Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MODY1
MCID: MTR018
MIFTS: 64

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

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

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

About this section

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

Name: Maturity-Onset Diabetes of the Young, Type 1 57 36 71
Maturity-Onset Diabetes of the Young Type 1 11 28 5 14
Mild Juvenile Diabetes Mellitus 57 11 73
Mody1 57 11 73
Diabetes Mellitus Type 2 11 75
Mody, Type I 57 12
Mody Type 1 11 73
Diabetes of the Young, Maturity-Onset, Type 1 38
Maturity-Onset Diabetes of the Young 1 73
Mody, Type 1 57
Mody-1 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Nephrological diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 11 DOID:0111099
OMIM® 57 125850
MeSH 43 D003924
MedGen 40 C1852093
SNOMED-CT via HPO 69 609561005
UMLS 71 C1852093
Sources

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

About this section

UniProtKB/Swiss-Prot: 73 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 maturity-onset diabetes of the young type 1, is related to hyperinsulinism due to hnf1a deficiency and monogenic diabetes. 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 Nervous system development and Glucose / Energy Metabolism. The drugs Simvastatin and Petrolatum have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and bone marrow, and related phenotypes are flushing and maturity-onset diabetes of the young

Disease Ontology: 11 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, formerly known as adult-onset diabetes, is a form of diabetes mellitus that is... more...

More information from OMIM: 125850
Sources

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

About this section

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 316)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinism due to hnf1a deficiency 32.1 HNF4A HNF1A
2 monogenic diabetes 30.5 KCNJ11 INS HNF1A GCK ABCC8
3 glucose intolerance 30.4 NEUROD1 KCNJ11 INS HNF1A GCK ABCC8
4 body mass index quantitative trait locus 11 30.2 SLC2A2 KCNJ11 INS HNF4A HNF1A GCK
5 gestational diabetes 30.1 PDX1 NEUROD1 KCNJ11 INS HNF4A HNF1A
6 type 1 diabetes mellitus 30.0 PDX1 PAX4 NEUROD1 INS HNF4A HNF1A
7 hyperinsulinism 29.8 KCNJ11 INS HNF4A HNF1A GCK ABCC8
8 hypoglycemia 29.8 SLC2A2 KCNJ11 INS HNF4A GCK ABCC8
9 hyperglycemia 29.6 SLC2A2 PDX1 PAX4 KCNJ11 INS HNF4A
10 prediabetes syndrome 29.5 SLC2A2 KCNJ11 INS HNF4A HNF1B HNF1A
11 type 2 diabetes mellitus 29.5 SLC2A2 PDX1 PAX4 ONECUT1 NEUROD1 KCNJ11
12 insulinoma 29.4 SLC2A2 PDX1 PAX4 NEUROD1 KCNJ11 INS
13 neonatal diabetes 29.1 SLC2A2 RFX6 PDX1 PAX4 NEUROD1 KLF11
14 renal cysts and diabetes syndrome 29.1 RFX6 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
15 permanent neonatal diabetes mellitus 28.8 SLC2A2 RFX6 PDX1 PAX4 NEUROD1 KLF11
16 maturity-onset diabetes of the young, type 2 28.8 SLC2A2 RFX6 PDX1 PAX4 NEUROD1 KLF11
17 maturity-onset diabetes of the young 28.8 SLC2A2 RFX6 PDX1 PAX4 ONECUT1 NEUROD1
18 diabetes mellitus 28.7 SLC2A2 RFX6 PDX1 PAX4 NEUROD1 KLF11
19 maturity-onset diabetes of the young, type 3 28.4 SLC2A2 RFX6 PDX1 PAX4 ONECUT1 NEUROD1
20 rare diabetes mellitus type 2 11.3
21 alstrom syndrome 11.2
22 oto-palatal-digital syndrome 11.0
23 abdominal obesity-metabolic syndrome 1 10.6
24 microvascular complications of diabetes 5 10.6
25 microvascular complications of diabetes 1 10.6
26 leptin deficiency or dysfunction 10.5
27 periodontitis 10.5
28 neuropathy 10.5
29 arteries, anomalies of 10.5
30 microvascular complications of diabetes 2 10.5
31 microvascular complications of diabetes 3 10.5
32 microvascular complications of diabetes 4 10.5
33 microvascular complications of diabetes 6 10.5
34 microvascular complications of diabetes 7 10.5
35 hyperlipoproteinemia, type iii 10.5
36 lipoprotein quantitative trait locus 10.5
37 lipid metabolism disorder 10.5
38 coronary heart disease 1 10.4
39 heart disease 10.4
40 periodontitis, chronic 10.4
41 non-alcoholic fatty liver disease 10.4
42 rickets 10.4
43 autonomic neuropathy 10.4
44 kidney disease 10.4
45 chronic kidney disease 10.4
46 atherosclerosis susceptibility 10.4
47 angina pectoris 10.4
48 vascular disease 10.4
49 fatty liver disease 10.4
50 diabetic neuropathy 10.4

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
Sources

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

About this section

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

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 flushing 30 HP:0031284
2 maturity-onset diabetes of the young 30 HP:0004904

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.87 ABCC8 APPL1 BLK CEL GCK GLIS3
2 no effect GR00402-S-2 9.87 ABCC8 APPL1 CEL GCK HNF1A HNF1B
3 shRNA abundance <= 50% GR00343-S 9.7 BLK CEL GCK HNF1A HNF4G KCNJ11

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.32 ABCC8 APPL1 CEL GCK GLIS3 HNF1A
2 growth/size/body region MP:0005378 10.25 ABCC8 APPL1 CEL GCK GLIS3 HNF1A
3 endocrine/exocrine gland MP:0005379 10.13 ABCC8 BLK GCK GLIS3 HNF1A HNF1B
4 renal/urinary system MP:0005367 10.09 GCK GLIS3 HNF1A HNF1B HNF4A HNF4G
5 liver/biliary system MP:0005370 10.06 CEL GCK HNF1A HNF1B HNF4A INS
6 no phenotypic analysis MP:0003012 10 ABCC8 APPL1 GLIS3 HNF1A INS KCNJ11
7 digestive/alimentary MP:0005381 9.76 CEL HNF1A HNF1B INS NEUROD1 ONECUT1
8 cellular MP:0005384 9.7 APPL1 GCK GLIS3 HNF1A HNF1B HNF4A
9 mortality/aging MP:0010768 9.47 APPL1 GCK GLIS3 HNF1A HNF1B HNF4A
Sources

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

About this section

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

(show top 50) (show all 843)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4 79902-63-9 54454
2
Petrolatum Approved, Investigational Phase 4 8009-03-8
3
Eprosartan Approved Phase 4 133040-01-4 5281037
4
Glycopyrronium Approved, Investigational, Vet_approved Phase 4 596-51-0, 740028-90-4 3494
5
Curcumin Approved, Investigational Phase 4 458-37-7, 84765-67-3 969516
6
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 637568
7
Adalimumab Approved, Experimental Phase 4 331731-18-1
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 12849515 92400
11
Cilazapril Approved Phase 4 88768-40-5, 92077-78-6 56330
12
Fosinopril Approved Phase 4 98048-97-6 55891 9601226
13
Thrombin Approved, Investigational Phase 4
14
Glyburide Approved Phase 4 10238-21-8 3488
15
Atorvastatin Approved Phase 4 134523-00-5 60823
16
Lactulose Approved Phase 4 4618-18-2 11333
17
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
18
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5282411
19
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
20
Ramipril Approved Phase 4 87333-19-5 5362129
21
Enalaprilat Approved Phase 4 76420-72-9 6917719 5462501
22
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5388962 5362032
23
Altretamine Approved Phase 4 645-05-6 2123
24
Iron Approved Phase 4 7439-89-6 29936
25
Heparin, bovine Approved, Investigational, Withdrawn Phase 4 9005-49-6 22833565 9812414 772
26
Esomeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6, 119141-88-7 9568614 4594
27
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
28
Trimetazidine Approved, Investigational Phase 4 5011-34-7 21109
29
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
30
Sildenafil Approved, Investigational Phase 4 139755-83-2, 171599-83-0 5212 135398744
31
Ginger Approved Phase 4
32
Losartan Approved Phase 4 114798-26-4 3961
33
Perindopril Approved Phase 4 82834-16-0, 107133-36-8 107807
34
Indapamide Approved Phase 4 26807-65-8 3702
35
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
36
Fenofibrate Approved Phase 4 49562-28-9 3339
37
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
38
Inositol Approved, Investigational, Withdrawn Phase 4 87-89-8
39
Lacidipine Approved, Investigational Phase 4 103890-78-4 68733 5311217
40
Pramlintide Approved, Investigational Phase 4 151126-32-8 139600705 70691388
41
Cholecystokinin Approved, Investigational Phase 4 9011-97-6 16129670
42
Gliquidone Approved, Investigational Phase 4 33342-05-1 91610
43
Tolbutamide Approved, Investigational Phase 4 64-77-7 5505
44
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
45
Azilsartan medoxomil Approved, Investigational Phase 4 863031-21-4 11238823
46
Acetaminophen Approved Phase 4 103-90-2 1983
47
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
48
Nitroprusside Approved, Investigational Phase 4 15078-28-1 11963622
49
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
50
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171

