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MODY1
MCID: MTR018
MIFTS: 66

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

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 1

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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 73
Diabetes Mellitus Type 2 12 76 29 6
Mody1 57 12 53 75
Mild Juvenile Diabetes Mellitus 57 12 75
Mody Type 1 12 53 75
Maturity-Onset Diabetes of the Young Type 1 12 15
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 75
Diabetes Mellitus Mody Type 1 53
Mody Hnf4a Related 53
Mody, Type 1 57
Mody-1 75

Characteristics:

OMIM:

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


HPO:

32
maturity-onset diabetes of the young, type 1:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM 57 125850
Disease Ontology 12 DOID:0111099
MedGen 42 C1852093
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 609561005
UMLS 73 C1852093
Sources

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

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UniProtKB/Swiss-Prot : 75 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 diabetes mellitus type 2, is related to diabetes mellitus, noninsulin-dependent and diabetes mellitus. 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 Gliclazide and Hormones, Hormone Substitutes, and Hormone Antagonists 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 : 76 Diabetes mellitus type�2 (also known as type 2 diabetes) is a long-term metabolic disorder that is... more...

Description from OMIM: 125850
Sources

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

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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 88)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, noninsulin-dependent 33.3 WFS1 SLC30A8 SLC2A2 RETN PDX1 PAX4
2 diabetes mellitus 31.9 WFS1 SLC30A8 SLC2A2 RETN PDX1 PAX4
3 maturity-onset diabetes of the young 31.0 SLC2A2 PDX1 PAX4 NEUROD1 KCNJ11 IRS1
4 maturity-onset diabetes of the young, type 3 30.5 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
5 renal cysts and diabetes syndrome 30.5 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
6 hypoglycemia 30.5 KCNJ11 INSR GCK AKT2 ABCC8
7 hyperglycemia 30.4 SLC2A2 PDX1 KCNJ11 IRS1 INSR HNF1A
8 gestational diabetes 30.2 RETN KCNJ11 IRS1 INSR HNF4A GCK
9 alstrom syndrome 11.2
10 laron syndrome 11.2
11 maturity-onset diabetes of the young, type 4 10.3 PDX1 HNF4A HNF1B HNF1A GCK
12 maturity-onset diabetes of the young, type 2 10.3 PDX1 HNF4A HNF1B HNF1A GCK
13 maturity-onset diabetes of the young, type 13 10.3 PAX4 NEUROD1 KCNJ11 HNF4A HNF1A GCK
14 hyperinsulinemic hypoglycemia 10.3 KCNJ11 INSR HNF4A GCK ABCC8
15 maturity-onset diabetes of the young, type 6 10.3 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
16 maturity-onset diabetes of the young, type 7 10.3 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
17 munchausen by proxy 10.3 KCNJ11 GCK ABCC8
18 neonatal diabetes mellitus 10.3 SLC2A2 PDX1 NEUROD1 KCNJ11 HNF1B GCK
19 endocrine pancreas disease 10.3 KCNJ11 IRS1 GCK ABCC8
20 monogenic diabetes 10.3 PDX1 PAX4 KCNJ11 HNF4A HNF1A GCK
21 hyperinsulinism 10.3 KCNJ11 INSR HNF4A GCK ABCC8
22 acquired metabolic disease 10.3 SLC2A2 RETN KCNJ11 IRS1 GCK ABCC8
23 insulinoma 10.3 WFS1 SLC2A2 PDX1 GCK ABCC8
24 glucose metabolism disease 10.3 SLC30A8 SLC2A2 RETN KCNJ11 IRS1 GCK
25 pancreatic agenesis 10.3 PDX1 KCNJ11 GCK ABCC8
26 maturity-onset diabetes of the young, type 14 10.3 HNF1A GCK ABCC8
27 diabetes mellitus, permanent neonatal 10.3 PDX1 KCNJ11 GCK ABCC8
28 diabetes mellitus, insulin-dependent 10.3 WFS1 PDX1 PAX4 NEUROD1 HNF1A GCK
29 glucose intolerance 10.3 RETN IRS1 INSR GCK
30 pancreatic cystadenoma 10.3 SLC30A8 SLC2A2 PDX1
31 arteries, anomalies of 10.3
32 insulin-like growth factor i 10.2 IRS1 INSR AKT2
33 body mass index quantitative trait locus 11 10.2 SLC2A2 RETN IRS1 INSR GCK ENPP1
34 cardiomyopathy, dilated, 1o 10.2 KCNJ11 ABCC8
35 coronary artery anomaly 10.2
36 heart disease 10.2
37 periodontitis 10.2
38 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.2 KCNJ11 ABCC8
39 colorectal cancer 10.1
40 myocardial infarction 10.1
41 microvascular complications of diabetes 5 10.1
42 coronary heart disease 1 10.1
43 microvascular complications of diabetes 3 10.1
44 microvascular complications of diabetes 4 10.1
45 microvascular complications of diabetes 6 10.1
46 microvascular complications of diabetes 7 10.1
47 ischemia 10.1
48 kidney disease 10.1
49 neuropathy 10.1
50 leukemia 10.0

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

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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

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

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.5 GPD2 SLC2A2
2 Decreased viability GR00173-A 10.5 MAPK8IP1
3 Decreased viability GR00221-A-1 10.5 AKT2 GCK INSR IRS1
4 Decreased viability GR00221-A-2 10.5 GCK INSR IRS1
5 Decreased viability GR00221-A-3 10.5 AKT2 GCK INSR
6 Decreased viability GR00221-A-4 10.5 AKT2 GCK INSR MAPK8IP1
7 Decreased viability GR00231-A 10.5 GCK
8 Decreased viability GR00301-A 10.5 AKT2 MAPK8IP1
9 Decreased viability GR00342-S-2 10.5 IRS1
10 Decreased viability GR00342-S-3 10.5 AKT2 IRS1 MAPK8IP1
11 Decreased viability GR00402-S-2 10.5 ABCC8 AKT2 ENPP1 GCGR GCK GPD2
12 no effect GR00402-S-1 9.96 ABCC8 AKT2 ENPP1 GCGR GCK GPD2
13 shRNA abundance <= 50% GR00343-S 9.36 ENPP1 GCGR GCK GPD2 HNF1A HNF4A

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.33 ABCC8 AKT2 GCGR GCK GPD2 HNF1A
2 growth/size/body region MP:0005378 10.32 AKT2 ENPP1 GCGR GCK GPD2 HNF1A
3 homeostasis/metabolism MP:0005376 10.32 ABCC8 AKT2 ENPP1 GCGR GCK GPD2
4 cellular MP:0005384 10.17 AKT2 ENPP1 GCGR HNF1A HNF4A INSR
5 behavior/neurological MP:0005386 10.16 ENPP1 GCGR GPD2 HNF1A INSR KCNJ11
6 adipose tissue MP:0005375 10.13 AKT2 ENPP1 GCGR GPD2 HNF1A INSR
7 liver/biliary system MP:0005370 10.13 AKT2 ENPP1 GCGR GCK GPD2 HNF1A
8 mortality/aging MP:0010768 10.09 AKT2 ENPP1 GCGR GCK GPD2 HNF1A
9 muscle MP:0005369 9.61 AKT2 ENPP1 HNF1A HNF1B INSR IRS1
10 renal/urinary system MP:0005367 9.17 ENPP1 GCK HNF1A HNF1B INSR NEUROD1
Sources

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

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gliclazide Approved Not Applicable 21187-98-4 3475
2 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
3 Incretins Not Applicable
4 glucagon Not Applicable
5 Tin Fluorides Not Applicable
6 Hypoglycemic Agents Not Applicable
7 Glucagon-Like Peptide 1 Not Applicable
8 Hormone Antagonists Not Applicable
9 Gastrointestinal Agents Not Applicable
10 Hormones Not Applicable
11 Antibodies
12 Immunoglobulins
13 Insulin, Globin Zinc
14 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Glucagon in MODY (Maturity Onset Diabetes of the Young) Recruiting NCT03246828 Not Applicable
2 Predisposition Genes in Monogenic Diabetes (DIAMONO) Completed NCT02634229

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :
Sources

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

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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
2 Diabetes Mellitus Type 2 29 ABCC8 AKT2 ENPP1 GCGR GCK GPD2 HMGA1 HNF1A HNF1B HNF4A IGF2BP2 IRS1 IRS2 KCNJ11 LIPC MAPK8IP1 MTNR1B NEUROD1 PAX4 PDX1 PPARG PPP1R3A PTPN1 RETN SLC2A2 SLC30A8 TCF7L2 WFS1
Sources

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

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

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

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

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

(show top 50) (show all 243)
# Title Authors Year
1
Expression and influence of pentraxin-3, HbAlc and ApoA1/ApoB in serum of patients with acute myocardial infarction combined with diabetes mellitus type 2. ( 29731826 )
2018
2
Targeting α-(1,4)-glucosidase in Diabetes mellitus Type 2: The Role of New Synthetic Coumarins as Potent Inhibitors. ( 30499400 )
2018
3
Effect of diabetes mellitus type 2 on salivary glucose, immunoglobulin A, total protein, and amylase levels in adults: A systematic review and meta-analysis of case-control studies. ( 30505327 )
2018
4
Association between Haemoglobin A1c and Uric Acid Levels among Patients with Diabetes Mellitus Type 2 at a Primary Health Care Clinic in North Sumatera, Indonesia. ( 30337978 )
2018
5
Effect of Foot Reflexology on Capillary Blood Glucose, Tissue Temperature, and Plantar Pressure of Individuals With Diabetes Mellitus (Type 2): A Pilot Study. ( 30228809 )
2018
6
Evaluation of DEFB1 polymorphisms in individuals with chronic periodontitis and diabetes mellitus type 2 in a population of northeastern Brazil. ( 29846960 )
2018
7
Angiogenic and Restorative Abilities of Human Mesenchymal Stem Cells Were Reduced Following Treatment With Serum From Diabetes Mellitus Type 2 Patients. ( 28608561 )
2018
8
Association between quality of sleep and health-related quality of life in persons with diabetes mellitus type 2. ( 29266588 )
2018
9
Amaranthus caudatus Stimulates Insulin Secretion in Goto-Kakizaki Rats, a Model of Diabetes Mellitus Type 2. ( 29342984 )
2018
10
Detecting persons at risk for diabetes mellitus type 2 using FINDRISC: results from a community pharmacy-based study. ( 29408980 )
2018
11
Apoptosis in pancreatic β-cells is induced by arsenic and atorvastatin in Wistar rats with diabetes mellitus type 2. ( 29413104 )
2018
12
Diabetic retinopathy screening in incident diabetes mellitus type 2 in Germany between 2004 and 2013 - A prospective cohort study based on health claims data. ( 29621309 )
2018
13
Factors associated to the dependence of older adults with diabetes mellitus type 2. ( 29791640 )
2018
14
Optimization of Clinical Decision Support Tools for the Care of Older Adults With Diabetes Mellitus Type 2. ( 29877896 )
2018
15
Predictive risk model for the diagnosis of diabetes mellitus type 2 in a follow-up study 15 years on: PRODI2 Study. ( 29897477 )
2018
16
Differential proteome analysis of diabetes mellitus type 2 and its pathophysiological complications. ( 29907545 )
2018
17
Efficacy and safety of alogliptin in a pediatric patient with maturity-onset diabetes of the young type 1. ( 28804210 )
2017
18
Some thoughts about a patient with poorly controlled diabetes mellitus type 2 and takotsubo syndrome. ( 27743180 )
2017
19
Speech-Evoked Auditory Brainstem Response in Individuals with Diabetes Mellitus Type 2. ( 27879226 )
2017
20
Impact of sustained virological response to chronic hepatitic C antiviral therapy on new onset diabetes mellitus type 2 after controlling for metabolic syndrome. ( 28232517 )
2017
21
Serum chitotriosidase enzyme activity is closely related to HbA1c levels and the complications in patients with diabetes mellitus type 2. ( 28392356 )
2017
22
Effective Universal Coverage of Diabetes Mellitus Type 2 in Chile. ( 28403339 )
2017
23
The effect of flour from the rind of the yellow passion fruit on glycemic control of people with diabetes mellitus type 2: a randomized clinical trial. ( 28428951 )
2017
24
Leptin and NGF in saliva of patients with diabetes mellitus type 2: A pilot study. ( 28437012 )
2017
25
The roles of annexins in vascular endothelium dysfunction accompanying diabetes mellitus type 2. ( 28689378 )
2017
26
Metformin use associated with lower risk of cancer in patients with diabetes mellitus type 2. ( 28698536 )
2017
27
E-healthcare for Diabetes Mellitus Type 2 Patients - A Randomised Controlled Trial in Slovenia. ( 28713443 )
2017
28
Assessment of optic disc and ganglion cell layer in diabetes mellitus type 2. ( 28723781 )
2017
29
Inhibition of GDF8 (Myostatin) accelerates bone regeneration in diabetes mellitus type 2. ( 28852138 )
2017
30
Development and validation of an educational program to enhance sense of coherence in patients with diabetes mellitus type 2. ( 28878441 )
2017
31
Cost effectiveness of vildagliptin versus glimepiride as add-on treatment to metformin for the treatment of diabetes mellitus type 2 patients in Greece. ( 28904527 )
2017
32
A Reassessment of the Marrubium Vulgare L. Herb's Potential Role in Diabetes Mellitus Type 2: First Results Guide the Investigation toward New Horizons. ( 28930271 )
2017
33
Bone Mineral Density in Relation to Metabolic Syndrome Components in Postmenopausal Women With Diabetes Mellitus Type 2 ( 29120134 )
2017
34
Alterations in adult hippocampal neurogenesis, aberrant protein s-nitrosylation, and associated spatial memory loss in streptozotocin-induced diabetes mellitus type 2 mice. ( 29147492 )
2017
35
Diabetes Mellitus Type 2 and Yoga: Electro Photonic Imaging Perspective. ( 29422746 )
2017
36
Diabetes mellitus type 2 and subsite-specific colorectal cancer risk in men and women: results from the Netherlands Cohort Study on diet and cancer. ( 27097356 )
2016
37
Diabetes Mellitus Type 2 in Hospitalized COPD Patients: Impact on Quality of Life and Lung Function. ( 27383876 )
2016
38
Profiles and Factors Associated with Poor Glycemic Control Among Inpatients with Diabetes Mellitus Type 2 as a Primary Diagnosis in a Teaching Hospital. ( 27385874 )
2016
39
ASSESSMENT OF RISK FACTORS FOR DIABETES MELLITUS TYPE 2. ( 27482159 )
2016
40
Psychometric Performance of the Brazilian Version of the Diabetes Distress Scale in Patients With Diabetes Mellitus Type 2. ( 27535306 )
2016
41
The effect of metformin on TSH levels in euthyroid and hypothyroid newly diagnosed diabetes mellitus type 2 patients. ( 27546693 )
2016
42
Quality of care for patients with diabetes mellitus type 2 in 'model practices' in Slovenia - first results. ( 27703537 )
2016
43
Peculiarities of heart rate in the patients with unstable angina and non-ST elevation myocardial infarction and concomitant diabetes mellitus type 2. ( 27717937 )
2016
44
Auditory Temporal Resolution in Individuals with Diabetes Mellitus Type 2. ( 27746835 )
2016
45
Challenges in diabetes mellitus type 2 management in Nepal: a literature review. ( 27760677 )
2016
46
The prevalence of diabetes mellitus type 2 in people with alcohol use disorders: a systematic review and large scale meta-analysis. ( 27788459 )
2016
47
New endoscopic procedures for diabetes mellitus type 2 and obesity treatment. ( 27867859 )
2016
48
Laparoscopic sleeve gastrectomy for the treatment of diabetes mellitus type 2 patients-single center early experience. ( 27867860 )
2016
49
Phlorotannins: Towards New Pharmacological Interventions for Diabetes Mellitus Type 2. ( 28042834 )
2016
50
The Effect of Walnut Oil Consumption on Blood Sugar in Patients With Diabetes Mellitus Type 2. ( 28115966 )
2016
Sources

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

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

75
# 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

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

6 (show top 50) (show all 286)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKAL1 NM_017774.3(CDKAL1): c.371+11426A> C single nucleotide variant Uncertain significance rs10946398 GRCh37 Chromosome 6, 20661034: 20661034
2 CDKAL1 NM_017774.3(CDKAL1): c.371+11426A> C single nucleotide variant Uncertain significance rs10946398 GRCh38 Chromosome 6, 20660803: 20660803
3 CDKAL1 NM_017774.3(CDKAL1): c.371+30101A> G single nucleotide variant Uncertain significance rs7756992 GRCh37 Chromosome 6, 20679709: 20679709
4 CDKAL1 NM_017774.3(CDKAL1): c.371+30101A> G single nucleotide variant Uncertain significance rs7756992 GRCh38 Chromosome 6, 20679478: 20679478
5 IGF2BP2 NM_006548.5(IGF2BP2): c.239+29254C> A single nucleotide variant risk factor rs4402960 GRCh37 Chromosome 3, 185511687: 185511687
6 IGF2BP2 NM_006548.5(IGF2BP2): c.239+29254C> A single nucleotide variant risk factor rs4402960 GRCh38 Chromosome 3, 185793899: 185793899
7 RETN RETN, +62G-A single nucleotide variant risk factor
8 CAPN10 NM_023083.3(CAPN10): c.471-176G> A single nucleotide variant risk factor rs3792267 GRCh37 Chromosome 2, 241531174: 241531174
9 CAPN10 NM_023083.3(CAPN10): c.471-176G> A single nucleotide variant risk factor rs3792267 GRCh38 Chromosome 2, 240591757: 240591757
10 CAPN10 NM_023083.3(CAPN10): c.997+136_998-148dup duplication risk factor rs3842570 GRCh37 Chromosome 2, 241534262: 241534293
11 CAPN10 NM_023083.3(CAPN10): c.997+136_998-148dup duplication risk factor rs3842570 GRCh38 Chromosome 2, 240594845: 240594876
12 CAPN10 NC_000002.12: g.240603286C> T single nucleotide variant risk factor rs5030952 GRCh38 Chromosome 2, 240603286: 240603286
13 CAPN10 NM_023083.3(CAPN10): c.471-187T> C single nucleotide variant risk factor rs2975760 GRCh37 Chromosome 2, 241531163: 241531163
14 CAPN10 NM_023083.3(CAPN10): c.471-187T> C single nucleotide variant risk factor rs2975760 GRCh38 Chromosome 2, 240591746: 240591746
15 MAPK8IP1 NM_005456.3(MAPK8IP1): c.176G> A (p.Ser59Asn) single nucleotide variant Pathogenic rs119489103 GRCh37 Chromosome 11, 45919710: 45919710
16 MAPK8IP1 NM_005456.3(MAPK8IP1): c.176G> A (p.Ser59Asn) single nucleotide variant Pathogenic rs119489103 GRCh38 Chromosome 11, 45898159: 45898159
17 TCF7L2 NM_030756.4(TCF7L2): c.382-41435C> T single nucleotide variant drug response rs7903146 GRCh37 Chromosome 10, 114758349: 114758349
18 TCF7L2 NM_030756.4(TCF7L2): c.382-41435C> T single nucleotide variant drug response rs7903146 GRCh38 Chromosome 10, 112998590: 112998590
19 TCF7L2 NM_030756.4(TCF7L2): c.483+9017G> T single nucleotide variant risk factor rs12255372 GRCh37 Chromosome 10, 114808902: 114808902
20 TCF7L2 NM_030756.4(TCF7L2): c.483+9017G> T single nucleotide variant risk factor rs12255372 GRCh38 Chromosome 10, 113049143: 113049143
21 TCF7L2 NM_030756.4(TCF7L2): c.483+7162G> C single nucleotide variant risk factor rs11196205 GRCh37 Chromosome 10, 114807047: 114807047
22 TCF7L2 NM_030756.4(TCF7L2): c.483+7162G> C single nucleotide variant risk factor rs11196205 GRCh38 Chromosome 10, 113047288: 113047288
23 NEUROD1 NM_002500.4(NEUROD1): c.332G> T (p.Arg111Leu) single nucleotide variant Pathogenic rs104893649 GRCh37 Chromosome 2, 182543256: 182543256
24 NEUROD1 NM_002500.4(NEUROD1): c.332G> T (p.Arg111Leu) single nucleotide variant Pathogenic rs104893649 GRCh38 Chromosome 2, 181678529: 181678529
25 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
26 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh38 Chromosome 11, 17388025: 17388025
27 PDX1 NM_000209.3(PDX1): c.590G> A (p.Arg197His) single nucleotide variant risk factor rs137852786 GRCh37 Chromosome 13, 28498576: 28498576
28 PDX1 NM_000209.3(PDX1): c.590G> A (p.Arg197His) single nucleotide variant risk factor rs137852786 GRCh38 Chromosome 13, 27924439: 27924439
29 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh37 Chromosome 13, 28494501: 28494501
30 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh38 Chromosome 13, 27920364: 27920364
31 PDX1 NM_000209.3(PDX1): c.176A> T (p.Gln59Leu) single nucleotide variant risk factor rs137852784 GRCh37 Chromosome 13, 28494451: 28494451
32 PDX1 NM_000209.3(PDX1): c.176A> T (p.Gln59Leu) single nucleotide variant risk factor rs137852784 GRCh38 Chromosome 13, 27920314: 27920314
33 PDX1 PDX1, 3-BP INS, 243CCG insertion risk factor
34 PDX1 NM_000209.3(PDX1): c.52T> C (p.Cys18Arg) single nucleotide variant Likely pathogenic rs137852785 GRCh37 Chromosome 13, 28494327: 28494327
35 PDX1 NM_000209.3(PDX1): c.52T> C (p.Cys18Arg) single nucleotide variant Likely pathogenic rs137852785 GRCh38 Chromosome 13, 27920190: 27920190
36 PDX1 NM_000209.3(PDX1): c.492G> T (p.Glu164Asp) single nucleotide variant Pathogenic,risk factor rs80356661 GRCh37 Chromosome 13, 28498478: 28498478
37 PDX1 NM_000209.3(PDX1): c.492G> T (p.Glu164Asp) single nucleotide variant Pathogenic,risk factor rs80356661 GRCh38 Chromosome 13, 27924341: 27924341
38 ABCC8 NM_000352.4(ABCC8): c.4135C> T (p.Arg1379Cys) single nucleotide variant Pathogenic rs137852673 GRCh37 Chromosome 11, 17417462: 17417462
39 ABCC8 NM_000352.4(ABCC8): c.4135C> T (p.Arg1379Cys) single nucleotide variant Pathogenic rs137852673 GRCh38 Chromosome 11, 17395915: 17395915
40 ABCC8 NM_001287174.1(ABCC8): c.1744C> G (p.Leu582Val) single nucleotide variant Pathogenic rs137852674 GRCh37 Chromosome 11, 17452434: 17452434
41 ABCC8 NM_001287174.1(ABCC8): c.1744C> G (p.Leu582Val) single nucleotide variant Pathogenic rs137852674 GRCh38 Chromosome 11, 17430887: 17430887
42 HNF4A NM_000457.4(HNF4A): c.829C> T (p.Gln277Ter) single nucleotide variant Pathogenic rs137853334 GRCh37 Chromosome 20, 43048453: 43048453
43 HNF4A NM_000457.4(HNF4A): c.829C> T (p.Gln277Ter) single nucleotide variant Pathogenic rs137853334 GRCh38 Chromosome 20, 44419813: 44419813
44 HNF4A NM_000457.4(HNF4A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs137853335 GRCh37 Chromosome 20, 43042435: 43042435
45 HNF4A NM_000457.4(HNF4A): c.487C> T (p.Arg163Ter) single nucleotide variant Pathogenic rs137853335 GRCh38 Chromosome 20, 44413795: 44413795
46 HNF4A NM_175914.4(HNF4A): c.340C> T (p.Arg114Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853336 GRCh37 Chromosome 20, 43042354: 43042354
47 HNF4A NM_175914.4(HNF4A): c.340C> T (p.Arg114Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853336 GRCh38 Chromosome 20, 44413714: 44413714
48 HNF4A NM_175914.4(HNF4A): c.1138G> A (p.Val380Ile) single nucleotide variant Uncertain significance rs137853337 GRCh37 Chromosome 20, 43057049: 43057049
49 HNF4A NM_175914.4(HNF4A): c.1138G> A (p.Val380Ile) single nucleotide variant Uncertain significance rs137853337 GRCh38 Chromosome 20, 44428409: 44428409
50 HNF4A HNF4A, 1-BP DEL, PHE75T deletion Pathogenic
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Expression for Maturity-Onset Diabetes of the Young, Type 1

