MCID: MNG006
MIFTS: 35

Monogenic Diabetes malady

Rare diseases category

Summaries for Monogenic Diabetes

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NIH Rare Diseases:41 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 based summary: Monogenic Diabetes is related to diabetes mellitus, permanent neonatal and hyperinsulinism. An important gene associated with Monogenic Diabetes is SLC19A2 (solute carrier family 19 (thiamine transporter), member 2), and among its related pathways are Dichloroethylene metabolism and Transcriptional Regulatory Network in Embryonic Stem Cell. The compounds cibenzoline and nnmt have been mentioned in the context of this disorder. Affiliated tissues include testes and pancreas, and related mouse phenotypes are adipose tissue and muscle.

Aliases & Classifications for Monogenic Diabetes

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Monogenic Diabetes, Aliases & Descriptions:

Name: Monogenic Diabetes 41


Classifications:

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


Related Diseases for Monogenic Diabetes

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Diseases related to Monogenic Diabetes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus, permanent neonatal30.5ABCC8, INS, GCK
2hyperinsulinism30.0GCK, INS, KCNJ11, ABCC8
3hypoglycemia29.6ABCC8, KCNJ11, INS, IAPP, HNF4A, GCK
4maturity-onset diabetes of the young28.6GCK, PDX1, HNF4A, HNF1A, HNF1B, NEUROD1
5hyperglycemia27.9GCK, ABCC8, KCNJ11, PDX1, HNF4A, HNF1A
6pancreatic agenesis10.5PDX1
7diabetic ketoacidosis10.3INS
8exocrine pancreatic insufficiency10.2CEL
9hypopituitarism10.1
10pancreatitis10.1
11renal dysplasia10.1
12hyperinsulinemic hypoglycemia, familial, 210.1INS, ABCC8
13hyperammonemia multi-gene panels10.1ABCC8, KCNJ11, GCK
14diabetes mellitus, noninsulin-dependent10.1HNF4A, HNF1B
15polycystic kidney and hepatic disease10.0HNF1A, HNF1B
16diabetes mellitus, insulin-dependent10.0INS, HNF1A, HNF4A, GCK
17hyperinsulinemic hypoglycemia9.9ABCC8, KCNJ11, INS, GCK
18cystic fibrosis9.9ABCC8, KCNJ11, INS
19hyperuricemia9.9GCK, HNF1B, INS
20microvascular complications of diabetes 39.8HNF1B, IAPP, INS
21glucose intolerance9.8INS, PAX4, IAPP, PDX1, GCK
22metabolic syndrome x9.7ABCC8, INS, IAPP, HNF4A, GCK
23pancreatic cancer9.6INS, IAPP, CEL, HNF4A, PDX1
24primary hyperoxaluria9.6HNF4A, HNF1A, HNF1B, IAPP, INS
25galactosemia9.6HNF4A, HNF1B, INS
26hepatocellular carcinoma9.6HNF4A, HNF1A, HNF1B, INS
27mody, type ii9.5IAPP, INS, KCNJ11, ABCC8, HNF1A, HNF4A
28obesity9.5ABCC8, KCNJ11, INS, IAPP, HNF1A, HNF4A
29neonatal diabetes mellitus9.4GCK, PDX1, HNF1B, INS, KCNJ11, ABCC8
30adenocarcinoma9.3NEUROD1, IAPP, CEL, HNF1B, HNF4A, PDX1
31insulinoma9.1PDX1, HNF4A, HNF1A, MAFA, IAPP, PAX4

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



Diseases related to monogenic diabetes

Symptoms for Monogenic Diabetes

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Drugs & Therapeutics for Monogenic Diabetes

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Drug clinical trials:

Search ClinicalTrials for Monogenic Diabetes

Search NIH Clinical Center for Monogenic Diabetes

Genetic Tests for Monogenic Diabetes

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Anatomical Context for Monogenic Diabetes

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MalaCards organs/tissues related to Monogenic Diabetes:

31
Testes, Pancreas

Animal Models for Monogenic Diabetes or affiliated genes

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Publications for Monogenic Diabetes

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Articles related to Monogenic Diabetes:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Monogenic diabetes: the treatment options. (25773279)
2015
2
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. (25555642)
2015
3
The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort. (24550216)
2014
4
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. (25136813)
2014
5
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. (25306193)
2014
6
Insights from monogenic diabetes and glycemic treatment goals for common types of diabetes. (24430318)
2014
7
Many faces of monogenic diabetes. (24843749)
2014
8
The diagnosis and management of monogenic diabetes in children and adolescents. (25182307)
2014
9
Monogenic diabetes: old and new approaches to diagnosis. (23760703)
2013
10
Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA1c level. (24102923)
2013
11
Family history in the diagnosis of monogenic diabetes "leads and misleads". (24121389)
2013
12
Monogenic diabetes: a diagnostic algorithm for clinicians. (24705260)
2013
13
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. (23624530)
2013
14
Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. (22035297)
2012
15
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. (22498247)
2012
16
The role of pancreatic imaging in monogenic diabetes mellitus. (22124438)
2012
17
Monogenic diabetes in a family with 2 unknown HNF-4A gene mutations. (21922456)
2012
18
Monogenic diabetes mellitus due to defects in insulin secretion. (23037711)
2012
19
Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign. (22782286)
2012
20
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. (21051477)
2011
21
Review on monogenic diabetes. (21844708)
2011
22
Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. (21537110)
2011
23
Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes. (21193618)
2011
24
Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes. (21880229)
2011
25
Genetics in the real world: resources for pediatric nurses using monogenic diabetes as an exemplar. (21930042)
2011
26
Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire, UK. (21350841)
2011
27
Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes. (21183721)
2011
28
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (19760265)
2010
29
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. (20065546)
2010
30
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). (19903754)
2010
31
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro. (20546279)
2010
32
Type 2 diabetes, medication-induced diabetes, and monogenic diabetes in Canadian children: a prospective national surveillance study. (20067956)
2010
33
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. (20546258)
2010
34
If It's Not Type 1 or Type 2 Diabetes, It May be Monogenic Diabetes. (22478834)
2010
35
Functional targets of the monogenic diabetes transcription factors HNF-1alpha and HNF-4alpha are highly conserved between mice and humans. (19188435)
2009
36
Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. (19900242)
2009
37
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
38
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. (19566570)
2009
39
The diagnosis and management of monogenic diabetes in children and adolescents. (19754616)
2009
40
Diagnosing monogenic diabetes: common misinterpretations of genetic findings. (19732375)
2009
41
The clinical application of non-genetic biomarkers for differential diagnosis of monogenic diabetes. (20115926)
2009
42
A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. (19228875)
2009
43
RNA processing and mRNA surveillance in monogenic diabetes. (19787084)
2008
44
Monogenic diabetes: implications for therapy of rare types of disease. (17488343)
2008
45
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. (18436708)
2008
46
The rare syndromic forms of monogenic diabetes in childhood]. (18577346)
2008
47
ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. (17212604)
2006
48
Defining the genetic aetiology of monogenic diabetes can improve treatment. (16925503)
2006
49
Intrauterine hyperglycemia modifying the development of (monogenic) diabetes? (12663611)
2003
50
Monogenic diabetes mellitus in youth. The MODY syndromes. (10609119)
1999

Variations for Monogenic Diabetes

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Expression for genes affiliated with Monogenic Diabetes

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Search GEO for disease gene expression data for Monogenic Diabetes.

Pathways for genes affiliated with Monogenic Diabetes

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Pathways related to Monogenic Diabetes according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0HNF4A, HNF1A
29.8HNF4A, NEUROD1
3
Show member pathways
9.8KCNJ11, ABCC8
4
Show member pathways
9.1ABCC8, KCNJ11, INS
5
Show member pathways
9.0INS, NEUROD1, HNF4A, GCK
68.7PDX1, HNF4A, HNF1A, NEUROD1, INS
7
Show member pathways
8.6ABCC8, KCNJ11, INS, PDX1, GCK
88.1ABCC8, GCK, PDX1, HNF4A, HNF1A, INS
9
Show member pathways
7.7ABCC8, KCNJ11, INS, ADPGK, CEL, GCK
10
Show member pathways
6.4GCK, PDX1, HNF4A, HNF1A, HNF1B, MAFA
11
Show member pathways
6.4INS, PAX4, NEUROD1, IAPP, MAFA, HNF1B
12
Show member pathways
6.3GCK, PDX1, HNF4A, HNF1A, HNF1B, MAFA

Compounds for genes affiliated with Monogenic Diabetes

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Compounds related to Monogenic Diabetes according to GeneCards Suite gene sharing:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1cibenzoline4310.2KCNJ11, ABCC8
2nnmt4310.1HNF1A, HNF1B
3nicorandil43 2811.0ABCC8, KCNJ11
4mgadp4310.0ABCC8, KCNJ11
5polyphosphate4310.0ADPGK, GCK
6phosphoenolpyruvate43 1211.0GCK, HNF4A, HNF1A
7chromium picolinate439.9INS, GCK
8exenatide43 1210.8INS, IAPP
9liraglutide43 28 1211.8INS, IAPP
10meglitinide439.8ABCC8, INS
11cromakalim43 2810.8KCNJ11, ABCC8
12sitagliptin43 1210.7IAPP, INS
13mitiglinide43 1210.7INS, ABCC8
14pyruvate439.7GCK, PDX1, HNF4A, HNF1A
15preproinsulin439.7INS, PDX1, GCK
16glipizide43 49 1211.6INS, ABCC8
17acarbose43 1210.6IAPP, INS
18gliclazide43 49 1211.5ABCC8, KCNJ11, INS
19glimepiride43 49 1211.5INS, KCNJ11, ABCC8
20i-app439.4INS, IAPP, PDX1, GCK
21incretin439.4INS, IAPP, PDX1, GCK
22streptozotocin439.4INS, IAPP, PDX1, GCK
23leucine439.4ABCC8, KCNJ11, HNF1A, HNF4A, GCK
24potassium43 24 1211.4ABCC8, KCNJ11, HNF1A, GCK
25nicotinamide43 1210.3INS, HNF1B, PDX1
26myristic acid43 24 1211.3INS, CEL, HNF4A
27chlorpropamide43 49 1211.3INS, ABCC8
28diazoxide43 59 28 1212.3ABCC8, KCNJ11, INS, GCK
29glibenclamide43 28 49 5912.3IAPP, INS, KCNJ11, ABCC8
30glycerol43 24 1211.3INS, CEL, HNF4A, GCK
31tolbutamide43 28 49 1212.1ABCC8, KCNJ11, INS, HNF1A, GCK
32glycogen43 2410.0ABCC8, INS, IAPP, HNF4A, GCK
33dexamethasone43 49 28 1212.0GCK, HNF4A, HNF1A, IAPP, INS
34metformin43 49 1211.0GCK, IAPP, INS, KCNJ11, ABCC8
35katp439.0ABCC8, KCNJ11, INS, PDX1, GCK
36proline438.9IAPP, CEL, HNF1A, PDX1
37retinoic acid43 249.9NEUROD1, HNF1B, HNF1A, HNF4A, PDX1, GCK
38atp43 289.8ABCC8, KCNJ11, ADPGK, IAPP, HNF4A, GCK
39glutamate438.7ABCC8, KCNJ11, INS, HNF4A, GCK
40fatty acid438.6ABCC8, INS, CEL, HNF1A, HNF4A, GCK
41c-peptide438.6KCNJ11, INS, IAPP, HNF1A, HNF4A, PDX1
42repaglinide49 43 1210.6ABCC8, IAPP, NEUROD1, PAX4, INS, KCNJ11
43oligonucleotide438.6IAPP, CEL, HNF1B, HNF1A, HNF4A, PDX1
44sulfonylurea438.5PDX1, HNF1A, IAPP, INS, KCNJ11, ABCC8
45lipid438.3ABCC8, INS, IAPP, CEL, HNF1A, HNF4A
46arginine438.2ABCC8, KCNJ11, INS, IAPP, HNF1B, HNF4A
47serine438.2HNF4A, CEL, IAPP, INS, ABCC8, PDX1
48calcium43 49 24 1211.2ABCC8, KCNJ11, NEUROD1, IAPP, CEL, HNF4A
49cholesterol43 28 24 1210.9ABCC8, INS, IAPP, CEL, HNF1B, HNF1A
50glucose435.4ABCC8, KCNJ11, SLC19A2, GCK, PDX1, HNF4A

GO Terms for genes affiliated with Monogenic Diabetes

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Biological processes related to Monogenic Diabetes according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:005159410.2GCK, PDX1
2regulation of pronephros sizeGO:003556510.0HNF1A, HNF1B
3positive regulation of transcription initiation from RNA polymerase II promoterGO:006026110.0HNF1A, HNF1B
4signal transduction involved in regulation of gene expressionGO:00230199.9HNF4A, NEUROD1
5negative regulation of gluconeogenesisGO:00457219.8GCK, INS
6positive regulation of glycolytic processGO:00458219.8GCK, INS
7cellular response to glucose stimulusGO:00713339.7KCNJ11, NEUROD1
8positive regulation of glycogen biosynthetic processGO:00457259.7GCK, INS
9glycolytic processGO:00060969.7GCK, ADPGK
10positive regulation of insulin secretionGO:00320249.6GCK, PDX1
11positive regulation of cell differentiationGO:00455979.4INS, PAX4, NEUROD1
12response to drugGO:00424939.4KCNJ11, PAX4, NEUROD1, PDX1
13glucose metabolic processGO:00060069.4KCNJ11, INS, PDX1
14energy reserve metabolic processGO:00061129.3ABCC8, KCNJ11, INS
15nitric oxide mediated signal transductionGO:00072639.3PDX1, MAFA, NEUROD1
16positive regulation of transcription, DNA-templatedGO:00458939.2NEUROD1, HNF1B, HNF1A, HNF4A
17response to glucoseGO:00097498.8NEUROD1, MAFA, HNF1B, HNF4A
18glucose homeostasisGO:00425938.7INS, NEUROD1, HNF1A, HNF4A, PDX1, GCK
19regulation of insulin secretionGO:00507968.6ABCC8, KCNJ11, INS, NEUROD1, HNF4A, GCK
20insulin secretionGO:00300738.5NEUROD1, MAFA, HNF1B, HNF1A, PDX1
21small molecule metabolic processGO:00442818.4ABCC8, KCNJ11, INS, CEL, GCK, SLC19A2
22positive regulation of transcription from RNA polymerase II promoterGO:00459448.3NEUROD1, MAFA, HNF1B, HNF1A, HNF4A, PDX1
23endocrine pancreas developmentGO:00310187.8GCK, INS, PAX4, NEUROD1, IAPP, HNF1B

Molecular functions related to Monogenic Diabetes according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II activating transcription factor bindingGO:00011029.8HNF4A, NEUROD1
2transcription regulatory region DNA bindingGO:00442129.4HNF4A, HNF1A, HNF1B
3protein homodimerization activityGO:00428038.3MAFA, HNF1B, HNF1A, HNF4A
4protein heterodimerization activityGO:00469828.2NEUROD1, MAFA, HNF1B, HNF1A, PDX1
5sequence-specific DNA bindingGO:00435658.0HNF4A, HNF1A, HNF1B, MAFA, NEUROD1, PAX4
6sequence-specific DNA binding transcription factor activityGO:00037007.7PAX4, NEUROD1, MAFA, HNF1B, HNF1A, HNF4A

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet