MCID: MTR020
MIFTS: 41

Maturity-Onset Diabetes of the Young, Type 3

Categories: Genetic diseases, Rare diseases, Liver diseases, Endocrine diseases, Neuronal 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
Mody, Type Iii 57 13
Mody Hepatocyte Nuclear Factor-1-Alpha Related 53
Diabetes of the Young, Maturity-Onset, Type 3 40
Maturity-Onset Diabetes of the Young Type 3 12
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:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


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 maturity-onset diabetes of the young and pancreatitis. 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 Glucose / Energy Metabolism and Adipogenesis. The drugs Glimepiride and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are hyperglycemia and maturity-onset diabetes of the young

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

Description from OMIM: 600496

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

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

Lab:
hyperglycemia
severe insulin secretory defect

Misc:
early age of onset (under 25 years)


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 hyperglycemia 32 HP:0003074
2 maturity-onset diabetes of the young 32 HP:0004904
3 type ii diabetes mellitus 32 HP:0005978

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 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glimepiride Approved Phase 2, Phase 3,Not Applicable 93479-97-1 3476
2
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
3 Anti-Arrhythmia Agents Phase 2, Phase 3,Not Applicable
4 Glucagon-Like Peptide 1 Phase 2, Phase 3,Not Applicable
5 Hormone Antagonists Phase 2, Phase 3,Not Applicable
6 Hormones Phase 2, Phase 3,Not Applicable
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Not Applicable
8 Hypoglycemic Agents Phase 2, Phase 3,Not Applicable
9 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
10 Incretins Phase 2, Phase 3,Not Applicable
11
Gliclazide Approved Not Applicable 21187-98-4 3475
12 Dipeptidyl-Peptidase IV Inhibitors
13 gastric inhibitory polypeptide ,Not Applicable
14 Gastrointestinal Agents ,Not Applicable
15 HIV Protease Inhibitors
16
protease inhibitors
17 Sitagliptin Phosphate
18 Antibodies
19 Immunoglobulins
20 insulin ,Not Applicable
21 Insulin, Globin Zinc ,Not Applicable
22 glucagon Not Applicable
23 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 Pathophysiological Implications of the Incretin Hormones in Maturity Onset of Diabetes of the Young (MODY) Completed NCT01342939
3 Predisposition Genes in Monogenic Diabetes (DIAMONO) Completed NCT02634229
4 The Effect of GIP and GLP-1 on Insulin and Glucagon Secretion in Patients With HNF1A-diabetes Treated With or Without Sulphonylurea Recruiting NCT03081676 Not Applicable Glimepiride 1Mg Tablet;Glucagon-like Peptide-1;Glucose-Dependent Insulinotropic Polypeptide;Placebo Oral Tablet;Placebo infusion
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

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

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

(show all 18)
# 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
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
4
A novel nonsense mutation of the HNF1I+ in maturity-onset diabetes of the young type 3 in Asian population. ( 26050565 )
2015
5
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
6
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
7
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
8
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
9
Arteriovascular calcification leading to diagnosis of maturity-onset diabetes of the young type 3. ( 23582135 )
2013
10
Japanese boy with maturity-onset diabetes of the young type 3 who developed diabetes at 19 months old. ( 23679181 )
2013
11
Primary pancreatic lymphoma in a patient with maturity onset diabetes of the young type 3. ( 22348187 )
2012
12
Early onset of liver steatosis in a Japanese girl with maturity-onset diabetes of the young type 3 (MODY3). ( 22672869 )
2012
13
New HNF-1I+ nonsense mutation causes maturity-onset diabetes of the young type 3. ( 21437455 )
2011
14
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
15
[Diabetic ketoacidosis with a fatal issue: is it a MODY3 (maturity-onset diabetes of the young type 3)?]. ( 18390429 )
2008
16
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3. ( 17989309 )
2008
17
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
18
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

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 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF1A HNF1A, 1-BP DEL deletion Pathogenic
2 HNF1A NM_000545.6(HNF1A): c.872dupC (p.Gly292Argfs) duplication Pathogenic rs587776825 GRCh37 Chromosome 12, 121432125: 121432125
3 HNF1A NM_000545.6(HNF1A): c.872dupC (p.Gly292Argfs) duplication Pathogenic rs587776825 GRCh38 Chromosome 12, 120994322: 120994322
4 HNF1A NM_000545.6(HNF1A): c.1340C> T (p.Pro447Leu) single nucleotide variant Pathogenic rs137853236 GRCh37 Chromosome 12, 121435307: 121435307
5 HNF1A NM_000545.6(HNF1A): c.1340C> T (p.Pro447Leu) single nucleotide variant Pathogenic rs137853236 GRCh38 Chromosome 12, 120997504: 120997504
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 HNF1A, IVS3, G-A, -1 single nucleotide variant Pathogenic
15 HNF1A NM_000545.6(HNF1A): c.335C> T (p.Pro112Leu) single nucleotide variant Pathogenic rs137853243 GRCh37 Chromosome 12, 121426644: 121426644
16 HNF1A NM_000545.6(HNF1A): c.335C> T (p.Pro112Leu) single nucleotide variant Pathogenic rs137853243 GRCh38 Chromosome 12, 120988841: 120988841
17 HNF1A NM_000545.6(HNF1A): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic rs137853244 GRCh37 Chromosome 12, 121426700: 121426700
18 HNF1A NM_000545.6(HNF1A): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic rs137853244 GRCh38 Chromosome 12, 120988897: 120988897
19 HNF1A HNF1A, 4-BP DEL deletion Pathogenic
20 HNF1A NM_000545.6(HNF1A): c.827C> A (p.Ala276Asp) single nucleotide variant Likely pathogenic rs137853245 GRCh37 Chromosome 12, 121432080: 121432080
21 HNF1A NM_000545.6(HNF1A): c.827C> A (p.Ala276Asp) single nucleotide variant Likely pathogenic rs137853245 GRCh38 Chromosome 12, 120994277: 120994277
22 HNF1A HNF1A, 2-BP DEL, AG deletion Pathogenic
23 HNF1A NM_000545.6(HNF1A): c.1592G> C (p.Ser531Thr) single nucleotide variant Pathogenic rs137853246 GRCh37 Chromosome 12, 121437161: 121437161
24 HNF1A NM_000545.6(HNF1A): c.1592G> C (p.Ser531Thr) single nucleotide variant Pathogenic rs137853246 GRCh38 Chromosome 12, 120999358: 120999358
25 HNF1A NM_000545.6(HNF1A): c.169delC (p.Leu57Trpfs) deletion Likely pathogenic rs193922588 GRCh38 Chromosome 12, 120978937: 120978937
26 HNF1A NM_000545.6(HNF1A): c.1129delC (p.Leu377Serfs) deletion Likely pathogenic rs193922576 GRCh37 Chromosome 12, 121434365: 121434365
27 HNF1A NM_000545.6(HNF1A): c.1129delC (p.Leu377Serfs) deletion Likely pathogenic rs193922576 GRCh38 Chromosome 12, 120996562: 120996562
28 HNF1A NM_000545.6(HNF1A): c.1265T> C (p.Leu422Pro) single nucleotide variant Likely pathogenic rs193922577 GRCh37 Chromosome 12, 121434501: 121434501
29 HNF1A NM_000545.6(HNF1A): c.1265T> C (p.Leu422Pro) single nucleotide variant Likely pathogenic rs193922577 GRCh38 Chromosome 12, 120996698: 120996698
30 HNF1A NM_000545.6(HNF1A): c.130delC (p.Leu44Trpfs) deletion Pathogenic rs193922578 GRCh37 Chromosome 12, 121416701: 121416701
31 HNF1A NM_000545.6(HNF1A): c.130delC (p.Leu44Trpfs) deletion Pathogenic rs193922578 GRCh38 Chromosome 12, 120978898: 120978898
32 HNF1A NM_000545.6(HNF1A): c.169delC (p.Leu57Trpfs) deletion Likely pathogenic rs193922588 GRCh37 Chromosome 12, 121416740: 121416740
33 HNF1A NM_000545.6(HNF1A): c.1424C> T (p.Pro475Leu) single nucleotide variant Likely pathogenic rs193922580 GRCh37 Chromosome 12, 121435391: 121435391
34 HNF1A NM_000545.6(HNF1A): c.1424C> T (p.Pro475Leu) single nucleotide variant Likely pathogenic rs193922580 GRCh38 Chromosome 12, 120997588: 120997588
35 HNF1A NM_000545.6(HNF1A): c.1506_1507dupCT (p.Tyr503Serfs) duplication Likely pathogenic rs193922582 GRCh37 Chromosome 12, 121437075: 121437076
36 HNF1A NM_000545.6(HNF1A): c.1506_1507dupCT (p.Tyr503Serfs) duplication Likely pathogenic rs193922582 GRCh38 Chromosome 12, 120999272: 120999273
37 HNF1A NM_000545.6(HNF1A): c.1663C> T (p.Leu555Phe) single nucleotide variant Likely pathogenic rs193922587 GRCh37 Chromosome 12, 121437325: 121437325
38 HNF1A NM_000545.6(HNF1A): c.1663C> T (p.Leu555Phe) single nucleotide variant Likely pathogenic rs193922587 GRCh38 Chromosome 12, 120999522: 120999522
39 HNF1A NM_000545.6(HNF1A): c.1745A> G (p.His582Arg) single nucleotide variant Likely pathogenic rs193922589 GRCh37 Chromosome 12, 121437407: 121437407
40 HNF1A NM_000545.6(HNF1A): c.1745A> G (p.His582Arg) single nucleotide variant Likely pathogenic rs193922589 GRCh38 Chromosome 12, 120999604: 120999604
41 HNF1A NM_000545.6(HNF1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs193922592 GRCh37 Chromosome 12, 121416572: 121416572
42 HNF1A NM_000545.6(HNF1A): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs193922592 GRCh38 Chromosome 12, 120978769: 120978769
43 HNF1A NM_000545.6(HNF1A): c.281C> T (p.Pro94Leu) single nucleotide variant Likely pathogenic rs193922593 GRCh37 Chromosome 12, 121416852: 121416852
44 HNF1A NM_000545.6(HNF1A): c.281C> T (p.Pro94Leu) single nucleotide variant Likely pathogenic rs193922593 GRCh38 Chromosome 12, 120979049: 120979049
45 HNF1A NM_000545.6(HNF1A): c.313dupG (p.Glu105Glyfs) duplication Likely pathogenic rs193922594 GRCh37 Chromosome 12, 121416884: 121416884
46 HNF1A NM_000545.6(HNF1A): c.313dupG (p.Glu105Glyfs) duplication Likely pathogenic rs193922594 GRCh38 Chromosome 12, 120979081: 120979081
47 HNF1A NM_000545.6(HNF1A): c.375_377dupGCA (p.Gln125_His126insGln) duplication Likely pathogenic rs193922596 GRCh37 Chromosome 12, 121426684: 121426686
48 HNF1A NM_000545.6(HNF1A): c.375_377dupGCA (p.Gln125_His126insGln) duplication Likely pathogenic rs193922596 GRCh38 Chromosome 12, 120988881: 120988883
49 HNF1A NM_000545.6(HNF1A): c.441C> A (p.His147Gln) single nucleotide variant Likely pathogenic rs193922597 GRCh37 Chromosome 12, 121426750: 121426750
50 HNF1A NM_000545.6(HNF1A): c.441C> A (p.His147Gln) single nucleotide variant Likely pathogenic rs193922597 GRCh38 Chromosome 12, 120988947: 120988947

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

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

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

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 8.96 HNF1A INS
2 response to glucose GO:0009749 8.62 HNF1A INS

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

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17 ExPASy
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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