MCID: MNG006
MIFTS: 33

Monogenic Diabetes malady

Summaries for Monogenic Diabetes

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 The most common forms of diabetes, type 1 and type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes . environmental factors, such as obesity in the case of type 2 diabetes, also play a part in the development of polygenic forms of diabetes. polygenic forms of diabetes often run in families. doctors diagnose polygenic forms of diabetes by testing blood glucose in individuals with risk factors or symptoms of diabetes . some rare forms of diabetes result from mutations in a single gene and are called monogenic . monogenic forms of diabetes may account for about 1 to 5 percent of all cases of diabetes in young people . in some cases of monogenic diabetes, the gene mutation is inherited; but in others, the gene mutation develops spontaneously . most mutations in monogenic diabetes reduce the body's ability to produce insulin, a protein produced in the pancreas that is essential for the body to use glucose for energy . as a result, monogenic diabetes can easily be mistaken for type 1 diabetes . last updated: 9/23/2011

MalaCards: Monogenic Diabetes is related to diabetes mellitus and permanent neonatal diabetes mellitus. An important gene associated with Monogenic Diabetes is HNF4A (hepatocyte nuclear factor 4, alpha), and among its related pathways are Dichloroethylene metabolism and Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells. The compounds nnmt and polyphosphate have been mentioned in the context of this disorder. Affiliated tissues include pancreas and testes, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

Wikipedia:63 Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes caused... more...

Aliases & Classifications for Monogenic Diabetes

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42NIH Rare Diseases
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Aliases & Descriptions:

monogenic diabetes 42


Related Diseases for Monogenic Diabetes

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17GeneCards, 18GeneDecks
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Diseases related to Monogenic Diabetes via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus30.5GCK, KCNJ11, HNF1A, HNF4A, PAX4, SLC19A2
2permanent neonatal diabetes mellitus30.2GCK, ABCC8, INS
3pancreatitis30.0INS, CEL
4hypoglycemia30.0KCNJ11, GCK, HNF4A, IAPP, ABCC8, INS
5maturity-onset diabetes of the young30.0KCNJ11, GCK, HNF1A, HNF4A, HNF1B, PDX1
6hyperglycemia30.0PAX4, ABCC8, INS, MAFA, IAPP, NEUROD1
7hypopituitarism10.0
8pancreatic agenesis10.0PDX1
9hepatitis10.0HNF4A
10hepatoblastoma10.0HNF4A, HNF1A
11gastrinoma10.0IAPP
12glucagonoma10.0PDX1
13beckwith-wiedemann syndrome10.0ABCC8
14coronary heart disease10.0INS
15essential hypertension10.0INS, IAPP
16morbid obesity10.0INS
17adenoma10.0HNF1A, INS, HNF4A
18pituitary adenoma10.0ABCC8, NEUROD1
19hyperinsulinemic hypoglycemia10.0INS, ABCC8
20familial hyperinsulinism10.0ABCC8, KCNJ11, GCK
21type 1 diabetes10.0HNF1A, GCK, HNF4A, INS
22ischemia10.0GCK, ABCC8
23polycystic kidney disease, autosomal recessive10.0HNF1B, HNF1A
24hyperammonemia multi-gene panels10.0GCK, ABCC8, KCNJ11
25hyperuricemia10.0GCK, INS, HNF1B
26hyperinsulinism10.0GCK, INS, KCNJ11, ABCC8
27pancreatic cancer10.0HNF4A, PDX1, INS, CEL, IAPP
28diabetes mellitus, noninsulin-dependent10.0ABCC8, HNF1B, NEUROD1, HNF4A
29diabetic nephropathy10.0HNF1B, INS, IAPP
30metabolic syndrome x10.0ABCC8, INS, IAPP, HNF4A, GCK
31primary hyperoxaluria10.0HNF4A, INS, HNF1A, HNF1B, IAPP
32adenocarcinoma10.0NEUROD1, HNF4A, HNF1B, CEL, IAPP, PDX1
33gestational diabetes10.0KCNJ11, GCK, HNF1A, HNF4A, IAPP, INS
34obesity10.0IAPP, ABCC8, HNF1A, GCK, KCNJ11, HNF4A
35neonatal diabetes mellitus10.0HNF1B, GCK, KCNJ11, INS, ABCC8, PDX1
36insulin resistance9.9HNF1B, INS, HNF4A, PAX4, ABCC8, GCK
37insulinoma9.9MAFA, IAPP, PDX1, HNF4A, HNF1A, GCK
38glucose intolerance9.9IAPP, HNF1B, INS, ABCC8, HNF4A, HNF1A
39type 2 diabetes mellitus9.9KCNJ11, GCK, PDX1, NEUROD1, IAPP, PAX4

Graphical network of the top 20 diseases related to Monogenic Diabetes:



Diseases related to monogenic diabetes

Clinical Features for Monogenic Diabetes

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Drugs & Therapeutics for Monogenic Diabetes

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

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Drug clinical trials:

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Genetic Tests for Monogenic Diabetes

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Anatomical Context for Monogenic Diabetes

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32MalaCards
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MalaCards organs/tissues related to Monogenic Diabetes:

32
Pancreas, Testes

Animal Models for Monogenic Diabetes or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Monogenic Diabetes:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4CEL, SLC19A2, INS, NEUROD1, PDX1, HNF1A
2MP:00053708.1GCK, HNF1A, HNF4A, HNF1B, PDX1, INS
3MP:00053677.4GCK, HNF1A, HNF1B, PDX1, NEUROD1, MAFA
4MP:00030127.4KCNJ11, HNF1A, PDX1, MAFA, INS, ABCC8
5MP:00107686.9KCNJ11, GCK, HNF1A, HNF4A, HNF1B, PDX1
6MP:00053796.2PAX4, KCNJ11, GCK, HNF1A, HNF1B, PDX1
7MP:00053785.9HNF1B, HNF4A, HNF1A, GCK, KCNJ11, PDX1
8MP:00053765.5HNF1B, HNF4A, HNF1A, GCK, KCNJ11, PDX1

Publications for Monogenic Diabetes

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Genetic Variations for Monogenic Diabetes

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Expression for genes affiliated with Monogenic Diabetes

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Monogenic Diabetes

Search GEO for disease gene expression data for Monogenic Diabetes.

Pathways for genes affiliated with Monogenic Diabetes

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12EMD Millipore, 53Reactome, 51QIAGEN, 4Cell Signaling Technology, 29KEGG, 37NCBI BioSystems Database, 49PharmGKB
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Compounds for genes affiliated with Monogenic Diabetes

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Monogenic Diabetes according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1nnmt4410.1HNF1B, HNF1A
2polyphosphate4410.1ADPGK, GCK
3phosphoenolpyruvate44 1111.1GCK, HNF1A, HNF4A
4cibenzoline4410.0ABCC8, KCNJ11
5chromium picolinate4410.0INS, GCK
6nicorandil44 2811.0KCNJ11, ABCC8
7mgadp449.9KCNJ11, ABCC8
8pyruvate449.8GCK, PDX1, HNF4A, HNF1A
9meglitinide449.8INS, ABCC8
10preproinsulin449.8INS, PDX1, GCK
11cromakalim44 2810.8KCNJ11, ABCC8
12mitiglinide44 1110.7INS, ABCC8
13liraglutide44 28 1111.7IAPP, INS
14exenatide44 1110.7INS, IAPP
15sitagliptin44 1110.6IAPP, INS
16glipizide44 1110.6ABCC8, INS
17chlorpropamide44 1110.5ABCC8, INS
18myristic acid44 11 2411.5INS, CEL, HNF4A
19acarbose44 1110.4IAPP, INS
20glycerol44 11 2411.4CEL, GCK, INS, HNF4A
21glimepiride44 49 1111.4ABCC8, INS, KCNJ11
22gliclazide44 49 1111.4KCNJ11, INS, ABCC8
23nicotinamide44 1110.4INS, PDX1, HNF1B
24i-app449.4PDX1, GCK, IAPP, INS
25incretin449.4GCK, INS, IAPP, PDX1
26streptozotocin449.4GCK, PDX1, INS, IAPP
27fructosamine44 2410.3IAPP, INS
28leucine449.3ABCC8, HNF4A, HNF1A, GCK, KCNJ11
29diazoxide44 59 28 1112.2KCNJ11, GCK, INS, ABCC8
30potassium44 11 2411.2HNF1A, ABCC8, GCK, KCNJ11
31pramlintide44 1110.1INS, IAPP
32glibenclamide44 28 49 5912.0IAPP, KCNJ11, INS, ABCC8
33tolbutamide44 49 28 1112.0HNF1A, GCK, KCNJ11, INS, ABCC8
34katp449.0INS, ABCC8, PDX1, GCK, KCNJ11
35retinoic acid44 249.9HNF1B, PDX1, NEUROD1, HNF1A, GCK, HNF4A
36glycogen44 249.9ABCC8, GCK, HNF4A, IAPP, INS
37metformin44 49 1110.8INS, IAPP, GCK, KCNJ11, ABCC8
38dexamethasone44 49 28 1111.8INS, IAPP, HNF4A, GCK, HNF1A
39fatty acid448.8CEL, ABCC8, INS, HNF4A, HNF1A, GCK
40oligonucleotide448.7CEL, IAPP, PDX1, GCK, HNF1A, HNF4A
41atp44 289.5ABCC8, GCK, HNF4A, ADPGK, IAPP, KCNJ11
42c-peptide448.5GCK, HNF1A, HNF4A, PDX1, IAPP, INS
43repaglinide44 49 1110.4KCNJ11, PAX4, ABCC8, INS, IAPP, NEUROD1
44lipid448.3GCK, ABCC8, HNF1A, HNF4A, IAPP, CEL
45sulfonylurea448.3ABCC8, INS, IAPP, KCNJ11, GCK, PDX1
46serine448.2CEL, ABCC8, INS, IAPP, PDX1, HNF4A
47calcium44 49 11 2411.1HNF4A, GCK, NEUROD1, IAPP, PDX1, KCNJ11
48arginine448.0ABCC8, INS, IAPP, KCNJ11, HNF1B, GCK
49cholesterol44 28 11 2410.8ABCC8, INS, IAPP, HNF1B, HNF4A, HNF1A
50glucose445.3SLC19A2, ABCC8, PAX4, ADPGK, INS, MAFA

GO Terms for genes affiliated with Monogenic Diabetes

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16Gene Ontology
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Biological processes related to Monogenic Diabetes according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:05159410.2PDX1, GCK
2regulation of pronephros sizeGO:03556510.0HNF1A, HNF1B
3positive regulation of transcription initiation from RNA polymerase II promoterGO:06026110.0HNF1A, HNF1B
4regulation of Wnt receptor signaling pathwayGO:0301119.9HNF1A, HNF1B
5negative regulation of gluconeogenesisGO:0457219.9INS, GCK
6positive regulation of glycolysisGO:0458219.8INS, GCK
7signal transduction involved in regulation of gene expressionGO:0230199.8HNF4A, NEUROD1
8SMAD protein signal transductionGO:0603959.7HNF1A, HNF4A
9positive regulation of glycogen biosynthetic processGO:0457259.7INS, GCK
10positive regulation of cell differentiationGO:0455979.5PAX4, INS, NEUROD1
11response to drugGO:0424939.4NEUROD1, PDX1, KCNJ11, PAX4
12nitric oxide mediated signal transductionGO:0072639.4NEUROD1, PDX1, MAFA
13glucose metabolic processGO:0060069.3KCNJ11, PDX1, INS
14energy reserve metabolic processGO:0061129.2ABCC8, KCNJ11, INS
15positive regulation of transcription, DNA-dependentGO:0458939.1HNF1A, NEUROD1, HNF1B, HNF4A
16glucose homeostasisGO:0425938.9PDX1, GCK, HNF1A, HNF4A, INS, NEUROD1
17response to glucose stimulusGO:0097498.6NEUROD1, HNF4A, MAFA, HNF1B, HNF1A
18insulin secretionGO:0300738.6MAFA, HNF1B, PDX1, NEUROD1, HNF1A
19positive regulation of transcription from RNA polymerase II promoterGO:0459448.3HNF1A, HNF4A, HNF1B, PDX1, NEUROD1, MAFA
20regulation of insulin secretionGO:0507968.3NEUROD1, ABCC8, INS, HNF4A, HNF1A, GCK
21small molecule metabolic processGO:0442818.2INS, GCK, ABCC8, CEL, KCNJ11, SLC19A2
22endocrine pancreas developmentGO:0310187.6PDX1, HNF1A, HNF4A, HNF1B, PAX4, INS

Molecular functions related to Monogenic Diabetes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.5HNF4A, HNF1A, HNF1B
2double-stranded DNA bindingGO:0036909.3HNF1A, NEUROD1, PAX4
3protein heterodimerization activityGO:0469828.2NEUROD1, PDX1, HNF1B, MAFA, HNF1A
4sequence-specific DNA bindingGO:0435658.1NEUROD1, HNF1A, HNF4A, HNF1B, MAFA, PAX4
5sequence-specific DNA binding transcription factor activityGO:0037007.8HNF1A, HNF4A, HNF1B, PDX1, NEUROD1, MAFA

Products for genes affiliated with Monogenic Diabetes

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Sources for Monogenic Diabetes

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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