MCID: MNG006
MIFTS: 42

Monogenic Diabetes malady

Rare diseases category

Summaries for Monogenic Diabetes

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 diabetes mellitus. 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:66 Maturity onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes caused... more...

Aliases & Classifications for Monogenic Diabetes

About this section
Sources:
44NIH Rare Diseases
See all sources

Classifications:

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


Aliases & Descriptions:

monogenic diabetes 44


Related Diseases for Monogenic Diabetes

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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
2diabetes mellitus30.1SLC19A2, GCK, PDX1, HNF4A, HNF1A, HNF1B
3hypoglycemia30.0IAPP, GCK, HNF4A, INS, KCNJ11, ABCC8
4maturity-onset diabetes of the young29.8KCNJ11, INS, PAX4, NEUROD1, HNF1B, HNF1A
5hyperglycemia29.6NEUROD1, PAX4, INS, KCNJ11, ABCC8, IAPP
6pancreatic agenesis10.1PDX1
7hypopituitarism10.1
8pancreatitis10.1
9renal dysplasia10.1
10diabetic ketoacidosis10.1INS
11exocrine pancreatic insufficiency10.0CEL
12familial hyperinsulinism10.0ABCC8, GCK, KCNJ11
13hyperinsulinemic hypoglycemia10.0ABCC8, INS
14hyperammonemia multi-gene panels10.0ABCC8, GCK, KCNJ11
15type 2 diabetes mellitus10.0HNF4A, HNF1B
16polycystic kidney disease, autosomal recessive10.0HNF1B, HNF1A
17type 1 diabetes mellitus10.0HNF4A, HNF1A, INS, GCK
18hyperinsulinism10.0GCK, INS, ABCC8, KCNJ11
19cystic fibrosis10.0INS, ABCC8, KCNJ11
20hyperuricemia10.0HNF1B, INS, GCK
21diabetic nephropathy9.9INS, IAPP, HNF1B
22glucose intolerance9.9GCK, PDX1, IAPP, PAX4, INS
23metabolic syndrome x9.9ABCC8, IAPP, INS, GCK, HNF4A
24diabetes mellitus, noninsulin-dependent9.9HNF1B, ABCC8, HNF4A, NEUROD1
25pancreatic cancer9.9HNF4A, INS, IAPP, PDX1, CEL
26primary hyperoxaluria9.9HNF4A, HNF1A, HNF1B, INS, IAPP
27galactosemia9.9HNF1B, INS, HNF4A
28hepatocellular carcinoma9.9HNF4A, HNF1B, INS, HNF1A
29gestational diabetes9.9HNF4A, GCK, KCNJ11, ABCC8, INS, IAPP
30obesity9.9ABCC8, GCK, HNF4A, HNF1A, INS, KCNJ11
31neonatal diabetes mellitus9.9KCNJ11, INS, HNF1B, PDX1, GCK, ABCC8
32adenocarcinoma9.8HNF1B, HNF4A, PDX1, CEL, IAPP, NEUROD1
33insulin resistance9.8INS, HNF4A, HNF1B, HNF1A, IAPP, PAX4
34insulinoma9.8ABCC8, 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

About this section

Drugs & Therapeutics for Monogenic Diabetes

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Monogenic Diabetes

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

About this section

Anatomical Context for Monogenic Diabetes

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Monogenic Diabetes:

34
Testes, Pancreas

Animal Models for Monogenic Diabetes or affiliated genes

About this section
Sources:
38MGI
See all sources

Publications for Monogenic Diabetes

About this section
Sources:
53PubMed
See all sources

Articles related to Monogenic Diabetes:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Insights from monogenic diabetes and glycemic treatment goals for common types of diabetes. (24430318)
2014
2
The variable faces of monogenic diabetes. (24330066)
2014
3
Monogenic diabetes: old and new approaches to diagnosis. (23760703)
2013
4
Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA1c level. (24102923)
2013
5
Family history in the diagnosis of monogenic diabetes "leads and misleads". (24121389)
2013
6
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. (23624530)
2013
7
Development of an economic evaluation of diagnostic strategies: the case of monogenic diabetes. (23793674)
2013
8
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. (23771172)
2013
9
Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. (22035297)
2012
10
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. (22498247)
2012
11
The role of pancreatic imaging in monogenic diabetes mellitus. (22124438)
2012
12
Monogenic diabetes in a family with 2 unknown HNF-4A gene mutations. (21922456)
2012
13
Monogenic diabetes mellitus due to defects in insulin secretion. (23037711)
2012
14
Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign. (22782286)
2012
15
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population. (21348868)
2012
16
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. (21051477)
2011
17
Review on monogenic diabetes. (21844708)
2011
18
Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. (21537110)
2011
19
Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes. (21193618)
2011
20
Genetics in the real world: resources for pediatric nurses using monogenic diabetes as an exemplar. (21930042)
2011
21
Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire, UK. (21350841)
2011
22
Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes. (21183721)
2011
23
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (19760265)
2010
24
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. (20065546)
2010
25
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). (19903754)
2010
26
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro. (20546279)
2010
27
Type 2 diabetes, medication-induced diabetes, and monogenic diabetes in Canadian children: a prospective national surveillance study. (20067956)
2010
28
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. (20546258)
2010
29
If It's Not Type 1 or Type 2 Diabetes, It May be Monogenic Diabetes. (22478834)
2010
30
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
31
Functional targets of the monogenic diabetes transcription factors HNF-1alpha and HNF-4alpha are highly conserved between mice and humans. (19188435)
2009
32
Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. (19900242)
2009
33
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
34
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. (19566570)
2009
35
The diagnosis and management of monogenic diabetes in children and adolescents. (19754616)
2009
36
Diagnosing monogenic diabetes: common misinterpretations of genetic findings. (19732375)
2009
37
The clinical application of non-genetic biomarkers for differential diagnosis of monogenic diabetes. (20115926)
2009
38
A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. (19228875)
2009
39
Mutations in MAFA and IAPP are not a common cause of monogenic diabetes. (19573128)
2009
40
RNA processing and mRNA surveillance in monogenic diabetes. (19787084)
2008
41
Monogenic diabetes: implications for therapy of rare types of disease. (17488343)
2008
42
Our evolving understanding of monogenic diabetes: possibilities of improving glycaemic control following transfer from insulin to sulphonylureas. (18684428)
2008
43
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. (18436708)
2008
44
The rare syndromic forms of monogenic diabetes in childhood]. (18577346)
2008
45
ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. (17212604)
2006
46
Defining the genetic aetiology of monogenic diabetes can improve treatment. (16925503)
2006
47
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
48
Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient. (17186387)
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

About this section

Expression for genes affiliated with Monogenic Diabetes

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 61Thomson Reuters, 54QIAGEN, 56Reactome, 39NCBI BioSystems Database, 5Cell Signaling Technology, 31KEGG, 13EMD Millipore, 52PharmGKB
See all sources

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

About this section
Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB, 62Tocris Bioscience
See all sources

Compounds related to Monogenic Diabetes according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1cibenzoline4610.2ABCC8, KCNJ11
2nnmt4610.1HNF1A, HNF1B
3nicorandil46 3011.0KCNJ11, ABCC8
4polyphosphate4610.0ADPGK, GCK
5mgadp4610.0KCNJ11, ABCC8
6phosphoenolpyruvate46 1211.0HNF4A, HNF1A, GCK
7chromium picolinate469.9INS, GCK
8exenatide46 1210.8INS, IAPP
9liraglutide46 30 1211.8INS, IAPP
10cromakalim46 3010.8KCNJ11, ABCC8
11meglitinide469.8ABCC8, INS
12sitagliptin46 1210.7IAPP, INS
13mitiglinide46 1210.7ABCC8, INS
14pyruvate469.7PDX1, HNF1A, GCK, HNF4A
15preproinsulin469.7INS, GCK, PDX1
16glipizide46 52 1211.6ABCC8, INS
17acarbose46 1210.6INS, IAPP
18gliclazide46 52 1211.5INS, ABCC8, KCNJ11
19glimepiride46 52 1211.5KCNJ11, ABCC8, INS
20i-app469.4GCK, PDX1, IAPP, INS
21incretin469.4INS, PDX1, IAPP, GCK
22streptozotocin469.4INS, IAPP, PDX1, GCK
23leucine469.4KCNJ11, HNF4A, ABCC8, HNF1A, GCK
24potassium46 25 1211.4HNF1A, GCK, KCNJ11, ABCC8
25nicotinamide46 1210.3INS, PDX1, HNF1B
26myristic acid46 25 1211.3INS, HNF4A, CEL
27chlorpropamide46 52 1211.3ABCC8, INS
28diazoxide46 62 30 1212.3GCK, INS, KCNJ11, ABCC8
29glibenclamide46 30 52 6212.3KCNJ11, INS, IAPP, ABCC8
30glycerol46 25 1211.3INS, HNF4A, GCK, CEL
31tolbutamide46 30 52 1212.1HNF1A, GCK, INS, KCNJ11, ABCC8
32glycogen46 2510.0INS, HNF4A, GCK, ABCC8, IAPP
33dexamethasone46 52 30 1212.0HNF4A, INS, IAPP, HNF1A, GCK
34metformin46 52 1211.0KCNJ11, IAPP, GCK, ABCC8, INS
35katp469.0PDX1, GCK, INS, KCNJ11, ABCC8
36proline468.9CEL, HNF1A, IAPP, PDX1
37retinoic acid46 259.9GCK, HNF4A, NEUROD1, HNF1B, HNF1A, PDX1
38atp46 309.8KCNJ11, HNF4A, ADPGK, ABCC8, IAPP, GCK
39glutamate468.7KCNJ11, ABCC8, GCK, HNF4A, INS
40fatty acid468.6ABCC8, INS, CEL, HNF1A, HNF4A, GCK
41c-peptide468.6KCNJ11, HNF1A, INS, GCK, HNF4A, IAPP
42repaglinide52 46 1210.6KCNJ11, INS, PAX4, NEUROD1, IAPP, ABCC8
43oligonucleotide468.6GCK, HNF4A, HNF1A, HNF1B, CEL, PDX1
44sulfonylurea468.5ABCC8, KCNJ11, INS, IAPP, HNF1A, PDX1
45lipid468.3INS, IAPP, CEL, HNF1A, HNF4A, GCK
46arginine468.2KCNJ11, IAPP, ABCC8, HNF1B, HNF4A, GCK
47serine468.2CEL, IAPP, ABCC8, HNF4A, PDX1, GCK
48calcium46 52 25 1211.2ABCC8, NEUROD1, IAPP, KCNJ11, CEL, HNF4A
49cholesterol46 30 25 1210.9GCK, HNF4A, CEL, HNF1A, ABCC8, INS
50glucose465.4SLC19A2, HNF4A, PAX4, NEUROD1, ADPGK, IAPP

GO Terms for genes affiliated with Monogenic Diabetes

About this section
Sources:
17Gene Ontology
See all sources

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:0011029.8NEUROD1, HNF4A
2transcription regulatory region DNA bindingGO:0442129.4HNF4A, HNF1A, HNF1B
3protein homodimerization activityGO:0428038.3HNF4A, HNF1A, HNF1B, MAFA
4protein heterodimerization activityGO:0469828.2HNF1A, HNF1B, MAFA, PDX1, NEUROD1
5sequence-specific DNA bindingGO:0435658.0HNF4A, HNF1B, HNF1A, NEUROD1, PAX4, MAFA
6sequence-specific DNA binding transcription factor activityGO:0037007.7MAFA, PDX1, HNF4A, HNF1A, PAX4, HNF1B

Products for genes affiliated with Monogenic Diabetes

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Monogenic Diabetes

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet