetes of the young 28.0 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
46 body mass index quantitative trait locus 11 27.8 SLC2A2 LEP KCNJ11 INS HNF4A HNF1A
47 diabetes mellitus, noninsulin-dependent 26.8 SLC2A2 PDX1 PAX4 NEUROD1 LEP KCNJ11
48 diabetes mellitus 26.2 SLC2A2 PDX1 PAX4 NEUROD1 LEP KLF11
49 alstrom syndrome 11.3
50 laron syndrome 11.3

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 flushing 31 HP:0031284
2 maturity-onset diabetes of the young 31 HP:0004904

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.25 ABCC8 ADIPOQ ALB BLK GCK HNF1A
2 homeostasis/metabolism MP:0005376 10.22 ABCC8 ADIPOQ ALB CRP GCK HNF1A
3 growth/size/body region MP:0005378 10.18 ADIPOQ CNBP GCK HNF1A HNF1B HNF4A
4 cellular MP:0005384 10.17 ADIPOQ ALB CNBP GCK HNF1A HNF4A
5 mortality/aging MP:0010768 10 ADIPOQ ALB CNBP GCK HNF1A HNF1B
6 liver/biliary system MP:0005370 9.96 ADIPOQ ALB GCK HNF1A HNF1B HNF4A
7 muscle MP:0005369 9.61 ADIPOQ ALB HNF1A HNF1B INS KCNJ11
8 renal/urinary system MP:0005367 9.28 ADIPOQ ALB GCK HNF1A HNF1B INS

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 830)
# 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
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
7
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 637568 5271565
8
Adalimumab Approved Phase 4 331731-18-1 16219006
9
Doxazosin Approved Phase 4 74191-85-8 3157
10
Mineral oil Approved, Vet_approved Phase 4 8042-47-5
11
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
12
Atorvastatin Approved Phase 4 134523-00-5 60823
13
Simvastatin Approved Phase 4 79902-63-9 54454
14
Pramlintide Approved, Investigational Phase 4 151126-32-8
15
Glyburide Approved Phase 4 10238-21-8 3488
16
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
17
Lactulose Approved Phase 4 4618-18-2 11333
18
Fenofibrate Approved Phase 4 49562-28-9 3339
19
Lacidipine Approved, Investigational Phase 4 103890-78-4
20
Caffeine Approved Phase 4 58-08-2 2519
21
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
22
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
23
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
24
Gliquidone Approved, Investigational Phase 4 33342-05-1 91610
25
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
26
Indapamide Approved Phase 4 26807-65-8 3702
27
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
28
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
29
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
30
Tolbutamide Approved, Investigational Phase 4 64-77-7 5505
31
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
32
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
33
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
34
Cholecystokinin Approved, Investigational Phase 4 9011-97-6
35
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
36
Acetaminophen Approved Phase 4 103-90-2 1983
37
Trimetazidine Approved, Investigational Phase 4 5011-34-7
38
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
39
Eplerenone Approved Phase 4 107724-20-9 150310 443872
40
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
41
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
42
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
43
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
44
Promethazine Approved, Investigational Phase 4 60-87-7 4927
45
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
46
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
47
Ribavirin Approved Phase 4 36791-04-5 37542
48
Nitazoxanide Approved, Investigational, Vet_approved Phase 4 55981-09-4 41684
49 Strawberry Approved Phase 4
50
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719

Interventional clinical trials:

(show top 50) (show all 5888)
# 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 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
3 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
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 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
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 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 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
9 Beijing Chao-yang Hospital, Capital Medical University Unknown status NCT02583438 Phase 4 Saxagliptin (Bristol-Myers Squibb Company)
10 Metabolomic Variations in the Saxagliptin-Treated Type 2 Diabetes Mellitus Patients Unknown status NCT01768208 Phase 4 Saxagliptin
11 Glucagon Like Peptides Receptors Expression in the Stomach of Diabetes Type 2 Unknown status NCT00473733 Phase 4
12 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
13 ACE/ACE2 Ratio in Diabetic Patients Treated With Antihypertensive Drugs Unknown status NCT00192803 Phase 4 candesartan
14 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
15 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
16 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
17 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
18 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
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 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
21 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
22 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
23 Safety of Add on Aliskiren to ACEI and ARB Treatment in Type 2 Diabetes With Nephropathy Unknown status NCT00949351 Phase 4 Aliskiren 300mg/d
24 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
25 Vascular Benefits of Adding CarvedilolCR to Type2 Diabetic Patients on ACEI:Effects on Oxidative Stress and Inflammation. Unknown status NCT00430040 Phase 4 carvedilol;lisinopril
26 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
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 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
29 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
30 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
31 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
32 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
33 Effect of aSpirin Versus CilOstazol for Inhibition of Antiplatelet aggRegaTion in Type 2 DM Patients Unknown status NCT02933788 Phase 4 Cilostazol;Acetylsalicylic acid
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 Prospective Influence of Bedtime Insulin Glargine on Mobilization and Function of Endothelial Progenitor Cells in Patients With Type 2 Diabetes: a Partially Double-Blind, Randomized, Three-Arm Unicenter Study Unknown status NCT00523393 Phase 4 Insulin Glargin;Human Insulin
36 Aspirin and the Antiproteinuric Effect of Enalapril in Microalbuminuric Type 2 Diabetes Mellitus Patients: a Randomized, Double-Blind, Placebo-Controlled Study Unknown status NCT00427271 Phase 4 aspirin
37 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
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 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
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 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
43 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
44 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
45 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
46 Aliskiren Versus Ramipril on Antiproteinuric Effect in Hypertensive, Type 2 Diabetic Patients With Microalbuminuria Unknown status NCT01038895 Phase 4 Ramipril;Experimental
47 To Compare the Efficacy and Safety Between Pioglitazone Added to Combination Therapy of Sulfonylurea Plus Metformin and Placebo Control Group in Patients With Type 2 Diabetes Unknown status NCT00991055 Phase 4 Pioglitazone
48 Short Term Diet Intervention in Newly Diagnosed Type 2 Diabetes. a Randomised, Multicentric, Controlled, Clinical Trial Unknown status NCT01409330 Phase 4
49 Antiatherogenic and Antimetabolic Effect of Curcumin in Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4 curcumin
50 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

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, Heart, Kidney, Liver, Testes, 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 162)
# Title Authors PMID Year
1
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. 61 56 6
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 56 6
9920109 1999
3
Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. 61 56 6
9294105 1997
4
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) 61 56 6
8945471 1996
5
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 56 6
17407387 2007
6
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 56 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. 61 56
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. 61 56
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 56
8632993 1996
12
Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. 61 56
7789636 1995
13
Maturity-Onset Diabetes of the Young Overview 6
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. 6
16917892 2006
15
[Scanning the HNF4A gene mutation from Chinese pedigrees with early- and/or multiple-onset diabetes]. 6
16883527 2006
16
Identification of new mutations in the hepatocyte nuclear factor 4alpha gene among families with early onset Type 2 diabetes mellitus. 6
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. 56
8094595 1993
18
Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance. 56
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. 56
1899928 1991
20
Scope and heterogeneous nature of MODY. 56
2404717 1990
21
Maturity-onset diabetes of the young (MODY). 56
2689121 1989
22
Possible localization of the gene(s) for juvenile diabetes mellitus (JDM) to the HLA region of chromosome 6. 56
752490 1978
23
A juvenile case with the coexistence of MODY1 and later-onset latent autoimmune diabetes in youth (LADY). 61
31960584 2020
24
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. 61
31875549 2019
25
HNF4A Haploinsufficiency in MODY1 Abrogates Liver and Pancreas Differentiation from Patient-Derived Induced Pluripotent Stem Cells. 61
31195238 2019
26
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
27
Dimerization defective MODY mutations of hepatocyte nuclear factor 4α. 61
30648609 2019
28
HNF4α is a novel regulator of intestinal glucose-dependent insulinotropic polypeptide. 61
30862908 2019
29
Novel mechanisms of regulation of the expression and transcriptional activity of hepatocyte nuclear factor 4α. 61
30191603 2019
30
Derivation and molecular characterization of pancreatic differentiated MODY1-iPSCs. 61
29990710 2018
31
NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features. 61
28664602 2018
32
Probing the missing mature β-cell proteomic landscape in differentiating patient iPSC-derived cells. 61
28684784 2017
33
Hypoxia reduces HNF4α/MODY1 protein expression in pancreatic β-cells by activating AMP-activated protein kinase. 61
28364040 2017
34
Efficacy and safety of alogliptin in a pediatric patient with maturity-onset diabetes of the young type 1. 61
28804210 2017
35
The Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice. 61
27571483 2016
36
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
37
The Drosophila HNF4 nuclear receptor promotes glucose-stimulated insulin secretion and mitochondrial function in adults. 61
27185732 2016
38
Functional characteristics of reversibly immortalized hepatic progenitor cells derived from mouse embryonic liver. 61
25301359 2014
39
Multidomain integration in the structure of the HNF-4α nuclear receptor complex. 61
23485969 2013
40
Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young. 61
23306198 2013
41
Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2). 61
23139355 2013
42
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
43
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 61
22802087 2012
44
Localization of hepatocyte nuclear factor-4α in the nucleolus and nucleus is regulated by its C-terminus. 61
24843605 2012
45
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
46
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
47
MED25 is a mediator component of HNF4α-driven transcription leading to insulin secretion in pancreatic beta-cells. 61
22952853 2012
48
Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. 61
21214702 2011
49
A systematic analysis of the 3'UTR of HNF4A mRNA reveals an interplay of regulatory elements including miRNA target sites. 61
22140441 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 all 43) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF4A NM_000457.4(HNF4A):c.253C>T (p.Arg85Trp)SNV Pathogenic 156152 rs587777732 20:43034835-43034835 20:44406195-44406195
2 HNF4A NM_000457.4(HNF4A):c.829C>T (p.Gln277Ter)SNV Pathogenic 9210 rs137853334 20:43048453-43048453 20:44419813-44419813
3 HNF4A NM_000457.4(HNF4A):c.487C>T (p.Arg163Ter)SNV Pathogenic 9211 rs137853335 20:43042435-43042435 20:44413795-44413795
4 HNF4A HNF4A, 1-BP DEL, PHE75Tdeletion Pathogenic 9214
5 HNF4A NM_000457.4(HNF4A):c.649-2deldeletion Pathogenic 9215 20:43047063-43047063 20:44418423-44418423
6 HNF4A NM_000457.4(HNF4A):c.1118T>G (p.Met373Arg)SNV Pathogenic 9216 rs137853338 20:43052883-43052883 20:44424243-44424243
7 HNF4A NM_000457.4(HNF4A):c.493-1G>ASNV Pathogenic 587398 rs1568731279 20:43043146-43043146 20:44414506-44414506
8 HNF4A NM_000457.4(HNF4A):c.331C>T (p.Gln111Ter)SNV Pathogenic 617653 rs1568724014 20:43036061-43036061 20:44407421-44407421
9 HNF4A NM_000457.4(HNF4A):c.648+1G>ASNV Pathogenic 617652 rs1392795567 20:43043303-43043303 20:44414663-44414663
10 HNF4A NM_000457.4(HNF4A):c.347_348delinsC (p.Arg116fs)indel Pathogenic/Likely pathogenic 36348 rs193922471 20:43036077-43036078 20:44407437-44407438
11 HNF4A NM_000457.4(HNF4A):c.1253G>C (p.Cys418Ser)SNV Likely pathogenic 36344 rs193922470 20:43057098-43057098 20:44428458-44428458
12 HNF4A NM_000457.4(HNF4A):c.619G>C (p.Ala207Pro)SNV Likely pathogenic 36354 rs193922474 20:43043273-43043273 20:44414633-44414633
13 HNF4A NM_000457.4(HNF4A):c.641_648+10deldeletion Likely pathogenic 36355 rs193922475 20:43043292-43043309 20:44414652-44414669
14 HNF4A NM_000457.4(HNF4A):c.726_728delinsTCAA (p.Leu243fs)indel Likely pathogenic 36356 rs193922476 20:43047142-43047144 20:44418502-44418504
15 HNF4A NM_000457.4(HNF4A):c.1163C>G (p.Pro388Arg)SNV Likely pathogenic 36342 rs193922469 20:43057008-43057008 20:44428368-44428368
16 HNF4A NM_000457.4(HNF4A):c.267del (p.Lys90fs)deletion Likely pathogenic 617649 rs1385251852 20:43034848-43034848 20:44406208-44406208
17 HNF4A HNF4A deletiondeletion Likely pathogenic 36366
18 HNF4A NM_000457.4(HNF4A):c.706T>A (p.Ser236Thr)SNV Likely pathogenic 397578 rs1060499693 20:43047122-43047122 20:44418482-44418482
19 HNF4A NM_000457.4(HNF4A):c.536_538AGA[1] (p.Lys180del)short repeat Likely pathogenic 435437 rs1280663753 20:43043188-43043190 20:44414548-44414550
20 HNF4A NM_000457.4(HNF4A):c.806T>C (p.Leu269Pro)SNV Likely pathogenic 435438 rs1555816654 20:43048430-43048430 20:44419790-44419790
21 HNF4A NM_000457.4(HNF4A):c.834G>C (p.Glu278Asp)SNV Likely pathogenic 36360 rs193922477 20:43048458-43048458 20:44419818-44419818
22 HNF4A NM_000457.4(HNF4A):c.492+6G>ASNV Conflicting interpretations of pathogenicity 36352 rs182980547 20:43042446-43042446 20:44413806-44413806
23 HNF4A NM_000457.4(HNF4A):c.505G>A (p.Val169Ile)SNV Conflicting interpretations of pathogenicity 36353 rs142204928 20:43043159-43043159 20:44414519-44414519
24 HNF4A NM_000457.4(HNF4A):c.150G>A (p.Ala50=)SNV Conflicting interpretations of pathogenicity 36347 rs41282026 20:43034732-43034732 20:44406092-44406092
