MCID: MNG006
MIFTS: 36

Monogenic Diabetes malady

Summaries for Monogenic Diabetes

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 permanent neonatal diabetes mellitus and hypoglycemia. 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 pancreatic islet, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

Wikipedia:64 Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes caused... more...

Aliases & Classifications for Monogenic Diabetes

Sources:
43NIH Rare Diseases
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Aliases & Descriptions:

monogenic diabetes 43


Related Diseases for Monogenic Diabetes

Sources:
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
1permanent neonatal diabetes mellitus30.3GCK, ABCC8, INS
2hypoglycemia30.0KCNJ11, GCK, HNF4A, IAPP, ABCC8, INS
3maturity-onset diabetes of the young30.0KCNJ11, GCK, HNF1A, HNF4A, HNF1B, PDX1
4renal dysplasia10.1
5pancreatic agenesis10.0PDX1
6hepatitis10.0HNF4A
7hepatoblastoma10.0HNF4A, HNF1A
8gastrinoma10.0IAPP
9glucagonoma10.0PDX1
10beckwith-wiedemann syndrome10.0ABCC8
11pancreatitis10.0INS, CEL
12coronary heart disease10.0INS
13essential hypertension10.0INS, IAPP
14morbid obesity10.0INS
15adenoma10.0HNF1A, INS, HNF4A
16pituitary adenoma10.0ABCC8, NEUROD1
17hyperinsulinemic hypoglycemia10.0INS, ABCC8
18familial hyperinsulinism10.0ABCC8, KCNJ11, GCK
19type 1 diabetes10.0HNF1A, GCK, HNF4A, INS
20ischemia10.0GCK, ABCC8
21polycystic kidney disease, autosomal recessive10.0HNF1B, HNF1A
22hyperammonemia multi-gene panels10.0GCK, ABCC8, KCNJ11
23hyperuricemia10.0GCK, INS, HNF1B
24hyperinsulinism10.0GCK, INS, KCNJ11, ABCC8
25pancreatic cancer10.0HNF4A, PDX1, INS, CEL, IAPP
26diabetes mellitus, noninsulin-dependent10.0ABCC8, HNF1B, NEUROD1, HNF4A
27diabetic nephropathy10.0HNF1B, INS, IAPP
28metabolic syndrome x10.0ABCC8, INS, IAPP, HNF4A, GCK
29primary hyperoxaluria10.0HNF4A, INS, HNF1A, HNF1B, IAPP
30adenocarcinoma10.0NEUROD1, HNF4A, HNF1B, CEL, IAPP, PDX1
31gestational diabetes10.0KCNJ11, GCK, HNF1A, HNF4A, IAPP, INS
32obesity10.0IAPP, ABCC8, HNF1A, GCK, KCNJ11, HNF4A
33neonatal diabetes mellitus10.0HNF1B, GCK, KCNJ11, INS, ABCC8, PDX1
34insulin resistance9.9HNF1B, INS, HNF4A, PAX4, ABCC8, GCK
35insulinoma9.9MAFA, IAPP, PDX1, HNF4A, HNF1A, GCK
36glucose intolerance9.9IAPP, HNF1B, INS, ABCC8, HNF4A, HNF1A
37type 2 diabetes mellitus9.9KCNJ11, GCK, PDX1, NEUROD1, IAPP, PAX4
38hyperglycemia9.9PAX4, ABCC8, INS, MAFA, IAPP, NEUROD1
39diabetes mellitus9.9GCK, KCNJ11, HNF1A, HNF4A, PAX4, SLC19A2

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



Diseases related to monogenic diabetes

Clinical Features for Monogenic Diabetes

Drugs & Therapeutics for Monogenic Diabetes

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Monogenic Diabetes

Search NIH Clinical Center for Monogenic Diabetes

Search CenterWatch for Monogenic Diabetes

Genetic Tests for Monogenic Diabetes

Anatomical Context for Monogenic Diabetes

Sources:
33MalaCards
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MalaCards organs/tissues related to Monogenic Diabetes:

33
Pancreas, Pancreatic islet

Animal Models for Monogenic Diabetes or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Monogenic Diabetes

Sources:
51PubMed
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Articles related to Monogenic Diabetes:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Insights from monogenic diabetes and glycemic treatment goals for common types of diabetes. (24430318)
2014
2
Monogenic diabetes: old and new approaches to diagnosis. (23760703)
2013
3
Family history in the diagnosis of monogenic diabetes "leads and misleads". (24121389)
2013
4
Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome. (23729543)
2013
5
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. (23771172)
2013
6
Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. (22035297)
2012
7
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. (22498247)
2012
8
Monogenic diabetes in a family with 2 unknown HNF-4A gene mutations. (21922456)
2012
9
Monogenic diabetes mellitus due to defects in insulin secretion. (23037711)
2012
10
Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign. (22782286)
2012
11
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population. (21348868)
2012
12
Review on monogenic diabetes. (21844708)
2011
13
Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes. (21193618)
2011
14
Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes. (21880229)
2011
15
Genetics in the real world: resources for pediatric nurses using monogenic diabetes as an exemplar. (21930042)
2011
16
Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire, UK. (21350841)
2011
17
Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes. (21183721)
2011
18
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (19760265)
2010
19
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. (20065546)
2010
20
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). (19903754)
2010
21
Type 2 diabetes, medication-induced diabetes, and monogenic diabetes in Canadian children: a prospective national surveillance study. (20067956)
2010
22
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. (20546258)
2010
23
If It's Not Type 1 or Type 2 Diabetes, It May be Monogenic Diabetes. (22478834)
2010
24
Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. (19794065)
2010
25
Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies. (20863361)
2010
26
Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction. (19238352)
2009
27
Functional targets of the monogenic diabetes transcription factors HNF-1alpha and HNF-4alpha are highly conserved between mice and humans. (19188435)
2009
28
Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. (19900242)
2009
29
An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age. (19515026)
2009
30
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. (19566570)
2009
31
The diagnosis and management of monogenic diabetes in children and adolescents. (19754616)
2009
32
Diagnosing monogenic diabetes: common misinterpretations of genetic findings. (19732375)
2009
33
The clinical application of non-genetic biomarkers for differential diagnosis of monogenic diabetes. (20115926)
2009
34
A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. (19228875)
2009
35
Breakthroughs in monogenic diabetes genetics: from pediatric forms to young adulthood diabetes. (19396026)
2009
36
RNA processing and mRNA surveillance in monogenic diabetes. (19787084)
2008
37
Monogenic diabetes: implications for therapy of rare types of disease. (17488343)
2008
38
Our evolving understanding of monogenic diabetes: possibilities of improving glycaemic control following transfer from insulin to sulphonylureas. (18684428)
2008
39
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. (18301398)
2008
40
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. (18436708)
2008
41
The rare syndromic forms of monogenic diabetes in childhood]. (18577346)
2008
42
WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon. (18806274)
2008
43
ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. (17212604)
2006
44
Defining the genetic aetiology of monogenic diabetes can improve treatment. (16925503)
2006
45
Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. (16760222)
2006
46
Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient. (17186387)
2006
47
Thiamine transporter mutation: an example of monogenic diabetes mellitus. (17132746)
2006
48
Intrauterine hyperglycemia modifying the development of (monogenic) diabetes? (12663611)
2003
49
Monogenic forms of obesity and diabetes mellitus. (11924926)
2002
50
Monogenic diabetes mellitus in youth. The MODY syndromes. (10609119)
1999

Genetic Variations for Monogenic Diabetes

Expression for genes affiliated with Monogenic Diabetes

Sources:
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

Sources:
12EMD Millipore, 54Reactome, 52QIAGEN, 4Cell Signaling Technology, 30KEGG, 38NCBI BioSystems Database, 50PharmGKB
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Compounds for genes affiliated with Monogenic Diabetes

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Monogenic Diabetes according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1nnmt4510.1HNF1B, HNF1A
2polyphosphate4510.1GCK, ADPGK
3phosphoenolpyruvate45 1111.1GCK, HNF1A, HNF4A
4cibenzoline4510.0ABCC8, KCNJ11
5chromium picolinate4510.0GCK, INS
6nicorandil45 2911.0ABCC8, KCNJ11
7mgadp459.9KCNJ11, ABCC8
8pyruvate459.8GCK, HNF1A, HNF4A, PDX1
9meglitinide459.8INS, ABCC8
10preproinsulin459.8INS, PDX1, GCK
11cromakalim45 2910.8ABCC8, KCNJ11
12mitiglinide45 1110.7ABCC8, INS
13liraglutide45 29 1111.7IAPP, INS
14exenatide45 1110.7IAPP, INS
15sitagliptin45 1110.7IAPP, INS
16glipizide45 1110.6INS, ABCC8
17chlorpropamide45 1110.5INS, ABCC8
18myristic acid45 11 2411.5CEL, INS, HNF4A
19acarbose45 1110.4INS, IAPP
20glycerol45 11 2411.4GCK, HNF4A, INS, CEL
21glimepiride45 50 1111.4ABCC8, INS, KCNJ11
22gliclazide45 50 1111.4KCNJ11, INS, ABCC8
23nicotinamide45 1110.4INS, PDX1, HNF1B
24i-app459.4INS, IAPP, PDX1, GCK
25incretin459.4GCK, PDX1, IAPP, INS
26streptozotocin459.4INS, IAPP, PDX1, GCK
27pramlintide45 1110.3IAPP, INS
28leucine459.3KCNJ11, GCK, HNF1A, HNF4A, ABCC8
29diazoxide45 60 29 1112.2KCNJ11, GCK, INS, ABCC8
30potassium45 11 2411.2ABCC8, HNF1A, GCK, KCNJ11
31fructosamine45 2410.1IAPP, INS
32glibenclamide45 29 50 6012.0KCNJ11, IAPP, INS, ABCC8
33tolbutamide45 50 29 1112.0KCNJ11, GCK, HNF1A, INS, ABCC8
34katp459.0KCNJ11, GCK, PDX1, INS, ABCC8
35retinoic acid45 249.9GCK, HNF1A, HNF4A, HNF1B, PDX1, NEUROD1
36glycogen45 249.9GCK, HNF4A, IAPP, INS, ABCC8
37metformin45 50 1110.8KCNJ11, GCK, IAPP, INS, ABCC8
38dexamethasone45 50 29 1111.8GCK, HNF1A, HNF4A, IAPP, INS
39fatty acid458.8GCK, HNF1A, HNF4A, INS, ABCC8, CEL
40oligonucleotide458.7GCK, HNF1A, HNF4A, HNF1B, PDX1, IAPP
41atp45 299.5KCNJ11, GCK, HNF4A, IAPP, ABCC8, ADPGK
42c-peptide458.5KCNJ11, GCK, HNF1A, HNF4A, PDX1, IAPP
43repaglinide45 50 1110.4KCNJ11, NEUROD1, IAPP, INS, ABCC8, PAX4
44lipid458.3GCK, HNF1A, HNF4A, IAPP, INS, ABCC8
45sulfonylurea458.3ABCC8, INS, IAPP, PDX1, HNF1A, GCK
46serine458.2GCK, HNF4A, PDX1, IAPP, INS, ABCC8
47calcium45 50 11 2411.1KCNJ11, GCK, HNF4A, PDX1, NEUROD1, IAPP
48arginine458.0KCNJ11, GCK, HNF4A, HNF1B, IAPP, INS
49cholesterol45 29 11 2410.8GCK, HNF1A, HNF4A, HNF1B, IAPP, INS
50glucose455.3ADPGK, GCK, KCNJ11, HNF1A, HNF4A, PAX4

GO Terms for genes affiliated with Monogenic Diabetes

Sources:
16Gene Ontology
See all sources

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:03556510.0HNF1B, HNF1A
3positive regulation of transcription initiation from RNA polymerase II promoterGO:06026110.0HNF1A, HNF1B
4SMAD protein signal transductionGO:0603959.9HNF1A, HNF4A
5regulation of Wnt receptor signaling pathwayGO:0301119.9HNF1B, HNF1A
6negative regulation of gluconeogenesisGO:0457219.9INS, GCK
7positive regulation of glycolysisGO:0458219.8INS, GCK
8positive regulation of glycogen biosynthetic processGO:0457259.7INS, GCK
9signal transduction involved in regulation of gene expressionGO:0230199.6HNF4A, NEUROD1
10positive regulation of cell differentiationGO:0455979.5NEUROD1, INS, PAX4
11response to drugGO:0424939.4KCNJ11, PDX1, NEUROD1, PAX4
12nitric oxide mediated signal transductionGO:0072639.4MAFA, NEUROD1, PDX1
13glucose metabolic processGO:0060069.3INS, PDX1, KCNJ11
14energy reserve metabolic processGO:0061129.2KCNJ11, INS, ABCC8
15positive regulation of transcription, DNA-dependentGO:0458939.1NEUROD1, HNF1B, HNF4A, HNF1A
16glucose homeostasisGO:0425938.9GCK, HNF1A, HNF4A, PDX1, NEUROD1, INS
17response to glucose stimulusGO:0097498.6HNF1A, HNF4A, HNF1B, NEUROD1, MAFA
18insulin secretionGO:0300738.6HNF1A, HNF1B, PDX1, NEUROD1, MAFA
19positive regulation of transcription from RNA polymerase II promoterGO:0459448.3HNF1A, HNF4A, HNF1B, PDX1, NEUROD1, MAFA
20regulation of insulin secretionGO:0507968.3KCNJ11, GCK, HNF1A, HNF4A, NEUROD1, INS
21small molecule metabolic processGO:0442818.2KCNJ11, GCK, INS, ABCC8, SLC19A2, CEL
22endocrine pancreas developmentGO:0310187.6PAX4, GCK, HNF1A, HNF4A, HNF1B, PDX1

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

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