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MODY3
MCID: MTR020
MIFTS: 55

Maturity-Onset Diabetes of the Young, Type 3 (MODY3)

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 3

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MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 3:

Name: Maturity-Onset Diabetes of the Young, Type 3 56 52 29 6 37 71
Mody3 56 12 52 73
Mody Type 3 12 52 73
Maturity-Onset Diabetes of the Young Type 3 12 15
Mody, Type Iii 56 13
Mody Hepatocyte Nuclear Factor-1-Alpha Related 52
Diabetes of the Young, Maturity-Onset, Type 3 39
Type 3 Maturity-Onset Diabetes of the Young 52
Maturity-Onset Diabetes of the Young 3 73
Diabetes Mellitus Mody Type 3 52
Mody, Type 3 56
Mody-3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant (12q22-qter)


HPO:

31
maturity-onset diabetes of the young, type 3:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111102
OMIM 56 600496
MeSH 43 D003924
MedGen 41 C1838100
UMLS 71 C1838100
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Summaries for Maturity-Onset Diabetes of the Young, Type 3

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UniProtKB/Swiss-Prot : 73 Maturity-onset diabetes of the young 3: 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 3, also known as mody3, is related to hepatic adenomas, familial and diabetes mellitus, ketosis-prone. An important gene associated with Maturity-Onset Diabetes of the Young, Type 3 is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. The drugs Metformin and Glipizide have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and testes, and related phenotypes are type ii diabetes mellitus and hyperglycemia

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in mutation in the HNF1A gene on chromosome 12q24.31.

More information from OMIM: 600496
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Related Diseases for Maturity-Onset Diabetes of the Young, Type 3

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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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 hepatic adenomas, familial 30.1 HNF4A HNF1A
2 diabetes mellitus, ketosis-prone 29.7 PAX4 KCNJ11 INS ABCC8
3 hypoglycemia 29.7 SLC2A2 KCNJ11 INS GCK ABCC8
4 gestational diabetes 29.3 KCNJ11 INS HNF4A HNF1A GCK ABCC8
5 monogenic diabetes 29.2 PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
6 diabetes mellitus, type i 28.8 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF4A
7 insulinoma 28.3 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1A
8 hyperglycemia 28.1 SLC2A2 PDX1 PAX4 KCNJ11 INS HNF4A
9 maturity-onset diabetes of the young, type 2 27.1 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
10 maturity-onset diabetes of the young, type 1 27.0 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
11 diabetes mellitus 26.7 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
12 diabetes mellitus, noninsulin-dependent 26.6 SLC2A2 PDX1 PCBD1 PAX4 NEUROD1 KCNJ11
13 maturity-onset diabetes of the young, type 4 26.3 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
14 renal cysts and diabetes syndrome 25.9 PDX1 PCBD1 PAX4 NEUROD1 KLF11 KCNJ11
15 maturity-onset diabetes of the young 24.8 SLC2A2 PSMD9 PDX1 PCBD1 PAX4 NEUROD1
16 rare genetic diabetes mellitus 10.3 HNF1A GCK
17 hepatocellular adenoma 10.2
18 adenoma 10.2
19 type 1 diabetes mellitus 11 10.2 PDX1 NEUROD1 HNF1A
20 glycogen storage disease ia 10.2 PAGR1 INS HNF1A
21 renal cell carcinoma, nonpapillary 10.2
22 diabetes mellitus, noninsulin-dependent, 2 10.2
23 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
24 diabetes mellitus, insulin-dependent, 20 10.2
25 ocular motor apraxia 10.1
26 body mass index quantitative trait locus 1 10.1
27 lymphoma 10.1
28 allergic hypersensitivity disease 10.1
29 fatty liver disease 10.1
30 47,xyy 10.1
31 liver adenomatosis 10.1
32 hyperinsulinemic hypoglycemia, familial, 6 10.0 GCK ABCC8
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0 INS HNF4A HNF1A GCK
34 acute insulin response 10.0 KCNJ11 INS ABCC8
35 munchausen by proxy 10.0 KCNJ11 GCK ABCC8
36 acanthosis nigricans 10.0
37 diabetes mellitus, insulin-dependent, 11 10.0
38 microvascular complications of diabetes 3 10.0
39 microvascular complications of diabetes 4 10.0
40 microvascular complications of diabetes 6 10.0
41 microvascular complications of diabetes 7 10.0
42 type 1 diabetes mellitus 2 10.0
43 lipid metabolism disorder 10.0
44 fibrosarcoma 10.0
45 liver disease 10.0
46 17q12 recurrent deletion syndrome 10.0
47 dwarfism 10.0
48 asphyxia neonatorum 10.0 KCNJ11 INS ABCC8
49 aminoaciduria 10.0 HNF4A HNF1A CLTRN
50 hyperinsulinemic hypoglycemia, familial, 7 10.0 KCNJ11 GCK ABCC8

