MODY2
MCID: MTR019
MIFTS: 46

Maturity-Onset Diabetes of the Young, Type 2 (MODY2) malady

Summaries for Maturity-Onset Diabetes of the Young, Type 2

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46OMIM, 32MalaCards
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MalaCards: Maturity-Onset Diabetes of the Young, Type 2, also known as type 2 maturity-onset diabetes of the young, is related to maturity-onset diabetes of the young and type 2 diabetes mellitus. An important gene associated with Maturity-Onset Diabetes of the Young, Type 2 is GCK (glucokinase (hexokinase 4)), and among its related pathways are Signal transduction Activin A signaling regulation and PKA activation in glucagon signalling. The drugs insulin and insulin, aspart, human and the compounds manganese and magnesium have been mentioned in the context of this disorder. Affiliated tissues include testes.

Description from OMIM:46 125851

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 2

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

maturity-onset diabetes of the young, type 2 42 60
type 2 maturity-onset diabetes of the young 42 20 22
diabetes mellitus, non-insulin-dependent 60
diabetes mellitus mody type 2 42
mody glucokinase-related 42
mody, type ii 46
mody type 2 42
mody2 42


Related Diseases for Maturity-Onset Diabetes of the Young, Type 2

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Maturity-Onset Diabetes of the Young, Type 2:



Diseases related to maturity-onset diabetes of the young, type 2

Clinical Features for Maturity-Onset Diabetes of the Young, Type 2

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46OMIM
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Clinical features from OMIM:

125851

Clinical synopsis from OMIM:

125851

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Maturity-Onset Diabetes of the Young, Type 2

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20GeneTests, 22GTR
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Genetic tests related to Maturity-Onset Diabetes of the Young, Type 2:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 220 GCK
2 Maturity-Onset Diabetes of the Young, Type 222

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 2

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32MalaCards
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MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 2:

32
Testes

Animal Models for Maturity-Onset Diabetes of the Young, Type 2 or affiliated genes

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Publications for Maturity-Onset Diabetes of the Young, Type 2

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Genetic Variations for Maturity-Onset Diabetes of the Young, Type 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Maturity-Onset Diabetes of the Young, Type 2:

62 (show all 42)
id Symbol AA change Variation ID SNP ID
1GCKp.Glu70LysVAR_003693
2GCKp.Gly80AlaVAR_003694
3GCKp.Gly80SerVAR_003695
4GCKp.Ser131ProVAR_003697
5GCKp.Gly175ArgVAR_003698
6GCKp.Val182MetVAR_003699
7GCKp.Ala188ThrVAR_003700
8GCKp.Val203AlaVAR_003701
9GCKp.Glu221LysVAR_003702
10GCKp.Val226MetVAR_003703
11GCKp.Gly227CysVAR_003704
12GCKp.Thr228MetVAR_003705
13GCKp.Glu256LysVAR_003706
14GCKp.Trp257ArgVAR_003707
15GCKp.Gly261ArgVAR_003708
16GCKp.Glu279GlnVAR_003709rs104894005
17GCKp.Gly299ArgVAR_003710
18GCKp.Glu300GlnVAR_003711
19GCKp.Glu300LysVAR_003712
20GCKp.Leu309ProVAR_003713
21GCKp.Lys414GluVAR_003714
22GCKp.Arg36TrpVAR_010584
23GCKp.Ala53SerVAR_010585
24GCKp.Tyr108HisVAR_010586
25GCKp.His137ArgVAR_010587
26GCKp.Phe150SerVAR_010588
27GCKp.Thr168ProVAR_010589
28GCKp.Thr209MetVAR_010590
29GCKp.Met210ThrVAR_010591
30GCKp.Cys213ArgVAR_010592
31GCKp.Ala259ThrVAR_010593
32GCKp.Gly261GluVAR_010594
33GCKp.Ser336LeuVAR_010595
34GCKp.Val367MetVAR_010596
35GCKp.Cys382TyrVAR_010597
36GCKp.Ala384ThrVAR_010598
37GCKp.Arg392CysVAR_010599
38GCKp.Leu164ProVAR_012350
39GCKp.Met210LysVAR_012351
40GCKp.Ile110ThrVAR_012352
41GCKp.Ala119AspVAR_012353
42GCKp.Gly385ValVAR_012354

Expression for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

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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 2

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 2.

Pathways for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

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12EMD Millipore, 53Reactome, 55SinoBiological, 29KEGG
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Compounds for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1manganese44 2410.1ACVR2A, ACVR2B
2magnesium44 11 2410.6ACVR2A, ACVR2B, GCK
3threonine448.6ACVR2A, ACVR2B, GCK
4adp44 28 2410.5GCK, ACVR2B, ACVR2A
5Adenosine triphosphate11 249.4ACVR2A, ACVR2B, GCK
6serine448.2ACVR2A, ACVR2B, GCK

GO Terms for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

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16Gene Ontology
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Cellular components related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.1ACVR2A, ACVR2B

Biological processes related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of activin receptor signaling pathwayGO:0329279.3ACVR2A, ACVR2B
2transmembrane receptor protein serine/threonine kinase signaling pathwayGO:0071789.3ACVR2A, ACVR2B
3gastrulation with mouth forming secondGO:0017029.3ACVR2A, ACVR2B
4positive regulation of bone mineralizationGO:0305019.2ACVR2B, ACVR2A
5mesoderm developmentGO:0074989.2ACVR2B, ACVR2A
6determination of left/right symmetryGO:0073689.1ACVR2A, ACVR2B
7anterior/posterior pattern specificationGO:0099529.1ACVR2A, ACVR2B
8positive regulation of osteoblast differentiationGO:0456699.0ACVR2B, ACVR2A
9BMP signaling pathwayGO:0305098.8ACVR2A, ACVR2B

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1inhibin bindingGO:0347119.2ACVR2A, ACVR2B
2receptor signaling protein serine/threonine kinase activityGO:0047029.2ACVR2A, ACVR2B
3activin bindingGO:0481859.1ACVR2A, ACVR2B
4transforming growth factor beta-activated receptor activityGO:0050249.0ACVR2B, ACVR2A
5growth factor bindingGO:0198388.8ACVR2A, ACVR2B
6ATP bindingGO:0055248.5ACVR2A, ACVR2B, GCK

Products for genes affiliated with Maturity-Onset Diabetes of the Young, Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Maturity-Onset Diabetes of the Young, Type 2

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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