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Monogenic Diabetes

Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Monogenic Diabetes

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MalaCards integrated aliases for Monogenic Diabetes:

Name: Monogenic Diabetes 53 6

Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Monogenic Diabetes

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NIH Rare Diseases : 53 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 .

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 Aldosterone synthesis and secretion. The drugs Liraglutide and Glimepiride have been mentioned in the context of this disorder. Affiliated tissues include testes, pancreas and pancreatic islet, and related phenotypes are shRNA abundance <= 50% and homeostasis/metabolism

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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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, permanent neonatal 31.7 ABCC8 GATA6 GCK INS KCNJ11 PDX1
2 maturity-onset diabetes of the young 31.2 ABCC8 CEL GCK HNF1A HNF4A INS
3 gestational diabetes 30.0 GCK HNF4A INS KCNJ11
4 hyperinsulinemic hypoglycemia, familial, 3 30.0 ABCC8 GCK
5 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.8 BSCL2 INS
6 hyperinsulinism 29.7 ABCC8 GCK HNF4A INS KCNJ11
7 hypoglycemia 29.6 ABCC8 GCK INS KCNJ11
8 hyperglycemia 29.3 ABCC8 GCK HNF1A INS KCNJ11 PDX1
9 diabetes mellitus 28.9 ABCC8 GATA6 GCK HNF1A HNF4A INS
10 intestinal atresia 10.2 GCK PDX1
11 cardiomyopathy, dilated, 1o 10.2 ABCC8 KCNJ11
12 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.2 ABCC8 KCNJ11
13 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.2 CEL HNF4A
14 hyperinsulinemic hypoglycemia, familial, 2 10.2 HNF4A KCNJ11
15 type 1 diabetes mellitus 11 10.1 HNF1A INS
16 hirata disease 10.1 ABCC8 INS
17 maturity-onset diabetes of the young, type 14 10.1 ABCC8 GCK HNF1A
18 insulinomatosis and diabetes mellitus 10.1 ABCC8 INS
19 maturity-onset diabetes of the young, type 9 10.1 INS PAX4
20 fanconi-bickel syndrome 10.1 ABCC8 INS
21 cantu syndrome 10.1 ABCC8 KCNJ11
22 maturity-onset diabetes of the young, type 10 10.1 INS KCNJ11
23 munchausen by proxy 10.1 ABCC8 GCK KCNJ11
24 usher syndrome, type ic 10.1 ABCC8 KCNJ11
25 pancreatic cystadenoma 10.1 INS PDX1
26 autosomal genetic disease 10.1 GCK HNF1A INS
27 diabetes mellitus, ketosis-prone 10.1 INS PAX4
28 complete generalized lipodystrophy 10.0 BSCL2 INS
29 aminoaciduria 10.0 HNF1A HNF4A
30 maturity-onset diabetes of the young, type 4 10.0 GCK HNF1A HNF4A PDX1
31 renal cysts and diabetes syndrome 10.0 GCK HNF1A HNF4A PDX1
32 lipodystrophy, congenital generalized, type 1 10.0 BSCL2 INS
33 pancreas disease 10.0 ABCC8 INS KCNJ11
34 alstrom syndrome 10.0 INS KCNJ11
35 acute insulin response 10.0 ABCC8 INS KCNJ11
36 diabetes mellitus, transient neonatal, 1 10.0 ABCC8 INS KCNJ11
37 carbohydrate metabolic disorder 10.0 ABCC8 INS
38 megaloblastic anemia 10.0
39 familial partial lipodystrophy 10.0 BSCL2 INS
40 insulinoma 9.9 ABCC8 GCK INS PDX1
41 endocrine pancreas disease 9.9 ABCC8 GCK INS KCNJ11
42 glucose metabolism disease 9.9 ABCC8 GCK INS KCNJ11
43 maturity-onset diabetes of the young, type 2 9.9 GCK HNF1A HNF4A INS PDX1
44 maturity-onset diabetes of the young, type 3 9.9 GCK HNF1A HNF4A INS PDX1
45 maturity-onset diabetes of the young, type 7 9.9 GCK HNF1A HNF4A INS PDX1
46 hyperinsulinemic hypoglycemia 9.8 ABCC8 GCK HNF4A INS KCNJ11
47 diabetes mellitus, insulin-dependent 9.8 GCK HNF1A INS PAX4 PDX1
48 cystic fibrosis 9.8
49 hyperinsulinemic hypoglycemia, familial, 5 9.8
50 hyperinsulinemic hypoglycemia, familial, 4 9.8

