MCID: MNG006
MIFTS: 35

Monogenic Diabetes malady

Rare diseases category

Aliases & Classifications for Monogenic Diabetes

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Aliases & Descriptions for Monogenic Diabetes:

Name: Monogenic Diabetes 42


Classifications:



Summaries for Monogenic Diabetes

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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 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.

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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MGI Mouse Phenotypes related to Monogenic Diabetes:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9HNF1A, KCNJ11, INS, CEL
2MP:00053698.2KCNJ11, HNF1B, HNF1A, PDX1, INS
3MP:00053818.1HNF1A, PDX1, CEL, INS, SLC19A2, NEUROD1
4MP:00053707.9INS, PDX1, HNF4A, HNF1A, HNF1B, CEL
5MP:00030127.8HNF1A, MAFA, INS, KCNJ11, ABCC8, PDX1
6MP:00053677.4HNF1B, MAFA, GCK, PDX1, HNF1A, NEUROD1
7MP:00107687.1SLC19A2, HNF1A, KCNJ11, INS, HNF4A, PDX1
8MP:00053796.2ABCC8, PDX1, HNF1A, HNF1B, MAFA, NEUROD1
9MP:00053785.8PAX4, KCNJ11, INS, NEUROD1, IAPP, CEL
10MP:00053765.6HNF1A, CEL, SLC19A2, GCK, PDX1, HNF4A

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
29.8NEUROD1, HNF4A
3
Show member pathways
9.8ABCC8, KCNJ11
4
Show member pathways
9.1INS, KCNJ11, ABCC8
5
Show member pathways
9.0GCK, INS, NEUROD1, HNF4A
68.7INS, HNF4A, HNF1A, NEUROD1, PDX1
7
Show member pathways
8.6GCK, PDX1, INS, ABCC8, KCNJ11
88.1GCK, PDX1, HNF4A, HNF1A, INS, KCNJ11
9
Show member pathways
7.7CEL, ADPGK, KCNJ11, GCK, SLC19A2, ABCC8
10
Show member pathways
6.4GCK, INS, PDX1, PAX4, NEUROD1, IAPP
11
Show member pathways
6.4INS, PAX4, NEUROD1, GCK, PDX1, HNF4A
12
Show member pathways
6.3ABCC8, HNF4A, GCK, PDX1, HNF1A, HNF1B

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
1cibenzoline4410.2ABCC8, KCNJ11
2nnmt4410.1HNF1A, HNF1B
3nicorandil44 2811.0KCNJ11, ABCC8
4polyphosphate4410.0ADPGK, GCK
5mgadp4410.0KCNJ11, ABCC8
6phosphoenolpyruvate44 1111.0HNF4A, HNF1A, GCK
7chromium picolinate449.9INS, GCK
8exenatide44 1110.8INS, IAPP
9liraglutide44 28 1111.8INS, IAPP
10cromakalim44 2810.8KCNJ11, ABCC8
11meglitinide449.8ABCC8, INS
12sitagliptin44 1110.7IAPP, INS
13mitiglinide44 1110.7ABCC8, INS
14pyruvate449.7PDX1, HNF1A, GCK, HNF4A
15preproinsulin449.7INS, GCK, PDX1
16glipizide44 50 1111.6ABCC8, INS
17acarbose44 1110.6INS, IAPP
18gliclazide44 50 1111.5INS, ABCC8, KCNJ11
19glimepiride44 50 1111.5KCNJ11, ABCC8, INS
20i-app449.4GCK, PDX1, IAPP, INS
21incretin449.4INS, PDX1, IAPP, GCK
22streptozotocin449.4INS, IAPP, PDX1, GCK
23leucine449.4KCNJ11, HNF4A, ABCC8, HNF1A, GCK
24potassium44 24 1111.4HNF1A, GCK, KCNJ11, ABCC8
25nicotinamide44 1110.3INS, PDX1, HNF1B
26myristic acid44 24 1111.3INS, HNF4A, CEL
27chlorpropamide44 50 1111.3ABCC8, INS
28diazoxide44 60 28 1112.3GCK, INS, KCNJ11, ABCC8
29glibenclamide44 28 50 6012.3KCNJ11, INS, IAPP, ABCC8
30glycerol44 24 1111.3INS, HNF4A, GCK, CEL
31tolbutamide44 28 50 1112.1HNF1A, GCK, INS, KCNJ11, ABCC8
32glycogen44 2410.0INS, HNF4A, GCK, ABCC8, IAPP
33dexamethasone44 50 28 1112.0HNF4A, INS, IAPP, HNF1A, GCK
34metformin44 50 1111.0KCNJ11, IAPP, GCK, ABCC8, INS
35katp449.0PDX1, GCK, INS, KCNJ11, ABCC8
36proline448.9CEL, HNF1A, IAPP, PDX1
37retinoic acid44 249.9GCK, HNF4A, NEUROD1, HNF1B, HNF1A, PDX1
38atp44 289.8KCNJ11, HNF4A, ADPGK, ABCC8, IAPP, GCK
39glutamate448.7KCNJ11, ABCC8, GCK, HNF4A, INS
40fatty acid448.6ABCC8, INS, CEL, HNF1A, HNF4A, GCK
41c-peptide448.6KCNJ11, HNF1A, INS, GCK, HNF4A, IAPP
42repaglinide50 44 1110.6KCNJ11, INS, PAX4, NEUROD1, IAPP, ABCC8
43oligonucleotide448.6GCK, HNF4A, HNF1A, HNF1B, CEL, PDX1
44sulfonylurea448.5ABCC8, KCNJ11, INS, IAPP, HNF1A, PDX1
45lipid448.3INS, IAPP, CEL, HNF1A, HNF4A, GCK
46arginine448.2KCNJ11, IAPP, ABCC8, HNF1B, HNF4A, GCK
47serine448.2CEL, IAPP, ABCC8, HNF4A, PDX1, GCK
48calcium44 50 24 1111.2ABCC8, NEUROD1, IAPP, KCNJ11, CEL, HNF4A
49cholesterol44 28 24 1110.9GCK, HNF4A, CEL, HNF1A, ABCC8, INS
50glucose445.4SLC19A2, HNF4A, PAX4, NEUROD1, ADPGK, IAPP

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:005159410.2PDX1, GCK
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:00458219.8INS, GCK
7cellular response to glucose stimulusGO:00713339.7NEUROD1, KCNJ11
8positive regulation of glycogen biosynthetic processGO:00457259.7INS, GCK
9glycolytic processGO:00060969.7GCK, ADPGK
10positive regulation of insulin secretionGO:00320249.6PDX1, GCK
11positive regulation of cell differentiationGO:00455979.4INS, PAX4, NEUROD1
12response to drugGO:00424939.4PDX1, KCNJ11, PAX4, NEUROD1
13glucose metabolic processGO:00060069.4INS, PDX1, KCNJ11
14energy reserve metabolic processGO:00061129.3KCNJ11, ABCC8, INS
15nitric oxide mediated signal transductionGO:00072639.3PDX1, NEUROD1, MAFA
16positive regulation of transcription, DNA-templatedGO:00458939.2HNF1A, NEUROD1, HNF4A, HNF1B
17response to glucoseGO:00097498.8HNF4A, HNF1B, MAFA, NEUROD1
18glucose homeostasisGO:00425938.7PDX1, HNF4A, INS, GCK, HNF1A, NEUROD1
19regulation of insulin secretionGO:00507968.6HNF4A, ABCC8, KCNJ11, INS, NEUROD1, GCK
20insulin secretionGO:00300738.5NEUROD1, MAFA, HNF1B, HNF1A, PDX1
21small molecule metabolic processGO:00442818.4SLC19A2, KCNJ11, GCK, CEL, INS, ABCC8
22positive regulation of transcription from RNA polymerase II promoterGO:00459448.3NEUROD1, MAFA, HNF4A, PDX1, HNF1A, HNF1B
23endocrine pancreas developmentGO:00310187.8IAPP, GCK, PDX1, HNF4A, HNF1B, INS

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

Sources for Monogenic Diabetes

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet