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MODY3
MCID: MTR020
MIFTS: 54

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

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological 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 57 20 29 6 37 71
Mody3 57 12 20 73
Mody Type 3 12 20 73
Maturity-Onset Diabetes of the Young Type 3 12 15
Mody, Type Iii 57 13
Mody Hepatocyte Nuclear Factor-1-Alpha Related 20
Diabetes of the Young, Maturity-Onset, Type 3 39
Type 3 Maturity-Onset Diabetes of the Young 20
Maturity-Onset Diabetes of the Young 3 73
Diabetes Mellitus Mody Type 3 20
Mody, Type 3 57
Mody-3 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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: Endocrine diseases Liver diseases Neuronal diseases Nephrological diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0111102
OMIM® 57 600496
MeSH 44 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 hypoglycemia and hepatic adenomas, familial. 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 Glipizide and Glyburide have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and kidney, 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 83)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 30.3 SLC2A2 KCNJ11 INS GCK ABCC8
2 hepatic adenomas, familial 30.2 HNF4A HNF1A
3 diabetes mellitus, ketosis-prone 30.1 PAX4 KCNJ11 INS ABCC8
4 prediabetes syndrome 30.1 SLC2A2 INS HNF4A GCK
5 type 1 diabetes mellitus 29.6 PDX1 PAX4 NEUROD1 INS HNF4A HNF1A
6 glucose intolerance 29.3 NEUROD1 KCNJ11 INS HNF1A GCK ABCC8
7 gestational diabetes 29.3 KCNJ11 INS HNF4A HNF1A GCK ABCC8
8 monogenic diabetes 29.0 PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
9 hyperglycemia 28.7 SLC2A2 PDX1 PAX4 KCNJ11 INS HNF4A
10 insulinoma 28.6 SLC2A2 PDX1 PAX4 NEUROD1 INS HNF1A
11 type 2 diabetes mellitus 27.9 SLC2A2 PDX1 PCBD1 PAX4 NEUROD1 KCNJ11
12 maturity-onset diabetes of the young, type 1 27.7 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
13 renal cysts and diabetes syndrome 27.3 PDX1 PCBD1 PAX4 NEUROD1 KLF11 KCNJ11
14 maturity-onset diabetes of the young, type 2 27.3 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
15 diabetes mellitus 27.2 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
16 maturity-onset diabetes of the young 26.8 SLC2A2 PSMD9 PDX1 PCBD1 PAX4 NEUROD1
17 maturity-onset diabetes of the young, type 4 26.5 SLC2A2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11
18 hepatocellular adenoma 10.4
19 ocular motor apraxia 10.2
20 non-alcoholic fatty liver disease 10.2
21 allergic disease 10.2
22 adenoma 10.2
23 fatty liver disease 10.2
24 liver adenomatosis 10.2
25 type 1 diabetes mellitus 11 10.2 PDX1 NEUROD1 HNF1A
26 glycogen storage disease ia 10.1 PAGR1 INS HNF1A
27 acute insulin response 10.0 KCNJ11 INS ABCC8
28 munchausen by proxy 10.0 KCNJ11 GCK ABCC8
29 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0 INS HNF4A HNF1A GCK
30 asphyxia neonatorum 10.0 KCNJ11 INS ABCC8
31 hyperinsulinemic hypoglycemia, familial, 7 10.0 KCNJ11 GCK ABCC8
32 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 KCNJ11 INS ABCC8
33 hyperinsulinemic hypoglycemia, familial, 6 10.0 KCNJ11 GCK ABCC8
34 renal cell carcinoma, nonpapillary 10.0
35 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
36 type 1 diabetes mellitus 20 10.0
37 clear cell renal cell carcinoma 10.0
38 cantu syndrome 10.0 MIA2 KCNJ11 ABCC8
39 fanconi syndrome 9.9 SLC2A2 HNF4A HNF1A
40 exocrine pancreatic insufficiency 9.9 PDX1 CELA3B CEL
41 fructose-1,6-bisphosphatase deficiency 9.9 GCK ABCC8
42 renal glucosuria 9.9 SLC2A2 INS HNF1B HNF1A
43 factitious disorder 9.9 KCNJ11 INS GCK ABCC8
44 multiple endocrine neoplasia, type i 9.9 PDX1 PAGR1 INS
45 hyperinsulinemic hypoglycemia, familial, 2 9.9 KCNJ11 INS HNF4A ABCC8
46 depression 9.9
47 fanconi-bickel syndrome 9.9 SLC2A2 INS ABCC8
48 polyhydramnios 9.8 PAGR1 HNF1B ABCC8
49 cardiomyopathy, dilated, 1o 9.8 SLC2A2 KCNJ11 ABCC8
50 acanthosis nigricans 9.8

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 9.62 SLC2A2
2 Decreased viability GR00221-A-1 9.62 GCK
3 Decreased viability GR00221-A-2 9.62 GCK
4 Decreased viability GR00221-A-3 9.62 GCK
5 Decreased viability GR00221-A-4 9.62 BLK GCK
6 Decreased viability GR00249-S 9.62 HNF1B PCBD1 PSMD9
7 Decreased viability GR00381-A-1 9.62 C12orf43 PAGR1
8 Decreased viability GR00386-A-1 9.62 CEL HNF1B HNF4A PAX4 SLC2A2
9 Decreased viability GR00402-S-2 9.62 BLK C12orf43 MIA2 SLC2A2

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.1 ABCC8 BLK GCK HNF1A HNF1B HNF4A
2 growth/size/body region MP:0005378 10.07 ABCC8 CEL GCK HNF1A HNF1B HNF4A
3 homeostasis/metabolism MP:0005376 10.03 ABCC8 BLK CEL GCK HNF1A HNF1B
4 liver/biliary system MP:0005370 9.56 CEL GCK HNF1A HNF1B HNF4A INS
5 renal/urinary system MP:0005367 9.23 GCK HNF1A HNF1B HNF4A INS NEUROD1
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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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
2
Glyburide Approved Phase 4 10238-21-8 3488
3 Insulin, Globin Zinc Phase 4
4 Hypoglycemic Agents Phase 4
5 insulin Phase 4
6
Glucagon Approved 16941-32-5
7
Glimepiride Approved 93479-97-1 3476
8
gastric inhibitory polypeptide Investigational 100040-31-1
9 Immunosuppressive Agents
10 Gastrointestinal Agents
11 Hormones
12 Hormone Antagonists
13 Glucagon-Like Peptide 1
14 Immunologic Factors
15 Anti-Arrhythmia Agents
16 Incretins

Interventional clinical trials:


# 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 Enrolling by invitation NCT04239586 Phase 4 Sulfonylurea
2 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

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
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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, Kidney, Pancreatic Islet
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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 317)
# Title Authors PMID Year
1
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. 6 57 61
11058894 2000
2
Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. 61 57 6
9313763 1997
3
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) 57 61 6
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. 61 6
18003757 2008
6
Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). 61 6
15305805 2004
7
Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. 6 61
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. 57 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. 6 61
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. 6 61
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. 61 57
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 57
8782826 1996
21
Localization of MODY3 to a 5-cM region of human chromosome 12. 61 57
7589847 1995
22
Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM. 61 57
7556965 1995
23
Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus. 6
18811724 2009
24
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. 6
15649945 2005
25
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
26
Mutations in the hepatocyte nuclear factor-1alpha gene in Chinese MODY families: prevalence and functional analysis. 6
12107757 2002
27
Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes. 6
11938027 2002
28
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 57
11575290 2001
29
Early-onset type 2 diabetes: metabolic and genetic characterization in the mexican population. 57
11232004 2001
30
MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X). 6
11162430 2000
31
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
32
A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. 57
7795649 1995
33
MODY patients exhibit shorter telomere length than non-diabetic subjects. 61
32588935 2021
34
Monogenic diabetes: a new pathogenic variant of HNF1A gene. 61
33472798 2021
35
Molecular Dynamics Simulations Predict That rSNP Located in the HNF‑1α Gene Promotor Region Linked with MODY3 and Hepatocellular Carcinoma Promotes Stronger Binding of the HNF‑4α Transcription Factor. 61
33371430 2020
36
Efficacy and Safety of Glimepiride With or Without Linagliptin Treatment in Patients With HNF1A Diabetes (Maturity-Onset Diabetes of the Young Type 3): A Randomized, Double-Blinded, Placebo-Controlled, Crossover Trial (GLIMLINA). 61
32661107 2020
37
Defective functions of HNF1A variants on BCL2L1 transactivation and beta-cell growth. 61
32684311 2020
38
Recognition of maturity-onset diabetes of the young in China. 61
32741144 2020
39
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
40
Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant. 61
31844173 2020
41
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
42
Loss of HNF1α Function Contributes to Hepatocyte Proliferation and Abnormal Cholesterol Metabolism via Downregulating miR-122: A Novel Mechanism of MODY3. 61
32184642 2020
43
High Prevalence of a Monogenic Cause in Han Chinese Diagnosed With Type 1 Diabetes, Partly Driven by Nonsyndromic Recessive WFS1 Mutations. 61
31658956 2020
44
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
45
Incidence of HNF1A and GCK MODY Variants in a South African Population. 61
33363396 2020
46
A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family. 61
32670997 2020
47
Molecular Genetic Study in a Cohort of Iranian Families Suspected to Maturity-Onset Diabetes of the Young, Reveals a Recurrent Mutation and a High-Risk Variant in the CEL Gene. 61
33072637 2020
48
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
49
Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A. 61
31374199 2019
50
Using Clinical Indices to Distinguish MODY2 (GCK Mutation) and MODY3 (HNF1A Mutation) from Type 1 Diabetes in a Young Chinese Population. 61
31214998 2019
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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 174)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF1A HNF1A, 1-BP DEL Deletion Pathogenic 14929
2 HNF1A NM_000545.6(HNF1A):c.365A>G (p.Tyr122Cys) SNV Pathogenic 14930 rs137853237 12:121426674-121426674 12:120988871-120988871
3 HNF1A HNF1A, A-C, -58, PROMOTER SNV Pathogenic 14933
4 HNF1A NM_022895.3(C12orf43):c.*2998G>A SNV Pathogenic 14935 rs137853241 12:121438958-121438958 12:121001155-121001155
5 HNF1A HNF1A, 1-BP DEL, -119G, PROMOTER Deletion Pathogenic 14936
6 HNF1A NM_000545.6(HNF1A):c.714-1G>A SNV Pathogenic 14941 rs1463923467 12:121431966-121431966 12:120994163-120994163
7 HNF1A HNF1A, 4-BP DEL Deletion Pathogenic 14944
8 HNF1A HNF1A, 2-BP DEL, AG Deletion Pathogenic 14946
9 HNF1A NM_000545.6(HNF1A):c.130del (p.Leu44fs) Deletion Pathogenic 36798 rs193922578 12:121416697-121416697 12:120978894-120978894
10 HNF1A NM_000545.6(HNF1A):c.1137del (p.Val380fs) Deletion Pathogenic 435426 rs1555212248 12:121434373-121434373 12:120996570-120996570
11 HNF1A NM_000545.6(HNF1A):c.1359del (p.Ser454fs) Deletion Pathogenic 435427 rs1555212359 12:121435326-121435326 12:120997523-120997523
12 HNF1A NM_022895.3(C12orf43):c.*3039dup Duplication Pathogenic 438709 rs1555212747 12:121438916-121438917 12:121001113-121001114
13 HNF1A NM_000545.6(HNF1A):c.864_897del (p.Pro290fs) Deletion Pathogenic 585219 rs1565885935 12:121432116-121432149 12:120994313-120994346
14 HNF1A NM_000545.6(HNF1A):c.476G>A (p.Arg159Gln) SNV Pathogenic 586792 rs1172328722 12:121426785-121426785 12:120988982-120988982
15 HNF1A NM_000545.6(HNF1A):c.956-1G>C SNV Pathogenic 617646 rs1565886545 12:121434064-121434064 12:120996261-120996261
16 HNF1A NM_000545.8(HNF1A):c.1136del (p.Pro379fs) Deletion Pathogenic 802897 rs1593060859 12:121434367-121434367 12:120996564-120996564
17 HNF1A NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter) SNV Pathogenic 972766 12:121435363-121435363 12:120997560-120997560
18 HNF1A NM_000545.6(HNF1A):c.392G>A (p.Arg131Gln) SNV Pathogenic 562373 rs753998395 12:121426701-121426701 12:120988898-120988898
19 HNF1A NM_000545.8(HNF1A):c.1502-6G>A SNV Pathogenic 972783 12:121437065-121437065 12:120999262-120999262
20 HNF1A NM_000545.6(HNF1A):c.526C>T (p.Gln176Ter) SNV Pathogenic 372380 rs754728827 12:121426835-121426835 12:120989032-120989032
21 HNF1A NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) SNV Pathogenic 972818 12:121434371-121434371 12:120996568-120996568
22 HNF1A NM_000545.8(HNF1A):c.1541dup (p.His514fs) Duplication Pathogenic 976400 12:121437109-121437110 12:120999306-120999307
23 HNF1A NM_000545.6(HNF1A):c.872dup (p.Gly292fs) Duplication Pathogenic 14927 rs587776825 12:121432117-121432118 12:120994314-120994315
24 HNF1A NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu) SNV Pathogenic 14928 rs137853236 12:121435307-121435307 12:120997504-120997504
25 HNF1A NM_000545.6(HNF1A):c.827C>A (p.Ala276Asp) SNV Pathogenic 14945 rs137853245 12:121432080-121432080 12:120994277-120994277
26 HNF1A NM_000545.6(HNF1A):c.1720G>A (p.Gly574Ser) SNV Pathogenic 14939 rs1169305 12:121437382-121437382 12:120999579-120999579
27 HNF1A NM_000545.6(HNF1A):c.335C>T (p.Pro112Leu) SNV Pathogenic 14942 rs137853243 12:121426644-121426644 12:120988841-120988841
28 HNF1A NM_000545.6(HNF1A):c.391C>T (p.Arg131Trp) SNV Pathogenic 14943 rs137853244 12:121426700-121426700 12:120988897-120988897
29 HNF1A NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) SNV Pathogenic 14940 rs137853242 12:121437410-121437410 12:120999607-120999607
30 HNF1A NM_000545.6(HNF1A):c.864del (p.Pro291fs) Deletion Pathogenic 435424 rs762703502 12:121432115-121432115 12:120994312-120994312
31 HNF1A NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) Microsatellite Pathogenic 617650 rs776793516 12:121435295-121435296 12:120997492-120997493
32 HNF1A NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) SNV Pathogenic 431970 rs754729248 12:121434371-121434371 12:120996568-120996568
33 HNF1A NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu) SNV Pathogenic 14928 rs137853236 12:121435307-121435307 12:120997504-120997504
34 HNF1A NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys) SNV Pathogenic 447503 rs1555212014 12:121432067-121432067 12:120994264-120994264
35 HNF1A NM_000545.8(HNF1A):c.1624-2A>G SNV Likely pathogenic 931202 12:121437284-121437284 12:120999481-120999481
36 HNF1A NM_000545.6(HNF1A):c.1663C>T (p.Leu555Phe) SNV Likely pathogenic 36808 rs193922587 12:121437325-121437325 12:120999522-120999522
37 HNF1A NM_000545.6(HNF1A):c.467C>T (p.Thr156Met) SNV Likely pathogenic 36822 rs150513055 12:121426776-121426776 12:120988973-120988973
38 HNF1A NM_000545.6(HNF1A):c.1424C>T (p.Pro475Leu) SNV Likely pathogenic 36801 rs193922580 12:121435391-121435391 12:120997588-120997588
39 HNF1A NM_000545.6(HNF1A):c.1745A>G (p.His582Arg) SNV Likely pathogenic 36811 rs193922589 12:121437407-121437407 12:120999604-120999604
40 HNF1A NM_000545.6(HNF1A):c.827C>G (p.Ala276Gly) SNV Likely pathogenic 36832 rs137853245 12:121432080-121432080 12:120994277-120994277
41 HNF1A NM_000545.6(HNF1A):c.872C>G (p.Pro291Arg) SNV Likely pathogenic 36833 rs193922606 12:121432125-121432125 12:120994322-120994322
42 HNF1A NM_022895.3(C12orf43):c.*3028_*3035del Deletion Likely pathogenic 522535 rs1555212749 12:121438921-121438928 12:121001118-121001125
43 HNF1A NM_000545.6(HNF1A):c.670C>T (p.Pro224Ser) SNV Likely pathogenic 36826 rs193922600 12:121431466-121431466 12:120993663-120993663
44 HNF1A NM_000545.6(HNF1A):c.663_665GAA[1] (p.Lys222del) Microsatellite Likely pathogenic 36825 rs193922599 12:121431458-121431460 12:120993655-120993657
45 HNF1A NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) SNV Likely pathogenic 36824 rs193922598 12:121431394-121431394 12:120993591-120993591
46 HNF1A NM_000545.6(HNF1A):c.518_526+37del Deletion Likely pathogenic 36823 rs386134267 12:121426823-121426868 12:120989020-120989065
47 HNF1A NM_000545.6(HNF1A):c.441C>A (p.His147Gln) SNV Likely pathogenic 36821 rs193922597 12:121426750-121426750 12:120988947-120988947
48 HNF1A NM_000545.6(HNF1A):c.369_371GCA[4] (p.Gln125dup) Microsatellite Likely pathogenic 36820 rs193922596 12:121426677-121426678 12:120988874-120988875
49 HNF1A NM_000545.6(HNF1A):c.313dup (p.Glu105fs) Duplication Likely pathogenic 36817 rs193922594 12:121416882-121416883 12:120979079-120979080
50 HNF1A NM_000545.6(HNF1A):c.281C>T (p.Pro94Leu) SNV Likely pathogenic 36816 rs193922593 12:121416852-121416852 12:120979049-120979049

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 Cell Differentiation Pathways 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 23
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 chromatin GO:0000785 9.5 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.02 PSMD9 PDX1 PCBD1 NEUROD1 HNF4A HNF1B
2 response to drug GO:0042493 9.88 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
3 response to glucose GO:0009749 9.76 PDX1 NEUROD1 HNF4A HNF1A
4 liver development GO:0001889 9.73 PDX1 HNF1B HNF1A
5 glucose metabolic process GO:0006006 9.73 PDX1 KCNJ11 INS GCK
6 positive regulation of cell differentiation GO:0045597 9.71 PAX4 NEUROD1 INS
7 negative regulation of insulin secretion GO:0046676 9.69 PSMD9 KCNJ11 ABCC8
8 positive regulation of insulin secretion GO:0032024 9.67 PSMD9 PDX1 GCK BLK
9 glucose homeostasis GO:0042593 9.63 PDX1 NEUROD1 INS HNF4A HNF1A GCK
10 insulin secretion GO:0030073 9.62 PDX1 NEUROD1 HNF1B HNF1A
11 signal transduction involved in regulation of gene expression GO:0023019 9.61 NEUROD1 HNF4A
12 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.61 HNF1B HNF1A
13 negative regulation of gluconeogenesis GO:0045721 9.6 INS GCK
14 nitric oxide mediated signal transduction GO:0007263 9.59 PDX1 NEUROD1
15 inorganic cation transmembrane transport GO:0098662 9.58 KCNJ11 ABCC8
16 positive regulation of glycogen biosynthetic process GO:0045725 9.58 INS GCK
17 hepatocyte differentiation GO:0070365 9.57 HNF4A HNF1B
18 pancreas development GO:0031016 9.56 PDX1 PAX4 HNF1B HNF1A
19 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.55 PDX1 NEUROD1
20 detection of glucose GO:0051594 9.52 PDX1 GCK
21 regulation of pronephros size GO:0035565 9.49 HNF1B HNF1A
22 regulation of insulin secretion GO:0050796 9.43 SLC2A2 NEUROD1 KCNJ11 HNF4A GCK ABCC8
23 endocrine pancreas development GO:0031018 9.02 PDX1 PAX4 NEUROD1 HNF1B HNF1A

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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.87 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 sequence-specific double-stranded DNA binding GO:1990837 9.77 PDX1 PAX4 NEUROD1 KLF11 HNF4A
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.7 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
4 sequence-specific DNA binding GO:0043565 9.65 PDX1 NEUROD1 HNF4A HNF1B HNF1A
5 cation-transporting ATPase activity GO:0019829 9.4 KCNJ11 ABCC8
6 DNA-binding transcription factor activity GO:0003700 9.1 PDX1 NEUROD1 KLF11 HNF4A HNF1B HNF1A
7 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 KCNJ11 ABCC8
Sources

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

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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