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

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

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 66
Show member pathways
 13.34 AKT2 GCK HNF1A HNF1B HNF4A IRS1
2
Aldosterone synthesis and secretion 37
Show member pathways
 12.63 ABCC8 AKT2 GCK KCNJ11 PDX1 SLC2A2
3
Glucose / Energy Metabolism 4
12.46 AKT2 ENPP1 HNF1A HNF4A INSR IRS1
4
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.39 AKT2 ENPP1 INSR IRS1
5
Prolactin Signaling Pathway 1 37
Show member pathways
 12.35 AKT2 GCK IRS1 SLC2A2
6
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.34 AKT2 HNF1A HNF1B HNF4A
7
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.29 AKT2 HNF4A INSR IRS1
8
WNT Signaling 64
12.28 AKT2 HNF1A HNF1B HNF4A
9
Integration of energy metabolism 66
Show member pathways
 12.23 ABCC8 GCGR KCNJ11 SLC2A2
10
Hepatic ABC Transporters 64
Show member pathways
 11.95 GCK HNF1A HNF1B HNF4A INSR NEUROD1
11
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.89 HNF1B NEUROD1 PAX4 PDX1 SLC2A2
12
Cell cycle Cell cycle (generic schema) 22
Show member pathways
 11.85 AKT2 HNF1A HNF1B HNF4A
13
DNA Damage Response (only ATM dependent) 1
11.85 AKT2 INSR IRS1
14
Insulin resistance 37
Show member pathways
 11.85 AKT2 INSR IRS1 SLC2A2
15
Glucagon signaling pathway 37
11.81 AKT2 GCGR GCK SLC2A2
16
Type II diabetes mellitus 37 1
Show member pathways
 11.68 ABCC8 GCK HNF1A HNF1B HNF4A INSR
17
Central carbon metabolism in cancer 37
11.54 AKT2 GCK SLC2A2
18
Regulation of lipolysis in adipocytes 37
11.44 AKT2 INSR IRS1
19
Development_Leptin signaling via PI3K-dependent pathway 22
11.42 ABCC8 AKT2 IRS1 KCNJ11
20
FOXA2 and FOXA3 transcription factor networks 1
11.34 ABCC8 GCK HNF1A HNF4A KCNJ11 PDX1
21
Insulin Pathway 1
11.33 AKT2 INSR IRS1
22
Regulation of beta-cell development 66
Show member pathways
 11.28 AKT2 GCK HNF1A HNF1B HNF4A NEUROD1
23
Insulin signalling in human adipocytes (normal condition) 1
Show member pathways
 10.84 AKT2 INSR IRS1
24
Dichloroethylene metabolism 22
10.46 HNF1A HNF4A
Sources

