MCID: MNG006
MIFTS: 42

Monogenic Diabetes malady

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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 permanent neonatal diabetes mellitus and hypoglycemia. 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.

Wikipedia:65 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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Monogenic Diabetes, Aliases & Descriptions:

Name: Monogenic Diabetes 42


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/GeneDecks gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1permanent neonatal diabetes mellitus30.3INS, KCNJ11, ABCC8
2hypoglycemia29.6IAPP, GCK, HNF4A, INS, KCNJ11, ABCC8
3maturity-onset diabetes of the young28.6KCNJ11, INS, PAX4, NEUROD1, HNF1B, HNF1A
4diabetes mellitus28.5SLC19A2, GCK, PDX1, HNF4A, HNF1A, HNF1B
5hyperglycemia27.9NEUROD1, PAX4, INS, KCNJ11, ABCC8, IAPP
6pancreatic agenesis10.5PDX1
7diabetic ketoacidosis10.3INS
8exocrine pancreatic insufficiency10.2CEL
9familial hyperinsulinism10.1ABCC8, GCK, KCNJ11
10hyperinsulinemic hypoglycemia10.1ABCC8, INS
11hypopituitarism10.1
12pancreatitis10.1
13renal dysplasia10.1
14hyperammonemia multi-gene panels10.1ABCC8, GCK, KCNJ11
15type 2 diabetes mellitus10.1HNF4A, HNF1B
16polycystic kidney disease, autosomal recessive10.0HNF1B, HNF1A
17type 1 diabetes mellitus10.0HNF4A, HNF1A, INS, GCK
18hyperinsulinism9.9GCK, INS, ABCC8, KCNJ11
19cystic fibrosis9.9INS, ABCC8, KCNJ11
20hyperuricemia9.9HNF1B, INS, GCK
21diabetic nephropathy9.8INS, IAPP, HNF1B
22glucose intolerance9.8GCK, PDX1, IAPP, PAX4, INS
23metabolic syndrome x9.7ABCC8, IAPP, INS, GCK, HNF4A
24diabetes mellitus, noninsulin-dependent9.7HNF1B, ABCC8, HNF4A, NEUROD1
25pancreatic cancer9.6HNF4A, INS, IAPP, PDX1, CEL
26primary hyperoxaluria9.6HNF4A, HNF1A, HNF1B, INS, IAPP
27galactosemia9.6HNF1B, INS, HNF4A
28liver cancer9.6HNF4A, HNF1B, INS, HNF1A
29gestational diabetes9.5HNF4A, GCK, KCNJ11, ABCC8, INS, IAPP
30obesity9.5ABCC8, GCK, HNF4A, HNF1A, INS, KCNJ11
31neonatal diabetes mellitus9.4KCNJ11, INS, HNF1B, PDX1, GCK, ABCC8
32adenocarcinoma9.3HNF1B, HNF4A, PDX1, CEL, IAPP, NEUROD1
33insulin resistance9.1INS, HNF4A, HNF1B, HNF1A, IAPP, PAX4
34insulinoma9.1ABCC8, KCNJ11, PAX4, IAPP, INS, MAFA

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:

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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:

32
Testes, Pancreas

Animal Models for Monogenic Diabetes or affiliated genes

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MGI Mouse Phenotypes related to Monogenic Diabetes:

36
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 60)
idTitleAuthorsYear
1
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
2
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. (25306193)
2014
3
Insights from monogenic diabetes and glycemic treatment goals for common types of diabetes. (24430318)
2014
4
Many faces of monogenic diabetes. (24843749)
2014
5
The diagnosis and management of monogenic diabetes in children and adolescents. (25182307)
2014
6
Population-based estimates for double diabetes amongst people with glucokinase monogenic diabetes, GCK-MODY. (24660669)
2014
7
Monogenic diabetes: old and new approaches to diagnosis. (23760703)
2013
8
Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA1c level. (24102923)
2013
9
Family history in the diagnosis of monogenic diabetes "leads and misleads". (24121389)
2013
10
Monogenic diabetes: a diagnostic algorithm for clinicians. (24705260)
2013
11
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. (23624530)
2013
12
Development of an economic evaluation of diagnostic strategies: the case of monogenic diabetes. (23793674)
2013
13
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. (22498247)
2012
14
The role of pancreatic imaging in monogenic diabetes mellitus. (22124438)
2012
15
Monogenic diabetes in a family with 2 unknown HNF-4A gene mutations. (21922456)
2012
16
Monogenic diabetes mellitus due to defects in insulin secretion. (23037711)
2012
17
Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign. (22782286)
2012
18
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. (21051477)
2011
19
Review on monogenic diabetes. (21844708)
2011
20
Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. (21537110)
2011
21
Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes. (21193618)
2011
22
Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes. (21880229)
2011
23
Genetics in the real world: resources for pediatric nurses using monogenic diabetes as an exemplar. (21930042)
2011
24
Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire, UK. (21350841)
2011
25
Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes. (21183721)
2011
26
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (19760265)
2010
27
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. (20065546)
2010
28
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). (19903754)
2010
29
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro. (20546279)
2010
30
Type 2 diabetes, medication-induced diabetes, and monogenic diabetes in Canadian children: a prospective national surveillance study. (20067956)
2010
31
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. (20546258)
2010
32
If It's Not Type 1 or Type 2 Diabetes, It May be Monogenic Diabetes. (22478834)
2010
33
Functional targets of the monogenic diabetes transcription factors HNF-1alpha and HNF-4alpha are highly conserved between mice and humans. (19188435)
2009
34
Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. (19900242)
2009
35
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
36
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. (19566570)
2009
37
The diagnosis and management of monogenic diabetes in children and adolescents. (19754616)
2009
38
Diagnosing monogenic diabetes: common misinterpretations of genetic findings. (19732375)
2009
39
The clinical application of non-genetic biomarkers for differential diagnosis of monogenic diabetes. (20115926)
2009
40
A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. (19228875)
2009
41
RNA processing and mRNA surveillance in monogenic diabetes. (19787084)
2008
42
Monogenic diabetes: implications for therapy of rare types of disease. (17488343)
2008
43
Our evolving understanding of monogenic diabetes: possibilities of improving glycaemic control following transfer from insulin to sulphonylureas. (18684428)
2008
44
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. (18436708)
2008
45
The rare syndromic forms of monogenic diabetes in childhood]. (18577346)
2008
46
ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. (17212604)
2006
47
Defining the genetic aetiology of monogenic diabetes can improve treatment. (16925503)
2006
48
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
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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Expression patterns in normal tissues for genes affiliated with Monogenic Diabetes

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Pathways for genes affiliated with Monogenic Diabetes

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Pathways related to Monogenic Diabetes according to GeneCards/GeneDecks:

(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
88.5HNF1A, HNF1B, IAPP, INS, PDX1
98.1GCK, PDX1, HNF4A, HNF1A, INS, KCNJ11
10
Show member pathways
7.7CEL, ADPGK, KCNJ11, GCK, SLC19A2, ABCC8
11
Show member pathways
6.4GCK, INS, PDX1, PAX4, NEUROD1, IAPP
12
Show member pathways
6.4INS, PAX4, NEUROD1, GCK, PDX1, HNF4A
13
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/GeneDecks:

(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 61 28 1112.3GCK, INS, KCNJ11, ABCC8
29glibenclamide44 28 50 6112.3KCNJ11, 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/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:05159410.2GCK, PDX1
2regulation of pronephros sizeGO:03556510.0HNF1A, HNF1B
3positive regulation of transcription initiation from RNA polymerase II promoterGO:06026110.0HNF1A, HNF1B
4signal transduction involved in regulation of gene expressionGO:0230199.9HNF4A, NEUROD1
5negative regulation of gluconeogenesisGO:0457219.8GCK, INS
6positive regulation of glycolytic processGO:0458219.8GCK, INS
7cellular response to glucose stimulusGO:0713339.7KCNJ11, NEUROD1
8positive regulation of glycogen biosynthetic processGO:0457259.7GCK, INS
9glycolytic processGO:0060969.7GCK, ADPGK
10positive regulation of insulin secretionGO:0320249.6GCK, PDX1
11positive regulation of cell differentiationGO:0455979.4INS, PAX4, NEUROD1
12response to drugGO:0424939.4KCNJ11, PAX4, NEUROD1, PDX1
13glucose metabolic processGO:0060069.4KCNJ11, INS, PDX1
14energy reserve metabolic processGO:0061129.3ABCC8, KCNJ11, INS
15nitric oxide mediated signal transductionGO:0072639.3PDX1, MAFA, NEUROD1
16positive regulation of transcription, DNA-templatedGO:0458939.2NEUROD1, HNF1B, HNF1A, HNF4A
17response to glucoseGO:0097498.8NEUROD1, MAFA, HNF1B, HNF4A
18glucose homeostasisGO:0425938.7INS, NEUROD1, HNF1A, HNF4A, PDX1, GCK
19regulation of insulin secretionGO:0507968.6ABCC8, KCNJ11, INS, NEUROD1, HNF4A, GCK
20insulin secretionGO:0300738.5NEUROD1, MAFA, HNF1B, HNF1A, PDX1
21small molecule metabolic processGO:0442818.4ABCC8, KCNJ11, INS, CEL, GCK, SLC19A2
22positive regulation of transcription from RNA polymerase II promoterGO:0459448.3NEUROD1, MAFA, HNF1B, HNF1A, HNF4A, PDX1
23endocrine pancreas developmentGO:0310187.8GCK, INS, PAX4, NEUROD1, IAPP, HNF1B

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II activating transcription factor bindingGO:0011029.8HNF4A, NEUROD1
2transcription regulatory region DNA bindingGO:0442129.4HNF4A, HNF1A, HNF1B
3protein homodimerization activityGO:0428038.3MAFA, HNF1B, HNF1A, HNF4A
4protein heterodimerization activityGO:0469828.2NEUROD1, MAFA, HNF1B, HNF1A, PDX1
5sequence-specific DNA bindingGO:0435658.0HNF4A, HNF1A, HNF1B, MAFA, NEUROD1, PAX4
6sequence-specific DNA binding transcription factor activityGO:0037007.7PAX4, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet