Aliases & Classifications for Monogenic Diabetes

MalaCards integrated aliases for Monogenic Diabetes:

Name: Monogenic Diabetes 20 29 6 17

Classifications:



External Ids:

Summaries for Monogenic Diabetes

GARD : 20 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 hypoglycemia and wolfram syndrome. An important gene associated with Monogenic Diabetes is GCK (Glucokinase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Glucose / Energy Metabolism. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include pancreas, adipocyte and pancreatic islet, and related phenotypes are Reduced mammosphere formation 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 120)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 30.4 KCNJ11 INS GCK ABCC8
2 wolfram syndrome 30.4 KCNJ11 INS GCK
3 permanent neonatal diabetes mellitus 30.4 ZFP57 PDX1 KCNJ11 INS-IGF2 INS HNF4A
4 diabetes mellitus, ketosis-prone 30.2 KCNJ11 INS ABCC8
5 gestational diabetes 30.0 KCNJ11 INS HNF4A HNF1A GCK ABCC8
6 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 30.0 KCNJ11 INS ABCC8
7 hyperinsulinism 29.8 KCNJ11 INS HNF4A HNF1A GCK ABCC8
8 insulinoma 29.8 PDX1 INS HNF1A GCK ABCC8
9 hyperglycemia 29.7 PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
10 type 1 diabetes mellitus 29.7 PDX1 INS HNF4A HNF1A GCK
11 hyperproinsulinemia 29.7 INS-IGF2 INS
12 glucose metabolism disease 29.6 KCNJ11 INS GCK ABCC8
13 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.6 LMNA INS BSCL2
14 maturity-onset diabetes of the young 29.5 ZFP57 PDX1 KLF11 KCNJ11 INS-IGF2 INS
15 neonatal diabetes 29.5 ZFP57 PDX1 KLF11 KCNJ11 INS-IGF2 INS
16 maturity-onset diabetes of the young, type 2 29.2 PDX1 KLF11 KCNJ11 INS HNF4A HNF1B
17 renal cysts and diabetes syndrome 29.2 PDX1 KLF11 KCNJ11 HNF4A HNF1B HNF1A
18 familial partial lipodystrophy 29.2 LMNA INS BSCL2
19 hyperinsulinemic hypoglycemia 29.1 PDX1 KCNJ11 INS HNF4A HNF1A GCK
20 pancreatic agenesis 29.0 PDX1 KCNJ11 INS HNF4A HNF1B GCK
21 maturity-onset diabetes of the young, type 1 29.0 PDX1 KLF11 KCNJ11 INS HNF4A HNF1B
22 maturity-onset diabetes of the young, type 3 28.9 PDX1 KLF11 KCNJ11 INS HNF4A HNF1B
23 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 28.9 PDX1 KLF11 KCNJ11 HNF4A HNF1B GCK
24 congenital generalized lipodystrophy 28.8 LMNA INS HNRNPUL2-BSCL2 BSCL2
25 maturity-onset diabetes of the young, type 4 28.7 PDX1 KLF11 KCNJ11 INS HNF4A HNF1B
26 body mass index quantitative trait locus 11 28.1 MC4R LMNA KCNJ11 INS HNF4A HNF1A
27 maturity-onset diabetes of the young, type 10 28.1 PDX1 KLF11 KCNJ11 INS-IGF2 INS HNF4A
28 type 2 diabetes mellitus 27.6 PDX1 MC4R LMNA KCNJ11 INS HNF4A
29 diabetes mellitus 27.1 ZFP57 PDX1 MC4R LMNA KLF11 KCNJ11
30 type 1 diabetes mellitus 11 10.3 PDX1 HNF1A
31 hepatic adenomas, familial 10.2 HNF4A HNF1A
32 munchausen by proxy 10.2 KCNJ11 GCK ABCC8
33 fructose-1,6-bisphosphatase deficiency 10.2 GCK ABCC8
34 hyperinsulinemic hypoglycemia, familial, 7 10.2 KCNJ11 GCK ABCC8
35 hyperinsulinemic hypoglycemia, familial, 6 10.2 KCNJ11 GCK ABCC8
36 cardiomyopathy, dilated, 1o 10.2 KCNJ11 ABCC8
37 wolfram syndrome 1 10.2
38 branchiootic syndrome 1 10.2
39 maturity-onset diabetes of the young, type 14 10.1 PDX1 KLF11 GCK
40 megaloblastic anemia 10.1
41 acute insulin response 10.1 KCNJ11 INS ABCC8
42 renal glucosuria 10.1 INS HNF1B HNF1A
43 asphyxia neonatorum 10.1 KCNJ11 INS ABCC8
44 coronary artery vasospasm 10.1 KCNJ11 ABCC8
45 prediabetes syndrome 10.1 INS HNF4A GCK
46 fanconi-bickel syndrome 10.1 INS ABCC8
47 thiamine-responsive megaloblastic anemia syndrome 10.0
48 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
49 hyperinsulinemic hypoglycemia, familial, 5 10.0
50 hyperinsulinemic hypoglycemia, familial, 4 10.0

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 9.1 ABCC8 CEL HNF4A KCNJ11 LMNA MC4R

MGI Mouse Phenotypes related to Monogenic Diabetes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 ABCC8 BSCL2 CEL GATA6 GCK HNF1A
2 homeostasis/metabolism MP:0005376 10.17 ABCC8 BSCL2 CEL GATA6 GCK HNF1A
3 cellular MP:0005384 10.13 BSCL2 GATA6 GCK HNF1A HNF1B HNF4A
4 endocrine/exocrine gland MP:0005379 10.1 ABCC8 BSCL2 GCK HNF1A HNF1B HNF4A
5 adipose tissue MP:0005375 10 BSCL2 CEL HNF1A INS KCNJ11 LMNA
6 liver/biliary system MP:0005370 10 BSCL2 CEL GATA6 GCK HNF1A HNF1B
7 muscle MP:0005369 9.7 GATA6 HNF1A HNF1B INS KCNJ11 LMNA
8 no phenotypic analysis MP:0003012 9.5 ABCC8 BSCL2 HNF1A INS KCNJ11 MC4R
9 renal/urinary system MP:0005367 9.23 BSCL2 GCK HNF1A HNF1B HNF4A INS

Drugs & Therapeutics for Monogenic Diabetes

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin Phase 2
2 Insulin, Globin Zinc Phase 2
3
Glucagon Approved Phase 1 16941-32-5
4 Hormone Antagonists Phase 1
5 Glucagon-Like Peptide 1 Phase 1
6 Incretins Phase 1
7 Hormones Phase 1
8 Gastrointestinal Agents Phase 1
9
Insulin aspart Approved 116094-23-6 16132418
10
Insulin detemir Approved 169148-63-4 5311023
11
Insulin glargine Approved 160337-95-1
12
Insulin lispro Approved 133107-64-9
13 Isophane insulin, beef
14 Isophane Insulin, Human
15 Hypoglycemic Agents
16 Insulin, Isophane
17 Antibodies
18 Immunoglobulins
19 Autoantibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Dorzagliatin on 1st Phase Insulin and Beta-cell Glucose Sensitivity in Individuals With Recent-onset Type 2 Diabetes and Monogenic Diabetes Recruiting NCT04531631 Phase 2 Dorzagliatin;placebo
2 Incretin Regulation of Insulin Secretion in Monogenic Diabetes Completed NCT01795144 Phase 1 GLP-1;Exendin 9-39
3 Impact of Two Standardized Clinical Care Protocols on Pregnancy Outcomes in Women With Monogenic Diabetes MODY2 Unknown status NCT02556840
4 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
5 Understanding Beta-cell Destruction Through the Study of EXtremely Early-onset Type 1 Diabetes (A Musketeers' Memorandum Study) Recruiting NCT03369821
6 Precision Medicine to Redefine Insulin Secretion and Monogenic Diabetes (PRISM) in Chinese Patients With Young Onset Diabetes Recruiting NCT04049149

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
Pancreas, Adipocyte, Pancreatic Islet

Publications for Monogenic Diabetes

Articles related to Monogenic Diabetes:

(show top 50) (show all 526)
# Title Authors PMID Year
1
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. 6 61
27106716 2016
2
INS-gene mutations: from genetics and beta cell biology to clinical disease. 61 6
25542748 2015
3
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. 61 6
25306193 2014
4
Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. 61 6
22035297 2012
5
Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. 6 61
22611063 2012
6
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. 6 61
18162506 2008
7
Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort. 6
27654141 2017
8
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. 6
25015100 2014
9
Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. 6
24430320 2014
10
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. 6
23348805 2013
11
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 6
23853504 2013
12
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 6
23313286 2013
13
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. 6
24080738 2013
14
Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. 6
22700598 2012
15
Heterozygous ABCC8 mutations are a cause of MODY. 6
21989597 2012
16
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. 6
23430896 2012
17
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. 6
22493702 2012
18
Susceptibility of glucokinase-MODY mutants to inactivation by oxidative stress in pancreatic β-cells. 6
22028181 2011
19
Mutational analysis of allosteric activation and inhibition of glucokinase. 6
21831042 2011
20
Insight into the biochemical characteristics of a novel glucokinase gene mutation. 6
21104275 2011
21
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation. 6
22389783 2011
22
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. 6
20337973 2010
23
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). 6
20226046 2010
24
Genotype-phenotype correlations in laminopathies: how does fate translate? 6
20074070 2010
25
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. 6
19790256 2009
26
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. 6
19564454 2009
27
Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients. 6
19358091 2009
28
Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes. 6
19342262 2009
29
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 6
19201734 2009
30
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 6
19339519 2009
31
Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. 6
19150152 2009
32
Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type. 6
19187021 2009
33
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. 6
18399931 2008
34
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. 6
18192540 2008
35
The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. 6
18003757 2008
36
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. 6
18025464 2007
37
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. 6
17573900 2007
38
Insulin gene mutations as a cause of permanent neonatal diabetes. 6
17855560 2007
39
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. 6
17446535 2007
40
Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity. 6
17389332 2007
41
New ABCC8 mutations in relapsing neonatal diabetes and clinical features. 6
17389331 2007
42
Six novel mutations in the GCK gene in MODY patients. 6
17204055 2007
43
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. 6
16965331 2006
44
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 6
16885549 2006
45
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. 6
16602010 2006
46
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. 6
16731834 2006
47
Laminopathies: multisystem dystrophy syndromes. 6
16364671 2006
48
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 6
16415042 2006
49
Homeodomain revisited: a lesson from disease-causing mutations. 6
15726414 2005
50
Identification and characterization of the ATP-binding site in human pancreatic glucokinase. 6
15752705 2005

Variations for Monogenic Diabetes

ClinVar genetic disease variations for Monogenic Diabetes:

6 (show top 50) (show all 461)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GCK NM_000162.5(GCK):c.1016A>G (p.Glu339Gly) SNV Pathogenic 393450 rs1057524903 GRCh37: 7:44186065-44186065
GRCh38: 7:44146466-44146466
2 HNF1A NM_000545.6(HNF1A):c.694dup (p.Leu232fs) Duplication Pathogenic 393456 rs1057524908 GRCh37: 12:121431489-121431490
GRCh38: 12:120993686-120993687
3 GCK NM_000162.5(GCK):c.1253+2T>A SNV Pathogenic 393449 rs1057524902 GRCh37: 7:44185094-44185094
GRCh38: 7:44145495-44145495
4 GCK NM_000162.5(GCK):c.680-1G>A SNV Pathogenic 393452 rs1057524905 GRCh37: 7:44187433-44187433
GRCh38: 7:44147834-44147834
5 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
6 BSCL2 , HNRNPUL2-BSCL2 NM_032667.6(BSCL2):c.439-1G>C SNV Pathogenic 393432 rs1057524896 GRCh37: 11:62460270-62460270
GRCh38: 11:62692798-62692798
7 HNF1A NM_000545.6(HNF1A):c.815G>A (p.Arg272His) SNV Pathogenic 14931 rs137853238 GRCh37: 12:121432068-121432068
GRCh38: 12:120994265-120994265
8 MC4R NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) SNV Pathogenic 562356 rs369841551 GRCh37: 18:58039117-58039117
GRCh38: 18:60371884-60371884
9 GCK NM_000162.5(GCK):c.128G>A (p.Arg43His) SNV Likely pathogenic 393453 rs764232985 GRCh37: 7:44192980-44192980
GRCh38: 7:44153381-44153381
10 GCK NM_000162.5(GCK):c.214G>A (p.Gly72Arg) SNV Likely pathogenic 36209 rs193922289 GRCh37: 7:44192019-44192019
GRCh38: 7:44152420-44152420
11 GCK NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) SNV Likely pathogenic 36188 rs193922272 GRCh37: 7:44185109-44185109
GRCh38: 7:44145510-44145510
12 ABCC8 NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) SNV Likely pathogenic 585346 rs193922401 GRCh37: 11:17417461-17417461
GRCh38: 11:17395914-17395914
13 ABCC8 NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) SNV Likely pathogenic 9105 rs137852673 GRCh37: 11:17417462-17417462
GRCh38: 11:17395915-17395915
14 GCK NM_000162.5(GCK):c.682A>G (p.Thr228Ala) SNV Likely pathogenic 447413 rs1332966015 GRCh37: 7:44187430-44187430
GRCh38: 7:44147831-44147831
15 GCK NM_000162.5(GCK):c.748C>T (p.Arg250Cys) SNV Likely pathogenic 393451 rs1057524904 GRCh37: 7:44187364-44187364
GRCh38: 7:44147765-44147765
16 LMNA NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) SNV Likely pathogenic 66762 rs267607555 GRCh37: 1:156105800-156105800
GRCh38: 1:156136009-156136009
17 GCK NM_000162.5(GCK):c.1361C>A (p.Ala454Glu) SNV Likely pathogenic 393447 rs1057524900 GRCh37: 7:44184772-44184772
GRCh38: 7:44145173-44145173
18 INS-IGF2 , INS NM_000207.3(INS):c.278A>G (p.Glu93Gly) SNV Likely pathogenic 393455 rs1057524907 GRCh37: 11:2181137-2181137
GRCh38: 11:2159907-2159907
19 GCK NM_000162.5(GCK):c.1344del (p.Ala449fs) Deletion Likely pathogenic 393448 rs1057524901 GRCh37: 7:44184789-44184789
GRCh38: 7:44145190-44145190
20 GCK NM_000162.5(GCK):c.122T>C (p.Met41Thr) SNV Likely pathogenic 393454 rs1057524906 GRCh37: 7:44192986-44192986
GRCh38: 7:44153387-44153387
21 GLIS3 NM_001042413.2(GLIS3):c.844C>G (p.Pro282Ala) SNV Uncertain significance 366990 rs143051164 GRCh37: 9:4118634-4118634
GRCh38: 9:4118634-4118634
22 KLF11 NM_003597.5(KLF11):c.953T>G (p.Leu318Arg) SNV Uncertain significance 393368 rs144431930 GRCh37: 2:10188417-10188417
GRCh38: 2:10048290-10048290
23 HNF1A NM_000545.6(HNF1A):c.616T>A (p.Trp206Arg) SNV Uncertain significance 393434 rs1057524898 GRCh37: 12:121431412-121431412
GRCh38: 12:120993609-120993609
24 RFX6 NM_173560.4(RFX6):c.1319A>G (p.Tyr440Cys) SNV Uncertain significance 393394 rs1018054636 GRCh37: 6:117241609-117241609
GRCh38: 6:116920446-116920446
25 PAX4 NM_001366110.1(PAX4):c.128T>C (p.Ile43Thr) SNV Uncertain significance 393409 rs1057524894 GRCh37: 7:127255471-127255471
GRCh38: 7:127615417-127615417
26 GLIS3 NM_001042413.2(GLIS3):c.1330C>T (p.Pro444Ser) SNV Uncertain significance 393414 rs755318788 GRCh37: 9:4118148-4118148
GRCh38: 9:4118148-4118148