Interventional clinical trials:

(show top 50) (show all 7341)
# Name Status NCT ID Phase Drugs
1 Switching From Insulin to Sulfonylurea in Childhood and Adult Diabetes Due to Variants in the HNF1A, HNF4A, or HNF1B Genes Unknown status NCT04239586 Phase 4 Sulfonylurea
2 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
3 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
4 Comparison of Anti-inflammatory Status Linked to Atherosclerosis Formation/Progression Among Diabetes Mellitus Type 2 Patients Under Combined Pharmacological Therapy Unknown status NCT04392557 Phase 4 Metformin / alogliptin Oral Product;Metformin / Pioglitazone Pill;triple therapy
5 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
6 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
7 A Study on the Anti-proteinuric Effects of Pioglitazone in Patients With Type 2 Diabetes. Unknown status NCT00749047 Phase 4 Pioglitazone
8 Glucagon Like Peptides Receptors Expression in the Stomach of Diabetes Type 2 Unknown status NCT00473733 Phase 4
9 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
10 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
11 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
12 Pharmacodynamics Study to Investigate the Effect of Evogliptin on Bone Metabolism in Healthy Volunteers Unknown status NCT02587975 Phase 4 Evogliptin
13 Effects of Dapagliflozin on Hyperlipidemia, Glycemic Control and Insulin Resistance in Type 2 Diabetic Patients (DAPHNIS Study) Unknown status NCT02577159 Phase 4 Dapagliflozin
14 Search for Highly Specific Predictors of Response to Different Hypoglycemic Therapy for Cardiovascular Prognosis Unknown status NCT03804411 Phase 4 Automatic system guided treatment;Standard treatment
15 A Multi-center, Open-label, Single-arm, Phase IV Clinical Trial to Evaluate the Preference Regarding Convenience of Medication, Efficacy and Safety After Switching to SUGAMET®XR Tablet 5/1000mg in Patients With Type 2 Diabetes and Renal Diseases Unknown status NCT04653779 Phase 4 Evogliptin 5mg/Metformin 1000mg
16 DAPASALT: An Open Label, Phase IV, Mechanistic, Study to Evaluate the Natriuretic Effect of 2-Week Dapagliflozin Treatment in Type 2 Diabetes Mellitus Patients With Impaired Renal Function Unknown status NCT04620590 Phase 4 Dapagliflozin 10 MG [Farxiga]
17 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
18 PRotective Effect on the Coronary Microcirculation of Patients With DIabetes by Clopidogrel or Ticagrelor Unknown status NCT02698618 Phase 4 Randomization
19 A Randomized,Active-controlled,Open-label Clinical Trial to Evaluate the Effect of GLP-1 Receptor Agonist (Exenatide Injection) in Combination With Metformin Therapy Compared to Premixed Insulin (BIAsp30) in Combination With Metformin Therapy on Diabetes Remission in Subjects With Newly Diagnosed Type 2 Diabetes Who Are Overweight or Obese Unknown status NCT03018665 Phase 4 Exenatide;BIAsp30;Metformin
20 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
21 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
22 Effect of Allopurinol on Mono and Co-administration With Statins on Platelets Reactivity on Diabetic Patiets Treated With Aspirin and Insulin Unknown status NCT03195153 Phase 4 Atorvastatin 80mg;ALLOPURINOL 300 MG;Atorvastatin 80mg AND allopurinol 300 mg
23 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
24 Insulin Resistance and Mild Cognitive Impairment (MCI) in Older Chinese Adults With Pre-Diabetes and Diabetes: Cognitive Effects of Lifestyle Intervention and Metformin Treatment in a Randomized Controlled Trial Unknown status NCT02409238 Phase 4 Metformin
25 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
26 The Effect of the GLP-1 Receptor Agonists on Blood Levels of Lipoprotein (a) Unknown status NCT02501850 Phase 4 Liraglutide;metformin
27 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
28 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
29 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
30 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
31 Mechanistic Study of the Systolic Blood Pressure Lowering Effect of Dapagliflozin in Type 2 Diabetes Unknown status NCT02372955 Phase 4 dapagliflozin;glimpiride
32 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
33 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
34 Comparison of TIcagrelor and Clopidogrel in Patients With Coronary Artery diseaSe and Type 2 Diabetes Mellitus (TICS-DM): a Randomized Pharmacodynamic Study Unknown status NCT02457130 Phase 4 Ticagrelor;Clopidogrel
35 EXpanded Combination of Evolocumab Plus Empagliflozin on Diabetes: EXCEED-BHS3 Trial Unknown status NCT03932721 Phase 4 Evolocumab 140 MG/ML
36 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
37 Effects of Oral Hypoglycemic Agents Combined With Short-term CSII on Glycemic Control in Newly-diagnosed Type 2 Diabetic Patients Unknown status NCT01471808 Phase 4 CSII;CSII, Metformin, Pioglitazone;CSII, Sitagliptin
38 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
39 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
40 The Effectiveness of Flash Glucose Monitoring System on Glycemic Control in Patients With New-onset Type 2 Diabetes#A Randomized Controlled Trial Unknown status NCT04535830 Phase 4
41 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
42 Effect of the Weekly Administration of Exenatide LAR or Dulaglutide on the Variability of Blood Pressure and Heart Rate of 24 Hours in Patients With Type 2 Diabetes Mellitus Without Pharmacological Treatment. Unknown status NCT03444142 Phase 4 Exenatide LAR;Dulaglutide
43 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
44 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
45 Response of Gut Microbiota in Type 2 Diabetes to Hypoglycemic Agents Unknown status NCT04287387 Phase 4 Glucophage 500Mg Tablet;Acarbose Tablets;Sitagliptin tablet;Dapagliflozin Tablet;Pioglitazone Tablets;Glimepiride Tablets
46 Therapeutic Effect of Dapagliflozin Combined With CSII on Newly Diagnosed Type 2 Diabetes Mellitus With Continuous Glucose Monitoring System Unknown status NCT04120623 Phase 4 Dapagliflozin 10 MG;Insulin Aspart
47 Effects of Empagliflozin on Cardiac Structure, Function, and Circulating Biomarkers in Patients With Type 2 Diabetes Unknown status NCT02998970 Phase 4 Empagliflozin;Placebo
48 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
49 The Effect of Empagliflozin on NAFLD in Asian Patients With Type 2 Diabetes Unknown status NCT02964715 Phase 4 Empagliflozin
50 Comparative Effecacy of Metformin and Vildagliptin on Cardiometabolic Risk Factors, Metabolic Syndrome, and Diabetic Nephropathy Progression Unknown status NCT04485845 Phase 4 Vildagliptin;Captopril Tablets;MetFORMIN 500 Mg Oral Tablet

