MCID: DBT047
MIFTS: 35

Diabetes Mellitus, Noninsulin-Dependent, Association with malady

Genetic diseases (common) category

Summaries for Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Diabetes Mellitus, Noninsulin-Dependent, Association with is related to maturity-onset diabetes of the young and hyperinsulinism. An important gene associated with Diabetes Mellitus, Noninsulin-Dependent, Association with is WFS1 (Wolfram syndrome 1 (wolframin)), and among its related pathways are Akt Signaling Pathway and Hepatic ABC Transporters. The compounds 3-o-methylglucose and vanadyl sulfate have been mentioned in the context of this disorder. Related mouse phenotypes are cellular and immune system.

Description from OMIM:48 125853

Aliases & Classifications for Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
Sources:
48OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

diabetes mellitus, noninsulin-dependent, association with 48


Related Diseases for Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases related to Diabetes Mellitus, Noninsulin-Dependent, Association with via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1maturity-onset diabetes of the young10.1HNF1B, HNF4A
2hyperinsulinism10.0IRS1, INSR
3lipodystrophy10.0AKT2, INSR
4developmental disabilities10.0HNF4A, HNF1B
5cholestasis10.0HNF1B, HNF4A
6polycystic ovary syndrome10.0IRS1, INSR
7glucose intolerance10.0INSR, SLC2A4
8insulinoma10.0INSR, WFS1, HNF4A
9hepatoblastoma10.0INSR, HNF4A
10fatty liver disease10.0HNF4A, INSR
11type 1 diabetes mellitus10.0HNF4A, WFS1, INSR
12primary hyperoxaluria10.0HNF4A, HNF1B, INSR
13hypoglycemia10.0INSR, HNF4A, SLC2A4
14galactosemia10.0IRS1, HNF1B, HNF4A
15leiomyoma10.0INSR, IRS1
16hypertriglyceridemia10.0INSR, IRS1, SLC2A4
17liver cirrhosis10.0INSR, IRS1, SLC2A4
18sepsis10.0SLC2A4, IRS1, INSR
19kidney cancer10.0INSR, HNF1B, HNF4A, SLC2A4
20hepatocellular carcinoma10.0INSR, IRS1, HNF1B, HNF4A
21pancreatic cancer10.0SLC2A4, HNF4A, AKT2, IRS1
22ischemia10.0SLC2A4, MAPK8IP1, INSR
23gestational diabetes10.0SLC2A4, HNF4A, IRS1, INSR
24obesity9.9SLC2A4, HNF4A, IRS1, INSR
25ovarian cancer9.9INSR, AKT2, HNF1B, HNF4A, SLC2A4
26adenocarcinoma9.9SLC2A4, HNF4A, HNF1B, AKT2, INSR
27tongue squamous cell carcinoma9.9INSR, IRS1, AKT2, HNF4A, SLC2A4
28hyperglycemia9.9INSR, IRS1, HNF1B, HNF4A, SLC2A4
29colorectal cancer9.9HNF4A, IRS1, INSR, PPP1R3A
30breast cancer9.9INSR, IRS1, AKT2, HNF4A, SLC2A4
31diabetes mellitus, noninsulin-dependent9.9IRS1, MAPK8IP1, HNF1B, HNF4A, SLC2A4
32stomach cancer9.9PPP1R3A, HNF4A, SLC2A4
33prostate cancer9.9INSR, IRS1, AKT2, MAPK8IP1, HNF1B, HNF4A
34diabetes mellitus9.8INSR, IRS1, AKT2, WFS1, HNF1B, HNF4A
35type 2 diabetes mellitus9.8PPP1R3A, INSR, IRS1, HNF1B, HNF4A, SLC2A4
36insulin resistance9.8PPP1R3A, INSR, IRS1, AKT2, HNF1B, HNF4A

Graphical network of the top 20 diseases related to Diabetes Mellitus, Noninsulin-Dependent, Association with:



Diseases related to diabetes mellitus, noninsulin-dependent, association with

Symptoms for Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

125853

Drugs & Therapeutics for Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Diabetes Mellitus, Noninsulin-Dependent, Association with

Drug clinical trials:

Search ClinicalTrials for Diabetes Mellitus, Noninsulin-Dependent, Association with

Search NIH Clinical Center for Diabetes Mellitus, Noninsulin-Dependent, Association with

Search CenterWatch for Diabetes Mellitus, Noninsulin-Dependent, Association with

Genetic Tests for Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section

Anatomical Context for Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section

Animal Models for Diabetes Mellitus, Noninsulin-Dependent, Association with or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Diabetes Mellitus, Noninsulin-Dependent, Association with:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.1HNF4A, MAPK8IP1, AKT2, IRS1, INSR
2MP:00053878.0INSR, IRS1, AKT2, HNF1B, SLC2A4
3MP:00053757.7PPP1R3A, INSR, IRS1, AKT2, SLC2A4
4MP:00053697.5PPP1R3A, INSR, IRS1, AKT2, HNF1B, SLC2A4
5MP:00053797.4INSR, IRS1, AKT2, WFS1, MAPK8IP1, HNF1B
6MP:00053707.4INSR, IRS1, AKT2, MAPK8IP1, HNF1B, HNF4A
7MP:00107686.9INSR, IRS1, AKT2, WFS1, MAPK8IP1, HNF1B
8MP:00053786.3SLC2A4, PPP1R3A, INSR, IRS1, AKT2, WFS1
9MP:00053766.2PPP1R3A, INSR, IRS1, AKT2, WFS1, MAPK8IP1

Publications for Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section

Variations for Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Noninsulin-Dependent, Association with:

65 (show all 11)
id Symbol AA change Variation ID SNP ID
1AKT2p.Arg274HisVAR_067310
2HNF1Bp.Ser465ArgVAR_017665
3HNF4Ap.Val402IleVAR_004670rs137853337
4INSRp.Arg1191GlnVAR_004098
5INSRp.Thr858AlaVAR_015917rs182552223
6INSRp.Arg1158GlnVAR_015927
7IRS1p.Ser1043TyrVAR_005302
8IRS1p.Cys1095TyrVAR_005303
9MAPK8IP1p.Ser59AsnVAR_012243
10PPP1R3Ap.Ala931GluVAR_019699rs35449651
11SLC2A4p.Val383IleVAR_007170rs121434581

Clinvar genetic disease variations for Diabetes Mellitus, Noninsulin-Dependent, Association with:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1HNF1BNM_000458.2(HNF1B): c.1395C> G (p.Ser465Arg)single nucleotide variantPathogenicrs121918673GRCh37Chr 17, 36061127: 36061127
2PAX4NM_006193.2(PAX4): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs114202595GRCh37Chr 7, 127254587: 127254587
3AKT2NM_001626.5(AKT2): c.821G> A (p.Arg274His)single nucleotide variantPathogenicrs121434593GRCh37Chr 19, 40743886: 40743886
4INSRNM_000208.2(INSR): c.3572G> A (p.Arg1191Gln)single nucleotide variantPathogenicrs121913150GRCh37Chr 19, 7120718: 7120718
5INSRNM_000208.2(INSR): c.3034G> A (p.Val1012Met)single nucleotide variantLikely pathogenic, Pathogenicrs1799816GRCh37Chr 19, 7125518: 7125518
6GPD2NM_001083112.2(GPD2): c.1904T> C (p.Phe635Ser)single nucleotide variantPathogenicrs121918407GRCh37Chr 2, 157435621: 157435621
7SLC2A2NM_000340.1(SLC2A2): c.589G> A (p.Val197Ile)single nucleotide variantPathogenicrs121909741GRCh37Chr 3, 170724960: 170724960
8GCGRNM_000160.4(GCGR): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs1801483GRCh37Chr 17, 79767715: 79767715
9IRS1IRS1, 3-BP DEL, GLY723deletionPathogenic
10IRS1NM_005544.2(IRS1): c.1823C> G (p.Thr608Arg)single nucleotide variantPathogenicrs104893642GRCh37Chr 2, 227661632: 227661632
11MAPK8IP1NM_005456.3(MAPK8IP1): c.176G> A (p.Ser59Asn)single nucleotide variantPathogenicrs119489103GRCh37Chr 11, 45919710: 45919710
12NEUROD1NM_002500.4(NEUROD1): c.332G> T (p.Arg111Leu)single nucleotide variantPathogenicrs104893649GRCh37Chr 2, 182543256: 182543256
13ABCC8NM_001287174.1(ABCC8): c.4138C> T (p.Arg1380Cys)single nucleotide variantPathogenicrs137852673GRCh37Chr 11, 17417462: 17417462
14ABCC8NM_001287174.1(ABCC8): c.1744C> G (p.Leu582Val)single nucleotide variantPathogenicrs137852674GRCh37Chr 11, 17452434: 17452434
15HNF4ANM_000457.4(HNF4A): c.1204G> A (p.Val402Ile)single nucleotide variantPathogenicrs137853337GRCh37Chr 20, 43057049: 43057049

Expression for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

Search GEO for disease gene expression data for Diabetes Mellitus, Noninsulin-Dependent, Association with.

Pathways for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
Sources:
51PathCards, 55R&D Systems, 54QIAGEN, 61Thomson Reuters, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 62Tocris Bioscience, 52PharmGKB, 5Cell Signaling Technology
See all sources

Pathways related to Diabetes Mellitus, Noninsulin-Dependent, Association with according to GeneCards/GeneDecks:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7AKT2, INSR
2
Show member pathways
9.6HNF4A, INSR
3
Show member pathways
FAS pathway and Stress induction of HSP regulation39
Apoptosis and survival FAS signaling cascades61
Caspase cascade in apoptosis39
9.6AKT2, IRS1
49.6SLC2A4, AKT2
59.5SLC2A4, HNF4A
69.5IRS1, INSR
79.5INSR, IRS1
89.5INSR, IRS1
9
Show member pathways
9.3AKT2, HNF1B, HNF4A
10
Show member pathways
Insulin Pathway39
9.2AKT2, IRS1, INSR
11
Show member pathways
9.2AKT2, IRS1, INSR
129.2AKT2, IRS1, INSR
13
Show member pathways
9.2AKT2, IRS1, INSR
14
Show member pathways
DNA damage response (only ATM dependent)39
Wnt Signaling Pathway and Pluripotency39
9.2INSR, IRS1, AKT2
159.1SLC2A4, AKT2, IRS1
169.1IRS1, AKT2, SLC2A4
17
Show member pathways
9.1IRS1, AKT2, SLC2A4
18
Show member pathways
8.9AKT2, INSR, PPP1R3A
19
Show member pathways
8.8AKT2, HNF1B, HNF4A, SLC2A4
208.7SLC2A4, HNF4A, AKT2, INSR
21
Show member pathways
8.7IRS1, INSR, PPP1R3A
22
Show member pathways
8.6INSR, IRS1, AKT2, SLC2A4
23
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
8.6SLC2A4, AKT2, IRS1, INSR
24
Show member pathways
8.6INSR, IRS1, AKT2, SLC2A4
25
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
8.6SLC2A4, AKT2, IRS1, INSR
268.3PPP1R3A, INSR, AKT2, SLC2A4
27
Show member pathways
8.2INSR, IRS1, HNF1B, HNF4A, SLC2A4
28
Show member pathways
8.2SLC2A4, IRS1, INSR, PPP1R3A
29
Show member pathways
8.1HNF4A, MAPK8IP1, AKT2, IRS1, INSR
30
Show member pathways
8.0INSR, IRS1, AKT2, MAPK8IP1, SLC2A4
317.9SLC2A4, HNF4A, WFS1, AKT2, IRS1, INSR
32
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
7.8PPP1R3A, INSR, IRS1, AKT2, SLC2A4
337.8PPP1R3A, INSR, IRS1, AKT2, SLC2A4
34
Show member pathways
7.3PPP1R3A, INSR, IRS1, AKT2, MAPK8IP1, HNF4A

Compounds for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB, 30IUPHAR, 62Tocris Bioscience, 3BitterDB
See all sources

Compounds related to Diabetes Mellitus, Noninsulin-Dependent, Association with according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
13-o-methylglucose469.9SLC2A4, INSR
2vanadyl sulfate469.9IRS1, INSR
3grp-1469.9INSR, SLC2A4
4ag 1024469.8INSR, IRS1
5moxonidine469.8INSR, IRS1
6gliclazide46 52 1211.8INSR, SLC2A4
7glimepiride46 52 1211.8INSR, SLC2A4
82,4-dinitrophenol469.7IRS1, SLC2A4
9sulfonylurea469.6SLC2A4, IRS1
10c-peptide469.5INSR, IRS1, HNF4A
11thiazolidinedione469.4IRS1, SLC2A4
12phosphoenolpyruvate46 1210.4SLC2A4, HNF4A, IRS1
13vanadium469.4SLC2A4, IRS1, INSR
14phenylarsine oxide469.4SLC2A4, IRS1, INSR
15streptozotocin469.4SLC2A4, IRS1, INSR
16glucosamine46 25 1211.4INSR, IRS1, SLC2A4
17metformin46 52 1211.4INSR, IRS1, SLC2A4
18pioglitazone30 46 52 1212.4SLC2A4, IRS1, INSR
19anisomycin46 1210.4INSR, IRS1, SLC2A4
20sterol469.3SLC2A4, HNF4A, IRS1
21indinavir46 52 1211.3SLC2A4, IRS1
22rosiglitazone30 46 52 25 1213.3INSR, IRS1, SLC2A4
23phosphatidylinositol-3,4,5-trisphosphate46 2510.3INSR, IRS1, SLC2A4
24troglitazone46 30 62 1212.3SLC2A4, IRS1, INSR
25chloramphenicol46 3 52 1212.3INSR, HNF4A, SLC2A4
26ibmx46 62 3011.3SLC2A4, IRS1, INSR
27okadaic acid46 6210.3SLC2A4, HNF4A, IRS1
28tamoxifen46 52 30 1212.2SLC2A4, AKT2, IRS1
29sb 20358046 6210.1INSR, IRS1, AKT2, SLC2A4
30rapamycin469.0INSR, IRS1, AKT2, SLC2A4
31ly294002469.0INSR, IRS1, AKT2, SLC2A4
32wortmannin469.0INSR, IRS1, AKT2, SLC2A4
33palmitate469.0SLC2A4, HNF4A, IRS1, INSR
34glycerol46 25 1211.0INSR, IRS1, HNF4A, SLC2A4
35pd 98,059469.0SLC2A4, HNF4A, IRS1, INSR
36arginine468.9HNF4A, HNF1B, IRS1, INSR
37testosterone46 62 25 1211.9SLC2A4, HNF4A, IRS1, INSR
38dexamethasone46 52 30 1211.8SLC2A4, HNF4A, IRS1, INSR
39phosphotyrosine468.8INSR, IRS1, MAPK8IP1, SLC2A4
40alanine468.7INSR, IRS1, HNF4A, SLC2A4
41retinoic acid46 259.6SLC2A4, HNF4A, HNF1B, IRS1
42phosphatidylinositol468.6SLC2A4, HNF4A, AKT2, IRS1, INSR
432-deoxyglucose46 129.6PPP1R3A, INSR, IRS1, SLC2A4
44estrogen468.4INSR, IRS1, AKT2, HNF4A
45tyrosine468.4INSR, IRS1, AKT2, HNF4A, SLC2A4
46threonine468.0INSR, IRS1, AKT2, MAPK8IP1, HNF4A, SLC2A4
47serine468.0INSR, IRS1, AKT2, MAPK8IP1, HNF4A, SLC2A4
48glycogen46 258.8PPP1R3A, INSR, IRS1, AKT2, HNF4A, SLC2A4
49lipid467.8PPP1R3A, INSR, IRS1, AKT2, HNF4A, SLC2A4
50glucose466.9SLC2A4, PPP1R3A, INSR, IRS1, AKT2, MAPK8IP1

GO Terms for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Diabetes Mellitus, Noninsulin-Dependent, Association with according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:0059019.5IRS1, INSR
2insulin receptor complexGO:0058999.2IRS1, INSR

Biological processes related to Diabetes Mellitus, Noninsulin-Dependent, Association with according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1kidney developmentGO:0018229.8HNF1B, WFS1
2positive regulation of glucose import in response to insulin stimulusGO:20012759.8IRS1, AKT2
3positive regulation of glucose metabolic processGO:0109079.7AKT2, IRS1
4positive regulation of fatty acid beta-oxidationGO:0320009.7AKT2, IRS1
5endocrine pancreas developmentGO:0310189.6HNF4A, HNF1B
6response to glucoseGO:0097499.4HNF4A, HNF1B
7positive regulation of glycogen biosynthetic processGO:0457259.4AKT2, IRS1, INSR
8positive regulation of glucose importGO:0463269.3AKT2, IRS1, INSR
9insulin receptor signaling pathwayGO:0082869.2INSR, IRS1, AKT2
10cellular response to insulin stimulusGO:0328698.9INSR, IRS1, AKT2, SLC2A4
11glucose homeostasisGO:0425938.5SLC2A4, HNF4A, WFS1, IRS1, INSR

Molecular functions related to Diabetes Mellitus, Noninsulin-Dependent, Association with according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.7HNF4A, HNF1B
2insulin-like growth factor receptor bindingGO:0051599.6IRS1, INSR
3phosphatidylinositol 3-kinase bindingGO:0435489.5IRS1, INSR
4SH2 domain bindingGO:0421699.4IRS1, INSR
5protein bindingGO:0055156.9INSR, IRS1, AKT2, MAPK8IP1, HNF1B, HNF4A

Products for genes affiliated with Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diabetes Mellitus, Noninsulin-Dependent, Association with

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet