MODY3
MCID: MTR020
MIFTS: 53

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

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 3

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

Name: Maturity-Onset Diabetes of the Young, Type 3 57 53 29 6 38 73
Mody3 57 12 53 75
Mody Type 3 12 53 75
Maturity-Onset Diabetes of the Young Type 3 12 15
Mody, Type Iii 57 13
Mody Hepatocyte Nuclear Factor-1-Alpha Related 53
Diabetes of the Young, Maturity-Onset, Type 3 40
Type 3 Maturity-Onset Diabetes of the Young 53
Maturity-Onset Diabetes of the Young 3 75
Diabetes Mellitus Mody Type 3 53
Mody, Type 3 57
Mody-3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (12q22-qter)


HPO:

32
maturity-onset diabetes of the young, type 3:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600496
Disease Ontology 12 DOID:0111102
MedGen 42 C1838100
MeSH 44 D003924
UMLS 73 C1838100

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

UniProtKB/Swiss-Prot : 75 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 monogenic diabetes and maturity-onset diabetes of the young, type 2. 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 Glucose / Energy Metabolism. The drugs Liraglutide and Glimepiride 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.

Description from OMIM: 600496

Related Diseases for Maturity-Onset Diabetes of the Young, Type 3

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 all 40)
# Related Disease Score Top Affiliating Genes
1 monogenic diabetes 29.4 GCK HNF1A HNF4A INS PDX1
2 maturity-onset diabetes of the young, type 2 29.3 GCK HNF1A HNF1B HNF4A INS PDX1
3 maturity-onset diabetes of the young 29.3 GCK HNF1A HNF1B HNF4A INS NEUROD1
4 diabetes mellitus 29.1 GCK HNF1A HNF1B HNF4A INS NEUROD1
5 renal cysts and diabetes syndrome 28.6 GCK HNF1A HNF1B HNF4A NEUROD1 PCBD1
6 diabetes mellitus, noninsulin-dependent 28.3 GCK HNF1A HNF1B HNF4A INS NEUROD1
7 type 1 diabetes mellitus 11 10.1 HNF1A INS
8 maturity-onset diabetes of the young, type 14 10.1 GCK HNF1A
9 endocrine pancreas disease 10.1 GCK INS
10 diabetes mellitus, ketosis-prone 10.1
11 lymphoma 10.1
12 hypoglycemia 10.1
13 carpal tunnel syndrome 10.1 INS PSMD9
14 aminoaciduria 10.1 HNF1A HNF4A
15 retinal vascular disease 10.0 INS PSMD9
16 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 GCK INS
17 pancreatic cystadenoma 10.0 INS PDX1
18 glucose metabolism disease 10.0 GCK INS PSMD9
19 intestinal atresia 10.0 GCK PDX1
20 acquired metabolic disease 10.0 GCK INS PSMD9
21 hyperinsulinemic hypoglycemia 10.0 GCK HNF4A INS
22 hepatocellular adenoma 10.0
23 adenoma 10.0
24 type 1 diabetes mellitus 7 10.0 INS NEUROD1
25 gestational diabetes 9.9 GCK HNF4A INS
26 hyperinsulinism 9.9 GCK HNF4A INS
27 chromophobe renal cell carcinoma 9.9 HNF1A HNF1B
28 pancreatic agenesis 9.9 GCK INS PDX1
29 diabetes mellitus, permanent neonatal 9.9 GCK INS PDX1
30 insulinoma 9.9 GCK INS PDX1
31 autosomal genetic disease 9.9 GCK HNF1A INS PSMD9
32 polycystic kidney disease 4 with or without polycystic liver disease 9.9 HNF1A HNF1B
33 hyperglycemia 9.8 GCK HNF1A INS PDX1
34 maturity-onset diabetes of the young, type 4 9.6 GCK HNF1A HNF1B HNF4A PDX1
35 maturity-onset diabetes of the young, type 13 9.6 GCK HNF1A HNF4A INS NEUROD1
36 diabetes mellitus, insulin-dependent 9.5 GCK HNF1A INS NEUROD1 PDX1
37 neonatal diabetes mellitus 9.4 GCK HNF1B INS NEUROD1 PDX1
38 maturity-onset diabetes of the young, type 6 9.1 GCK HNF1A HNF1B HNF4A INS NEUROD1
39 maturity-onset diabetes of the young, type 7 9.1 GCK HNF1A HNF1B HNF4A INS NEUROD1
40 maturity-onset diabetes of the young, type 1 9.1 GCK HNF1A HNF1B HNF4A INS NEUROD1

