MODY3
MCID: MTR020
MIFTS: 41

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

Liver diseases category

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

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46OMIM, 32MalaCards
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MalaCards: Maturity-Onset Diabetes of the Young, Type 3, also known as type 3 maturity-onset diabetes of the young, 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 are Pancreatic secretion and Dichloroethylene metabolism. The compounds phosphoenolpyruvate and taurocholate have been mentioned in the context of this disorder. Related mouse phenotypes are adipose tissue and liver/biliary system.

Description from OMIM:46 600496

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

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42NIH Rare Diseases, 60UMLS, 20GeneTests, 22GTR, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Liver diseases


Aliases & Descriptions:

maturity-onset diabetes of the young, type 3 42 60
type 3 maturity-onset diabetes of the young 42 20 22
mody hepatocyte nuclear factor-1-alpha related 42
diabetes mellitus mody type 3 42
mody, type iii 46
mody type 3 42
mody3 42


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

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17GeneCards, 18GeneDecks
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Diseases in the Maturity-Onset Diabetes of the Young, Type 1 family:

Maturity-Onset Diabetes of the Young Maturity-Onset Diabetes of the Young, Type 8
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 5 Maturity-Onset Diabetes of the Young, Type 11
Maturity-Onset Diabetes of the Young, Type 10

Diseases related to Maturity-Onset Diabetes of the Young, Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1maturity-onset diabetes of the young31.3HNF1A, HNF4A, INS
2pancreatitis30.8CEL, CELA3B, INS
3diabetic ketoacidosis30.5INS
4diabetes mellitus30.4HNF1A, INS, HNF4A
5type 2 diabetes mellitus29.9INS, HNF1A, HNF4A
6hypoglycemia10.4
7hyperinsulinemic hypoglycemia10.0INS
8coronary heart disease10.0INS
9glycogen storage disease10.0HNF1A
10glucose intolerance10.0INS
11galactosemia10.0INS
12exocrine pancreatic insufficiency10.0CELA3B, CEL
13familial hyperlipidemia10.0CEL, INS
14type 1 diabetes mellitus10.0
15adenoma10.0
16hepatoblastoma10.0HNF1A, HNF4A
17cystic fibrosis10.0INS, CELA3B
18fatty liver disease10.0HNF4A, INS
19insulinoma10.0INS, HNF1A, HNF4A
20gestational diabetes10.0HNF4A, HNF1A, INS
21hyperinsulinism10.0INS, HNF4A
22type 1 diabetes10.0INS, HNF4A, HNF1A
23primary hyperoxaluria10.0INS, HNF4A, HNF1A
24hyperglycemia10.0HNF4A, HNF1A, INS
25atherosclerosis10.0CEL, INS, HNF4A
26adenocarcinoma10.0HNF4A, CEL
27insulin resistance10.0HNF4A, INS, HNF1A
28pancreatic cancer10.0HNF4A, INS, CELA3B, CEL

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

Clinical Features for Maturity-Onset Diabetes of the Young, Type 3

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46OMIM
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Clinical features from OMIM:

600496

Clinical synopsis from OMIM:

600496

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Maturity-Onset Diabetes of the Young, Type 3

Drug clinical trials:

Search ClinicalTrials for Maturity-Onset Diabetes of the Young, Type 3

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

Search CenterWatch for Maturity-Onset Diabetes of the Young, Type 3

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

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20GeneTests, 22GTR
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Genetic tests related to Maturity-Onset Diabetes of the Young, Type 3:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 320 HNF1A
2 Maturity-Onset Diabetes of the Young, Type 322

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

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Animal Models for Maturity-Onset Diabetes of the Young, Type 3 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 3:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7CEL, INS, HNF1A
2MP:00053707.8CEL, INS, HNF4A, HNF1A

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

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Maturity-Onset Diabetes of the Young, Type 3:

62 (show all 36)
id Symbol AA change Variation ID SNP ID
1HNF1Ap.Tyr122CysVAR_003756
2HNF1Ap.Ser142PheVAR_003757
3HNF1Ap.Arg159GlnVAR_003758
4HNF1Ap.Arg272HisVAR_003759
5HNF1Ap.Pro447LeuVAR_003760
6HNF1Ap.Leu12HisVAR_010537
7HNF1Ap.Gly31AspVAR_010538
8HNF1Ap.Leu107ArgVAR_010541
9HNF1Ap.Lys117GluVAR_010542
10HNF1Ap.Ile128AsnVAR_010543
11HNF1Ap.Pro129ThrVAR_010544
12HNF1Ap.Arg131GlnVAR_010545
13HNF1Ap.Arg131TrpVAR_010546
14HNF1Ap.Val133MetVAR_010547
15HNF1Ap.His143TyrVAR_010548
16HNF1Ap.Lys158AsnVAR_010549
17HNF1Ap.Arg159TrpVAR_010550
18HNF1Ap.Ala161ThrVAR_010551
19HNF1Ap.Arg203CysVAR_010554
20HNF1Ap.Lys205GlnVAR_010555
21HNF1Ap.Arg229GlnVAR_010556
22HNF1Ap.Cys241GlyVAR_010557
23HNF1Ap.Val259AspVAR_010559
24HNF1Ap.Thr260MetVAR_010560
25HNF1Ap.Arg263CysVAR_010561
26HNF1Ap.Arg271TrpVAR_010562
27HNF1Ap.Pro519LeuVAR_010567
28HNF1Ap.Thr537ArgVAR_010568
29HNF1Ap.Ser594IleVAR_010571
30HNF1Ap.Glu619LysVAR_010572
31HNF1Ap.Thr620IleVAR_010573
32HNF1Ap.Gly20ArgVAR_012483
33HNF1Ap.Arg203HisVAR_012484
34HNF1Ap.Ser432CysVAR_012485
35HNF1Ap.Ile618MetVAR_012486
36HNF1Ap.Arg200TrpVAR_063069

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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 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 genes affiliated with Maturity-Onset Diabetes of the Young, Type 3

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Sources:
29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 4Cell Signaling Technology, 49PharmGKB, 53Reactome
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Compounds for genes affiliated with Maturity-Onset Diabetes of the Young, Type 3

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44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience, 24HMDB
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Compounds related to Maturity-Onset Diabetes of the Young, Type 3 according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1phosphoenolpyruvate44 1110.5HNF4A, HNF1A
2taurocholate449.5CEL, HNF4A
3sulfonylurea449.5HNF1A, INS
4tolbutamide44 49 28 1112.4INS, HNF1A
5mg 13244 5910.4HNF4A, HNF1A
6orlistat44 59 1111.4CEL, INS
7linoleic acid44 28 2411.3CEL, HNF4A
8triacylglycerol449.2CEL, INS
9bezafibrate44 28 1111.2HNF4A, INS
10oligonucleotide448.9HNF1A, HNF4A, CEL
11c-peptide448.9INS, HNF4A, HNF1A
12myristic acid44 11 2410.8CEL, INS, HNF4A
13glycerol44 11 2410.8CEL, INS, HNF4A
14palmitate448.7INS, HNF4A
15dexamethasone44 49 28 1111.5HNF1A, HNF4A, INS
16fatty acid448.4HNF1A, HNF4A, INS, CEL
17cholesterol44 28 11 2411.3HNF1A, HNF4A, INS, CEL
18lipid448.3HNF1A, HNF4A, INS, CEL

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

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16Gene Ontology
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Biological processes related to Maturity-Onset Diabetes of the Young, Type 3 according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1SMAD protein signal transductionGO:0603959.4HNF4A, HNF1A
2lipid metabolic processGO:0066299.3CEL, HNF4A
3response to glucose stimulusGO:0097499.3HNF4A, HNF1A
4cholesterol metabolic processGO:0082039.2CELA3B, HNF1A
5endocrine pancreas developmentGO:0310188.7INS, HNF4A, HNF1A
6regulation of insulin secretionGO:0507968.7INS, HNF4A, HNF1A
7glucose homeostasisGO:0425938.6HNF1A, HNF4A, INS

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.4HNF4A, HNF1A

Products for genes affiliated with Maturity-Onset Diabetes of the Young, Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet