Aliases & Classifications for Monogenic Diabetes

MalaCards integrated aliases for Monogenic Diabetes:

Name: Monogenic Diabetes 49

Classifications:



Summaries for Monogenic Diabetes

NIH Rare Diseases : 49 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 hyperinsulinemic hypoglycemia, familial, 3. An important gene associated with Monogenic Diabetes is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. The drugs Glimepiride and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include testes, pancreas and pancreatic islet, 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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, permanent neonatal 31.4 ABCC8 GCK INS KCNJ11 PDX1 SLC19A2
2 hyperinsulinemic hypoglycemia, familial, 3 30.1 ABCC8 GCK
3 gestational diabetes 29.8 GCK HNF1A INS KCNJ11
4 hypoglycemia 29.3 ABCC8 GCK INS KCNJ11
5 hyperinsulinism 29.3 ABCC8 GCK HNF4A INS KCNJ11
6 hyperglycemia 28.3 ABCC8 GCK HNF1A IAPP INS KCNJ11
7 maturity-onset diabetes of the young 28.2 ABCC8 CEL GCK HNF1A HNF1B HNF4A
8 diabetes mellitus 27.5 ABCC8 GCK HNF1A HNF1B HNF4A IAPP
9 maturity-onset diabetes of the young, type 3 10.4 HNF1A INS
10 maturity-onset diabetes of the young, type 2 10.4 GCK INS
11 type 1 diabetes mellitus 11 10.4 HNF1A INS
12 renal cysts and diabetes syndrome 10.3 HNF1B HNF4A
13 intestinal atresia 10.3 GCK PDX1
14 fanconi-bickel syndrome 10.3 ABCC8 INS
15 cardiomyopathy, dilated, 1o 10.3 ABCC8 KCNJ11
16 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.3 ABCC8 KCNJ11
17 critical illness polyneuropathy 10.2 GCK INS
18 usher syndrome, type ic 10.2 ABCC8 KCNJ11
19 3-hydroxyacyl-coa dehydrogenase deficiency 10.2 GCK INS
20 cantu syndrome 10.2 ABCC8 KCNJ11
21 monocarboxylate transporter 1 deficiency 10.2 IAPP INS
22 munchausen by proxy 10.1 ABCC8 GCK KCNJ11
23 carbohydrate metabolic disorder 10.1 ABCC8 INS
24 acute insulin response 10.1 ABCC8 INS KCNJ11
25 pancreas disease 10.1 ABCC8 INS KCNJ11
26 diabetes mellitus, transient neonatal, 1 10.1 ABCC8 INS KCNJ11
27 alstrom syndrome 10.0 INS KCNJ11
28 aminoaciduria 10.0 HNF1A HNF4A
29 hyperinsulinemic hypoglycemia, familial, 2 9.9 ABCC8 HNF4A INS KCNJ11
30 pancreatitis 9.9
31 factitious disorder 9.9 ABCC8 GCK INS KCNJ11
32 endocrine pancreas disease 9.9 ABCC8 GCK INS KCNJ11
33 megaloblastic anemia 9.8
34 acquired metabolic disease 9.8 GCK IAPP INS KCNJ11
35 hyperinsulinemic hypoglycemia 9.7 ABCC8 GCK HNF4A INS KCNJ11
36 body mass index quantitative trait locus 14 9.7
37 body mass index quantitative trait locus 18 9.7
38 body mass index quantitative trait locus 11 9.7
39 aging 9.7
40 body mass index quantitative trait locus 9 9.7
41 body mass index quantitative trait locus 8 9.7
42 hypopituitarism 9.7
43 body mass index quantitative trait locus 4 9.7
44 renal dysplasia 9.7
45 body mass index quantitative trait locus 10 9.7
46 body mass index quantitative trait locus 7 9.7
47 hyperinsulinemic hypoglycemia, familial, 5 9.7
48 hyperinsulinemic hypoglycemia, familial, 4 9.7
49 body mass index quantitative trait locus 12 9.7
50 pancreatic agenesis 9.7 ABCC8 GCK INS KCNJ11 PDX1

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 PDX1 HNF1B SLC19A2 HNF4A ABCC8 IAPP
2 growth/size/body region MP:0005378 10.06 PDX1 HNF1B HNF4A IAPP ADPGK INS
3 endocrine/exocrine gland MP:0005379 10.02 PDX1 HNF1B ABCC8 INS GCK KCNJ11
4 adipose tissue MP:0005375 9.8 HNF1A ADPGK CEL INS KCNJ11
5 liver/biliary system MP:0005370 9.7 PDX1 HNF1B HNF4A INS CEL GCK
6 no phenotypic analysis MP:0003012 9.43 MAFA HNF1A PDX1 ABCC8 INS KCNJ11
7 renal/urinary system MP:0005367 9.1 PDX1 HNF1B INS GCK MAFA HNF1A

Drugs & Therapeutics for Monogenic Diabetes

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

(show all 31)
# 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 44147092
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, Investigational 7440-66-6 32051 23994
16
Insulin Lispro Approved 133107-64-9
17
Insulin Glargine Approved 160337-95-1
18
Insulin Aspart Approved 116094-23-6 16132418
19
Insulin Detemir Approved 169148-63-4 5311023
20
Adenosine Approved, Investigational 58-61-7 60961
21 Immunoglobulins
22 Antibodies
23 Autoantibodies
24 Insulin, Isophane
25 Isophane insulin, beef
26 Isophane Insulin, Human
27 Analgesics
28 Neurotransmitter Agents
29 Vasodilator Agents
30 Peripheral Nervous System Agents
31 arginine Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effects of GLP-1 in Maturity-Onset Diabetes of The Young (MODY) Completed NCT01610934 Phase 2, Phase 3 liraglutide;Glimepiride
2 Incretin Regulation of Insulin Secretion in Monogenic Diabetes Completed NCT01795144 Phase 1 GLP-1;Exendin 9-39
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 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
7 EXtremely Early-onset Type 1 Diabetes EXtremely Early-onset Type 1 Diabetes (A Musketeers' Memorandum Study) Recruiting NCT03369821
8 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:

38
Testes, Pancreas, Pancreatic Islet

Publications for Monogenic Diabetes

Articles related to Monogenic Diabetes:

(show top 50) (show all 102)
# Title Authors Year
1
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes. ( 29044608 )
2018
2
Clinical Management of Women with Monogenic Diabetes During Pregnancy. ( 29450745 )
2018
3
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA. ( 28938416 )
2017
4
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients. ( 28701371 )
2017
5
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes. ( 29183106 )
2017
6
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012. ( 28323911 )
2017
7
Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease. ( 28680642 )
2017
8
Evaluation of the Informational Content, Readability and Comprehensibility of Online Health Information on Monogenic Diabetes. ( 28951986 )
2017
9
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. ( 28597946 )
2017
10
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. ( 29207974 )
2017
11
Monogenic diabetes prevalence among Polish children-Summary of 11a88years-long nationwide genetic screening program. ( 28436179 )
2017
12
The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase II. ( 29020906 )
2017
13
Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer. ( 28556992 )
2017
14
Precision diabetes: learning from monogenic diabetes. ( 28314945 )
2017
15
Monogenic diabetes syndromes: Locus-specific databases for AlstrAPm, Wolfram, and Thiamine-responsive megaloblastic anemia. ( 28432734 )
2017
16
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel. ( 29120028 )
2017
17
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
18
Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. ( 27330718 )
2016
19
Monogenic diabetes: Implementation of translational genomic research towards precision medicine. ( 27390143 )
2016
20
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
21
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. ( 27486234 )
2016
22
Monogenic Diabetes: Not Your "Typical" Diabetes. ( 27491106 )
2016
23
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
24
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. ( 27106716 )
2016
25
Treating young adults with type 2 diabetes or monogenic diabetes. ( 27432078 )
2016
26
Practical Aspects of Monogenic Diabetes: A Clinical Point of View. ( 26897468 )
2016
27
Structure - Function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. ( 26853433 )
2016
28
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. ( 27271189 )
2016
29
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes. ( 27035557 )
2016
30
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. ( 25555642 )
2015
31
Monogenic diabetes: the treatment options. ( 25773279 )
2015
32
Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. ( 26109503 )
2015
33
Monogenic diabetes and pregnancy. ( 27512465 )
2015
34
New insights from monogenic diabetes for "common" type 2 diabetes. ( 26300908 )
2015
35
GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. ( 26043405 )
2015
36
Personalized Medicine: Monogenic Diabetes. ( 26390534 )
2015
37
Genetic testing for monogenic diabetes using targeted next-generation sequencing in the MODY cohort from Poland. ( 26552609 )
2015
38
An online monogenic diabetes discussion group: supporting families and fueling new research. ( 26184072 )
2015
39
What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity? ( 26599467 )
2015
40
[Functional characterization of two novel splicing mutations in glucokinase gene in monogenic diabetes MODY2]. ( 25850297 )
2014
41
The diagnosis and management of monogenic diabetes in children and adolescents. ( 25182307 )
2014
42
The variable faces of monogenic diabetes. ( 24330066 )
2014
43
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. ( 24476040 )
2014
44
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
45
Many faces of monogenic diabetes. ( 24843749 )
2014
46
Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes. ( 25082184 )
2014
47
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. ( 25136813 )
2014
48
Population-based estimates for double diabetes amongst people with glucokinase monogenic diabetes, GCK-MODY. ( 24660669 )
2014
49
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. ( 25306193 )
2014
50
Insights from monogenic diabetes and glycemic treatment goals for common types of diabetes. ( 24430318 )
2014

Variations for Monogenic Diabetes

ClinVar genetic disease variations for Monogenic Diabetes:

6
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 GCK HNF1A HNF1B HNF4A IAPP INS
2
Show member pathways
12.47 ABCC8 GCK INS KCNJ11 PDX1
3 12.2 HNF1A HNF4A INS MAFA PDX1
4
Show member pathways
11.83 GCK HNF1A HNF1B HNF4A INS PDX1
5 11.76 HNF1B INS PDX1
6
Show member pathways
11.76 GCK HNF1A HNF1B HNF4A IAPP INS
7
Show member pathways
11.26 ABCC8 GCK HNF1A HNF1B HNF4A INS
8 11.14 ABCC8 GCK HNF1A HNF4A INS KCNJ11
9 10.34 HNF1A HNF4A

GO Terms for Monogenic Diabetes

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

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 HNF1A HNF1B HNF4A MAFA PDX1
2 positive regulation of transcription, DNA-templated GO:0045893 9.85 HNF1A HNF1B HNF4A MAFA PDX1
3 liver development GO:0001889 9.65 HNF1A HNF1B PDX1
4 response to glucose GO:0009749 9.62 HNF1A HNF1B HNF4A MAFA
5 glycolytic process GO:0006096 9.59 ADPGK GCK
6 negative regulation of insulin secretion GO:0046676 9.58 ABCC8 KCNJ11
7 regulation of Wnt signaling pathway GO:0030111 9.57 HNF1A HNF1B
8 endocrine pancreas development GO:0031018 9.56 HNF1A PDX1
9 insulin secretion GO:0030073 9.56 HNF1A HNF1B MAFA PDX1
10 canonical glycolysis GO:0061621 9.55 ADPGK GCK
11 glucose homeostasis GO:0042593 9.55 GCK HNF1A HNF4A INS PDX1
12 nitric oxide mediated signal transduction GO:0007263 9.54 MAFA PDX1
13 cellular glucose homeostasis GO:0001678 9.52 ABCC8 GCK
14 positive regulation of glycogen biosynthetic process GO:0045725 9.51 GCK INS
15 negative regulation of gluconeogenesis GO:0045721 9.49 GCK INS
16 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.43 HNF1A HNF1B
17 detection of glucose GO:0051594 9.4 GCK PDX1
18 regulation of pronephros size GO:0035565 9.37 HNF1A HNF1B
19 regulation of insulin secretion GO:0050796 9.35 ABCC8 GCK HNF1A HNF4A KCNJ11
20 glucose metabolic process GO:0006006 9.02 ADPGK GCK INS KCNJ11 PDX1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.65 HNF1A HNF1B HNF4A MAFA PDX1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 HNF1A HNF4A MAFA PDX1
3 phosphotransferase activity, alcohol group as acceptor GO:0016773 9.16 ADPGK GCK
4 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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