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 32 HP:0005978
2 hyperglycemia 32 HP:0003074
3 maturity-onset diabetes of the young 32 HP:0004904

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.87 GCK HNF1A HNF1B HNF4A INS NEUROD1
2 homeostasis/metabolism MP:0005376 9.86 GCK HNF1A HNF1B HNF4A INS NEUROD1
3 endocrine/exocrine gland MP:0005379 9.85 GCK HNF1A HNF1B INS NEUROD1 PDX1
4 liver/biliary system MP:0005370 9.63 GCK HNF1A HNF1B HNF4A INS PDX1
5 mortality/aging MP:0010768 9.5 GCK HNF1A HNF1B HNF4A INS NEUROD1
6 renal/urinary system MP:0005367 9.17 GCK HNF1A HNF1B INS NEUROD1 PCBD1

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

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
2
Glimepiride Approved Phase 2, Phase 3,Not Applicable 93479-97-1 3476
3 Hypoglycemic Agents Phase 2, Phase 3,Not Applicable
4 Hormone Antagonists Phase 2, Phase 3,Not Applicable
5 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
6 Incretins Phase 2, Phase 3,Not Applicable
7 Anti-Arrhythmia Agents Phase 2, Phase 3,Not Applicable
8 Hormones Phase 2, Phase 3,Not Applicable
9 Immunologic Factors Phase 2, Phase 3,Not Applicable
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Not Applicable
11 Glucagon-Like Peptide 1 Phase 2, Phase 3,Not Applicable
12
Gliclazide Approved Not Applicable 21187-98-4 3475
13 gastric inhibitory polypeptide Not Applicable
14 Insulin, Globin Zinc Not Applicable
15 glucagon Not Applicable
16 Gastrointestinal Agents Not Applicable
17 insulin Not Applicable
18 Sitagliptin Phosphate
19
protease inhibitors
20 Dipeptidyl-Peptidase IV Inhibitors
21 HIV Protease Inhibitors
22 Antibodies
23 Immunoglobulins
24 Tin Fluorides Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effects of GLP-1 in Maturity-Onset Diabetes of The Young (MODY) Completed NCT01610934 Phase 2, Phase 3 liraglutide;Glimepiride
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 Not Applicable Glimepiride 1Mg Tablet;Glucagon-like Peptide-1;Glucose-Dependent Insulinotropic Polypeptide;Placebo Oral Tablet;Placebo infusion
3 Pathophysiological Implications of the Incretin Hormones in Maturity Onset of Diabetes of the Young (MODY) Completed NCT01342939
4 Predisposition Genes in Monogenic Diabetes (DIAMONO) Completed NCT02634229
5 Glucagon in MODY (Maturity Onset Diabetes of the Young) Recruiting NCT03246828 Not Applicable

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

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

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

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

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

41
Liver, Pancreas, Kidney, Testes

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

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

(show all 45)
# Title Authors Year
1
The unique clinical spectrum of maturity onset diabetes of the young type 3. ( 29107759 )
2018
2
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 3 (MODY3) carrying a hepatocyte nuclear factor 1-alpha (HNF1A) mutation. ( 29597128 )
2018
3
Exploring the role of miRNAs in the diagnosis of MODY3 ( 29916222 )
2018
4
Divergent phenotypes in siblings with identical novel mutations in the HNF-1I+ gene leading to maturity onset diabetes of the young type 3. ( 27142837 )
2016
5
A suppressor locus for MODY3-diabetes. ( 27667715 )
2016
6
Erratum: A suppressor locus for MODY3-diabetes. ( 27767025 )
2016
7
A novel nonsense mutation of the HNF1I+ in maturity-onset diabetes of the young type 3 in Asian population. ( 26050565 )
2015
8
Hepatocyte nuclear factor 1I+-inactivated hepatocellular adenomatosis in a patient with maturity-onset diabetes of the young type 3: case report and literature review. ( 26346360 )
2015
9
A 12q24.31 interstitial deletion in an adult male with MODY3: neuropsychiatric and neuropsychological characteristics. ( 25425063 )
2015
10
Low serum level of high-sensitivity C-reactive protein in a Japanese patient with maturity-onset diabetes of the young type 3 (MODY3). ( 25411618 )
2014
11
A family with a novel termination mutation in hepatic nuclear factor 1I+ in maturity-onset diabetes of the young type 3 which is unresponsive to sulphonylurea therapy. ( 24642958 )
2014
12
Three years of liraglutide treatment offers continuously optimal glycemic control in a pediatric patient with maturity-onset diabetes of the young type 3. ( 25332292 )
2014
13
Arteriovascular calcification leading to diagnosis of maturity-onset diabetes of the young type 3. ( 23582135 )
2013
14
Japanese boy with maturity-onset diabetes of the young type 3 who developed diabetes at 19 months old. ( 23679181 )
2013
15
Primary hepatocellular neoplasms in a MODY3 family with a novel HNF1A germline mutation. ( 23707370 )
2013
16
Primary pancreatic lymphoma in a patient with maturity onset diabetes of the young type 3. ( 22348187 )
2012
17
Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3). ( 22672869 )
2012
18
New HNF-1I+ nonsense mutation causes maturity-onset diabetes of the young type 3. ( 21437455 )
2011
19
Importance of clinical variables in the diagnosis of MODY2 and MODY3. ( 21737366 )
2011
20
Hnf1α (MODY3) regulates β-cell-enriched MafA transcription factor expression. ( 21193557 )
2011
21
Clinical application of best practice guidelines for the genetic diagnosis of MODY2 and MODY3. ( 20950394 )
2010
22
An investigation of serum concentration of apoM as a potential MODY3 marker using a novel ELISA. ( 19754856 )
2010
23
PSMD9 is linked to MODY3. ( 20069546 )
2010
24
A case of new mutation in maturity-onset diabetes of the young type 3 (MODY 3) responsive to a low dose of sulphonylurea. ( 18433912 )
2008
25
[Diabetic ketoacidosis with a fatal issue: is it a MODY3 (maturity-onset diabetes of the young type 3)?]. ( 18390429 )
2008
26
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. ( 17989309 )
2008
27
Expression of HNF-4alpha (MODY1), HNF-1beta (MODY5), and HNF-1alpha (MODY3) proteins in the developing mouse pancreas. ( 17996499 )
2008
28
Adolescents at risk for MODY3 diabetes prefer genetic testing before adulthood. ( 17351287 )
2007
29
Improved prandial glucose control with lower risk of hypoglycemia with nateglinide than with glibenclamide in patients with maturity-onset diabetes of the young type 3. ( 16443858 )
2006
30
Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24. ( 14988275 )
2004
31
Decreased glibenclamide uptake in hepatocytes of hepatocyte nuclear factor-1alpha-deficient mice: a mechanism for hypersensitivity to sulfonylurea therapy in patients with maturity-onset diabetes of the young, type 3 (MODY3). ( 12475773 )
2002
32
Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis. ( 12147154 )
2002
33
Expression profile of MODY3/HNF-1alpha protein in the developing mouse pancreas. ( 12189445 )
2002
34
A novel mutation in the hepatocyte nuclear factor-1alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan. ( 10872540 )
2000
35
Nature or nurture: an insightful illustration from a Chinese family with hepatocyte nuclear factor-1 alpha diabetes (MODY3) ( 10907130 )
2000
36
A simple test for the high-frequency P291fsinsC mutation in the HNF1 alpha/MODY3 gene. ( 10907131 )
2000
37
A case of hepatocyte nuclear factor-1 alpha diabetes/MODY3 masquerading as type 1 diabetes in a Mexican-American adolescent and responsive to a low dose of sulfonylurea. ( 10332709 )
1999
38
Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations. ( 10585442 )
1999
39
Chronic diabetic complications in patients with MODY3 diabetes. ( 9562352 )
1998
40
Mutations in the hepatocyte nuclear factor-1 alpha gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese. ( 9621514 )
1998
41
Hyperexcitability to sulphonylurea in MODY3. ( 9628283 )
1998
42
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. ( 8866553 )
1996
43
Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q. ( 8875082 )
1996
44
Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM. ( 7556965 )
1995
45
Localization of MODY3 to a 5-cM region of human chromosome 12. ( 7589847 )
1995

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

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

75 (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

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

6 (show top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF1A NM_000545.6(HNF1A): c.872dupC (p.Gly292Argfs) duplication Pathogenic rs587776825 GRCh37 Chromosome 12, 121432125: 121432125
2 HNF1A NM_000545.6(HNF1A): c.872dupC (p.Gly292Argfs) duplication Pathogenic rs587776825 GRCh38 Chromosome 12, 120994322: 120994322
3 HNF1A NM_000545.6(HNF1A): c.1340C> T (p.Pro447Leu) single nucleotide variant Pathogenic rs137853236 GRCh37 Chromosome 12, 121435307: 121435307
4 HNF1A NM_000545.6(HNF1A): c.1340C> T (p.Pro447Leu) single nucleotide variant Pathogenic rs137853236 GRCh38 Chromosome 12, 120997504: 120997504
5 HNF1A HNF1A, 1-BP DEL deletion Pathogenic
6 HNF1A NM_000545.6(HNF1A): c.365A> G (p.Tyr122Cys) single nucleotide variant Pathogenic rs137853237 GRCh37 Chromosome 12, 121426674: 121426674
7 HNF1A NM_000545.6(HNF1A): c.365A> G (p.Tyr122Cys) single nucleotide variant Pathogenic rs137853237 GRCh38 Chromosome 12, 120988871: 120988871
8 HNF1A NM_000545.6(HNF1A): c.1747C> G (p.Arg583Gly) single nucleotide variant Pathogenic rs137853239 GRCh37 Chromosome 12, 121437409: 121437409
9 HNF1A NM_000545.6(HNF1A): c.1747C> G (p.Arg583Gly) single nucleotide variant Pathogenic rs137853239 GRCh38 Chromosome 12, 120999606: 120999606
10 HNF1A HNF1A, A-C, -58, PROMOTER single nucleotide variant Pathogenic
11 HNF1A NM_000545.6(HNF1A): c.1859C> T (p.Thr620Ile) single nucleotide variant Pathogenic rs137853241 GRCh37 Chromosome 12, 121438958: 121438958
12 HNF1A NM_000545.6(HNF1A): c.1859C> T (p.Thr620Ile) single nucleotide variant Pathogenic rs137853241 GRCh38 Chromosome 12, 121001155: 121001155
13 HNF1A HNF1A, 1-BP DEL, -119G, PROMOTER deletion Pathogenic
14 HNF1A NM_000545.6(HNF1A): c.1720G> A (p.Gly574Ser) single nucleotide variant Benign rs1169305 GRCh37 Chromosome 12, 121437382: 121437382
15 HNF1A NM_000545.6(HNF1A): c.1720G> A (p.Gly574Ser) single nucleotide variant Benign rs1169305 GRCh38 Chromosome 12, 120999579: 120999579
16 HNF1A NM_000545.6(HNF1A): c.1748G> A (p.Arg583Gln) single nucleotide variant Uncertain significance rs137853242 GRCh37 Chromosome 12, 121437410: 121437410
17 HNF1A NM_000545.6(HNF1A): c.1748G> A (p.Arg583Gln) single nucleotide variant Uncertain significance rs137853242 GRCh38 Chromosome 12, 120999607: 120999607
18 HNF1A HNF1A, IVS3, G-A, -1 single nucleotide variant Pathogenic
19 HNF1A NM_000545.6(HNF1A): c.335C> T (p.Pro112Leu) single nucleotide variant Pathogenic rs137853243 GRCh37 Chromosome 12, 121426644: 121426644
20 HNF1A NM_000545.6(HNF1A): c.335C> T (p.Pro112Leu) single nucleotide variant Pathogenic rs137853243 GRCh38 Chromosome 12, 120988841: 120988841
21 HNF1A NM_000545.6(HNF1A): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic rs137853244 GRCh37 Chromosome 12, 121426700: 121426700
22 HNF1A NM_000545.6(HNF1A): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic rs137853244 GRCh38 Chromosome 12, 120988897: 120988897
23 HNF1A HNF1A, 4-BP DEL deletion Pathogenic
24 HNF1A NM_000545.6(HNF1A): c.827C> A (p.Ala276Asp) single nucleotide variant Likely pathogenic rs137853245 GRCh37 Chromosome 12, 121432080: 121432080
25 HNF1A NM_000545.6(HNF1A): c.827C> A (p.Ala276Asp) single nucleotide variant Likely pathogenic rs137853245 GRCh38 Chromosome 12, 120994277: 120994277
26 HNF1A HNF1A, 2-BP DEL, AG deletion Pathogenic
27 HNF1A NM_000545.6(HNF1A): c.1592G> C (p.Ser531Thr) single nucleotide variant Pathogenic rs137853246 GRCh37 Chromosome 12, 121437161: 121437161
28 HNF1A NM_000545.6(HNF1A): c.1592G> C (p.Ser531Thr) single nucleotide variant Pathogenic rs137853246 GRCh38 Chromosome 12, 120999358: 120999358
29 HNF1A NM_000545.6(HNF1A): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs137853247 GRCh37 Chromosome 12, 121416663: 121416663
30 HNF1A NM_000545.6(HNF1A): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs137853247 GRCh38 Chromosome 12, 120978860: 120978860
31 HNF1A NM_000545.6(HNF1A): c.666_668delGAA (p.Lys222del) deletion Likely pathogenic rs193922599 GRCh38 Chromosome 12, 120993659: 120993661
32 HNF1A NM_000545.6(HNF1A): c.1107+9C> G single nucleotide variant Likely benign rs17847497 GRCh37 Chromosome 12, 121434225: 121434225
33 HNF1A NM_000545.6(HNF1A): c.1107+9C> G single nucleotide variant Likely benign rs17847497 GRCh38 Chromosome 12, 120996422: 120996422
34 HNF1A NM_000545.6(HNF1A): c.1129delC (p.Leu377Serfs) deletion Likely pathogenic rs193922576 GRCh37 Chromosome 12, 121434365: 121434365
35 HNF1A NM_000545.6(HNF1A): c.1129delC (p.Leu377Serfs) deletion Likely pathogenic rs193922576 GRCh38 Chromosome 12, 120996562: 120996562
36 HNF1A NM_000545.6(HNF1A): c.1265T> C (p.Leu422Pro) single nucleotide variant Likely pathogenic rs193922577 GRCh37 Chromosome 12, 121434501: 121434501
37 HNF1A NM_000545.6(HNF1A): c.1265T> C (p.Leu422Pro) single nucleotide variant Likely pathogenic rs193922577 GRCh38 Chromosome 12, 120996698: 120996698
38 HNF1A NM_000545.6(HNF1A): c.130delC (p.Leu44Trpfs) deletion Pathogenic rs193922578 GRCh37 Chromosome 12, 121416701: 121416701
39 HNF1A NM_000545.6(HNF1A): c.130delC (p.Leu44Trpfs) deletion Pathogenic rs193922578 GRCh38 Chromosome 12, 120978898: 120978898
40 HNF1A NM_000545.6(HNF1A): c.1310-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922579 GRCh37 Chromosome 12, 121435265: 121435265
41 HNF1A NM_000545.6(HNF1A): c.1310-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs193922579 GRCh38 Chromosome 12, 120997462: 120997462
42 HNF1A NM_000545.6(HNF1A): c.1323G> A (p.Thr441=) single nucleotide variant Likely benign rs138996307 GRCh37 Chromosome 12, 121435290: 121435290
43 HNF1A NM_000545.6(HNF1A): c.1323G> A (p.Thr441=) single nucleotide variant Likely benign rs138996307 GRCh38 Chromosome 12, 120997487: 120997487
44 HNF1A NM_000545.6(HNF1A): c.1424C> T (p.Pro475Leu) single nucleotide variant Likely pathogenic rs193922580 GRCh37 Chromosome 12, 121435391: 121435391
45 HNF1A NM_000545.6(HNF1A): c.1424C> T (p.Pro475Leu) single nucleotide variant Likely pathogenic rs193922580 GRCh38 Chromosome 12, 120997588: 120997588
46 HNF1A NM_000545.6(HNF1A): c.1502-7C> T single nucleotide variant Uncertain significance rs193922581 GRCh37 Chromosome 12, 121437064: 121437064
47 HNF1A NM_000545.6(HNF1A): c.1502-7C> T single nucleotide variant Uncertain significance rs193922581 GRCh38 Chromosome 12, 120999261: 120999261
48 HNF1A NM_000545.6(HNF1A): c.1506_1507dupCT (p.Tyr503Serfs) duplication Likely pathogenic rs193922582 GRCh37 Chromosome 12, 121437075: 121437076
49 HNF1A NM_000545.6(HNF1A): c.1506_1507dupCT (p.Tyr503Serfs) duplication Likely pathogenic rs193922582 GRCh38 Chromosome 12, 120999272: 120999273
50 HNF1A NM_000545.6(HNF1A): c.150C> T (p.Cys50=) single nucleotide variant Likely benign rs193922583 GRCh37 Chromosome 12, 121416721: 121416721

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

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

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

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 GCK HNF1A HNF1B HNF4A INS NEUROD1
2 12.26 HNF1A HNF4A INS NEUROD1 PDX1
3
Show member pathways
12.1 HNF1A HNF1B HNF4A
4 12.03 HNF1A HNF1B HNF4A
5 11.83 HNF1B INS NEUROD1 PDX1
6
Show member pathways
11.79 GCK HNF1A HNF1B HNF4A INS NEUROD1
7
Show member pathways
11.6 HNF1A HNF1B HNF4A
8
Show member pathways
11.5 GCK HNF1A HNF1B HNF4A INS NEUROD1
9 11.32 GCK HNF4A
10 11.3 GCK HNF1A HNF4A INS PDX1
11
Show member pathways
11.15 GCK HNF1A HNF1B HNF4A INS NEUROD1
12 10.34 HNF1A HNF4A

GO Terms for Maturity-Onset Diabetes of the Young, Type 3

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 nucleus GO:0005634 9.56 GCK HNF1A HNF1B HNF4A NEUROD1 PCBD1
2 nucleoplasm GO:0005654 9.17 GCK HNF1B HNF4A NEUROD1 PCBD1 PDX1

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 9.97 HNF1A HNF1B HNF4A NEUROD1 PDX1
2 transcription by RNA polymerase II GO:0006366 9.9 HNF1A HNF4A NEUROD1 PDX1
3 liver development GO:0001889 9.69 HNF1A HNF1B PDX1
4 glucose metabolic process GO:0006006 9.65 GCK INS PDX1
5 SMAD protein signal transduction GO:0060395 9.63 HNF1A HNF4A
6 positive regulation of cell differentiation GO:0045597 9.62 INS NEUROD1
7 positive regulation of insulin secretion GO:0032024 9.62 GCK PSMD9
8 response to glucose GO:0009749 9.62 HNF1A HNF1B HNF4A NEUROD1
9 regulation of Wnt signaling pathway GO:0030111 9.61 HNF1A HNF1B
10 hindbrain development GO:0030902 9.59 HNF1B NEUROD1
11 signal transduction involved in regulation of gene expression GO:0023019 9.58 HNF4A NEUROD1
12 pancreas development GO:0031016 9.58 HNF1A HNF1B PDX1
13 nitric oxide mediated signal transduction GO:0007263 9.57 NEUROD1 PDX1
14 positive regulation of glycogen biosynthetic process GO:0045725 9.56 GCK INS
15 regulation of insulin secretion GO:0050796 9.56 GCK HNF1A HNF4A NEUROD1
16 negative regulation of gluconeogenesis GO:0045721 9.55 GCK INS
17 hepatocyte differentiation GO:0070365 9.54 HNF1B HNF4A
18 endocrine pancreas development GO:0031018 9.54 HNF1A NEUROD1 PDX1
19 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.52 HNF1A HNF1B
20 positive regulation of transcription, DNA-templated GO:0045893 9.5 HNF1A HNF1B HNF4A NEUROD1 PCBD1 PDX1
21 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.49 NEUROD1 PDX1
22 detection of glucose GO:0051594 9.46 GCK PDX1
23 insulin secretion GO:0030073 9.46 HNF1A HNF1B NEUROD1 PDX1
24 regulation of pronephros size GO:0035565 9.43 HNF1A HNF1B
25 glucose homeostasis GO:0042593 9.1 GCK HNF1A HNF4A INS NEUROD1 PDX1
26 regulation of transcription, DNA-templated GO:0006355 10.01 HNF1A HNF4A INS NEUROD1 PDX1

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 9.65 HNF1A HNF1B HNF4A NEUROD1 PDX1
2 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.58 HNF1A HNF4A NEUROD1
3 transcription coactivator activity GO:0003713 9.54 NEUROD1 PCBD1 PSMD9
4 DNA-binding transcription factor activity GO:0003700 9.35 HNF1A HNF1B HNF4A NEUROD1 PDX1
5 transcription regulatory region DNA binding GO:0044212 9.33 HNF1A HNF1B HNF4A
6 RNA polymerase II activating transcription factor binding GO:0001102 9.32 HNF4A NEUROD1
7 sequence-specific DNA binding GO:0043565 9.02 HNF1A HNF1B HNF4A NEUROD1 PDX1

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

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
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