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

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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 insulin receptor complex GO:0005899 8.96 INSR IRS1
2 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.95 ABCC8 HNF1B KCNJ11 NEUROD1 PAX4
2 carbohydrate metabolic process GO:0005975 9.91 AKT2 GCK INSR SLC2A2
3 animal organ morphogenesis GO:0009887 9.83 INSR PAX4 PDX1
4 cellular response to insulin stimulus GO:0032869 9.83 AKT2 ENPP1 GCK INSR IRS1
5 liver development GO:0001889 9.8 HNF1A HNF1B PDX1
6 insulin receptor signaling pathway GO:0008286 9.8 AKT2 INSR IRS1
7 glucose metabolic process GO:0006006 9.78 AKT2 GCK KCNJ11 PDX1
8 response to insulin GO:0032868 9.77 ABCC8 IRS1 RETN
9 response to glucose GO:0009749 9.77 HNF1A HNF1B HNF4A NEUROD1 SLC30A8
10 generation of precursor metabolites and energy GO:0006091 9.74 ENPP1 GCGR PDX1
11 endocrine pancreas development GO:0031018 9.71 HNF1A NEUROD1 PAX4 PDX1
12 positive regulation of glucose import GO:0046326 9.7 AKT2 INSR IRS1
13 negative regulation of insulin secretion GO:0046676 9.69 ABCC8 IRS1 KCNJ11
14 hindbrain development GO:0030902 9.67 HNF1B NEUROD1
15 signal transduction involved in regulation of gene expression GO:0023019 9.66 HNF4A NEUROD1
16 cellular glucose homeostasis GO:0001678 9.65 ABCC8 GCK
17 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.65 PDX1 WFS1
18 insulin secretion GO:0030073 9.65 HNF1A HNF1B NEUROD1 PDX1 SLC30A8
19 nitric oxide mediated signal transduction GO:0007263 9.64 NEUROD1 PDX1
20 hepatocyte differentiation GO:0070365 9.63 HNF1B HNF4A
21 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.63 NEUROD1 PDX1 WFS1
22 positive regulation of fatty acid beta-oxidation GO:0032000 9.62 AKT2 IRS1
23 positive regulation of glycogen biosynthetic process GO:0045725 9.62 AKT2 GCK INSR IRS1
24 positive regulation of glucose metabolic process GO:0010907 9.61 AKT2 IRS1
25 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.59 HNF1A HNF1B
26 exocrine pancreas development GO:0031017 9.58 INSR PDX1
27 regulation of cell cycle arrest GO:0071156 9.58 AKT2 NEUROD1
28 pancreas development GO:0031016 9.55 HNF1A HNF1B PAX4 PDX1 WFS1
29 detection of glucose GO:0051594 9.54 GCK PDX1
30 regulation of insulin secretion GO:0050796 9.5 ABCC8 GCK HNF1A HNF4A KCNJ11 NEUROD1
31 regulation of pronephros size GO:0035565 9.49 HNF1A HNF1B
32 glucose homeostasis GO:0042593 9.32 GCGR GCK HNF1A HNF4A INSR IRS1
33 regulation of transcription, DNA-templated GO:0006355 10.21 HNF1A HNF4A INSR MAPK8IP1 NEUROD1 PAX4
34 negative regulation of apoptotic process GO:0043066 10.04 AKT2 HNF1B INSR MAPK8IP1 PAX4
35 positive regulation of transcription, DNA-templated GO:0045893 10.03 HNF1A HNF1B HNF4A INSR NEUROD1 PDX1

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 DNA binding GO:0043565 9.43 HNF1A HNF1B HNF4A NEUROD1 PAX4 PDX1
2 insulin-like growth factor receptor binding GO:0005159 9.16 INSR IRS1
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11
Sources

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
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