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

Sources

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

About this section

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 28 HNF4A
Sources

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

About this section

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

MalaCards : Heart, Kidney, Bone Marrow, Endothelial, Brain, Skeletal Muscle, Liver
Sources

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

About this section

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

(show top 50) (show all 2927)
# Title Authors PMID Year
1
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. 62 57 5
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. 62 57 5
9920109 1999
3
Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. 62 57 5
9294105 1997
4
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) 62 57 5
8945471 1996
5
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. 57 5
17407387 2007
6
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 57 5
11575290 2001
7
Characteristics of maturity onset diabetes of the young in a large diabetes center. 62 5
26059258 2016
8
[Monogenic form of diabetes mellitus due to HNF4α mutation (MODY-1) - the first case in Hungary]. 62 5
26971647 2016
9
Multidomain integration in the structure of the HNF-4α nuclear receptor complex. 62 5
23485969 2013
10
Control of ACAT2 liver expression by HNF4{alpha}: lesson from MODY1 patients. 62 5
19478207 2009
11
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. 62 57
11590126 2001
12
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. 62 5
11435618 2001
13
Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients. 62 5
10768098 2000
14
Molecular Genetics of Maturity-onset Diabetes of the Young. 62 57
10322408 1999
15
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. 62 5
9313765 1997
16
A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene. 62 57
8632993 1996
17
Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. 62 57
7789636 1995
18
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. 5
36257325 2022
19
Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population. 5
30977832 2019
20
Fainting Fanconi syndrome clarified by proxy: a case report. 5
28693455 2017
21
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. 5
28242437 2017
22
Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. 5
28458902 2017
23
Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. 5
27245055 2016
24
Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction. 5
25819479 2015
25
Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation. 5
24947580 2014
26
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 5
24285859 2014
27
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. 5
23348805 2013
28
Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications. 5
21683639 2011
29
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. 5
20164212 2010
30
Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. 5
18811724 2009
31
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. 5
18268044 2008
32
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. 5
16917892 2006
33
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. 5
15830177 2005
34
Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function. 5
12235114 2002
35
The Protein Data Bank. 5
10592235 2000
36
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
37
Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance. 57
1539597 1992
38
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
39
Scope and heterogeneous nature of MODY. 57
2404717 1990
40
Maturity-onset diabetes of the young (MODY). 57
2689121 1989
41
Possible localization of the gene(s) for juvenile diabetes mellitus (JDM) to the HLA region of chromosome 6. 57
752490 1978
42
Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage. 5
193395 1977
43
The association between ABO blood groups and gestational diabetes mellitus: a retrospective population-based cohort study. 62
34167428 2022
44
Ischemic stroke of unclear aetiology: a case-by-case analysis and call for a multi-professional predictive, preventive and personalised approach. 62
36415625 2022
45
Diabetes disturbs functional adaptation of the remote myocardium after ischemia/reperfusion. 62
36150524 2022
46
The Role of Statins in Diabetic Retinopathy. 62
36464210 2022
47
Effect of type 2 diabetes mellitus in adults undergoing fixed orthodontic treatment on proinflammatory chemokine profile and levels of advanced glycation in gingival crevicular fluid. 62
36459018 2022
48
A Study of the Metabolic Pathways Affected by Gestational Diabetes Mellitus: Comparison with Type 2 Diabetes. 62
36428943 2022
49
HOW did GLP-1RAs bring about a paradigm shift in the guidelines of managing T2DM: A path to gluco-cardio Centricity. 62
36435205 2022
50
Prevalence of Overweight and Associated Factors in a Male Prison Population in the Extreme South of Brazil: A Cross-Sectional Study. 62
36409532 2022
Sources

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

About this section

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

5 (show top 50) (show all 183)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNF4A NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter) SNV Pathogenic
 9210 rs137853334 GRCh37: 20:43048453-43048453
GRCh38: 20:44419813-44419813
2 HNF4A NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter) SNV Pathogenic
 9211 rs137853335 GRCh37: 20:43042435-43042435
GRCh38: 20:44413795-44413795
3 HNF4A NM_175914.5(HNF4A):c.583-2del DEL Pathogenic
 9215 rs1600731198 GRCh37: 20:43047063-43047063
GRCh38: 20:44418423-44418423
4 HNF4A NM_175914.5(HNF4A):c.1052T>G (p.Met351Arg) SNV Pathogenic
 9216 rs137853338 GRCh37: 20:43052883-43052883
GRCh38: 20:44424243-44424243
5 HNF4A NM_175914.5(HNF4A):c.427-1G>A SNV Pathogenic
 587398 rs1568731279 GRCh37: 20:43043146-43043146
GRCh38: 20:44414506-44414506
6 HNF4A NM_175914.5(HNF4A):c.265C>T (p.Gln89Ter) SNV Pathogenic
 617653 rs1568724014 GRCh37: 20:43036061-43036061
GRCh38: 20:44407421-44407421
7 HNF4A NM_175914.5(HNF4A):c.48C>A (p.Tyr16Ter) SNV Pathogenic
 1299753 GRCh37: 20:42984492-42984492
GRCh38: 20:44355852-44355852
8 HNF4A, R3HDML-AS1 NM_175914.5(HNF4A):c.-181G>C SNV Pathogenic
 1299755 GRCh37: 20:42984264-42984264
GRCh38: 20:44355624-44355624
9 HNF4A NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter) SNV Pathogenic
 1299754 GRCh37: 20:42984492-42984492
GRCh38: 20:44355852-44355852
10 HNF4A NM_175914.5(HNF4A):c.950T>G (p.Leu317Arg) SNV Pathogenic
 1685879 GRCh37: 20:43052781-43052781
GRCh38: 20:44424141-44424141
11 HNF4A, R3HDML-AS1 NM_175914.5(HNF4A):c.-181G>A SNV Pathogenic
 1299750 GRCh37: 20:42984264-42984264
GRCh38: 20:44355624-44355624
12 HNF4A HNF4A, 1-BP DEL, PHE75T DEL Pathogenic
 9214 GRCh37:
GRCh38:
13 HNF4A NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) SNV Pathogenic
Pathogenic
 9212 rs137853336 GRCh37: 20:43042354-43042354
GRCh38: 20:44413714-44413714
14 HNF4A NM_175914.5(HNF4A):c.582+1G>A SNV Pathogenic
 617652 rs1392795567 GRCh37: 20:43043303-43043303
GRCh38: 20:44414663-44414663
15 HNF4A NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic
Pathogenic
 156152 rs587777732 GRCh37: 20:43034835-43034835
GRCh38: 20:44406195-44406195
16 HNF4A NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) SNV Pathogenic
 427034 rs1085307913 GRCh37: 20:43042349-43042349
GRCh38: 20:44413709-44413709
17 HNF4A NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) SNV Pathogenic
 435436 rs1555813319 GRCh37: 20:43034848-43034848
GRCh38: 20:44406208-44406208
18 HNF4A NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) SNV Pathogenic
 994902 rs377476335 GRCh37: 20:43042336-43042336
GRCh38: 20:44413696-44413696
19 HNF4A NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) SNV Pathogenic
 1186689 GRCh37: 20:43048381-43048381
GRCh38: 20:44419741-44419741
20 HNF4A NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter) SNV Pathogenic
 1324537 GRCh37: 20:43057109-43057109
GRCh38: 20:44428469-44428469
21 HNF4A NM_175914.5(HNF4A):c.352C>T (p.Arg118Ter) SNV Pathogenic
 1457657 GRCh37: 20:43042366-43042366
GRCh38: 20:44413726-44413726
22 HNF4A NM_175914.5(HNF4A):c.1033G>T (p.Asp345Tyr) SNV Pathogenic
 1700658 GRCh37: 20:43052864-43052864
GRCh38: 20:44424224-44424224
23 HNF4A NM_175914.5(HNF4A):c.537G>A (p.Trp179Ter) SNV Pathogenic
 1700659 GRCh37: 20:43043257-43043257
GRCh38: 20:44414617-44414617
24 HNF4A NM_175914.5(HNF4A):c.1064-1G>T SNV Pathogenic
 1700662 GRCh37: 20:43056974-43056974
GRCh38: 20:44428334-44428334
25 HNF4A NM_175914.5(HNF4A):c.1086dup (p.Ala363fs) DUP Pathogenic
 1700669 GRCh37: 20:43056996-43056997
GRCh38: 20:44428356-44428357
26 HNF4A NM_175914.5(HNF4A):c.869G>A (p.Arg290His) SNV Pathogenic/Likely Pathogenic
 804918 rs1191912908 GRCh37: 20:43052700-43052700
GRCh38: 20:44424060-44424060
27 HNF4A NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) SNV Pathogenic/Likely Pathogenic
 36364 rs193922479 GRCh37: 20:43052756-43052756
GRCh38: 20:44424116-44424116
28 HNF4A NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg) SNV Likely Pathogenic
 36342 rs193922469 GRCh37: 20:43057008-43057008
GRCh38: 20:44428368-44428368
29 HNF4A NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) MICROSAT Likely Pathogenic
 435437 rs1280663753 GRCh37: 20:43043188-43043190
GRCh38: 20:44414548-44414550
30 HNF4A NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro) SNV Likely Pathogenic
 435438 rs1555816654 GRCh37: 20:43048430-43048430
GRCh38: 20:44419790-44419790
31 HNF4A NM_175914.5(HNF4A):c.3G>A (p.Met1Ile) SNV Likely Pathogenic
 1299751 GRCh37: 20:42984447-42984447
GRCh38: 20:44355807-44355807
32 HNF4A NM_175914.5(HNF4A):c.1del (p.Met1fs) DEL Likely Pathogenic
 1299752 GRCh37: 20:42984445-42984445
GRCh38: 20:44355805-44355805
33 HNF4A NM_175914.5(HNF4A):c.179G>T (p.Gly60Val) SNV Likely Pathogenic
 1333652 GRCh37: 20:43034827-43034827
GRCh38: 20:44406187-44406187
34 HNF4A NM_175914.5(HNF4A):c.201del (p.Lys68fs) DEL Likely Pathogenic
 617649 rs1385251852 GRCh37: 20:43034848-43034848
GRCh38: 20:44406208-44406208
35 HNF4A HNF4A deletion DEL Likely Pathogenic
 36366 GRCh37:
GRCh38:
36 HNF4A NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) SNV Likely Pathogenic
 397578 rs1060499693 GRCh37: 20:43047122-43047122
GRCh38: 20:44418482-44418482
37 HNF4A NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) SNV Likely Pathogenic
 36344 rs193922470 GRCh37: 20:43057098-43057098
GRCh38: 20:44428458-44428458
38 HNF4A NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) INDEL Likely Pathogenic
 36348 rs193922471 GRCh37: 20:43036077-43036078
GRCh38: 20:44407437-44407438
39 HNF4A NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro) SNV Likely Pathogenic
 36354 rs193922474 GRCh37: 20:43043273-43043273
GRCh38: 20:44414633-44414633
40 HNF4A NM_175914.5(HNF4A):c.575_582+10del DEL Likely Pathogenic
 36355 rs193922475 GRCh37: 20:43043292-43043309
GRCh38: 20:44414652-44414669
41 HNF4A NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs) INDEL Likely Pathogenic
 36356 rs193922476 GRCh37: 20:43047142-43047144
GRCh38: 20:44418502-44418504
42 HNF4A NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp) SNV Likely Pathogenic
 36360 rs193922477 GRCh37: 20:43048458-43048458
GRCh38: 20:44419818-44419818
43 HNF4A NM_175914.5(HNF4A):c.827-1G>A SNV Likely Pathogenic
 1698809 GRCh37: 20:43052657-43052657
GRCh38: 20:44424017-44424017
44 HNF4A NM_175914.5(HNF4A):c.625G>A (p.Gly209Arg) SNV Likely Pathogenic
 1313336 GRCh37: 20:43047107-43047107
GRCh38: 20:44418467-44418467
45 HNF4A NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln) SNV Likely Pathogenic
 1700660 GRCh37: 20:43048477-43048477
GRCh38: 20:44419837-44419837
46 HNF4A NM_175914.5(HNF4A):c.823C>T (p.Pro275Ser) SNV Likely Pathogenic
 1700661 GRCh37: 20:43048513-43048513
GRCh38: 20:44419873-44419873
47 HNF4A NM_175914.5(HNF4A):c.614A>C (p.His205Pro) SNV Likely Pathogenic
 1338628 GRCh37: 20:43047096-43047096
GRCh38: 20:44418456-44418456
48 HNF4A NM_175914.5(HNF4A):c.530T>C (p.Val177Ala) SNV Likely Pathogenic
 1399408 GRCh37: 20:43043250-43043250
GRCh38: 20:44414610-44414610
49 HNF4A NM_175914.5(HNF4A):c.926G>A (p.Arg309His) SNV Likely Pathogenic
 424599 rs369429452 GRCh37: 20:43052757-43052757
GRCh38: 20:44424117-44424117
50 HNF4A NM_175914.5(HNF4A):c.469A>C (p.Lys157Gln) SNV Likely Pathogenic
 1700682 GRCh37: 20:43043189-43043189
GRCh38: 20:44414549-44414549

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

Sources

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

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

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

About this section

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Nervous system development 66
Show member pathways
 13.47 SLC2A2 RFX6 PDX1 ONECUT1 NEUROD1 INS
2
Glucose / Energy Metabolism 3
12.32 PDX1 NEUROD1 INS HNF4A HNF1A
3
Integration of energy metabolism 66
Show member pathways
 12.26 SLC2A2 KCNJ11 INS ABCC8
4
Disorders of transmembrane transporters 66
Show member pathways
 12.22 SLC2A2 KCNJ11 GCK ABCC8
5
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 65
11.99 HNF1B INS NEUROD1 ONECUT1 PAX4 PDX1
6
Hepatic ABC Transporters 64
Show member pathways
 11.95 SLC2A2 PDX1 NEUROD1 INS HNF4A HNF1B
7
Regulation of beta-cell development 66
Show member pathways
 11.85 GCK HNF1A HNF1B HNF4A HNF4G INS
8
Transcriptional Regulatory Network in Embryonic Stem Cell 64
11.32 ONECUT1 NEUROD1 HNF4A
9
Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics 60
11.1 ABCC8 GCK HNF1A HNF1B HNF4A INS
10
Type II diabetes mellitus 74
10.92 SLC2A2 PDX1 KCNJ11
11
FOXA2 and FOXA3 transcription factor networks 61
Show member pathways
 10.86 ABCC8 GCK HNF1A HNF4A INS KCNJ11
12
Cori cycle 74
10.74 SLC2A2 INS
13
Dichloroethylene metabolism 22
10.36 HNF4A HNF1A
Sources

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

About this section

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 9.62 RFX6 PDX1 PAX4 ONECUT1 NEUROD1 KLF11
2 inward rectifying potassium channel GO:0008282 9.26 KCNJ11 ABCC8

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.58 RFX6 PDX1 PAX4 ONECUT1 NEUROD1 KLF11
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.51 GLIS3 HNF1A HNF1B HNF4A HNF4G NEUROD1
3 cell differentiation GO:0030154 10.35 RFX6 PDX1 PAX4 NEUROD1 HNF4G HNF4A
4 regulation of DNA-templated transcription GO:0006355 10.29 HNF1A HNF4A HNF4G INS NEUROD1 ONECUT1
5 response to xenobiotic stimulus GO:0009410 10.25 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
6 transcription by RNA polymerase II GO:0006366 10.24 PDX1 NEUROD1 HNF4A HNF1A GLIS3
7 liver development GO:0001889 10.11 PDX1 ONECUT1 HNF1B HNF1A
8 anatomical structure development GO:0048856 10.09 PAX4 HNF4G HNF4A
9 insulin secretion GO:0030073 10.08 HNF1A HNF1B NEUROD1 PDX1
10 glucose metabolic process GO:0006006 10.07 GCK INS KCNJ11 ONECUT1 PDX1
11 positive regulation of insulin secretion GO:0032024 10.04 PDX1 HNF1A GCK BLK
12 response to glucose GO:0009749 10.03 PDX1 NEUROD1 HNF4A HNF1B HNF1A
13 regulation of insulin secretion GO:0050796 10.02 RFX6 NEUROD1 KCNJ11 HNF4A GCK
14 pancreatic A cell differentiation GO:0003310 9.91 RFX6 ONECUT1
15 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.9 NEUROD1 PDX1
16 detection of glucose GO:0051594 9.88 PDX1 GCK
17 endocrine pancreas development GO:0031018 9.88 RFX6 PDX1 ONECUT1 NEUROD1
18 pancreatic D cell differentiation GO:0003311 9.86 RFX6 ONECUT1
19 type B pancreatic cell differentiation GO:0003309 9.8 RFX6 PDX1 PAX4 ONECUT1
20 enteroendocrine cell differentiation GO:0035883 9.76 PDX1 ONECUT1 NEUROD1
21 regulation of pronephros size GO:0035565 9.7 HNF1A HNF1B
22 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.7 ABCC8 KCNJ11 PDX1 RFX6 SLC2A2
23 pancreas development GO:0031016 9.56 PDX1 PAX4 ONECUT1 HNF1B HNF1A
24 glucose homeostasis GO:0042593 9.47 RFX6 PDX1 NEUROD1 INS HNF4A HNF1A

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 10.23 PDX1 PAX4 ONECUT1 NEUROD1 KLF11 HNF4A
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10.21 GLIS3 HNF1A HNF4A HNF4G NEUROD1 ONECUT1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.2 RFX6 PDX1 PAX4 ONECUT1 NEUROD1 KLF11
4 DNA binding GO:0003677 10.17 RFX6 PDX1 PAX4 ONECUT1 NEUROD1 KLF11
5 transcription cis-regulatory region binding GO:0000976 10.06 RFX6 KLF11 HNF4A HNF1B HNF1A
6 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10 GLIS3 HNF1A HNF1B HNF4A HNF4G KLF11
7 sequence-specific DNA binding GO:0043565 9.86 GLIS3 HNF1A HNF1B HNF4A HNF4G NEUROD1
8 ATP-activated inward rectifier potassium channel activity GO:0015272 9.73 KCNJ11 ABCC8
9 DNA-binding transcription factor activity GO:0003700 9.53 RFX6 PDX1 ONECUT1 NEUROD1 KLF11 HNF4G
Sources

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

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....