25 HNF4A NM_000457.4(HNF4A):c.991C>T (p.Arg331Cys)SNV Conflicting interpretations of pathogenicity 36364 rs193922479 20:43052756-43052756 20:44424116-44424116
26 HNF4A NM_000457.4(HNF4A):c.406C>T (p.Arg136Trp)SNV Conflicting interpretations of pathogenicity 9212 rs137853336 20:43042354-43042354 20:44413714-44413714
27 HNF4A NM_000457.4(HNF4A):c.998G>A (p.Arg333His)SNV Conflicting interpretations of pathogenicity 586023 rs1375557127 20:43052763-43052763 20:44424123-44424123
28 HNF4A NM_000457.4(HNF4A):c.929G>A (p.Arg310Gln)SNV Uncertain significance 632373 rs371124358 20:43052694-43052694 20:44424054-44424054
29 HNF4A NM_175914.4(HNF4A):c.2T>C (p.Met1Thr)SNV Uncertain significance 689636 20:42984446-42984446 20:44355806-44355806
30 HNF4A NM_000457.4(HNF4A):c.1387A>G (p.Ile463Val)SNV Uncertain significance 36345 rs147638455 20:43058267-43058267 20:44429627-44429627
31 HNF4A NM_000457.4(HNF4A):c.*4G>ASNV Uncertain significance 36346 rs193922468 20:43058309-43058309 20:44429669-44429669
32 HNF4A NM_000457.4(HNF4A):c.892+30dupduplication Uncertain significance 36361 rs193922478 20:43048545-43048546 20:44419905-44419906
33 HNF4A NM_000457.4(HNF4A):c.829C>G (p.Gln277Glu)SNV Uncertain significance 437910 rs137853334 20:43048453-43048453 20:44419813-44419813
34 HNF4A NM_000457.4(HNF4A):c.119C>T (p.Thr40Met)SNV Uncertain significance 586012 rs199796094 20:43034701-43034701 20:44406061-44406061
35 HNF4A NM_000457.4(HNF4A):c.290G>A (p.Arg97Lys)SNV Uncertain significance 430844 rs1131692187 20:43034872-43034872 20:44406232-44406232
36 HNF4A NM_000457.4(HNF4A):c.906G>A (p.Leu302=)SNV Likely benign 36362 rs181559088 20:43052671-43052671 20:44424031-44424031
37 HNF4A NM_000457.4(HNF4A):c.990G>T (p.Ser330=)SNV Likely benign 36363 rs140146223 20:43052755-43052755 20:44424115-44424115
38 HNF4A NM_000457.4(HNF4A):c.447G>A (p.Leu149=)SNV Likely benign 36350 rs193922473 20:43042395-43042395 20:44413755-44413755
39 HNF4A NM_000457.4(HNF4A):c.459T>C (p.Asn153=)SNV Benign/Likely benign 36351 rs113308087 20:43042407-43042407 20:44413767-44413767
40 HNF4A NM_000457.4(HNF4A):c.735A>G (p.Leu245=)SNV Benign/Likely benign 36357 rs139591750 20:43047151-43047151 20:44418511-44418511
41 HNF4A NM_000457.4(HNF4A):c.762C>T (p.His254=)SNV Benign/Likely benign 36358 rs150078978 20:43048386-43048386 20:44419746-44419746
42 HNF4A NM_000457.4(HNF4A):c.810C>T (p.Asp270=)SNV Benign/Likely benign 36359 rs6031592 20:43048434-43048434 20:44419794-44419794
43 HNF4A NM_000457.4(HNF4A):c.1203C>T (p.Asn401=)SNV Benign/Likely benign 36343 rs61737145 20:43057048-43057048 20:44428408-44428408

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 SLC2A2 PDX1 PAX4 NEUROD1 LEP INS
2
Show member pathways
12.8 SLC2A2 PDX1 KCNJ11 INS GCK GCG
3 12.4 PDX1 NEUROD1 INS HNF4A HNF1A GCG
4
Show member pathways
12.32 SLC2A2 LEP INS GCK
5
Show member pathways
12.3 SLC2A2 KCNJ11 INS GCG ADIPOQ ABCC8
6
Show member pathways
12.27 LEP INS HNF4A ADIPOQ
8 11.99 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1B
9
Show member pathways
11.95 SLC2A2 PDX1 NEUROD1 INS HNF4A HNF1B
10 11.9 LEP INS HNF1A ADIPOQ
11
Show member pathways
11.81 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF4A
12 11.51 LEP HNF4A GCK
13 11.4 LEP KCNJ11 ABCC8
14 11.37 LEP INS BLK
15
Show member pathways
11.35 SLC2A2 PDX1 NEUROD1 KCNJ11 INS HNF4A
16 11.25 SLC2A2 PDX1 KCNJ11 INS HNF4A HNF1A
17 10.44 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 nuclear chromatin GO:0000790 9.17 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
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 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.08 PDX1 PAX4 KLF11 HNF4A HNF1B HNF1A
2 negative regulation of apoptotic process GO:0043066 10.03 PAX4 LEP HNF1B GCG ALB
3 positive regulation of transcription, DNA-templated GO:0045893 10 PDX1 NEUROD1 HNF4A HNF1B HNF1A CNBP
4 response to drug