MODY3
MCID: MTR020
MIFTS: 31

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

Liver category

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

Sources:
47OMIM, 33MalaCards
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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 diabetic ketoacidosis and type 1 diabetes. 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:47 600496

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

Sources:
43NIH Rare Diseases, 61UMLS, 20GeneTests, 22GTR, 47OMIM
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Classifications:

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


Aliases & Descriptions:

maturity-onset diabetes of the young, type 3 43 61
type 3 maturity-onset diabetes of the young 43 20 22
mody hepatocyte nuclear factor-1-alpha related 43
diabetes mellitus mody type 3 43
mody, type iii 47
mody type 3 43
mody3 43


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

Sources:
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
1diabetic ketoacidosis30.6INS
2type 1 diabetes30.5INS, HNF4A, HNF1A
3hypoglycemia10.4
4adenoma10.0
5hepatocellular adenoma10.0
6hyperinsulinemic hypoglycemia10.0INS
7coronary heart disease10.0INS
8glycogen storage disease10.0HNF1A
9glucose intolerance10.0INS
10galactosemia10.0INS
11exocrine pancreatic insufficiency10.0CELA3B, CEL
12familial hyperlipidemia10.0CEL, INS
13hepatoblastoma10.0HNF1A, HNF4A
14cystic fibrosis10.0INS, CELA3B
15fatty liver disease10.0HNF4A, INS
16pancreatitis10.0CEL, CELA3B, INS
17maturity-onset diabetes of the young10.0HNF1A, HNF4A, INS
18insulinoma10.0INS, HNF1A, HNF4A
19gestational diabetes10.0HNF4A, HNF1A, INS
20hyperinsulinism10.0INS, HNF4A
21type 2 diabetes mellitus10.0INS, HNF1A, HNF4A
22diabetes mellitus10.0HNF1A, INS, HNF4A
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

Sources:
47OMIM
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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

Sources:
5CenterWatch, 42NIH 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

Sources:
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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 3:

37
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

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Maturity-Onset Diabetes of the Young, Type 3:

63 (show all 36)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 4Cell Signaling Technology, 50PharmGKB, 54Reactome
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Compounds for genes affiliated with Maturity-Onset Diabetes of the Young, Type 3

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 60Tocris 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
1phosphoenolpyruvate45 1110.5HNF1A, HNF4A
2taurocholate459.5CEL, HNF4A
3sulfonylurea459.5INS, HNF1A
4tolbutamide45 50 29 1112.4HNF1A, INS
5mg 13245 6010.4HNF4A, HNF1A
6orlistat45 60 1111.4CEL, INS
7linoleic acid45 29 2411.3HNF4A, CEL
8triacylglycerol459.2INS, CEL
9bezafibrate45 29 1111.2INS, HNF4A
10oligonucleotide458.9CEL, HNF4A, HNF1A
11c-peptide458.9HNF4A, HNF1A, INS
12myristic acid45 11 2410.8HNF4A, CEL, INS
13glycerol45 11 2410.8HNF4A, INS, CEL
14palmitate458.7HNF4A, INS
15dexamethasone45 50 29 1111.5HNF1A, INS, HNF4A
16fatty acid458.4HNF1A, INS, CEL, HNF4A
17cholesterol45 29 11 2411.3HNF1A, CEL, HNF4A, INS
18lipid458.3HNF1A, CEL, INS, HNF4A

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

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet