Aliases & Classifications for Monogenic Diabetes

MalaCards integrated aliases for Monogenic Diabetes:

Name: Monogenic Diabetes 52 29 6 17

Classifications:



External Ids:

Summaries for Monogenic Diabetes

NIH Rare Diseases : 52 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 1 and diabetes mellitus, permanent neonatal 4. An important gene associated with Monogenic Diabetes is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Glucose / Energy Metabolism. The drugs Glipizide and Glyburide have been mentioned in the context of this disorder. Affiliated tissues include testes, pancreas and liver, and related phenotypes are Reduced mammosphere formation and shRNA abundance <= 50%

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 106)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, permanent neonatal 1 31.9 PDX1 KCNJ11 INS GCK ABCC8
2 diabetes mellitus, permanent neonatal 4 30.6 SLC19A2 PDX1 KCNJ11 INS GCK GATA6
3 wolfram syndrome 30.2 WFS1 KCNJ11 INS
4 hypoglycemia 30.1 KCNJ11 INS GCK ABCC8
5 wolfram syndrome 1 30.0 WFS1 KCNJ11 INS
6 diabetes mellitus, ketosis-prone 29.9 KCNJ11 INS ABCC8
7 maturity-onset diabetes of the young 29.7 WFS1 PDX1 KCNJ11 INS HNF4A HNF1B
8 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 29.6 WFS1 KCNJ11 INS ABCC8
9 gestational diabetes 29.5 KCNJ11 INS HNF4A HNF1A GCK ABCC8
10 maturity-onset diabetes of the young, type 10 29.3 PDX1 KCNJ11 INS ABCC8
11 hyperglycemia 29.2 PDX1 KCNJ11 INS HNF4A HNF1A GCK
12 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.1 LMNA INS BSCL2
13 insulinoma 29.1 WFS1 PDX1 INS HNF1A GCK ABCC8
14 hyperinsulinism 28.9 MC4R KCNJ11 INS HNF4A GCK ABCC8
15 congenital generalized lipodystrophy 28.8 LMNA INS BSCL2
16 familial partial lipodystrophy 28.8 LMNA INS BSCL2
17 glucose metabolism disease 28.8 KCNJ11 INS GCK
18 maturity-onset diabetes of the young, type 3 28.5 PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
19 pancreatic agenesis 28.5 PDX1 KCNJ11 INS HNF1B GCK GATA6
20 maturity-onset diabetes of the young, type 1 28.4 PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
21 maturity-onset diabetes of the young, type 2 28.4 WFS1 PDX1 KCNJ11 INS HNF4A HNF1B
22 transient neonatal diabetes mellitus 28.3 SLC19A2 PDX1 KCNJ11 INS GCK ABCC8
23 maturity-onset diabetes of the young, type 4 28.3 PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
24 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 28.2 PDX1 KCNJ11 HNF4A HNF1B HNF1A GCK
25 neonatal diabetes mellitus 27.6 WFS1 SLC19A2 PDX1 KCNJ11 INS HNF4A
26 diabetes mellitus 25.2 WFS1 SLC19A2 PDX1 MC4R LMNA KCNJ11
27 type 1 diabetes mellitus 11 10.3 PDX1 HNF1A
28 hyperinsulinemic hypoglycemia, familial, 6 10.3 GCK ABCC8
29 maturity-onset diabetes of the young, type 14 10.3 PDX1 GCK
30 fructose-1,6-bisphosphatase deficiency 10.3 GCK ABCC8
31 hepatic adenomas, familial 10.3 HNF4A HNF1A
32 cardiomyopathy, dilated, 1o 10.2 KCNJ11 ABCC8
33 munchausen by proxy 10.2 KCNJ11 GCK ABCC8
34 branchiootic syndrome 1 10.1
35 hyperinsulinemic hypoglycemia, familial, 7 10.1 KCNJ11 GCK ABCC8
36 maturity-onset diabetes of the young, type 11 10.1 PDX1 KCNJ11 ABCC8
37 fanconi-bickel syndrome 10.1 INS ABCC8
38 megaloblastic anemia 10.1
39 caroli disease 10.1 HNF1B BSCL2
40 thiamine-responsive megaloblastic anemia syndrome 10.0
41 hyperinsulinemic hypoglycemia, familial, 5 10.0
42 hyperinsulinemic hypoglycemia, familial, 4 10.0
43 cantu syndrome 10.0 KCNJ11 ABCC8
44 aminoaciduria 10.0 HNF4A HNF1A
45 diabetes mellitus, insulin-dependent, 20 10.0 INS HNF1A
46 alstrom syndrome 9.9
47 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.9
48 diabetes and deafness, maternally inherited 9.9
49 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
50 acute insulin response 9.9 KCNJ11 INS ABCC8

