MCID: MNG006
MIFTS: 35

Monogenic Diabetes malady

Categories: Rare diseases

Aliases & Classifications for Monogenic Diabetes

Aliases & Descriptions for Monogenic Diabetes:

Name: Monogenic Diabetes 50

Classifications:



Summaries for Monogenic Diabetes

NIH Rare Diseases : 50 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 maturity-onset diabetes of the young. An important gene associated with Monogenic Diabetes is GCK (Glucokinase), and among its related pathways/superpathways are Developmental Biology and Glucose / Energy Metabolism. The drugs Glimepiride and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include testes and pancreas, and related phenotypes are homeostasis/metabolism and growth/size/body region

Related Diseases for Monogenic Diabetes

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

(show all 42)
id Related Disease Score Top Affiliating Genes
1 diabetes mellitus, permanent neonatal 11.5
2 maturity-onset diabetes of the young 10.8
3 diaphanospondylodysostosis 10.2 ABCC8 GCK
4 pleuropulmonary blastoma 10.2 HNF1A INS
5 biliary cirrhosis, primary, 5 10.2 HNF1B HNF4A
6 noonan syndrome 3 10.2 ABCC8 KCNJ11
7 ritscher-schinzel syndrome 2 10.1 ABCC8 KCNJ11
8 alopecia-mental retardation syndrome 2 10.1 ABCC8 INS
9 nosophobia 10.1 ABCC8 GCK KCNJ11
10 orbital granuloma 10.1 GCK PDX1
11 fanconi anemia, complementation group f 10.1 ABCC8 KCNJ11
12 autoimmune disease 1 10.1 ABCC8 INS KCNJ11
13 deafness, autosomal recessive 66 10.1 ABCC8 INS KCNJ11
14 chondroma 10.1 ABCC8 INS KCNJ11
15 hemorrhagic fever 10.1 ABCC8 KCNJ11
16 labyrinthine unilateral reactive loss 10.0 ABCC8 GCK INS KCNJ11
17 antidepressant type abuse 10.0 GCK HNF1A INS KCNJ11
18 neurogenic arthropathy 10.0 ABCC8 GCK INS KCNJ11
19 chudley-mccullough syndrome 9.9 IAPP INS
20 maturity-onset diabetes of the young, type 13 9.9 ABCC8 GCK HNF4A INS KCNJ11
21 diabetic cataract 9.9 ABCC8 GCK HNF4A INS KCNJ11
22 exostosis 9.9 ABCC8 GCK HNF4A INS KCNJ11
23 non-syndromic intellectual disability 9.9 ABCC8 GCK INS KCNJ11 PDX1
24 gestational diabetes 9.9
25 peroneal neuropathy 9.8 ABCC8 GCK IAPP INS KCNJ11
26 body dysmorphic disorder 9.8 ABCC8 GCK IAPP INS KCNJ11
27 ischemic heart disease 9.8 ABCC8 GCK IAPP INS PDX1
28 distal muscular dystrophy 9.7 ABCC8 GCK HNF1B INS KCNJ11 PDX1
29 focal segmental glomerulosclerosis 8 9.6 ABCC8 GCK INS KCNJ11 PDX1 SLC19A2
30 obesity 9.6
31 megaloblastic anemia 9.6
32 hyperinsulinism 9.6
33 hyperglycemia 9.6
34 pancreatitis 9.6
35 hypopituitarism 9.6
36 hypoglycemia 9.6
37 renal dysplasia 9.6
38 brain stem glioma 9.6 ABCC8 GCK HNF1A IAPP INS KCNJ11
39 maturity-onset diabetes of the young 6 9.3 ABCC8 GCK HNF1A HNF1B HNF4A IAPP
40 diabetes mellitus, insulin-dependent, 20 9.2 GCK HNF1A HNF1B HNF4A IAPP INS
41 congenital stationary night blindness 9.1 ABCC8 CEL GCK HNF1A HNF1B HNF4A
42 mosaic trisomy 13 8.4 ABCC8 ADPGK CEL GCK HNF1A HNF1B

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



Diseases related to Monogenic Diabetes

Symptoms & Phenotypes for Monogenic Diabetes

MGI Mouse Phenotypes related to Monogenic Diabetes:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 ABCC8 ADPGK CEL GCK HNF1A HNF1B
2 growth/size/body region MP:0005378 10.06 ADPGK CEL GCK HNF1A HNF1B HNF4A
3 endocrine/exocrine gland MP:0005379 10.02 INS KCNJ11 MAFA PDX1 SLC19A2 ABCC8
4 adipose tissue MP:0005375 9.8 ADPGK CEL HNF1A INS KCNJ11
5 liver/biliary system MP:0005370 9.7 CEL GCK HNF1A HNF1B HNF4A INS
6 no phenotypic analysis MP:0003012 9.43 ABCC8 HNF1A INS KCNJ11 MAFA PDX1
7 renal/urinary system MP:0005367 9.1 GCK HNF1A HNF1B INS MAFA PDX1

Drugs & Therapeutics for Monogenic Diabetes

Drugs for Monogenic Diabetes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glimepiride Approved Phase 2, Phase 3 93479-97-1 3476
2
Liraglutide Approved Phase 2, Phase 3 204656-20-2
3 Glucagon-Like Peptide 1 Phase 2, Phase 3,Phase 1
4 Hormone Antagonists Phase 2, Phase 3,Phase 1
5 Hormones Phase 2, Phase 3,Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
7 Anti-Arrhythmia Agents Phase 2, Phase 3
8 Hypoglycemic Agents Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Incretins Phase 2, Phase 3,Phase 1
11 insulin Phase 1
12 Insulin, Globin Zinc Phase 1
13 glucagon Phase 1
14 Gastrointestinal Agents Phase 1
15
Zinc Approved 7440-66-6 32051 23994
16
Insulin Aspart Approved 116094-23-6 16132418
17
Insulin Glargine Approved 160337-95-1
18
Insulin Detemir Approved 169148-63-4 5311023
19
Insulin Lispro Approved 133107-64-9
20
Adenosine Approved, Investigational 58-61-7 60961
21 Immunoglobulins
22 Antibodies
23 Autoantibodies
24 Insulin, Isophane
25 Isophane Insulin, Human
26 Isophane insulin, beef
27 Analgesics
28 Neurotransmitter Agents
29 Peripheral Nervous System Agents
30 Vasodilator Agents
31 arginine Nutraceutical

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 The Effects of GLP-1 in Maturity-Onset Diabetes of The Young (MODY) Completed NCT01610934 Phase 2, Phase 3
2 Incretin Regulation of Insulin Secretion in Monogenic Diabetes Completed NCT01795144 Phase 1
3 Identification and Characterization of Monogenic Diabetes Unknown status NCT01481623
4 Predisposition Genes in Monogenic Diabetes (DIAMONO) Completed NCT02634229
5 Using Pharmacogenetics to Improve Treatment in Early-onset Diabetes Completed NCT01238380
6 Adipocyte, Insulin-resistance and Immunity : Evaluation of Interleukin-7 in Lipodystrophy, Diabetes and Obesity Completed NCT01784289
7 GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus Completed NCT01992666
8 Impact on Birth Weight of Two Therapeutic Strategies (Insulin Therapy From the Beginning of Pregnancy vs. Insulin Therapy Initiated According to Fetal Growth Evaluated by Ultrasonography Measurements) in Pregnant Women With Monogenic Diabetes Recruiting NCT02556840
9 The Verona Newly Diagnosed Type 2 Diabetes Study Recruiting NCT01526720
10 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
11 Gene Study for Infantile Onset Diabetes Not yet recruiting NCT03169413

Search NIH Clinical Center for Monogenic Diabetes

Genetic Tests for Monogenic Diabetes

Anatomical Context for Monogenic Diabetes

MalaCards organs/tissues related to Monogenic Diabetes:

39
Testes, Pancreas

Publications for Monogenic Diabetes

Articles related to Monogenic Diabetes:

(show top 50) (show all 86)
id Title Authors Year
1
Practical Aspects of Monogenic Diabetes: A Clinical Point of View. ( 26897468 )
2016
2
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G. ( 28004468 )
2016
3
Comment on Rudland et al. Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. Diabetes Care 2016;39:50-52. ( 26696667 )
2016
4
Monogenic Diabetes: Not Your "Typical" Diabetes. ( 27491106 )
2016
5
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes. ( 27035557 )
2016
6
Treating young adults with type 2 diabetes or monogenic diabetes. ( 27432078 )
2016
7
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. ( 27106716 )
2016
8
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. ( 27486234 )
2016
9
Structure - Function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. ( 26853433 )
2016
10
Monogenic diabetes: Implementation of translational genomic research towards precision medicine. ( 27390143 )
2016
11
Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. ( 27330718 )
2016
12
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. ( 27271189 )
2016
13
A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among multi-ethnic Asians. ( 27420379 )
2016
14
Monogenic diabetes and pregnancy. ( 27512465 )
2015
15
What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity? ( 26599467 )
2015
16
Monogenic diabetes: the treatment options. ( 25773279 )
2015
17
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. ( 25555642 )
2015
18
New insights from monogenic diabetes for "common" type 2 diabetes. ( 26300908 )
2015
19
Genetic testing for monogenic diabetes using targeted next-generation sequencing in the MODY cohort from Poland. ( 26552609 )
2015
20
Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. ( 26109503 )
2015
21
GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. ( 26043405 )
2015
22
An online monogenic diabetes discussion group: supporting families and fueling new research. ( 26184072 )
2015
23
Personalized Medicine: Monogenic Diabetes. ( 26390534 )
2015
24
Many faces of monogenic diabetes. ( 24843749 )
2014
25
Population-based estimates for double diabetes amongst people with glucokinase monogenic diabetes, GCK-MODY. ( 24660669 )
2014
26
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
27
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. ( 24476040 )
2014
28
The variable faces of monogenic diabetes. ( 24330066 )
2014
29
[Functional characterization of two novel splicing mutations in glucokinase gene in monogenic diabetes MODY2]. ( 25850297 )
2014
30
Insights from monogenic diabetes and glycemic treatment goals for common types of diabetes. ( 24430318 )
2014
31
Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes. ( 25082184 )
2014
32
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. ( 25306193 )
2014
33
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. ( 25136813 )
2014
34
The diagnosis and management of monogenic diabetes in children and adolescents. ( 25182307 )
2014
35
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. ( 23624530 )
2013
36
Monogenic diabetes: a diagnostic algorithm for clinicians. ( 24705260 )
2013
37
Development of an economic evaluation of diagnostic strategies: the case of monogenic diabetes. ( 23793674 )
2013
38
Monogenic diabetes: old and new approaches to diagnosis. ( 23760703 )
2013
39
Family history in the diagnosis of monogenic diabetes "leads and misleads". ( 24121389 )
2013
40
Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA1c level. ( 24102923 )
2013
41
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. ( 23771172 )
2013
42
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. ( 22498247 )
2012
43
Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. ( 22035297 )
2012
44
Monogenic diabetes in a family with 2 unknown HNF-4A gene mutations. ( 21922456 )
2012
45
Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign. ( 22782286 )
2012
46
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population. ( 21348868 )
2012
47
The role of pancreatic imaging in monogenic diabetes mellitus. ( 22124438 )
2012
48
Monogenic diabetes mellitus due to defects in insulin secretion. ( 23037711 )
2012
49
Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes. ( 21193618 )
2011
50
Genetics in the real world: resources for pediatric nurses using monogenic diabetes as an exemplar. ( 21930042 )
2011

Variations for Monogenic Diabetes

ClinVar genetic disease variations for Monogenic Diabetes:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HNF1A NM_000545.6(HNF1A): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs137853238 GRCh37 Chromosome 12, 121432068: 121432068
2 GCK NM_000162.3(GCK): c.1253+2T> A single nucleotide variant Pathogenic rs1057524902 GRCh37 Chromosome 7, 44185094: 44185094
3 GCK NM_000162.3(GCK): c.1016A> G (p.Glu339Gly) single nucleotide variant Pathogenic rs1057524903 GRCh37 Chromosome 7, 44186065: 44186065
4 GCK NM_000162.3(GCK): c.680-1G> A single nucleotide variant Pathogenic rs1057524905 GRCh37 Chromosome 7, 44187433: 44187433
5 HNF1A NM_000545.6(HNF1A): c.694dupC (p.Leu232Profs) duplication Pathogenic rs1057524908 GRCh37 Chromosome 12, 121431490: 121431490

Expression for Monogenic Diabetes

Search GEO for disease gene expression data for Monogenic Diabetes.

Pathways for Monogenic Diabetes

GO Terms for Monogenic Diabetes

Cellular components related to Monogenic Diabetes according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATP-sensitive potassium channel complex GO:0008282 8.62 ABCC8 KCNJ11

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.98 HNF1A HNF1B HNF4A MAFA PDX1
2 transcription from RNA polymerase II promoter GO:0006366 9.91 HNF1A HNF4A MAFA PDX1
3 positive regulation of transcription, DNA-templated GO:0045893 9.85 HNF1A HNF1B HNF4A MAFA PDX1
4 response to drug GO:0042493 9.8 ABCC8 HNF1B KCNJ11 PDX1
5 liver development GO:0001889 9.65 HNF1A HNF1B PDX1
6 glucose homeostasis GO:0042593 9.65 GCK HNF1A HNF4A INS PDX1
7 insulin secretion GO:0030073 9.62 HNF1A HNF1B MAFA PDX1
8 glucose transport GO:0015758 9.6 GCK INS
9 glycolytic process GO:0006096 9.59 ADPGK GCK
10 negative regulation of insulin secretion GO:0046676 9.58 ABCC8 KCNJ11
11 endocrine pancreas development GO:0031018 9.57 HNF1A PDX1
12 regulation of Wnt signaling pathway GO:0030111 9.56 HNF1A HNF1B
13 nitric oxide mediated signal transduction GO:0007263 9.55 MAFA PDX1
14 response to glucose GO:0009749 9.55 HNF1A HNF1B HNF4A MAFA PDX1
15 cellular glucose homeostasis GO:0001678 9.54 ABCC8 GCK
16 positive regulation of glycogen biosynthetic process GO:0045725 9.52 GCK INS
17 negative regulation of gluconeogenesis GO:0045721 9.51 GCK INS
18 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.43 HNF1A HNF1B
19 detection of glucose GO:0051594 9.4 GCK PDX1
20 regulation of pronephros size GO:0035565 9.37 HNF1A HNF1B
21 regulation of insulin secretion GO:0050796 9.35 ABCC8 GCK HNF1A HNF4A KCNJ11
22 glucose metabolic process GO:0006006 9.02 ADPGK GCK INS KCNJ11 PDX1

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.77 HNF1A HNF1B HNF4A MAFA PDX1
2 protein heterodimerization activity GO:0046982 9.62 HNF1A HNF1B MAFA PDX1
3 sequence-specific DNA binding GO:0043565 9.55 HNF1A HNF1B HNF4A MAFA PDX1
4 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.26 ADPGK GCK
5 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.13 HNF1B HNF4A PDX1
6 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11

Sources for Monogenic Diabetes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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