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



Diseases related to Monogenic Diabetes
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Symptoms & Phenotypes for Monogenic Diabetes

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GenomeRNAi Phenotypes related to Monogenic Diabetes according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.28 CEL GATA6 GCK HNF1A HNF4A KCNJ11

MGI Mouse Phenotypes related to Monogenic Diabetes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 ABCC8 BSCL2 CEL GATA6 GCK HNF1A
2 growth/size/body region MP:0005378 10.06 BSCL2 CEL GATA6 GCK HNF1A HNF4A
3 endocrine/exocrine gland MP:0005379 10.02 ABCC8 BSCL2 GCK HNF1A INS KCNJ11
4 adipose tissue MP:0005375 9.91 BSCL2 CEL HNF1A INS KCNJ11 MC4R
5 digestive/alimentary MP:0005381 9.88 BSCL2 CEL HNF1A INS PDX1 SLC19A2
6 liver/biliary system MP:0005370 9.81 BSCL2 CEL GATA6 GCK HNF1A HNF4A
7 mortality/aging MP:0010768 9.65 BSCL2 GATA6 GCK HNF1A HNF4A INS
8 no phenotypic analysis MP:0003012 9.17 ABCC8 BSCL2 HNF1A INS KCNJ11 MC4R
Sources

Drugs & Therapeutics for Monogenic Diabetes

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
2
Glimepiride Approved Phase 2, Phase 3 93479-97-1 3476
3 Hypoglycemic Agents Phase 2, Phase 3,Not Applicable
4 Hormone Antagonists Phase 2, Phase 3,Phase 1
5 Immunosuppressive Agents Phase 2, Phase 3
6 Incretins Phase 2, Phase 3,Phase 1
7 Anti-Arrhythmia Agents Phase 2, Phase 3
8 Hormones Phase 2, Phase 3,Phase 1
9 Immunologic Factors Phase 2, Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
11 Glucagon-Like Peptide 1 Phase 2, Phase 3,Phase 1
12 insulin Phase 1,Not Applicable
13 Insulin, Globin Zinc Phase 1,Not Applicable
14 Gastrointestinal Agents Phase 1
15 glucagon Phase 1
16
Insulin Detemir Approved Not Applicable 169148-63-4 5311023
17
Zinc Approved, Investigational Not Applicable 7440-66-6
18
Insulin Glargine Approved Not Applicable 160337-95-1
19
Insulin Lispro Approved Not Applicable 133107-64-9
20
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
21
Adenosine Approved, Investigational 58-61-7 60961
22 arginine Not Applicable
23 Antibodies
24 Immunoglobulins
25 Autoantibodies
26 Isophane Insulin, Human Not Applicable
27 Insulin, Isophane Not Applicable
28 Isophane insulin, beef Not Applicable
29 Vasodilator Agents
30 Neurotransmitter Agents
31 Peripheral Nervous System Agents
32 Analgesics

Interventional clinical trials:

(show all 11)
# 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 Not Applicable
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 Not Applicable
7 Genetic Causes of Gestational Diabetes in the Emirati Population Recruiting NCT03589092
8 Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus Recruiting NCT00339885
9 EXtremely Early-onset Type 1 Diabetes EXtremely Early-onset Type 1 Diabetes (A Musketeers' Memorandum Study) Recruiting NCT03369821
10 Application of UCPCR as a Testing Tool for Identification of MODY Patients in the UAE Active, not recruiting NCT03607604
11 Gene Study for Infantile Onset Diabetes Not yet recruiting NCT03169413

Search NIH Clinical Center for Monogenic Diabetes

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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:

41
Testes, Pancreas, Pancreatic Islet
Sources

Publications for Monogenic Diabetes

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Articles related to Monogenic Diabetes:

(show top 50) (show all 114)
# Title Authors Year
1
Monogenic diabetes in adults: what are the new developments? ( 29734081 )
2018
2
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes. ( 29044608 )
2018
3
Clinical Management of Women with Monogenic Diabetes During Pregnancy. ( 29450745 )
2018
4
Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options. ( 29931562 )
2018
5
Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial. ( 29758564 )
2018
6
Monogenic diabetes: the impact of making the right diagnosis. ( 29846255 )
2018
7
Monogenic diabetes mellitus in cystic fibrosis. ( 30269055 )
2018
8
Monogenic diabetes prevalence among Polish children-Summary of 11 years-long nationwide genetic screening program. ( 28436179 )
2018
9
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes. ( 29183106 )
2018
10
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. ( 30225972 )
2018
11
Genetics of Monogenic Diabetes: Present Clinical Challenges. ( 30377832 )
2018
12
Zinc Transporter 8 Autoantibodies (ZnT8A) and a Type 1 Diabetes Genetic Risk Score Can Exclude Individuals With Type 1 Diabetes From Inappropriate Genetic Testing for Monogenic Diabetes. ( 30409810 )
2018
13
Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry. ( 30535721 )
2018
14
The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase II. ( 29020906 )
2017
15
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. ( 28597946 )
2017
16
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012. ( 28323911 )
2017
17
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. ( 29207974 )
2017
18
Monogenic diabetes syndromes: Locus-specific databases for AlstrAPm, Wolfram, and Thiamine-responsive megaloblastic anemia. ( 28432734 )
2017
19
Precision diabetes: learning from monogenic diabetes. ( 28314945 )
2017
20
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA. ( 28938416 )
2017
21
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel. ( 29120028 )
2017
22
Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease. ( 28680642 )
2017
23
Evaluation of the Informational Content, Readability and Comprehensibility of Online Health Information on Monogenic Diabetes. ( 28951986 )
2017
24
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients. ( 28701371 )
2017
25
Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer. ( 28556992 )
2017
26
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes. ( 27035557 )
2016
27
Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. ( 27330718 )
2016
28
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
29
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
30
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. ( 27486234 )
2016
31
Treating young adults with type 2 diabetes or monogenic diabetes. ( 27432078 )
2016
32
Monogenic Diabetes: Not Your &amp;quot;Typical&amp;quot; Diabetes. ( 27491106 )
2016
33
Monogenic diabetes: Implementation of translational genomic research towards precision medicine. ( 27390143 )
2016
34
Practical Aspects of Monogenic Diabetes: A Clinical Point of View. ( 26897468 )
2016
35
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. ( 27271189 )
2016
36
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&amp;gt;G. ( 28004468 )
2016
37
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. ( 27106716 )
2016
38
Structure - Function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. ( 26853433 )
2016
39
Genetic counseling in monogenic diabetes GCK MODY. ( 28329773 )
2016
40
GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. ( 26043405 )
2015
41
Monogenic diabetes: the treatment options. ( 25773279 )
2015
42
Personalized Medicine: Monogenic Diabetes. ( 26390534 )
2015
43
Monogenic diabetes and pregnancy. ( 27512465 )
2015
44
Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. ( 26109503 )
2015
45
New insights from monogenic diabetes for &amp;quot;common&amp;quot; type 2 diabetes. ( 26300908 )
2015
46
An online monogenic diabetes discussion group: supporting families and fueling new research. ( 26184072 )
2015
47
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. ( 25555642 )
2015
48
Genetic testing for monogenic diabetes using targeted next-generation sequencing in the MODY cohort from Poland. ( 26552609 )
2015
49
What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity? ( 26599467 )
2015
50
The variable faces of monogenic diabetes. ( 24330066 )
2014
Sources

Variations for Monogenic Diabetes

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ClinVar genetic disease variations for Monogenic Diabetes:

6 (show top 50) (show all 544)
# Gene Variation Type Significance SNP ID Assembly Location
1 KLF11 NM_003597.4(KLF11): c.659C> T (p.Thr220Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34336420 GRCh37 Chromosome 2, 10188123: 10188123
2 KLF11 NM_003597.4(KLF11): c.659C> T (p.Thr220Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34336420 GRCh38 Chromosome 2, 10047996: 10047996
3 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh37 Chromosome 13, 28494501: 28494501
4 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh38 Chromosome 13, 27920364: 27920364
5 PDX1 NM_000209.3(PDX1): c.670G> A (p.Glu224Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137852787 GRCh37 Chromosome 13, 28498656: 28498656
6 PDX1 NM_000209.3(PDX1): c.670G> A (p.Glu224Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137852787 GRCh38 Chromosome 13, 27924519: 27924519
7 BLK NM_001715.2(BLK): c.211G> A (p.Ala71Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs55758736 GRCh37 Chromosome 8, 11405576: 11405576
8 BLK NM_001715.2(BLK): c.211G> A (p.Ala71Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs55758736 GRCh38 Chromosome 8, 11548067: 11548067
9 PAX4 NM_006193.2(PAX4): c.397C> T (p.Arg133Trp) single nucleotide variant risk factor rs2233578 GRCh37 Chromosome 7, 127254551: 127254551
10 PAX4 NM_006193.2(PAX4): c.397C> T (p.Arg133Trp) single nucleotide variant risk factor rs2233578 GRCh38 Chromosome 7, 127614497: 127614497
11 INSR NM_000208.3(INSR): c.3034G> A (p.Val1012Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1799816 GRCh37 Chromosome 19, 7125518: 7125518
12 INSR NM_000208.3(INSR): c.3034G> A (p.Val1012Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1799816 GRCh38 Chromosome 19, 7125507: 7125507
13 HNF1A NM_000545.6(HNF1A): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs137853238 GRCh37 Chromosome 12, 121432068: 121432068
14 HNF1A NM_000545.6(HNF1A): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs137853238 GRCh38 Chromosome 12, 120994265: 120994265
15 SLC2A2 NM_000340.1(SLC2A2): c.589G> A (p.Val197Ile) single nucleotide variant Uncertain significance rs121909741 GRCh37 Chromosome 3, 170724960: 170724960
16 SLC2A2 NM_000340.1(SLC2A2): c.589G> A (p.Val197Ile) single nucleotide variant Uncertain significance rs121909741 GRCh38 Chromosome 3, 171007171: 171007171
17 GCK NM_000162.3(GCK): c.146C> A (p.Thr49Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922286 GRCh37 Chromosome 7, 44192962: 44192962
18 GCK NM_000162.3(GCK): c.146C> A (p.Thr49Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs193922286 GRCh38 Chromosome 7, 44153363: 44153363
19 PDX1 NM_000209.3(PDX1): c.726_728dupGCC (p.Pro244_Gly245insPro) duplication Conflicting interpretations of pathogenicity rs193922357 GRCh37 Chromosome 13, 28498712: 28498714
20 PDX1 NM_000209.3(PDX1): c.726_728dupGCC (p.Pro244_Gly245insPro) duplication Conflicting interpretations of pathogenicity rs193922357 GRCh38 Chromosome 13, 27924575: 27924577
21 KCNJ11 NM_000525.3(KCNJ11): c.1154C> G (p.Ser385Cys) single nucleotide variant Benign/Likely benign rs41282930 GRCh37 Chromosome 11, 17408485: 17408485
22 KCNJ11 NM_000525.3(KCNJ11): c.1154C> G (p.Ser385Cys) single nucleotide variant Benign/Likely benign rs41282930 GRCh38 Chromosome 11, 17386938: 17386938
23 MC4R NM_005912.2(MC4R): c.606C> A (p.Phe202Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138281308 GRCh37 Chromosome 18, 58038977: 58038977
24 MC4R NM_005912.2(MC4R): c.606C> A (p.Phe202Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138281308 GRCh38 Chromosome 18, 60371744: 60371744
25 HNF1A NM_000545.6(HNF1A): c.965A> G (p.Tyr322Cys) single nucleotide variant Uncertain significance rs140491072 GRCh37 Chromosome 12, 121434074: 121434074