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



Diseases related to Monogenic Diabetes

Symptoms & Phenotypes for Monogenic Diabetes

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 9.5 ABCC8 ALMS1 CEL HNF4A KCNJ11 LMNA
2 shRNA abundance <= 50% GR00343-S 9.1 CEL GCK HNF1A KCNJ11 PDX1 SLC19A2

MGI Mouse Phenotypes related to Monogenic Diabetes:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 ABCC8 ALMS1 BSCL2 CEL GATA6 GCK
2 growth/size/body region MP:0005378 10.28 ALMS1 BSCL2 CEL GATA6 GCK HNF1A
3 cellular MP:0005384 10.24 ALMS1 BSCL2 GATA6 GCK HNF1A HNF1B
4 endocrine/exocrine gland MP:0005379 10.23 ABCC8 ALMS1 BSCL2 GCK HNF1A HNF1B
5 behavior/neurological MP:0005386 10.21 ALMS1 BSCL2 HNF1A HNF4A INS KCNJ11
6 liver/biliary system MP:0005370 10.15 ALMS1 BSCL2 CEL GATA6 GCK HNF1A
7 adipose tissue MP:0005375 10.13 ALMS1 BSCL2 CEL HNF1A INS KCNJ11
8 mortality/aging MP:0010768 10.1 BSCL2 GATA6 GCK HNF1A HNF1B HNF4A
9 digestive/alimentary MP:0005381 10.08 BSCL2 CEL HNF1A INS LMNA PDX1
10 muscle MP:0005369 9.8 GATA6 HNF1A HNF1B INS KCNJ11 LMNA
11 no phenotypic analysis MP:0003012 9.7 ABCC8 BSCL2 HNF1A INS KCNJ11 MC4R
12 renal/urinary system MP:0005367 9.61 ALMS1 BSCL2 GCK HNF1A HNF1B HNF4A
13 reproductive system MP:0005389 9.23 ALMS1 BSCL2 GATA6 HNF1A INS LMNA

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
Glipizide Approved, Investigational Phase 4 29094-61-9 3478
2
Glyburide Approved Phase 4 10238-21-8 3488
3 Hypoglycemic Agents Phase 4
4
Liraglutide Approved Phase 2, Phase 3 204656-20-2 44147092
5
Glimepiride Approved Phase 2, Phase 3 93479-97-1 3476
6 Hormone Antagonists Phase 2, Phase 3
7 Hormones Phase 2, Phase 3
8 Incretins Phase 2, Phase 3
9 Glucagon-Like Peptide 1 Phase 2, Phase 3
10 Anti-Arrhythmia Agents Phase 2, Phase 3
11 Immunologic Factors Phase 2, Phase 3
12 Immunosuppressive Agents Phase 2, Phase 3
13
Glucagon Approved Phase 1 16941-32-5
14 Gastrointestinal Agents Phase 1
15
Insulin aspart Approved 116094-23-6 16132418
16
Insulin detemir Approved 169148-63-4 5311023
17
Insulin glargine Approved 160337-95-1
18
Insulin lispro Approved 133107-64-9
19
Adenosine Approved, Investigational 58-61-7 60961
20 Insulin, Isophane
21 Isophane insulin, beef
22 Isophane Insulin, Human
23 Insulin, Globin Zinc
24 insulin
25 Immunoglobulins
26 Antibodies
27 Autoantibodies
28 Vasodilator Agents
29 Analgesics
30 Neurotransmitter Agents
31
Arginine Investigational, Nutraceutical 74-79-3 6322

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Switching From Insulin to Sulfonylurea in Childhood and Adult Diabetes Due to Variants in the HNF1A, HNF4A, or HNF1B Genes Enrolling by invitation NCT04239586 Phase 4 Sulfonylurea
2 Phase 2 Study: A Double-blind, Randomised, Clinical Cross-over Trial to Investigate the Treatment Potential of Liraglutide Compared to Glimepiride in MODY Patients Completed NCT01610934 Phase 2, Phase 3 liraglutide;Glimepiride
3 Incretin Regulation of Insulin Secretion in Monogenic Diabetes Completed NCT01795144 Phase 1 GLP-1;Exendin 9-39
4 Identification and Genetic, Clinical and Metabolic Characterization of Monogenic Forms of Insulin-dependent Diabetes Unknown status NCT01481623
5 Constitution of a Cohort of Families With Monogenic Diabetes to Identify Novel Causes of Non Auto-immune Diabetes Mellitus in Children and Young Adults Completed NCT02634229
6 Using Pharmacogenetics to Improve Treatment in Early-onset Diabetes Completed NCT01238380
7 Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus Completed NCT00339885
8 Accurate Diagnosis of Diabetes for Appropriate Management Recruiting NCT03988764
9 Genetic Causes of Gestational Diabetes in the Emirati Population Recruiting NCT03589092
10 Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB) Recruiting NCT04021199
11 Impact of Two Standardized Clinical Care Protocols on Pregnancy Outcomes in Women With Monogenic Diabetes MODY2 Recruiting NCT02556840
12 Precision Medicine to Redefine Insulin Secretion and Monogenic Diabetes (PRISM) in Chinese Patients With Young Onset Diabetes Recruiting NCT04049149
13 Understanding Beta-cell Destruction Through the Study of EXtremely Early-onset Type 1 Diabetes (A Musketeers' Memorandum Study) Recruiting NCT03369821
14 Application of UCPCR as a Testing Tool for Identification of MODY Patients in the UAE Active, not recruiting NCT03607604
15 Activating Mutation in the Gene Encoding the Adenosine Tri-phosphate Sensitive Potassium Channel Subunits (SUR 1, Kir 6.2) in Diabetic Patients Under the Age of One Year Not yet recruiting NCT03519217
16 Human Leucocytic Antigen Typing and Mutation of Adenosine Triphosphate Sensitive Potassium Channel Gene in Diabetic Patients Diagnosed Under the Age of One Year. Not yet recruiting NCT03169413

Search NIH Clinical Center for Monogenic Diabetes

Genetic Tests for Monogenic Diabetes

Genetic tests related to Monogenic Diabetes:

# Genetic test Affiliating Genes
1 Monogenic Diabetes 29

Anatomical Context for Monogenic Diabetes

MalaCards organs/tissues related to Monogenic Diabetes:

40
Testes, Pancreas, Liver, Pancreatic Islet, Heart, Kidney, Thyroid

Publications for Monogenic Diabetes

Articles related to Monogenic Diabetes:

(show top 50) (show all 408)
# Title Authors PMID Year
1
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants. 61
32533152 2020
2
A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion. 61
32556999 2020
3
Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy. 61
32086287 2020
4
Detection and analysis of glucose metabolism-related genes in childhood diabetes using targeted next-generation sequencing: In pediatric population-a hospital-based study. 61
32266039 2020
5
Monogenic diabetes: A single center experience from South India. 61
32418360 2020
6
Altered cortisol metabolism in individuals with HNF1A-MODY. 61
32395877 2020
7
A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes. 61
31825128 2020
8
A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome. 61
32441669 2020
9
A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA. 61
32524025 2020
10
Neonatal diabetes due to potassium channel mutation: response to sulfonylurea according to the genotype. 61
32418263 2020
11
Gene-edited human stem cell-derived β cells from a patient with monogenic diabetes reverse preexisting diabetes in mice. 61
32321868 2020
12
Corneal abnormalities are novel clinical feature in Wolfram syndrome. 61
32335055 2020
13
Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing. 61
32050823 2020
14
Management of mitochondrial diabetes in the era of novel therapies. 61
32331977 2020
15
[Double diabetes - a metabolic challenge]. 61
32365213 2020
16
Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators. 61
32162750 2020
17
Systematic Review of Polygenic Risk Scores for Type 1 and Type 2 Diabetes. 61
32131491 2020
18
Human Physiology of Genetic Defects Causing Beta-cell Dysfunction. 61
31953147 2020
19
Strategies to identify individuals with monogenic diabetes: results of an economic evaluation. 61
32193268 2020
20
From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes. 61
31479665 2020
21
MODY probability calculator for GCK and HNF1A screening in a multiethnic background population. 61
31576961 2020
22
Screening for monogenic diabetes in primary care. 61
31253563 2020
23
Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy. 61
31604004 2020
24
A Missense Mutation in IRS1 is Associated with the Development of Early-Onset Type 2 Diabetes. 61
32411229 2020
25
Glucokinase Deficit Prevalence in Women With Diabetes in Pregnancy: A Matter of Screening Selection. 61
32508747 2020
26
Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia. 61
31586326 2020
27
High Prevalence of a Monogenic Cause in Han Chinese Diagnosed With Type 1 Diabetes, Partly Driven by Nonsyndromic Recessive WFS1 Mutations. 61
31658956 2020
28
Update on clinical screening of maturity-onset diabetes of the young (MODY). 61
32528556 2020
29
Uncommon Presentations of Diabetes: Zebras in the Herd. 61
31975755 2020
30
Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes. 61
31815736 2020
31
A Review of Mouse Models of Monogenic Diabetes and ER Stress Signaling. 61
32180185 2020
32
How Heterogeneity in Glucokinase and Gap-Junction Coupling Determines the Islet [Ca2+] Response. 61
31753287 2019
33
Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population. 61
31276222 2019
34
Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine. 61
31886753 2019
35
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes. 61
31638168 2019
36
The first case of NEUROD1-MODY reported in Latin America. 61
31578821 2019
37
Targeted sequencing identifies novel variants in common and rare MODY genes. 61
31595705 2019
38
Providing quality care for children and adolescents with diabetes from lower-income families in Mexico. 61
31483761 2019
39
Monogenic diabetes mellitus in cystic fibrosis. 61
30269055 2019
40
Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A. 61
31374199 2019
41
How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young. 61
31385057 2019
42
Pediatric Monogenic Diabetes: A Unique Challenge and Opportunity. 61
31426100 2019
43
Updated prevalence of monogenic diabetes in Australia: Fremantle Diabetes Study Phase 2. 61
31321782 2019
44
Type 2 diabetes: a multifaceted disease. 61
31161345 2019
45
[Expert consensus on the diagnosis and management of monogenic diabetes in children and adolescents]. 61
31269549 2019
46
Residual β cell function and monogenic variants in long-duration type 1 diabetes patients. 61
31264968 2019
47
Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis. 61
31291970 2019
48
Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes. 61
31216263 2019
49
HNF1A mutation in a Thai patient with maturity-onset diabetes of the young: A case report. 61
31363388 2019
50
HNF4A Haploinsufficiency in MODY1 Abrogates Liver and Pancreas Differentiation from Patient-Derived Induced Pluripotent Stem Cells. 61
31195238 2019

Variations for Monogenic Diabetes

ClinVar genetic disease variations for Monogenic Diabetes:

6 (show top 50) (show all 444) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BSCL2 NM_032667.6(BSCL2):c.439-1G>CSNV Pathogenic 393432 rs1057524896 11:62460270-62460270 11:62692798-62692798
2 GCK NM_000162.5(GCK):c.1253+2T>ASNV Pathogenic 393449 rs1057524902 7:44185094-44185094 7:44145495-44145495
3 GCK NM_000162.5(GCK):c.1016A>G (p.Glu339Gly)SNV Pathogenic 393450 rs1057524903 7:44186065-44186065 7:44146466-44146466
4 HNF1A NM_000545.6(HNF1A):c.694dup (p.Leu232fs)duplication Pathogenic 393456 rs1057524908 12:121431489-121431490 12:120993686-120993687
5 GCK NM_000162.5(GCK):c.680-1G>ASNV Pathogenic 393452 rs1057524905 7:44187433-44187433 7:44147834-44147834
6 MC4R NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)SNV Pathogenic 562356 rs369841551 18:58039117-58039117 18:60371884-60371884
7 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)SNV Pathogenic 14486 rs11575937 1:156106776-156106776 1:156136985-156136985
8 HNF1A NM_000545.6(HNF1A):c.815G>A (p.Arg272His)SNV Pathogenic 14931 rs137853238 12:121432068-121432068 12:120994265-120994265
9 LMNA NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)SNV Pathogenic/Likely pathogenic 66762 rs267607555 1:156105800-156105800 1:156136009-156136009
10 GCK NM_000162.5(GCK):c.128G>A (p.Arg43His)SNV Likely pathogenic 393453 rs764232985 7:44192980-44192980 7:44153381-44153381
11 GCK NM_000162.5(GCK):c.1361C>A (p.Ala454Glu)SNV Likely pathogenic 393447 rs1057524900 7:44184772-44184772 7:44145173-44145173
12 GCK NM_000162.5(GCK):c.1344del (p.Ala449fs)deletion Likely pathogenic 393448 rs1057524901 7:44184789-44184789 7:44145190-44145190
13 INS NM_000207.3(INS):c.278A>G (p.Glu93Gly)SNV Likely pathogenic 393455 rs1057524907 11:2181137-2181137 11:2159907-2159907
14 CAV1 NM_001753.5(CAV1):c.500T>C (p.Phe167Ser)SNV Conflicting interpretations of pathogenicity 541324 rs201966419 7:116199304-116199304 7:116559250-116559250
15 HADH NM_005327.5(HADH):c.643C>A (p.Pro215Thr)SNV Conflicting interpretations of pathogenicity 549514 rs140413151 4:108948850-108948850 4:108027694-108027694
16 ALMS1 NM_015120.4(ALMS1):c.3815C>A (p.Pro1272Gln)SNV Conflicting interpretations of pathogenicity 529367 rs372563916 2:73677466-73677466 2:73450339-73450339
17 ALMS1 NM_015120.4(ALMS1):c.3467A>C (p.His1156Pro)SNV Conflicting interpretations of pathogenicity 529374 rs553406974 2:73677118-73677118 2:73449991-73449991
18 PPP1R3A NM_002711.4(PPP1R3A):c.1217A>C (p.Glu406Ala)SNV Conflicting interpretations of pathogenicity 549521 rs138812345 7:113519930-113519930 7:113879875-113879875
19 GLIS3 NM_001042413.2(GLIS3):c.1199A>G (p.His400Arg)SNV Conflicting interpretations of pathogenicity 549530 rs376031632 9:4118279-4118279 9:4118279-4118279
20 GCK NM_000162.5(GCK):c.748C>T (p.Arg250Cys)SNV Conflicting interpretations of pathogenicity 393451 rs1057524904 7:44187364-44187364 7:44147765-44147765
21 ALMS1 NM_015120.4(ALMS1):c.1612C>G (p.Leu538Val)SNV Conflicting interpretations of pathogenicity 403950 rs202111717 2:73675263-73675263 2:73448136-73448136
22 ABCC8 NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)SNV Conflicting interpretations of pathogenicity 393429 rs59852838 11:17474775-17474775 11:17453228-17453228
23 ABCC8 NM_000352.6(ABCC8):c.375C>G (p.His125Gln)SNV Conflicting interpretations of pathogenicity 393430 rs60637558 11:17491685-17491685 11:17470138-17470138
24 GCK NM_000162.5(GCK):c.122T>C (p.Met41Thr)SNV Conflicting interpretations of pathogenicity 393454 rs1057524906 7:44192986-44192986 7:44153387-44153387
25 ALMS1 NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser)SNV Conflicting interpretations of pathogenicity 426619 rs199874928 2:73827901-73827901 2:73600774-73600774
26 PPARG NM_015869.4(PPARG):c.1003G>C (p.Val335Leu)SNV Conflicting interpretations of pathogenicity 436394 rs139894525 3:12458386-12458386 3:12416887-12416887
27 RFX6 NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)SNV Conflicting interpretations of pathogenicity 436531 rs146115506 6:117246670-117246670 6:116925507-116925507
28 ABCC8 NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)SNV Conflicting interpretations of pathogenicity 434043 rs142272833 11:17415289-17415289 11:17393742-17393742
29 ABCC8 NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)SNV Conflicting interpretations of pathogenicity 434053 rs769518471 11:17428605-17428605 11:17407058-17407058
30 ALMS1 NM_015120.4(ALMS1):c.4225G>A (p.Val1409Ile)SNV Conflicting interpretations of pathogenicity 459867 rs200529564 2:73677876-73677876 2:73450749-73450749
31 ALMS1 NM_015120.4(ALMS1):c.4319A>C (p.Tyr1440Ser)SNV Conflicting interpretations of pathogenicity 459868 rs201971114 2:73677970-73677970 2:73450843-73450843
32 AGPAT2 NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val)SNV Conflicting interpretations of pathogenicity 393423 rs142417583 9:139568232-139568232 9:136673780-136673780
33 AGPAT2 NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu)SNV Conflicting interpretations of pathogenicity 393424 rs142248792 9:139569208-139569208 9:136674756-136674756
34 GLIS3 NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His)SNV Conflicting interpretations of pathogenicity 393416 rs138497710 9:4118287-4118287 9:4118287-4118287
35 AGPAT2 NM_006412.4(AGPAT2):c.199G>A (p.Val67Met)SNV Conflicting interpretations of pathogenicity 393427 rs563539429 9:139571992-139571992 9:136677540-136677540
36 GLIS3 NM_001042413.2(GLIS3):c.2095C>T (p.Arg699Cys)SNV Conflicting interpretations of pathogenicity 393413 rs145867412 9:3898724-3898724 9:3898724-3898724
37 GLIS3 NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)SNV Conflicting interpretations of pathogenicity 393419 rs148168366 9:4286194-4286194 9:4286194-4286194
38 SLC19A2 NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu)SNV Conflicting interpretations of pathogenicity 393365 rs61734338 1:169439408-169439408 1:169470170-169470170
39 KLF11 NM_003597.5(KLF11):c.953T>G (p.Leu318Arg)SNV Conflicting interpretations of pathogenicity 393368 rs144431930 2:10188417-10188417 2:10048290-10048290
40 ALMS1 NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly)SNV Conflicting interpretations of pathogenicity 393370 rs115444326 2:73675692-73675692 2:73448565-73448565
41 ALMS1 NM_015120.4(ALMS1):c.4166C>T (p.Pro1389Leu)SNV Conflicting interpretations of pathogenicity 393372 rs377354387 2:73677817-73677817 2:73450690-73450690
42 ALMS1 NM_015120.4(ALMS1):c.8260C>A (p.His2754Asn)SNV Conflicting interpretations of pathogenicity 393376 rs200718841 2:73717343-73717343 2:73490216-73490216
43 ALMS1 NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg)SNV Conflicting interpretations of pathogenicity 393378 rs200586877 2:73718475-73718475 2:73491348-73491348
44 HADH NM_005327.5(HADH):c.662G>A (p.Arg221His)SNV Conflicting interpretations of pathogenicity 393392 rs76476980 4:108948869-108948869 4:108027713-108027713
45 RFX6 NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu)SNV Conflicting interpretations of pathogenicity 393396 rs201522681 6:117250084-117250084 6:116928921-116928921
46 LMNA NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)SNV Conflicting interpretations of pathogenicity 66862 rs267607613 1:156107469-156107469 1:156137678-156137678
47 WFS1 NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln)SNV Conflicting interpretations of pathogenicity 45443 rs146670741 4:6303408-6303408 4:6301681-6301681
48 BSCL2 NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro)SNV Conflicting interpretations of pathogenicity 128532 rs145649423 11:62457948-62457948 11:62690476-62690476
49 GATA6 NM_005257.5(GATA6):c.592C>G (p.Leu198Val)SNV Conflicting interpretations of pathogenicity 30208 rs387906814 18:19751697-19751697 18:22171736-22171736
50 LMNA NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)SNV Conflicting interpretations of pathogenicity 14527 rs142000963 1:156108510-156108510 1:156138719-156138719

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 PDX1 KCNJ11 INS GCK ABCC8
2 12.29 WFS1 PDX1 INS HNF4A HNF1A BSCL2
3
Show member pathways
11.83 PDX1 INS HNF4A HNF1B HNF1A GCK
4 11.79 LMNA INS HNF1A BSCL2
5 11.78 PDX1 INS HNF1B
6
Show member pathways
11.63 PDX1 INS HNF4A HNF1B HNF1A GCK
7 11.33 LMNA KCNJ11 ABCC8
8
Show member pathways
11.21 PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
9 11.14 PDX1 KCNJ11 INS HNF4A HNF1A GCK
10 10.8 MC4R INS
11 10.34 HNF4A HNF1A

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 KCNJ11 ABCC8

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 WFS1 PDX1 HNF1B HNF1A GATA6
2 positive regulation of transcription, DNA-templated GO:0045893 9.96 PDX1 HNF4A HNF1B HNF1A GATA6
3 response to drug GO:0042493 9.85 PDX1 KCNJ11 HNF1B GATA6 ABCC8
4 liver development GO:0001889 9.71 PDX1 HNF1B HNF1A GATA6
5 response to glucose GO:0009749 9.67 PDX1 HNF4A HNF1B HNF1A
6 regulation of insulin secretion GO:0050796 9.62 KCNJ11 HNF4A GCK ABCC8
7 endocrine pancreas development GO:0031018 9.61 PDX1 HNF1A
8 cellular glucose homeostasis GO:0001678 9.61 GCK ABCC8
9 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.6 WFS1 PDX1
10 negative regulation of gluconeogenesis GO:0045721 9.59 INS GCK
11 negative regulation of lipid catabolic process GO:0050995 9.58 INS BSCL2
12 positive regulation of glycogen biosynthetic process GO:0045725 9.58 INS GCK
13 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.57 HNF1B HNF1A
14 glucose metabolic process GO:0006006 9.56 PDX1 KCNJ11 INS GCK
15 hepatocyte differentiation GO:0070365 9.55 HNF4A HNF1B
16 inorganic cation transmembrane transport GO:0098662 9.54 KCNJ11 ABCC8
17 type B pancreatic cell differentiation GO:0003309 9.52 PDX1 GATA6
18 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.51 WFS1 PDX1
19 negative regulation of feeding behavior GO:2000252 9.49 MC4R INS
20 detection of glucose GO:0051594 9.48 PDX1 GCK
21 insulin secretion GO:0030073 9.46 PDX1 MC4R HNF1B HNF1A
22 regulation of pronephros size GO:0035565 9.43 HNF1B HNF1A
23 glucose homeostasis GO:0042593 9.43 WFS1 PDX1 INS HNF4A HNF1A GCK
24 pancreas development GO:0031016 9.02 WFS1 PDX1 HNF1B HNF1A GATA6

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 9.65 PDX1 HNF4A HNF1B HNF1A GATA6
2 transcription regulatory region DNA binding GO:0044212 9.26 HNF4A HNF1B HNF1A GATA6
3 cation-transporting ATPase activity GO:0019829 9.16 KCNJ11 ABCC8
4 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 KCNJ11 ABCC8

Sources for Monogenic Diabetes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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