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MIFTS: 37

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)


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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 hypoglycemia. 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 Reduced mammosphere formation and shRNA abundance <= 50%

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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 all 44)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, permanent neonatal 30.2 ABCC8 GCK INS KCNJ11 PDX1
2 hypoglycemia 27.7 ABCC8 GCK INS KCNJ11
3 gestational diabetes 27.7 GCK HNF1A HNF4A INS KCNJ11
4 hyperinsulinism 27.4 ABCC8 GCK HNF4A INS KCNJ11
5 hyperglycemia 26.6 ABCC8 GCK HNF1A INS KCNJ11 PDX1
6 maturity-onset diabetes of the young 26.1 ABCC8 CEL GCK HNF1A HNF4A INS
7 diabetes mellitus 25.8 ABCC8 GCK HNF1A HNF4A INS KCNJ11
8 intestinal atresia 10.4 GCK PDX1
9 maturity-onset diabetes of the young, type 2 10.2 GCK INS
10 maturity-onset diabetes of the young, type 3 10.2 HNF1A INS
11 aminoaciduria 10.1 HNF1A HNF4A
12 type 1 diabetes mellitus 11 10.1 HNF1A INS
13 fanconi-bickel syndrome 10.0 ABCC8 INS
14 pancreatitis 9.9
15 megaloblastic anemia 9.9
16 diabetes mellitus, ketosis-prone 9.8 INS PAX4
17 cardiomyopathy, dilated, 1o 9.8 ABCC8 KCNJ11
18 carbohydrate metabolic disorder 9.8 ABCC8 INS
19 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.8 ABCC8 KCNJ11
20 hypopituitarism 9.7
21 renal dysplasia 9.7
22 aging 9.7
23 hyperinsulinemic hypoglycemia, familial, 3 9.7
24 hyperinsulinemic hypoglycemia, familial, 5 9.7
25 hyperinsulinemic hypoglycemia, familial, 4 9.7
26 usher syndrome, type ic 9.7 ABCC8 KCNJ11
27 cantu syndrome 9.6 ABCC8 KCNJ11
28 munchausen by proxy 9.5 ABCC8 GCK KCNJ11
29 3-hydroxyacyl-coa dehydrogenase deficiency 9.5 GCK INS
30 insulinoma 9.3 ABCC8 GCK INS PDX1
31 acute insulin response 9.1 ABCC8 INS KCNJ11
32 pancreas disease 9.1 ABCC8 INS KCNJ11
33 alstrom syndrome 9.1 INS KCNJ11
34 diabetes mellitus, transient neonatal, 1 9.1 ABCC8 INS KCNJ11
35 diabetes mellitus, insulin-dependent 8.9 GCK HNF1A INS PAX4 PDX1
36 factitious disorder 8.8 ABCC8 GCK INS KCNJ11
37 endocrine pancreas disease 8.8 ABCC8 GCK INS KCNJ11
38 glucose metabolism disease 8.8 ABCC8 GCK INS KCNJ11
39 hyperinsulinemic hypoglycemia, familial, 2 8.8 ABCC8 HNF4A INS KCNJ11
40 acquired metabolic disease 8.7 GCK INS KCNJ11 MC4R
41 hyperinsulinemic hypoglycemia 8.4 ABCC8 GCK HNF4A INS KCNJ11
42 pancreatic agenesis 8.4 ABCC8 GCK INS KCNJ11 PDX1
43 neonatal diabetes mellitus 8.4 ABCC8 GCK INS KCNJ11 PDX1
44 diabetes mellitus, noninsulin-dependent 6.5 ABCC8 GCK HNF1A HNF4A INS KCNJ11

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 Reduced mammosphere formation GR00396-S 9.35 ABCC8 CEL HNF4A KCNJ11 MC4R
2 shRNA abundance <= 50% GR00343-S 9.17 CEL GCK HNF1A HNF4A KCNJ11 MC4R

MGI Mouse Phenotypes related to Monogenic Diabetes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 KCNJ11 MC4R CEL PAX4 GCK PDX1
2 endocrine/exocrine gland MP:0005379 9.87 INS KCNJ11 ABCC8 PAX4 GCK PDX1
3 homeostasis/metabolism MP:0005376 9.85 KCNJ11 ABCC8 MC4R CEL GCK PAX4
4 adipose tissue MP:0005375 9.77 INS KCNJ11 CEL MC4R HNF1A
5 liver/biliary system MP:0005370 9.5 MC4R CEL GCK PDX1 HNF1A HNF4A
6 no phenotypic analysis MP:0003012 9.1 INS KCNJ11 ABCC8 MC4R PDX1 HNF1A
Sources

Drugs & Therapeutics for Monogenic Diabetes

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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
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
2
Glimepiride Approved Phase 2, Phase 3 93479-97-1 3476
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,Not Applicable
9 Immunosuppressive Agents Phase 2, Phase 3
10 Incretins Phase 2, Phase 3,Phase 1
11 insulin Phase 1,Not Applicable
12 Insulin, Globin Zinc Phase 1,Not Applicable
13 glucagon Phase 1
14 Gastrointestinal Agents Phase 1
15
Zinc Approved, Investigational Not Applicable 7440-66-6 23994
16
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
17
Insulin Glargine Approved Not Applicable 160337-95-1
18
Insulin Detemir Approved Not Applicable 169148-63-4 5311023
19
Insulin Lispro Approved Not Applicable 133107-64-9
20
Adenosine Approved, Investigational 58-61-7 60961
21 Antibodies
22 Immunoglobulins
23 Autoantibodies
24 Insulin, Isophane Not Applicable
25 Isophane insulin, beef Not Applicable
26 Isophane Insulin, Human Not Applicable
27 Analgesics
28 Neurotransmitter Agents
29 Vasodilator Agents
30 Peripheral Nervous System Agents
31 arginine Nutraceutical Not Applicable

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 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 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

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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
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Publications for Monogenic Diabetes

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Articles related to Monogenic Diabetes:

(show top 50) (show all 105)
# 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
The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase II. ( 29020906 )
2017
8
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. ( 28597946 )
2017
9
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012. ( 28323911 )
2017
10
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. ( 29207974 )
2017
11
Monogenic diabetes syndromes: Locus-specific databases for AlstrAPm, Wolfram, and Thiamine-responsive megaloblastic anemia. ( 28432734 )
2017
12
Precision diabetes: learning from monogenic diabetes. ( 28314945 )
2017
13
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA. ( 28938416 )
2017
14
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel. ( 29120028 )
2017
15
Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease. ( 28680642 )
2017
16
Evaluation of the Informational Content, Readability and Comprehensibility of Online Health Information on Monogenic Diabetes. ( 28951986 )
2017
17
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients. ( 28701371 )
2017
18
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes. ( 29183106 )
2017
19
Monogenic diabetes prevalence among Polish children-Summary of 11a88years-long nationwide genetic screening program. ( 28436179 )
2017
20
Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer. ( 28556992 )
2017
21
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes. ( 27035557 )
2016
22
Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. ( 27330718 )
2016
23
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
24
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
25
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. ( 27486234 )
2016
26
Treating young adults with type 2 diabetes or monogenic diabetes. ( 27432078 )
2016
27
Monogenic Diabetes: Not Your &amp;quot;Typical&amp;quot; Diabetes. ( 27491106 )
2016
28
Monogenic diabetes: Implementation of translational genomic research towards precision medicine. ( 27390143 )
2016
29
Practical Aspects of Monogenic Diabetes: A Clinical Point of View. ( 26897468 )
2016
30
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. ( 27271189 )
2016
31
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
32
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. ( 27106716 )
2016
33
Structure - Function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. ( 26853433 )
2016
34
GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. ( 26043405 )
2015
35
Monogenic diabetes: the treatment options. ( 25773279 )
2015
36
Personalized Medicine: Monogenic Diabetes. ( 26390534 )
2015
37
Monogenic diabetes and pregnancy. ( 27512465 )
2015
38
Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. ( 26109503 )
2015
39
New insights from monogenic diabetes for &amp;quot;common&amp;quot; type 2 diabetes. ( 26300908 )
2015
40
An online monogenic diabetes discussion group: supporting families and fueling new research. ( 26184072 )
2015
41
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. ( 25555642 )
2015
42
Genetic testing for monogenic diabetes using targeted next-generation sequencing in the MODY cohort from Poland. ( 26552609 )
2015
43
What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity? ( 26599467 )
2015
44
The variable faces of monogenic diabetes. ( 24330066 )
2014
45
Many faces of monogenic diabetes. ( 24843749 )
2014
46
Population-based estimates for double diabetes amongst people with glucokinase monogenic diabetes, GCK-MODY. ( 24660669 )
2014
47
The diagnosis and management of monogenic diabetes in children and adolescents. ( 25182307 )
2014
48
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. ( 25136813 )
2014
49
Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes. ( 25082184 )
2014
50
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. ( 25306193 )
2014
Sources

Variations for Monogenic Diabetes

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ClinVar genetic disease variations for Monogenic Diabetes:

6
(show top 50) (show all 302)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh37 Chromosome 13, 28494501: 28494501
2 PDX1 NM_000209.3(PDX1): c.226G> A (p.Asp76Asn) single nucleotide variant risk factor rs137852783 GRCh38 Chromosome 13, 27920364: 27920364
3 PAX4 NM_006193.2(PAX4): c.397C> T (p.Arg133Trp) single nucleotide variant risk factor rs2233578 GRCh37 Chromosome 7, 127254551: 127254551
4 PAX4 NM_006193.2(PAX4): c.397C> T (p.Arg133Trp) single nucleotide variant risk factor rs2233578 GRCh38 Chromosome 7, 127614497: 127614497
5 HNF1A NM_000545.6(HNF1A): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs137853238 GRCh37 Chromosome 12, 121432068: 121432068
6 HNF1A NM_000545.6(HNF1A): c.815G> A (p.Arg272His) single nucleotide variant Pathogenic rs137853238 GRCh38 Chromosome 12, 120994265: 120994265
7 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh37 Chromosome 11, 17408831: 17408831
8 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh38 Chromosome 11, 17387284: 17387284
9 WFS1 NM_006005.3(WFS1): c.353A> C (p.Asp118Ala) single nucleotide variant Benign/Likely benign rs71524349 GRCh37 Chromosome 4, 6290751: 6290751
10 WFS1 NM_006005.3(WFS1): c.353A> C (p.Asp118Ala) single nucleotide variant Benign/Likely benign rs71524349 GRCh38 Chromosome 4, 6289024: 6289024
11 WFS1 NM_006005.3(WFS1): c.577A> C (p.Lys193Gln) single nucleotide variant Benign/Likely benign rs41264699 GRCh37 Chromosome 4, 6293040: 6293040
12 WFS1 NM_006005.3(WFS1): c.577A> C (p.Lys193Gln) single nucleotide variant Benign/Likely benign rs41264699 GRCh38 Chromosome 4, 6291313: 6291313
13 WFS1 NM_006005.3(WFS1): c.1153G> A (p.Glu385Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs71524353 GRCh37 Chromosome 4, 6302675: 6302675
14 WFS1 NM_006005.3(WFS1): c.1153G> A (p.Glu385Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs71524353 GRCh38 Chromosome 4, 6300948: 6300948
15 WFS1 NM_006005.3(WFS1): c.2385G> C (p.Glu795Asp) single nucleotide variant Uncertain significance rs373310972 GRCh37 Chromosome 4, 6303907: 6303907
16 WFS1 NM_006005.3(WFS1): c.2385G> C (p.Glu795Asp) single nucleotide variant Uncertain significance rs373310972 GRCh38 Chromosome 4, 6302180: 6302180
17 BSCL2 NM_032667.6(BSCL2): c.1175G> A (p.Arg392His) single nucleotide variant Conflicting interpretations of pathogenicity rs149466797 GRCh37 Chromosome 11, 62457861: 62457861
18 BSCL2 NM_032667.6(BSCL2): c.1175G> A (p.Arg392His) single nucleotide variant Conflicting interpretations of pathogenicity rs149466797 GRCh38 Chromosome 11, 62690389: 62690389
19 WFS1 NM_006005.3(WFS1): c.20C> T (p.Pro7Leu) single nucleotide variant Uncertain significance rs138165486 GRCh37 Chromosome 4, 6279202: 6279202
20 WFS1 NM_006005.3(WFS1): c.20C> T (p.Pro7Leu) single nucleotide variant Uncertain significance rs138165486 GRCh38 Chromosome 4, 6277475: 6277475
21 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh37 Chromosome 4, 6303194: 6303194
22 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh38 Chromosome 4, 6301467: 6301467
23 ALMS1 NM_015120.4(ALMS1): c.1456A> G (p.Ile486Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73945001 GRCh37 Chromosome 2, 73675110: 73675110
24 ALMS1 NM_015120.4(ALMS1): c.1456A> G (p.Ile486Val) single nucleotide variant Conflicting interpretations of pathogenicity rs73945001 GRCh38 Chromosome 2, 73447980: 73447980
25 ALMS1 NM_015120.4(ALMS1): c.1841G> A (p.Gly614Asp) single nucleotide variant Uncertain significance rs148040591 GRCh37 Chromosome 2, 73675492: 73675492
26 ALMS1 NM_015120.4(ALMS1): c.1841G> A (p.Gly614Asp) single nucleotide variant Uncertain significance rs148040591 GRCh38 Chromosome 2, 73448365: 73448365
27 RFX6 NM_173560.3(RFX6): c.2039C> A (p.Thr680Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs146081967 GRCh38 Chromosome 6, 116927180: 116927180
28 RFX6 NM_173560.3(RFX6): c.2039C> A (p.Thr680Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs146081967 GRCh37 Chromosome 6, 117248343: 117248343
29 AGPAT2 NM_006412.3(AGPAT2): c.475C> T (p.Arg159Cys) single nucleotide variant Likely benign rs142993240 GRCh37 Chromosome 9, 139571430: 139571430
30 AGPAT2 NM_006412.3(AGPAT2): c.475C> T (p.Arg159Cys) single nucleotide variant Likely benign rs142993240 GRCh38 Chromosome 9, 136676978: 136676978
31 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh38 Chromosome 19, 7132162: 7132162
32 INSR NM_000208.3(INSR): c.2838C> G (p.Asp946Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146588336 GRCh37 Chromosome 19, 7132173: 7132173
33 WFS1 NM_006005.3(WFS1): c.227G> T (p.Gly76Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200135768 GRCh38 Chromosome 4, 6277682: 6277682
34 WFS1 NM_006005.3(WFS1): c.227G> T (p.Gly76Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200135768 GRCh37 Chromosome 4, 6279409: 6279409
35 WFS1 NM_006005.3(WFS1): c.1554G> A (p.Met518Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138232538 GRCh38 Chromosome 4, 6301349: 6301349
36 WFS1 NM_006005.3(WFS1): c.1554G> A (p.Met518Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138232538 GRCh37 Chromosome 4, 6303076: 6303076
37 WFS1 NM_006005.3(WFS1): c.1760G> A (p.Arg587Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs71539657 GRCh38 Chromosome 4, 6301555: 6301555
38 WFS1 NM_006005.3(WFS1): c.1760G> A (p.Arg587Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs71539657 GRCh37 Chromosome 4, 6303282: 6303282
39 WFS1 NM_006005.3(WFS1): c.2194C> T (p.Arg732Cys) single nucleotide variant Uncertain significance rs71526458 GRCh38 Chromosome 4, 6301989: 6301989
40 WFS1 NM_006005.3(WFS1): c.2194C> T (p.Arg732Cys) single nucleotide variant Uncertain significance rs71526458 GRCh37 Chromosome 4, 6303716: 6303716
41 MC4R NM_005912.2(MC4R): c.751A> C (p.Ile251Leu) single nucleotide variant protective rs52820871 GRCh38 Chromosome 18, 60371599: 60371599
42 MC4R NM_005912.2(MC4R): c.751A> C (p.Ile251Leu) single nucleotide variant protective rs52820871 GRCh37 Chromosome 18, 58038832: 58038832
43 MC4R NM_005912.2(MC4R): c.307G> A (p.Val103Ile) single nucleotide variant Likely benign rs2229616 GRCh38 Chromosome 18, 60372043: 60372043
44 MC4R NM_005912.2(MC4R): c.307G> A (p.Val103Ile) single nucleotide variant Likely benign rs2229616 GRCh37 Chromosome 18, 58039276: 58039276
45 ALMS1 NM_015120.4(ALMS1): c.674C> A (p.Pro225His) single nucleotide variant Benign rs11889925 GRCh37 Chromosome 2, 73650009: 73650009
46 ALMS1 NM_015120.4(ALMS1): c.674C> A (p.Pro225His) single nucleotide variant Benign rs11889925 GRCh38 Chromosome 2, 73422881: 73422881
47 ALMS1 NM_015120.4(ALMS1): c.1147A> G (p.Thr383Ala) single nucleotide variant Benign rs28730849 GRCh38 Chromosome 2, 73424809: 73424809
48 ALMS1 NM_015120.4(ALMS1): c.1147A> G (p.Thr383Ala) single nucleotide variant Benign rs28730849 GRCh37 Chromosome 2, 73651937: 73651937
49 ALMS1 NM_015120.4(ALMS1): c.4157C> G (p.Thr1386Arg) single nucleotide variant Benign rs115517108 GRCh37 Chromosome 2, 73677808: 73677808
50 ALMS1 NM_015120.4(ALMS1): c.4157C> G (p.Thr1386Arg) single nucleotide variant Benign rs115517108 GRCh38 Chromosome 2, 73450681: 73450681
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 12)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 66
Show member pathways
 13.12 GCK HNF1A HNF4A INS PAX4 PDX1
2
Aldosterone synthesis and secretion 37
Show member pathways
 12.58 ABCC8 GCK INS KCNJ11 PDX1
3
Glucose / Energy Metabolism 4
12.16 HNF1A HNF4A INS PDX1
4
Integration of energy metabolism 66
Show member pathways
 12.01 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
Regulation of beta-cell development 66
Show member pathways
 11.63 GCK HNF1A HNF4A INS PAX4 PDX1
8
Type II diabetes mellitus 37 1
Show member pathways
 11.48 ABCC8 GCK HNF1A HNF4A INS KCNJ11
9
Antiarrhythmic Pathway, Pharmacodynamics 61
11.26 ABCC8 KCNJ11
10
Development_Leptin signaling via PI3K-dependent pathway 22
11.21 ABCC8 KCNJ11
11
FOXA2 and FOXA3 transcription factor networks 1
10.81 ABCC8 GCK HNF1A HNF4A INS KCNJ11
12
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 14)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.7 ABCC8 KCNJ11 PAX4
2 response to glucose GO:0009749 9.58 HNF1A HNF4A INS
3 SMAD protein signal transduction GO:0060395 9.54 HNF1A HNF4A
4 positive regulation of cell differentiation GO:0045597 9.51 INS PAX4
5 insulin secretion GO:0030073 9.5 HNF1A MC4R PDX1
6 pancreas development GO:0031016 9.49 PAX4 PDX1
7 positive regulation of glycogen biosynthetic process GO:0045725 9.48 GCK INS
8 negative regulation of gluconeogenesis GO:0045721 9.46 GCK INS
9 glucose metabolic process GO:0006006 9.46 GCK INS KCNJ11 PDX1
10 negative regulation of feeding behavior GO:2000252 9.43 INS MC4R
11 endocrine pancreas development GO:0031018 9.43 HNF1A PAX4 PDX1
12 detection of glucose GO:0051594 9.37 GCK PDX1
13 glucose homeostasis GO:0042593 9.35 GCK HNF1A HNF4A INS PDX1
14 regulation of insulin secretion GO:0050796 9.02 ABCC8 GCK HNF1A HNF4A KCNJ11

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.26 HNF1A HNF4A PAX4 PDX1
2 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11
Sources

Sources for Monogenic Diabetes

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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
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37 KEGG
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62 PubMed
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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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