26 HNF1A NM_000545.6(HNF1A): c.965A> G (p.Tyr322Cys) single nucleotide variant Uncertain significance rs140491072 GRCh38 Chromosome 12, 120996271: 120996271
27 WFS1 NM_006005.3(WFS1): c.1495C> T (p.Leu499Phe) single nucleotide variant Benign/Likely benign rs114152068 GRCh37 Chromosome 4, 6303017: 6303017
28 WFS1 NM_006005.3(WFS1): c.1495C> T (p.Leu499Phe) single nucleotide variant Benign/Likely benign rs114152068 GRCh38 Chromosome 4, 6301290: 6301290
29 WFS1 NM_006005.3(WFS1): c.1726G> A (p.Gly576Ser) single nucleotide variant Benign/Likely benign rs1805069 GRCh37 Chromosome 4, 6303248: 6303248
30 WFS1 NM_006005.3(WFS1): c.1726G> A (p.Gly576Ser) single nucleotide variant Benign/Likely benign rs1805069 GRCh38 Chromosome 4, 6301521: 6301521
31 WFS1 NM_006005.3(WFS1): c.1805C> T (p.Ala602Val) single nucleotide variant Benign/Likely benign rs2230720 GRCh37 Chromosome 4, 6303327: 6303327
32 WFS1 NM_006005.3(WFS1): c.1805C> T (p.Ala602Val) single nucleotide variant Benign/Likely benign rs2230720 GRCh38 Chromosome 4, 6301600: 6301600
33 WFS1 NM_006005.3(WFS1): c.2012C> T (p.Ala671Val) single nucleotide variant Benign/Likely benign rs71530907 GRCh37 Chromosome 4, 6303534: 6303534
34 WFS1 NM_006005.3(WFS1): c.2012C> T (p.Ala671Val) single nucleotide variant Benign/Likely benign rs71530907 GRCh38 Chromosome 4, 6301807: 6301807
35 WFS1 NM_006005.3(WFS1): c.2335G> A (p.Val779Met) single nucleotide variant Benign/Likely benign rs141328044 GRCh37 Chromosome 4, 6303857: 6303857
36 WFS1 NM_006005.3(WFS1): c.2335G> A (p.Val779Met) single nucleotide variant Benign/Likely benign rs141328044 GRCh38 Chromosome 4, 6302130: 6302130
37 WFS1 NM_006005.3(WFS1): c.2611G> A (p.Val871Met) single nucleotide variant Benign/Likely benign rs71532874 GRCh37 Chromosome 4, 6304133: 6304133
38 WFS1 NM_006005.3(WFS1): c.2611G> A (p.Val871Met) single nucleotide variant Benign/Likely benign rs71532874 GRCh38 Chromosome 4, 6302406: 6302406
39 BSCL2 NM_032667.6(BSCL2): c.1088T> C (p.Leu363Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145649423 GRCh38 Chromosome 11, 62690476: 62690476
40 BSCL2 NM_032667.6(BSCL2): c.1088T> C (p.Leu363Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145649423 GRCh37 Chromosome 11, 62457948: 62457948
41 CEL NM_001807.4(CEL): c.362T> G (p.Leu121Arg) single nucleotide variant Benign rs113056079 GRCh37 Chromosome 9, 135940439: 135940439
42 CEL NM_001807.4(CEL): c.362T> G (p.Leu121Arg) single nucleotide variant Benign rs113056079 GRCh38 Chromosome 9, 133065052: 133065052
43 EIF2AK3 NM_004836.6(EIF2AK3): c.1756A> T (p.Ile586Leu) single nucleotide variant Benign/Likely benign rs75385605 GRCh37 Chromosome 2, 88882955: 88882955
44 EIF2AK3 NM_004836.6(EIF2AK3): c.1756A> T (p.Ile586Leu) single nucleotide variant Benign/Likely benign rs75385605 GRCh38 Chromosome 2, 88583437: 88583437
45 GATA6 NM_005257.5(GATA6): c.43G> C (p.Gly15Arg) single nucleotide variant Benign rs116262672 GRCh37 Chromosome 18, 19751148: 19751148
46 GATA6 NM_005257.5(GATA6): c.43G> C (p.Gly15Arg) single nucleotide variant Benign rs116262672 GRCh38 Chromosome 18, 22171187: 22171187
47 GATA6 NM_005257.5(GATA6): c.851C> G (p.Ala284Gly) single nucleotide variant Benign/Likely benign rs185325359 GRCh37 Chromosome 18, 19751956: 19751956
48 GATA6 NM_005257.5(GATA6): c.851C> G (p.Ala284Gly) single nucleotide variant Benign/Likely benign rs185325359 GRCh38 Chromosome 18, 22171995: 22171995
49 GCK NM_000162.4(GCK): c.31G> A (p.Ala11Thr) single nucleotide variant Benign/Likely benign rs116093166 GRCh37 Chromosome 7, 44228522: 44228522
50 GCK NM_000162.4(GCK): c.31G> A (p.Ala11Thr) single nucleotide variant Benign/Likely benign rs116093166 GRCh38 Chromosome 7, 44188923: 44188923
Sources

Expression for Monogenic Diabetes

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Search GEO for disease gene expression data for Monogenic Diabetes.
Sources

Pathways for Monogenic Diabetes

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 66
Show member pathways
 13.17 GCK HNF1A HNF4A INS PAX4 PDX1
2
Aldosterone synthesis and secretion 37
Show member pathways
 12.44 ABCC8 GCK INS KCNJ11 PDX1
3
Glucose / Energy Metabolism 4
12.21 BSCL2 HNF1A HNF4A INS PDX1
4
Integration of energy metabolism 66
Show member pathways
 12.03 ABCC8 INS KCNJ11
5
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.76 INS PAX4 PDX1
6
Hepatic ABC Transporters 64
Show member pathways
 11.75 GCK HNF1A HNF4A INS PDX1
7
Adipogenesis 1
11.73 BSCL2 HNF1A INS
8
Regulation of beta-cell development 66
Show member pathways
 11.63 GCK HNF1A HNF4A INS PAX4 PDX1
9
Type II diabetes mellitus 37 1
Show member pathways
 11.48 ABCC8 GCK HNF1A HNF4A INS KCNJ11
10
FOXA2 and FOXA3 transcription factor networks 1
10.81 ABCC8 GCK HNF1A HNF4A INS KCNJ11
11
Dichloroethylene metabolism 22
10.31 HNF1A HNF4A
Sources

GO Terms for Monogenic Diabetes

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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, DNA-templated GO:0045893 9.89 GATA6 HNF1A HNF4A PDX1
2 transcription by RNA polymerase II GO:0006366 9.88 GATA6 HNF1A HNF4A PDX1
3 response to drug GO:0042493 9.8 ABCC8 GATA6 KCNJ11 PAX4
4 animal organ morphogenesis GO:0009887 9.7 GATA6 PAX4 PDX1
5 liver development GO:0001889 9.65 GATA6 HNF1A PDX1
6 negative regulation of insulin secretion GO:0046676 9.58 ABCC8 KCNJ11
7 cellular glucose homeostasis GO:0001678 9.56 ABCC8 GCK
8 glucose metabolic process GO:0006006 9.56 GCK INS KCNJ11 PDX1
9 negative regulation of lipid catabolic process GO:0050995 9.55 BSCL2 INS
10 glucose homeostasis GO:0042593 9.55 GCK HNF1A HNF4A INS PDX1
11 positive regulation of glycogen biosynthetic process GO:0045725 9.54 GCK INS
12 insulin secretion GO:0030073 9.54 HNF1A MC4R PDX1
13 negative regulation of gluconeogenesis GO:0045721 9.51 GCK INS
14 endocrine pancreas development GO:0031018 9.5 HNF1A PAX4 PDX1
15 negative regulation of feeding behavior GO:2000252 9.46 INS MC4R
16 type B pancreatic cell differentiation GO:0003309 9.43 GATA6 PDX1
17 detection of glucose GO:0051594 9.4 GCK PDX1
18 pancreas development GO:0031016 9.26 GATA6 HNF1A PAX4 PDX1
19 regulation of insulin secretion GO:0050796 9.02 ABCC8 GCK HNF1A HNF4A KCNJ11
20 regulation of transcription, DNA-templated GO:0006355 10.04 GATA6 HNF1A HNF4A INS PAX4 PDX1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 GATA6 HNF1A HNF4A PDX1
2 sequence-specific DNA binding GO:0043565 9.35 GATA6 HNF1A HNF4A PAX4 PDX1
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11
Sources

Sources for Monogenic Diabetes

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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