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 3:



Diseases related to Maturity-Onset Diabetes of the Young, Type 3
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Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 3

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Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 3:

31
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 31 HP:0005978
2 hyperglycemia 31 HP:0003074
3 maturity-onset diabetes of the young 31 HP:0004904

Symptoms via clinical synopsis from OMIM:

56
Lab:
hyperglycemia
severe insulin secretory defect

Misc:
early age of onset (under 25 years)

Metabolic:
noninsulin-dependent diabetes mellitus
maturity-onset diabetes of the young (mody)

Clinical features from OMIM:

600496

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young, Type 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.64 SLC2A2
2 Decreased viability GR00221-A-1 9.64 GCK
3 Decreased viability GR00221-A-2 9.64 GCK
4 Decreased viability GR00221-A-3 9.64 GCK
5 Decreased viability GR00221-A-4 9.64 BLK GCK
6 Decreased viability GR00249-S 9.64 CLTRN HNF1B PCBD1 PSMD9
7 Decreased viability GR00381-A-1 9.64 C12orf43 CLTRN PAGR1
8 Decreased viability GR00386-A-1 9.64 HNF1B HNF4A PAX4 SLC2A2
9 Decreased viability GR00402-S-2 9.64 BLK C12orf43 MIA2 SLC2A2

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.11 ABCC8 BLK GCK HNF1A HNF1B INS
2 growth/size/body region MP:0005378 10.1 CLTRN GCK HNF1A HNF1B HNF4A INS
3 homeostasis/metabolism MP:0005376 10.1 ABCC8 CLTRN GCK HNF1A HNF1B HNF4A
4 liver/biliary system MP:0005370 9.7 GCK HNF1A HNF1B HNF4A INS PDX1
5 muscle MP:0005369 9.5 CLTRN HNF1A HNF1B INS KCNJ11 PDX1
6 renal/urinary system MP:0005367 9.28 CLTRN GCK HNF1A HNF1B HNF4A INS
Sources

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 3

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Drugs for Maturity-Onset Diabetes of the Young, Type 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
3
Glyburide Approved Phase 4 10238-21-8 3488
4 Dipeptidyl-Peptidase IV Inhibitors Phase 4
5 Sitagliptin Phosphate Phase 4
6 Insulin, Globin Zinc Phase 4
7 Hypoglycemic Agents Phase 4
8 insulin Phase 4
9
Glimepiride Approved Phase 2, Phase 3 93479-97-1 3476
10
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
11 Immunologic Factors Phase 2, Phase 3
12 Hormones Phase 2, Phase 3
13 Anti-Arrhythmia Agents Phase 2, Phase 3
14 Glucagon-Like Peptide 1 Phase 2, Phase 3
15 Hormone Antagonists Phase 2, Phase 3
16 Immunosuppressive Agents Phase 2, Phase 3
17 Incretins Phase 2, Phase 3
18
Glucagon Approved 16941-32-5
19
carbamide peroxide Approved 124-43-6
20
gastric inhibitory polypeptide Investigational 100040-31-1
21 Gastrointestinal Agents
22
protease inhibitors
23 HIV Protease Inhibitors
24 Immunoglobulins
25 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotypic and Genetic Correlates of Diabetes (Non-Type 1) in Young Non-Obese Asian Indians in North India and A Study to Evaluate the Efficacy of Sitagliptin (DPP-4 Inhibitor) in a Sub-group of the Study Population Completed NCT00964184 Phase 4 Metformin
2 Switching From Insulin to Sulfonylurea in Childhood and Adult Diabetes Due to Variants in the HNF1A, HNF4A, or HNF1B Genes Enrolling by invitation NCT04239586 Phase 4 Sulfonylurea
3 Phase 2 Study: A Double-blind, Randomised, Clinical Cross-over Trial to Investigate the Treatment Potential of Liraglutide Compared to Glimepiride in MODY Patients Completed NCT01610934 Phase 2, Phase 3 liraglutide;Glimepiride
4 The Effect of GIP and GLP-1 on Insulin and Glucagon Secretion in Patients With HNF1A-diabetes Treated With or Without Sulphonylurea Completed NCT03081676 Glimepiride 1Mg Tablet;Glucagon-like Peptide-1;Glucose-Dependent Insulinotropic Polypeptide;Placebo Oral Tablet;Placebo infusion
5 Postprandial Secretion of of Incretin Hormones and Incretin Effect in Patients With Maturity-onset Diabetes of the Young (MODY) Completed NCT01342939
6 Constitution of a Cohort of Families With Monogenic Diabetes to Identify Novel Causes of Non Auto-immune Diabetes Mellitus in Children and Young Adults Completed NCT02634229

Search NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 3

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Genetic Tests for Maturity-Onset Diabetes of the Young, Type 3

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Genetic tests related to Maturity-Onset Diabetes of the Young, Type 3:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 3 29 HNF1A
Sources

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 3

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MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 3:

40
Liver, Pancreas, Testes, Pancreatic Islet, Kidney
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Publications for Maturity-Onset Diabetes of the Young, Type 3

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Articles related to Maturity-Onset Diabetes of the Young, Type 3:

(show top 50) (show all 310)
# Title Authors PMID Year
1
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. 56 6 61
11058894 2000
2
Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 6 56 61
9313763 1997
3
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) 61 6 56
8945470 1996
4
Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database. 61 6
21224407 2011
5
The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. 6 61
18003757 2008
6
Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). 6 61
15305805 2004
7
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. 61 6
12574234 2003
8
Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect. 61 6
12453976 2002
9
Bi-allelic inactivation of TCF1 in hepatic adenomas. 61 6
12355088 2002
10
Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. 56 61
12050210 2002
11
Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1alpha (TCF1) promoter region in MODY patients. 6 61
10649494 2000
12
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing. 6 61
10482964 1999
13
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes. 61 6
9754819 1998
14
Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene. 61 6
9313764 1997
15
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). 6 61
9097962 1997
16
Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. 61 6
9075819 1997
17
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. 61 6
9032114 1997
18
Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect. 56 61
9045858 1997
19
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. 61 6
8866553 1996
20
Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. 61 56
8782826 1996
21
Localization of MODY3 to a 5-cM region of human chromosome 12. 61 56
7589847 1995
22
Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM. 56 61
7556965 1995
23
Maturity-Onset Diabetes of the Young Overview 6
29792621 2018
24
Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. 6
18811724 2009
25
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 6
15649945 2005
26
A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene. 6
15031772 2004
27
Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: prevalence and functional analysis. 6
12107757 2002
28
Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes. 6
11938027 2002
29
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 56
11575290 2001
30
Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population. 56
11232004 2001
31
MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X). 6
11162430 2000
32
Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY. 6
10588527 1999
33
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. 6
9439666 1997
34
A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. 56
7795649 1995
35
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion. 61
32375679 2020
36
Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant. 61
31844173 2020
37
Primary hepatocellular adenoma due to biallelic HNF1A mutations and its co-occurrence with MODY 3: case-report and review of the literature. 61
31754975 2020
38
Loss of HNF1α Function Contributes to Hepatocyte Proliferation and Abnormal Cholesterol Metabolism via Downregulating miR-122: A Novel Mechanism of MODY3. 61
32184642 2020
39
High Prevalence of a Monogenic Cause in Han Chinese Diagnosed With Type 1 Diabetes, Partly Driven by Nonsyndromic Recessive WFS1 Mutations. 61
31658956 2020
40
Liver adenomatosis in patients with hepatocyte nuclear factor-1 alpha maturity onset diabetes of the young (HNF1A-MODY): Clinical, radiological and pathological characteristics in a French series. 61
31166087 2020
41
Molecular diagnosis of MODY3 permitted to reveal a de novo 12q24.31 deletion and to explain a complex phenotype in a young diabetic patient. 61
31188748 2019
42
Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A. 61
31374199 2019
43
Using Clinical Indices to Distinguish MODY2 (GCK Mutation) and MODY3 (HNF1A Mutation) from Type 1 Diabetes in a Young Chinese Population. 61
31214998 2019
44
Novel insights into genetics and clinics of the HNF1A-MODY. 61
31517624 2019
45
Screening of HNF1A and HNF4A mutation and clinical phenotype analysis in a large cohort of Chinese patients with maturity-onset diabetes of the young. 61
30293189 2019
46
Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran. 61
31673528 2019
47
Expression of mutant mRNA and protein in pancreatic cells derived from MODY3- iPS cells. 61
31145732 2019
48
Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family. 61
30814848 2019
49
Mexican Carriers of the HNF1A p.E508K Variant Do Not Experience an Enhanced Response to Sulfonylureas. 61
29844095 2018
50
Improvement of hyperglycemia in a murine model of insulin resistance and high glucose- and inflammasome-mediated IL-1β expressions in macrophages by silymarin. 61
29753610 2018
Sources

Variations for Maturity-Onset Diabetes of the Young, Type 3

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ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 3:

6 (show top 50) (show all 140) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF1A NM_000545.6(HNF1A):c.1137del (p.Val380fs)deletion Pathogenic 435426 rs1555212248 12:121434373-121434373 12:120996570-120996570
2 HNF1A NM_000545.6(HNF1A):c.1359del (p.Ser454fs)deletion Pathogenic 435427 rs1555212359 12:121435326-121435326 12:120997523-120997523
3 HNF1A NM_000545.6(HNF1A):c.864del (p.Pro291fs)deletion Pathogenic 435424 rs762703502 12:121432115-121432115 12:120994312-120994312
4 HNF1A NM_022895.3(C12orf43):c.*3039dupduplication Pathogenic 438709 rs1555212747 12:121438916-121438917 12:121001113-121001114
5 HNF1A NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys)SNV Pathogenic 447503 rs1555212014 12:121432067-121432067 12:120994264-120994264
6 HNF1A NM_000545.6(HNF1A):c.864_897del (p.Pro290fs)deletion Pathogenic 585219 rs1565885935 12:121432116-121432149 12:120994313-120994346
7 HNF1A NM_000545.6(HNF1A):c.476G>A (p.Arg159Gln)SNV Pathogenic 586792 rs1172328722 12:121426785-121426785 12:120988982-120988982
8 HNF1A NM_000545.6(HNF1A):c.956-1G>CSNV Pathogenic 617646 rs1565886545 12:121434064-121434064 12:120996261-120996261
9 HNF1A NM_000545.6(HNF1A):c.1328_1329CA[1] (p.Gln444fs)short repeat Pathogenic 617650 rs776793516 12:121435295-121435296 12:120997492-120997493
10 HNF1A NM_000545.8(HNF1A):c.1136del (p.Pro379fs)deletion Pathogenic 802897 12:121434367-121434367 12:120996564-120996564
11 HNF1A NM_000545.6(HNF1A):c.872dup (p.Gly292fs)duplication Pathogenic 14927 rs587776825 12:121432117-121432118 12:120994314-120994315
12 HNF1A NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu)SNV Pathogenic 14928 rs137853236 12:121435307-121435307 12:120997504-120997504
13 HNF1A HNF1A, 1-BP DELdeletion Pathogenic 14929
14 HNF1A NM_000545.6(HNF1A):c.365A>G (p.Tyr122Cys)SNV Pathogenic 14930 rs137853237 12:121426674-121426674 12:120988871-120988871
15 HNF1A HNF1A, A-C, -58, PROMOTERSNV Pathogenic 14933
16 HNF1A NM_022895.3(C12orf43):c.*2998G>ASNV Pathogenic 14935 rs137853241 12:121438958-121438958 12:121001155-121001155
17 HNF1A HNF1A, 1-BP DEL, -119G, PROMOTERdeletion Pathogenic 14936
18 HNF1A NM_000545.6(HNF1A):c.714-1G>ASNV Pathogenic 14941 rs1463923467 12:121431966-121431966 12:120994163-120994163
19 HNF1A NM_000545.6(HNF1A):c.335C>T (p.Pro112Leu)SNV Pathogenic 14942 rs137853243 12:121426644-121426644 12:120988841-120988841
20 HNF1A NM_000545.6(HNF1A):c.391C>T (p.Arg131Trp)SNV Pathogenic 14943 rs137853244 12:121426700-121426700 12:120988897-120988897
21 HNF1A HNF1A, 4-BP DELdeletion Pathogenic 14944
22 HNF1A HNF1A, 2-BP DEL, AGdeletion Pathogenic 14946
23 HNF1A NM_000545.6(HNF1A):c.130del (p.Leu44fs)deletion Pathogenic 36798 rs193922578 12:121416697-121416697 12:120978894-120978894
24 HNF1A NM_000545.6(HNF1A):c.1A>G (p.Met1Val)SNV Pathogenic/Likely pathogenic 36814 rs193922592 12:121416572-121416572 12:120978769-120978769
25 HNF1A NM_000545.6(HNF1A):c.281C>T (p.Pro94Leu)SNV Likely pathogenic 36816 rs193922593 12:121416852-121416852 12:120979049-120979049
26 HNF1A NM_000545.6(HNF1A):c.313dup (p.Glu105fs)duplication Likely pathogenic 36817 rs193922594 12:121416882-121416883 12:120979079-120979080
27 HNF1A NM_000545.6(HNF1A):c.1663C>T (p.Leu555Phe)SNV Likely pathogenic 36808 rs193922587 12:121437325-121437325 12:120999522-120999522
28 HNF1A NM_000545.6(HNF1A):c.169del (p.Leu57fs)deletion Likely pathogenic 36809 rs193922588 12:121416740-121416740 12:120978937-120978937
29 HNF1A NM_000545.6(HNF1A):c.1745A>G (p.His582Arg)SNV Likely pathogenic 36811 rs193922589 12:121437407-121437407 12:120999604-120999604
30 HNF1A NM_000545.6(HNF1A):c.518_526+37deldeletion Likely pathogenic 36823 rs386134267 12:121426823-121426868 12:120989020-120989065
31 HNF1A NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)SNV Likely pathogenic 36824 rs193922598 12:121431394-121431394 12:120993591-120993591
32 HNF1A NM_000545.6(HNF1A):c.663_665GAA[1] (p.Lys222del)short repeat Likely pathogenic 36825 rs193922599 12:121431458-121431460 12:120993655-120993657
33 HNF1A NM_000545.6(HNF1A):c.670C>T (p.Pro224Ser)SNV Likely pathogenic 36826 rs193922600 12:121431466-121431466 12:120993663-120993663
34 HNF1A NM_000545.6(HNF1A):c.369_371GCA[4] (p.Gln125dup)short repeat Likely pathogenic 36820 rs193922596 12:121426677-121426678 12:120988874-120988875
35 HNF1A NM_000545.6(HNF1A):c.441C>A (p.His147Gln)SNV Likely pathogenic 36821 rs193922597 12:121426750-121426750 12:120988947-120988947
36 HNF1A NM_000545.6(HNF1A):c.731G>T (p.Arg244Ile)SNV Likely pathogenic 36828 rs193922602 12:121431984-121431984 12:120994181-120994181
37 HNF1A NM_000545.6(HNF1A):c.790G>T (p.Val264Phe)SNV Likely pathogenic 36830 rs193922604 12:121432043-121432043 12:120994240-120994240
38 HNF1A NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser)SNV Likely pathogenic 36831 rs193922605 12:121432056-121432056 12:120994253-120994253
39 HNF1A NM_000545.6(HNF1A):c.827C>G (p.Ala276Gly)SNV Likely pathogenic 36832 rs137853245 12:121432080-121432080 12:120994277-120994277
40 HNF1A NM_000545.6(HNF1A):c.872C>G (p.Pro291Arg)SNV Likely pathogenic 36833 rs193922606 12:121432125-121432125 12:120994322-120994322
41 HNF1A NM_000545.6(HNF1A):c.1504_1505CT[3] (p.Tyr503fs)short repeat Likely pathogenic 36803 rs193922582 12:121437072-121437073 12:120999269-120999270
42 HNF1A NM_000545.6(HNF1A):c.1129del (p.Leu377fs)deletion Likely pathogenic 36796 rs193922576 12:121434361-121434361 12:120996558-120996558
43 HNF1A NM_000545.6(HNF1A):c.1265T>C (p.Leu422Pro)SNV Likely pathogenic 36797 rs193922577 12:121434501-121434501 12:120996698-120996698
44 HNF1A NM_000545.6(HNF1A):c.827C>A (p.Ala276Asp)SNV Likely pathogenic 14945 rs137853245 12:121432080-121432080 12:120994277-120994277
45 HNF1A NM_000545.6(HNF1A):c.676_678del (p.Lys226del)deletion Likely pathogenic 435428 rs1555211927 12:121431472-121431474 12:120993669-120993671
46 HNF1A NM_022895.3(C12orf43):c.*3028_*3035deldeletion Likely pathogenic 522535 rs1555212749 12:121438921-121438928 12:121001118-121001125
47 HNF1A NM_000545.6(HNF1A):c.1501+1G>ASNV Likely pathogenic 430837 rs1131692182 12:121435469-121435469 12:120997666-120997666
48 HNF1A NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala)SNV Conflicting interpretations of pathogenicity 431970 rs754729248 12:121434371-121434371 12:120996568-120996568
49 HNF1A NM_000545.6(HNF1A):c.29C>T (p.Thr10Met)SNV Conflicting interpretations of pathogenicity 435422 rs774637975 12:121416600-121416600 12:120978797-120978797
50 HNF1A NM_000545.6(HNF1A):c.1501+6C>TSNV Conflicting interpretations of pathogenicity 435420 rs374306837 12:121435474-121435474 12:120997671-120997671

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 3:

73 (show all 37)
# Symbol AA change Variation ID SNP ID
1 HNF1A p.Tyr122Cys VAR_003756
2 HNF1A p.Ser142Phe VAR_003757
3 HNF1A p.Arg159Gln VAR_003758
4 HNF1A p.Arg272His VAR_003759
5 HNF1A p.Pro447Leu VAR_003760
6 HNF1A p.Leu12His VAR_010537
7 HNF1A p.Gly31Asp VAR_010538
8 HNF1A p.Leu107Arg VAR_010541
9 HNF1A p.Lys117Glu VAR_010542
10 HNF1A p.Ile128Asn VAR_010543
11 HNF1A p.Pro129Thr VAR_010544
12 HNF1A p.Arg131Gln VAR_010545
13 HNF1A p.Arg131Trp VAR_010546
14 HNF1A p.Val133Met VAR_010547
15 HNF1A p.His143Tyr VAR_010548
16 HNF1A p.Lys158Asn VAR_010549
17 HNF1A p.Arg159Trp VAR_010550
18 HNF1A p.Ala161Thr VAR_010551
19 HNF1A p.Arg203Cys VAR_010554
20 HNF1A p.Lys205Gln VAR_010555
21 HNF1A p.Arg229Gln VAR_010556
22 HNF1A p.Cys241Gly VAR_010557
23 HNF1A p.Val259Asp VAR_010559
24 HNF1A p.Thr260Met VAR_010560
25 HNF1A p.Arg263Cys VAR_010561
26 HNF1A p.Arg271Trp VAR_010562
27 HNF1A p.Pro519Leu VAR_010567
28 HNF1A p.Thr537Arg VAR_010568
29 HNF1A p.Ser594Ile VAR_010571
30 HNF1A p.Glu619Lys VAR_010572
31 HNF1A p.Thr620Ile VAR_010573
32 HNF1A p.Gly20Arg VAR_012483
33 HNF1A p.Arg203His VAR_012484
34 HNF1A p.Ser432Cys VAR_012485
35 HNF1A p.Ile618Met VAR_012486
36 HNF1A p.Arg200Trp VAR_063069
37 HNF1A p.Arg271Gly VAR_079479

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Expression for Maturity-Onset Diabetes of the Young, Type 3

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Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 3.
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Pathways for Maturity-Onset Diabetes of the Young, Type 3

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Pathways related to Maturity-Onset Diabetes of the Young, Type 3 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 13.32 SLC2A2 PSMD9 PDX1 PAX4 PAGR1 NEUROD1
2
Aldosterone synthesis and secretion 36
Show member pathways
 12.68 SLC2A2 PDX1 KCNJ11 INS GCK ABCC8
3
Glucose / Energy Metabolism 4
12.29 PDX1 NEUROD1 INS HNF4A HNF1A
4
Integration of energy metabolism 65
Show member pathways
 12.14 SLC2A2 KCNJ11 INS ABCC8
5
Hepatic ABC Transporters 63
Show member pathways
 11.95 SLC2A2 PDX1 NEUROD1 INS HNF4A HNF1B
6
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 64
11.92 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1B
7
Regulation of beta-cell development 65
Show member pathways
 11.61 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF4A
8
FOXA2 and FOXA3 transcription factor networks 1
11.4 SLC2A2 PDX1 KCNJ11 INS HNF4A HNF1A
9
Type II diabetes mellitus 36 1
Show member pathways
 11.3 SLC2A2 PDX1 NEUROD1 KCNJ11 INS HNF4A
10
Cori Cycle 1
10.7 SLC2A2 INS
11
Dichloroethylene metabolism 22
10.36 HNF4A HNF1A
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GO Terms for Maturity-Onset Diabetes of the Young, Type 3

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Cellular components related to Maturity-Onset Diabetes of the Young, Type 3 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 3 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 PDX1 PAGR1 NEUROD1 KLF11 HNF4A HNF1B
2 regulation of transcription by RNA polymerase II GO:0006357 10.05 PDX1 PAX4 KLF11 HNF4A HNF1B HNF1A
3 positive regulation of transcription, DNA-templated GO:0045893 10.02 PSMD9 PDX1 PCBD1 NEUROD1 HNF4A HNF1B
4 response to drug GO:0042493 9.91 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
5 liver development GO:0001889 9.76 PDX1 HNF1B HNF1A
6 glucose metabolic process GO:0006006 9.76 PDX1 KCNJ11 INS GCK
7 positive regulation of cell differentiation GO:0045597 9.71 PAX4 NEUROD1 INS
8 positive regulation of insulin secretion GO:0032024 9.71 PSMD9 PDX1 GCK BLK
9 negative regulation of insulin secretion GO:0046676 9.69 PSMD9 KCNJ11 ABCC8
10 insulin secretion GO:0030073 9.67 PDX1 NEUROD1 HNF1B HNF1A
11 hindbrain development GO:0030902 9.63 NEUROD1 HNF1B
12 signal transduction involved in regulation of gene expression GO:0023019 9.62 NEUROD1 HNF4A
13 nitric oxide mediated signal transduction GO:0007263 9.62 PDX1 NEUROD1
14 pancreas development GO:0031016 9.62 PDX1 PAX4 HNF1B HNF1A
15 negative regulation of gluconeogenesis GO:0045721 9.61 INS GCK
16 positive regulation of glycogen biosynthetic process GO:0045725 9.61 INS GCK
17 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.6 HNF1B HNF1A
18 hepatocyte differentiation GO:0070365 9.59 HNF4A HNF1B
19 inorganic cation transmembrane transport GO:0098662 9.56 KCNJ11 ABCC8
20 endocrine pancreas development GO:0031018 9.56 PDX1 PAX4 NEUROD1 HNF1A
21 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.55 PDX1 NEUROD1
22 response to glucose GO:0009749 9.55 PDX1 NEUROD1 HNF4A HNF1B HNF1A
23 detection of glucose GO:0051594 9.52 PDX1 GCK
24 regulation of pronephros size GO:0035565 9.49 HNF1B HNF1A
25 glucose homeostasis GO:0042593 9.43 PDX1 NEUROD1 INS HNF4A HNF1A GCK
26 regulation of insulin secretion GO:0050796 9.1 SLC2A2 NEUROD1 KCNJ11 HNF4A GCK ABCC8

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 PDX1 PAX4 NEUROD1 HNF4A HNF1A
2 DNA-binding transcription factor activity GO:0003700 9.8 PDX1 NEUROD1 KLF11 HNF4A HNF1B HNF1A
3 sequence-specific DNA binding GO:0043565 9.63 PDX1 PAX4 NEUROD1 HNF4A HNF1B HNF1A
4 double-stranded DNA binding GO:0003690 9.61 PAX4 NEUROD1 HNF1A
5 transcription regulatory region DNA binding GO:0044212 9.56 KLF11 HNF4A HNF1B HNF1A
6 cation-transporting ATPase activity GO:0019829 9.37 KCNJ11 ABCC8
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
8 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 KCNJ11 ABCC8
Sources

Sources for Maturity-Onset Diabetes of the Young, Type 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
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
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