27 GLIS3 , GLIS3-AS1 NM_001042413.2(GLIS3):c.2095C>T (p.Arg699Cys) SNV Uncertain significance 393413 rs145867412 GRCh37: 9:3898724-3898724
GRCh38: 9:3898724-3898724
28 AGPAT2 NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu) SNV Uncertain significance 393424 rs142248792 GRCh37: 9:139569208-139569208
GRCh38: 9:136674756-136674756
29 FOXP3 NM_014009.3(FOXP3):c.409G>A (p.Ala137Thr) SNV Uncertain significance 393445 rs1057524899 GRCh37: X:49113929-49113929
GRCh38: X:49257472-49257472
30 EIF2AK3 NM_004836.7(EIF2AK3):c.440T>G (p.Val147Gly) SNV Uncertain significance 393383 rs1057524886 GRCh37: 2:88895180-88895180
GRCh38: 2:88595662-88595662
31 LEPR NM_002303.5(LEPR):c.3479T>C (p.Met1160Thr) SNV Uncertain significance 298003 rs145685060 GRCh37: 1:66102679-66102679
GRCh38: 1:65636996-65636996
32 INSR NM_000208.4(INSR):c.2564G>A (p.Gly855Asp) SNV Uncertain significance 393443 rs201667363 GRCh37: 19:7141806-7141806
GRCh38: 19:7141795-7141795
33 BLK NM_001715.3(BLK):c.154C>A (p.Pro52Thr) SNV Uncertain significance 393410 rs375173243 GRCh37: 8:11403591-11403591
GRCh38: 8:11546082-11546082
34 GCK NM_000162.5(GCK):c.918_919delinsAT (p.Leu307Phe) Indel Uncertain significance 393397 rs1057524892 GRCh37: 7:44186162-44186163
GRCh38: 7:44146563-44146564
35 CAVIN1 NM_012232.6(CAVIN1):c.553_570dup (p.Glu185_Glu190dup) Duplication Uncertain significance 393442 rs537998274 GRCh37: 17:40557307-40557308
GRCh38: 17:42405289-42405290
36 SLC19A2 NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) SNV Uncertain significance 393365 rs61734338 GRCh37: 1:169439408-169439408
GRCh38: 1:169470170-169470170
37 GLIS3 NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His) SNV Uncertain significance 393416 rs138497710 GRCh37: 9:4118287-4118287
GRCh38: 9:4118287-4118287
38 SLC2A2 NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) SNV Uncertain significance 16090 rs121909741 GRCh37: 3:170724960-170724960
GRCh38: 3:171007171-171007171
39 AGPAT2 NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg) SNV Uncertain significance 393425 rs114782902 GRCh37: 9:139571546-139571546
GRCh38: 9:136677094-136677094
40 HNF1A NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys) SNV Uncertain significance 36835 rs140491072 GRCh37: 12:121434074-121434074
GRCh38: 12:120996271-120996271
41 HNF4A NM_175914.4(HNF4A):c.844G>A (p.Asp282Asn) SNV Uncertain significance 393444 rs145902391 GRCh37: 20:43052675-43052675
GRCh38: 20:44424035-44424035
42 AGPAT2 NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) SNV Uncertain significance 393423 rs142417583 GRCh37: 9:139568232-139568232
GRCh38: 9:136673780-136673780
43 LEPR NM_001003679.3(LEPR):c.1055G>T (p.Cys352Phe) SNV Uncertain significance 393363 rs1057524881 GRCh37: 1:66067135-66067135
GRCh38: 1:65601452-65601452
44 RFX6 NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu) SNV Uncertain significance 393396 rs201522681 GRCh37: 6:117250084-117250084
GRCh38: 6:116928921-116928921
45 KLF11 NM_003597.5(KLF11):c.608_609delinsAG (p.Gly203Glu) Indel Uncertain significance 393367 rs1057524882 GRCh37: 2:10188072-10188073
GRCh38: 2:10047945-10047946
46 CEL NM_001807.5(CEL):c.860C>T (p.Thr287Met) SNV Uncertain significance 393420 rs773990119 GRCh37: 9:135942557-135942557
GRCh38: 9:133067170-133067170
47 GLIS3 NM_001042413.2(GLIS3):c.590A>T (p.Asp197Val) SNV Uncertain significance 393418 rs761151597 GRCh37: 9:4125740-4125740
GRCh38: 9:4125740-4125740
48 PTF1A NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) SNV Uncertain significance 130054 rs535090775 GRCh37: 10:23481728-23481728
GRCh38: 10:23192799-23192799
49 GLIS3 NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) SNV Uncertain significance 393419 rs148168366 GRCh37: 9:4286194-4286194
GRCh38: 9:4286194-4286194
50 CAV1 NM_001753.5(CAV1):c.43A>G (p.Thr15Ala) SNV Uncertain significance 393407 rs760934779 GRCh37: 7:116166591-116166591
GRCh38: 7:116526537-116526537

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 12.21 PDX1 INS HNF4A HNF1A BSCL2
3
Show member pathways
11.83 PDX1 INS HNF4A HNF1B HNF1A GCK
4 11.79 PDX1 INS HNF1B
5 11.79 LMNA INS HNF1A BSCL2
6
Show member pathways
11.63 PDX1 INS HNF4A HNF1B HNF1A GCK
7 11.33 LMNA KCNJ11 ABCC8
8
Show member pathways
11.26 PDX1 KCNJ11 INS-IGF2 INS HNF4A HNF1B
9 11.14 PDX1 KCNJ11 INS HNF4A HNF1A GCK
10 10.78 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 chromatin GO:0000785 9.5 ZFP57 PDX1 KLF11 HNF4A HNF1B HNF1A
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.09 ZFP57 PDX1 KLF11 HNF4A HNF1B HNF1A
2 positive regulation of transcription, DNA-templated GO:0045893 10 PDX1 HNF4A HNF1B HNF1A GATA6
3 response to drug GO:0042493 9.85 PDX1 KCNJ11 HNF1B GATA6 ABCC8
4 response to glucose GO:0009749 9.7 PDX1 HNF4A HNF1A
5 liver development GO:0001889 9.62 PDX1 HNF1B HNF1A GATA6
6 cellular glucose homeostasis GO:0001678 9.61 GCK ABCC8
7 insulin secretion GO:0030073 9.61 PDX1 HNF1B HNF1A
8 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.59 HNF1B HNF1A
9 negative regulation of lipid catabolic process GO:0050995 9.58 INS BSCL2
10 negative regulation of gluconeogenesis GO:0045721 9.58 INS GCK
11 inorganic cation transmembrane transport GO:0098662 9.57 KCNJ11 ABCC8
12 positive regulation of glycogen biosynthetic process GO:0045725 9.56 INS GCK
13 regulation of insulin secretion GO:0050796 9.56 KCNJ11 HNF4A GCK ABCC8
14 hepatocyte differentiation GO:0070365 9.54 HNF4A HNF1B
15 endocrine pancreas development GO:0031018 9.54 PDX1 HNF1B HNF1A
16 type B pancreatic cell differentiation GO:0003309 9.51 PDX1 GATA6
17 negative regulation of feeding behavior GO:2000252 9.49 MC4R INS
18 detection of glucose GO:0051594 9.48 PDX1 GCK
19 glucose metabolic process GO:0006006 9.46 PDX1 KCNJ11 INS GCK
20 regulation of pronephros size GO:0035565 9.4 HNF1B HNF1A
21 glucose homeostasis GO:0042593 9.35 PDX1 INS HNF4A HNF1A GCK
22 pancreas development GO:0031016 8.92 PDX1 HNF1B HNF1A GATA6

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 9.91 PDX1 KLF11 HNF4A HNF1B HNF1A GATA6
2 sequence-specific DNA binding GO:0043565 9.72 PDX1 HNF4A HNF1B HNF1A GATA6
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 ZFP57 PDX1 KLF11 HNF4A HNF1B HNF1A
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.67 KLF11 HNF4A HNF1A GATA6
5 chromatin binding GO:0003682 9.65 ZFP57 PDX1 HNF4A HNF1A GATA6
6 cation-transporting ATPase activity GO:0019829 9.4 KCNJ11 ABCC8
7 DNA-binding transcription factor activity GO:0003700 9.1 PDX1 KLF11 HNF4A HNF1B HNF1A GATA6
8 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 KCNJ11 ABCC8

Sources for Monogenic Diabetes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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