MCID: HYP060
MIFTS: 54

Hyperinsulinism

Categories: Endocrine diseases, Metabolic diseases

Aliases & Classifications for Hyperinsulinism

MalaCards integrated aliases for Hyperinsulinism:

Name: Hyperinsulinism 12 54 44 15 71
Hyperinsulinemia 12 29 54 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:2018
MeSH 44 D006946
SNOMED-CT 67 154694003
ICD10 32 E16.1
UMLS 71 C0020459

Summaries for Hyperinsulinism

MalaCards based summary : Hyperinsulinism, also known as hyperinsulinemia, is related to hyperinsulinemic hypoglycemia, familial, 2 and hyperinsulinemic hypoglycemia, familial, 6. An important gene associated with Hyperinsulinism is HNF4A (Hepatocyte Nuclear Factor 4 Alpha), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Aldosterone synthesis and secretion. The drugs lanreotide and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include ovary, skeletal muscle and pancreas, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Hyperinsulinism refers to an above normal level of insulin in the blood of a person or animal. Normal... more...

Related Diseases for Hyperinsulinism

Diseases related to Hyperinsulinism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 611)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 2 33.3 SST KCNJ11 INS HNF4A ABCC8
2 hyperinsulinemic hypoglycemia, familial, 6 32.9 UCP2 SLC16A1 KCNJ11 HADH GLUD1 GCK
3 hyperinsulinemic hypoglycemia, familial, 7 32.7 UCP2 SLC16A1 KCNJ11 HADH GLUD1 GCK
4 3-hydroxyacyl-coa dehydrogenase deficiency 32.3 HADH GLUD1 GCK
5 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 32.0 INSR INS IGFBP3 IGF1
6 hypoglycemia 31.6 SST SLC16A1 KCNJ11 INSR INS IGFBP3
7 insulinoma 31.5 UCP2 SST INS GCK ABCC8
8 hyperinsulinemic hypoglycemia 31.3 SST SLC16A1 KCNJ5 KCNJ11 INSR INS
9 fasting hypoglycemia 31.1 INSR IGF1 GLUD1
10 beckwith-wiedemann syndrome 31.1 KCNJ11 INS IGF1 ABCC8
11 neonatal diabetes 31.0 KCNJ5 KCNJ11 INS GCK ABCC8
12 hyperandrogenism 30.9 SHBG INSR INS IGFBP3 IGFBP1 IGF1
13 atherosclerosis susceptibility 30.9 SERPINE1 LEP INS APOB
14 asphyxia neonatorum 30.8 SLC16A1 KCNJ11 INS HADH ABCC8
15 hypothalamic obesity 30.8 LEP INS IGF1
16 acute insulin response 30.8 UCP2 KCNJ5 KCNJ11 INS ABCC8
17 monogenic diabetes 30.8 KCNJ11 INS HNF4A GCK ABCC8
18 munchausen by proxy 30.7 KCNJ11 GCK ABCC8
19 polycystic ovary syndrome 30.7 SHBG LEP INSR INS IGFBP3 IGFBP1
20 islet cell tumor 30.7 SST INSR INS IGF1
21 hypertriglyceridemia, familial 30.7 SERPINE1 INS APOB
22 factitious disorder 30.7 KCNJ11 INS GCK ABCC8
23 maturity-onset diabetes of the young 30.7 UCP2 SST SLC16A1 LEP KCNJ11 INS
24 non-alcoholic steatohepatitis 30.6 UCP2 SERPINE1 INS IGF1 HNF4A GHRL
25 gestational diabetes 30.6 SHBG LEP KCNJ11 INSR INS IGFBP1
26 coronary heart disease 1 30.6 SERPINE1 INS APOB
27 acanthosis nigricans 30.6 SHBG LEP INSR INS IGF1
28 familial hyperlipidemia 30.6 SERPINE1 LEP INS APOB
29 hyperproinsulinemia 30.5 SHBG INS IGFBP1
30 donohue syndrome 30.5 INSR INS IGFBP3 IGF1 GCK
31 narcolepsy 30.5 SST LEP IGFBP3 GHRL
32 hypopituitarism 30.5 SHBG LEP INS IGFBP3 IGF1
33 arteriosclerosis 30.5 SHBG SERPINE1 INS GHRL APOB
34 hypogonadism 30.5 SHBG LEP INS IGF1
35 ovarian disease 30.4 SHBG LEP INSR INS IGFBP1 IGF1
36 lipid metabolism disorder 30.4 SHBG SERPINE1 LEP INSR INS HNF4A
37 cerebral palsy 30.3 SERPINE1 LEP IGFBP3 IGF1
38 permanent neonatal diabetes mellitus 30.3 KCNJ5 KCNJ11 INS HNF4A GCK ABCC8
39 maturity-onset diabetes of the young, type 1 30.3 LEP KCNJ11 INS HNF4A GCK ABCC8
40 fetal macrosomia 30.3 LEP INSR INS IGFBP3 IGF1 APOB
41 multiple endocrine neoplasia, type i 30.3 SST INS GHRL
42 glucose intolerance 30.3 UCP2 SST SHBG LEP KCNJ11 INSR
43 hyperuricemia 30.3 LEP INS APOB
44 turner syndrome 30.3 SHBG LEP INS IGFBP3 IGFBP1 IGF1
45 diabetic neuropathy 30.3 UCP2 LEP INS
46 leptin deficiency or dysfunction 30.2 LEP INS IGF1 GHRL
47 amenorrhea 30.2 SHBG LEP INS IGF1 GHRL
48 hyperglycemia 30.2 SST SERPINE1 LEP KCNJ11 INSR INS
49 arteries, anomalies of 30.2 SERPINE1 LEP INS APOB
50 slipped capital femoral epiphysis 30.2 IGFBP3 IGF1

Graphical network of the top 20 diseases related to Hyperinsulinism:



Diseases related to Hyperinsulinism

Symptoms & Phenotypes for Hyperinsulinism

GenomeRNAi Phenotypes related to Hyperinsulinism according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.02 UCP2
2 Decreased viability GR00221-A-1 10.02 GCK INSR
3 Decreased viability GR00221-A-2 10.02 GCK INSR
4 Decreased viability GR00221-A-3 10.02 GCK INSR
5 Decreased viability GR00221-A-4 10.02 GCK INSR
6 Decreased viability GR00240-S-1 10.02 SST
7 Decreased viability GR00249-S 10.02 GHRL HADH IGFBP3 SERPINE1 UCP2
8 Decreased viability GR00381-A-1 10.02 KCNJ5
9 Decreased viability GR00381-A-3 10.02 KCNJ5
10 Decreased viability GR00386-A-1 10.02 APOB HNF4A SLC16A1
11 Decreased viability GR00402-S-2 10.02 GLUD1 IGFBP3 KCNJ5
12 Reduced mammosphere formation GR00396-S 9.23 ABCC8 GHRL HNF4A IGF1 IGFBP3 KCNJ11

MGI Mouse Phenotypes related to Hyperinsulinism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.17 GHRL HADH IGF1 IGFBP3 INS INSR
2 growth/size/body region MP:0005378 10.16 ABCC8 APOB GCK GLUD1 HADH HNF4A
3 cardiovascular system MP:0005385 10.14 APOB GCK HNF4A IGF1 IGFBP3 INS
4 endocrine/exocrine gland MP:0005379 10.13 ABCC8 GCK GHRL GLUD1 HADH HNF4A
5 cellular MP:0005384 10.11 APOB GCK HADH HNF4A IGF1 IGFBP1
6 homeostasis/metabolism MP:0005376 10.09 ABCC8 APOB GCK GHRL GLUD1 HADH
7 liver/biliary system MP:0005370 9.7 APOB GCK HNF4A IGFBP1 IGFBP3 INS
8 renal/urinary system MP:0005367 9.28 GCK HADH HNF4A IGF1 INS INSR

Drugs & Therapeutics for Hyperinsulinism

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

(show top 50) (show all 119)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
3
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
4
Metformin Approved Phase 4 657-24-9 14219 4091
5
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
6
Cobalamin Experimental Phase 4 13408-78-1 6857388
7 Angiopeptin Phase 4
8 Vitamins Phase 4
9 Vitamin B 12 Phase 4
10 Vitamin B Complex Phase 4
11 Vitamin B12 Phase 4
12 Amino-acid, glucose, and electrolyte solution Phase 4
13 Parenteral Nutrition Solutions Phase 4
14 Liver Extracts Phase 4
15
Diazoxide Approved Phase 3 364-98-7 3019
16
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
17
Furosemide Approved, Vet_approved Phase 3 54-31-9 3440
18
Glucagon Approved Phase 3 16941-32-5
19 Antihypertensive Agents Phase 3
20 Vasodilator Agents Phase 3
21 Neurotransmitter Agents Phase 3
22 Dopamine Agents Phase 3
23 Radiopharmaceuticals Phase 3
24 diuretics Phase 3
25 Sodium Potassium Chloride Symporter Inhibitors Phase 3
26 Dihydroxyphenylalanine Phase 3
27
Rosiglitazone Approved, Investigational Phase 2 122320-73-4 77999
28
Pancrelipase Approved, Investigational Phase 2 53608-75-6
29
Levodopa Approved Phase 2 59-92-7 6047
30
Vigabatrin Approved Phase 2 60643-86-9, 68506-86-5 5665
31
tannic acid Approved Phase 1, Phase 2 1401-55-4
32
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
33 Mitogens Phase 2
34 pancreatin Phase 2
35 Gastrointestinal Agents Phase 2
36 Antineoplastic Agents, Hormonal Phase 2
37 Glucagon-Like Peptide 1 Phase 2
38 Anticonvulsants Phase 2
39
Exenatide Approved, Investigational Phase 1 141758-74-9 15991534
40
Insulin glargine Approved Phase 1 160337-95-1
41
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
42
Somatostatin Approved, Investigational Phase 1 51110-01-1, 38916-34-6 53481605
43
Octreotide Approved, Investigational Phase 1 83150-76-9 383414 6400441
44
Lactitol Approved, Investigational Phase 1 585-86-4 157355
45 cyclo(Trp-Asp-Pro-Val-Leu) Phase 1
46 Anti-Obesity Agents Phase 1
47 Cardiac Glycosides Phase 1
48 Glycoside Hydrolase Inhibitors Phase 1
49 Insulin, Globin Zinc Phase 1
50 insulin Phase 1

Interventional clinical trials:

(show top 50) (show all 100)
# Name Status NCT ID Phase Drugs
1 Pasireotide in the Treatment of Hypoglycemia Following Gastric Bypass Surgery Unknown status NCT03514576 Phase 4 Pasireotide 0.3 MG/ML
2 Treatment With Lanreotide Autogel (Somatostatin Analogue) in Patients With Congenital Hyperinsulinism of Infancy Already Treated With Somatostatin Analog by Pump Unknown status NCT01070758 Phase 4 Lanreotide autogel
3 Metabolic Effect of Metformin in Obese Insulin Resistant Adolescents With Normal Glucose Tolerance Completed NCT00667498 Phase 4 Metformin;Placebo
4 Enhancing the Anabolic Effect of Perioperative Nutrition With Insulin While Maintaining Normoglycemia Active, not recruiting NCT02032953 Phase 4 Insulin
5 Hyperinsulinemia and Insulin Resistance in Nonalcoholic Fatty Liver Disease. Metformin for the Treatment of Nonalcoholic Fatty Liver Disease: A Randomized, Double-Blinded, Placebo-Controlled Trial Terminated NCT00736385 Phase 4 Glucophage (Metformin);Placebo
6 A Two-Period, Open-label Trial Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Completed NCT03777176 Phase 3 dasiglucagon
7 Clinical Assessment of the Treatment With Diazoxide in Children Suffering From Obesity and Hyperinsulinemia Secondary to Surgery of Hypothalamic-pituitary Lesions Completed NCT00306683 Phase 3 DIAZOXIDE
8 A Randomized Trial in 2 Parts: Double-Blind, Placebo-Controlled, Crossover Part 1 and Open-label Part 2, Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Recruiting NCT04172441 Phase 2, Phase 3 dasiglucagon;Placebo
9 18F-DOPA II - PET Imaging Optimization Recruiting NCT04706910 Phase 3 18F-DOPA;Furosemide Injection
10 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Active, not recruiting NCT03042416 Phase 3 18F-DOPA
11 An Endometrial Cancer Chemoprevention Study of Metformin Versus No Treatment in Women With a Body Mass Index (BMI) >/= 30 kg.m2 and Hyperinsulinemia Active, not recruiting NCT01697566 Phase 3 Metformin
12 An Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Enrolling by invitation NCT03941236 Phase 3 dasiglucagon
13 EMPOWIR: Enhance the Metabolic Profile of Women With Insulin Resistance: Carbohydrate Modified Diet Alone and in Combination With Metformin or Metformin Plus Avandia in Non-diabetic Women With Midlife Weight Gain and Documented Insulin Elevations (Syndrome W) Completed NCT00618072 Phase 2 metformin and rosiglitazone
14 An Open Label Pilot Study of the Effects of the Glucagon-like Peptide-1 Receptor Antagonist, Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
15 A Phase II Safety and Efficacy Study of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
16 Phase II Long Term, Randomized Study of Recombinant Human Insulin-like Growth Factor I in Children With Hyperinsulinism Completed NCT00004700 Phase 2 insulin-like growth factor I
17 Diazoxide-mediated Insulin Suppression in Hyperinsulinemic Obese Men, Part III Completed NCT00631033 Phase 2 Placebo;Diazoxide;Metformin + Diazoxide
18 Effects of Metformin on Energy Intake, Energy Expenditure, and Body Weight in Overweight Children With Insulin Resistance Completed NCT00005669 Phase 2 Metformin HCL;Placebo
19 A Single-Dose Open-Label Study of XOMA 358 in Subjects With Congenital Hyperinsulinism (HI) Completed NCT02604485 Phase 2 Cohort 1;Cohort 2;Cohort 3;Cohort 4
20 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
21 Role of GLP-1 in Congenital Hyperinsulinism:Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
22 A Phase 2 Proof-of-Concept Study of CSI-Glucagon™ (Continuous Subcutaneous Glucagon Infusion) to Prevent Hypoglycemia With Lower Intravenous Glucose Infusion Rates in Children up to One Year of Age With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
23 Replace Sandostatine® in Three Daily Subcutaneous Injections by a Single Intramuscular Injection of Sandostatine® LP Per Month in Patients With a Diffuse Form of Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
24 Duration of Action and Peak Effect of High Dose of U-500 Regular Insulin In Severly Insulin Resistant Subjects With Type 2 Diabetes Mellitus Completed NCT02148250 Phase 2 U-500 insulin, 100 syringe units;U-500 insulin, 200 syringe units
25 Diazoxide-Mediated Insulin Suppression in Hyperinsulinemic Obese Men: a Dose Response Study, Part II Completed NCT00151684 Phase 2 Diazoxide
26 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
27 A Phase 2, Interventional, Randomized, Double-Blind, Placebo-Controlled Pilot Study of Glucagon RTU in Subjects Who Experience Hyperinsulinemic Hypoglycemia After Bariatric Surgery Completed NCT03770637 Phase 2 Glucagon RTU
28 18F-Fluoro-L- DOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism Recruiting NCT04205604 Phase 2 18F-Fluoro Dopa Imaging
29 An Open-Label Multiple-Dose Study of RZ358 in Patients With Congenital Hyperinsulinism Recruiting NCT04538989 Phase 2 RZ358 Sequential Group Cohort 1;RZ358 Sequential Group Cohort 2;RZ358 Sequential Group Cohort 3;RZ358 Sequential Group Cohort 4
30 Inhibiting GABA Transaminase to Relieve Obesity Induced Hyperinsulinemia and Insulin Resistance Not yet recruiting NCT04062890 Phase 2 Vigabatrin Pill;Placebo oral tablet
31 A Phase 2, Multiple Ascending Dose, Open-label, Proof-of-concept Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of HM15136 Treatment for 8 Weeks in Subjects Aged ≥2 Years With Congenital Hyperinsulinism (CHI) Not yet recruiting NCT04732416 Phase 2 HM15136
32 A Phase 2, Open-Label, Cross-over Study to Assess the Safety and Efficacy of Avexitide in Acquired Hyperinsulinism Not yet recruiting NCT04652479 Phase 2 Avexitide
33 Role of Glucagon-Like Peptide-1 (GLP-1) in Congenital Hyperinsulinism: Effect of Exendin (9-39) on Glucose Requirements to Maintain Euglycemia Terminated NCT00835328 Phase 1, Phase 2 Exendin (9-39);Vehicle
34 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
35 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
36 Subcutaneous Injection of Exendin (9-39) in Subjects With Hyperinsulinemic Hypoglycemia Post-Bariatric Surgery Unknown status NCT02996812 Phase 1 Exendin (9-39)
37 Effect of Insulin on Endothelin-Dependent Vascular Tone in the Forearm Circulation Completed NCT00001624 Phase 1 Insulin
38 A Novel Cross-sectional Analysis of Insulin Sensitivity Among Adolescents and Young Adults With Type 1 Diabetes, MODY2, and Normal Controls: the Contribution of Hyperinsulinemia vs. Hyperglycemia to Insulin Resistance Completed NCT02971202 Phase 1 Hyperinsulinemic, euglycemic clamp;20% dextrose
39 Evaluation of the Effects of Insulin Peglispro (LY2605541) on Respiratory Quotient During Sleep and Response to Hyperinsulinemia Compared With That of Insulin Glargine in Patients With Type 1 Diabetes Mellitus Completed NCT01925989 Phase 1
40 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
41 The Use of Fluorodopa F 18 Positron Emission Tomography Combined With Computed Tomography in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
42 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
43 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
44 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Unknown status NCT03768518
45 Randomized Study of the Effect of Decreased Hyperinsulinemia on the Ovulatory Response to Clomiphene Citrate in Obese Women With Polycystic Ovary Syndrome Completed NCT00005654 clomiphene citrate;metformin
46 Randomized Study of Decreased Hyperinsulinemia on the Ovulatory Response to Clomiphene Citrate in Women With Polycystic Ovary Syndrome Completed NCT00005104 clomiphene citrate;metformin
47 Effects of a Comprehensive Weight Management Program on Obese Adolescents and Children Completed NCT00409422
48 Short Term Study of Recombinant Human Insulin-like Growth Factor I in Children With Hyperinsulinism Completed NCT00004825 recombinant human insulin-like growth factor I
49 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Completed NCT03797222
50 Dose Ranging Study of Recombinant Human Insulin-like Growth Factor I in Children With Hyperinsulinism Completed NCT00004699 insulin-like growth factor I

Search NIH Clinical Center for Hyperinsulinism

Cochrane evidence based reviews: hyperinsulinism

Genetic Tests for Hyperinsulinism

Genetic tests related to Hyperinsulinism:

# Genetic test Affiliating Genes
1 Hyperinsulinemia 29

Anatomical Context for Hyperinsulinism

MalaCards organs/tissues related to Hyperinsulinism:

40
Ovary, Skeletal Muscle, Pancreas, Endothelial, Breast, Kidney, Liver

Publications for Hyperinsulinism

Articles related to Hyperinsulinism:

(show top 50) (show all 14775)
# Title Authors PMID Year
1
Plasma apelin levels in subjects with nonalcoholic fatty liver disease. 54 61
20045153 2010
2
Adaptations in mitochondrial function parallel, but fail to rescue, the transition to severe hyperglycemia and hyperinsulinemia: a study in Zucker diabetic fatty rats. 61 54
19875988 2010
3
Changes in cytokine levels during acute hyperinsulinemia in offspring of type 2 diabetic subjects. 54 61
20031127 2010
4
Apelin and APJ regulation in adipose tissue and skeletal muscle of type 2 diabetic mice and humans. 61 54
20233941 2010
5
The effect of insulin signaling on female reproductive function independent of adiposity and hyperglycemia. 54 61
20176725 2010
6
A common polymorphism in the promoter of UCP2 is associated with obesity and hyperinsulenemia in northern Indians. 61 54
19908126 2010
7
Hypoadiponectinemia--cause or consequence of human "insulin resistance"? 61 54
20164291 2010
8
Changes in the expression of insulin signaling pathway molecules in endometria from polycystic ovary syndrome women with or without hyperinsulinemia. 54 61
20011249 2010
9
Impact of disease-causing SUR1 mutations on the KATP channel subunit interface probed with a rhodamine protection assay. 54 61
19933268 2010
10
On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome. 54 61
19895831 2010
11
Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks. 54 61
20215776 2010
12
NO-1886 suppresses diet-induced insulin resistance and cholesterol accumulation through STAT5-dependent upregulation of IGF1 and CYP7A1. 54 61
19815588 2010
13
The increase in plasma PAI-1 associated with insulin resistance may be mediated by the presence of hepatic steatosis. 54 61
19656511 2010
14
Impact of type 1 diabetes and insulin treatment on plasma levels and fractional synthesis rate of retinol-binding protein 4. 61 54
19850685 2009
15
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 54 61
19884385 2009
16
Acute hyperinsulinemia differentially regulates interstitial and circulating adiponectin oligomeric pattern in lean and insulin-resistant, obese individuals. 54 61
19820029 2009
17
Metabolic syndrome and risk of subsequent colorectal cancer. 61 54
19891012 2009
18
Metabolic syndrome racial differences in adolescents. 54 61
19925390 2009
19
Fasting hyperinsulinemia associates with increased sub-clinical inflammation in first-degree relatives normal glucose tolerant women independently of the metabolic syndrome. 61 54
19685554 2009
20
The change in sex hormone binding globulin and the influence by gestational diabetes mellitus in fetal period. 54 61
19557594 2009
21
Insulin receptor isoforms and insulin receptor/insulin-like growth factor receptor hybrids in physiology and disease. 61 54
19752219 2009
22
Central leptin gene therapy ameliorates diabetes type 1 and 2 through two independent hypothalamic relays; a benefit beyond weight and appetite regulation. 54 61
19647774 2009
23
Low-birth weight children develop lower sex hormone binding globulin and higher dehydroepiandrosterone sulfate levels and aggravate their visceral adiposity and hypoadiponectinemia between six and eight years of age. 61 54
19737922 2009
24
Molecular biology of K(ATP) channels and implications for health and disease. 61 54
19787700 2009
25
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. 54 61
19734900 2009
26
Molecular mechanisms involved in obesity-associated insulin resistance: therapeutical approach. 61 54
19673658 2009
27
Forkhead transcription factor FoxO1 inhibits insulin- and transforming growth factor-beta-stimulated plasminogen activator inhibitor-1 expression. 54 61
19563779 2009
28
Alterations in cochlear function during induced acute hyperinsulinemia in an animal model. 54 61
19893948 2009
29
[Obesity and cancer]. 61 54
19524333 2009
30
Effects of a PPAR-gamma agonist, on growth factor and insulin stimulated endothelial cells. 54 61
19520186 2009
31
The hypertriglyceridemic waist phenotype versus the National Cholesterol Education Program-Adult Treatment Panel III and International Diabetes Federation clinical criteria to identify high-risk men with an altered cardiometabolic risk profile. 54 61
19481769 2009
32
Circumventing glucocorticoid-mediated hyperinsulinemia via the activation of PPARalpha. 61 54
19625768 2009
33
A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity. 54 61
19214805 2009
34
American Diabetes Association--69th Scientific sessions. Hyperinsulinism, insulin resistance and the treatment of diabetes: Part 2. 61 54
19629874 2009
35
Novel inhibitors complexed with glutamate dehydrogenase: allosteric regulation by control of protein dynamics. 54 61
19531491 2009
36
Insulin resistance and carotid atherosclerosis in patients with type 2 diabetes. 61 54
19147142 2009
37
Acute hyperinsulinemia raises plasma interleukin-6 in both nondiabetic and type 2 diabetes mellitus subjects, and this effect is inversely associated with body mass index. 54 61
19375766 2009
38
Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene. 54 61
19318379 2009
39
Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. 61 54
19336674 2009
40
[Hyperinsulinism in infancy and childhood: when an insulin level is not always enough]. 61 54
19411227 2009
41
States of serum leptin and insulin in children with epilepsy: risk predictors of weight gain. 61 54
18586538 2009
42
Acylated ghrelin concentrations are markedly decreased during pregnancy in mothers with and without gestational diabetes: relationship with cholinesterase. 54 61
19240252 2009
43
(Pre)diabetes, brain aging, and cognition. 54 61
19135149 2009
44
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. 54 61
19475716 2009
45
The genetic basis of congenital hyperinsulinism. 61 54
19254908 2009
46
Insulin-like growth factor-binding protein-1: serum levels, promoter polymorphism, and associations with components of the metabolic syndrome in short subjects born small for gestational age. 61 54
19158202 2009
47
Down-regulation of hepatic HNF4alpha gene expression during hyperinsulinemia via SREBPs. 61 54
19179483 2009
48
[Adipokines and highly active antiretroviral therapy related lipodystrophy: clinical study of 52 cases]. 54 61
19671283 2009
49
Diagnostic difficulties in glucokinase hyperinsulinism. 54 61
19053014 2009
50
Insulin-like growth factor-1 and glomerular filtration rate in hypertensive patients. 54 61
19330922 2009

Variations for Hyperinsulinism

ClinVar genetic disease variations for Hyperinsulinism:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF4A NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic 156152 rs587777732 20:43034835-43034835 20:44406195-44406195
2 HNF4A NM_000457.5(HNF4A):c.991C>T (p.Arg331Cys) SNV Likely pathogenic 36364 rs193922479 20:43052756-43052756 20:44424116-44424116
3 KCNJ11 NM_000525.3(KCNJ11):c.185C>G (p.Thr62Arg) SNV Likely pathogenic 373928 rs1057518775 11:17409454-17409454 11:17387907-17387907

Expression for Hyperinsulinism

Search GEO for disease gene expression data for Hyperinsulinism.

Pathways for Hyperinsulinism

Pathways related to Hyperinsulinism according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 SERPINE1 INSR INS IGFBP3 IGF1 GCK
2
Show member pathways
12.79 KCNJ5 KCNJ11 INS GCK ABCC8
3
Show member pathways
12.58 SST KCNJ5 IGFBP3 IGF1 GHRL
4
Show member pathways
12.35 LEP INSR INS IGF1 HNF4A
5 12.29 UCP2 INSR INS IGFBP3 IGFBP1 HNF4A
6
Show member pathways
12.24 SERPINE1 INSR INS APOB
7
Show member pathways
12.15 LEP INS IGF1 GHRL
8 11.95 SERPINE1 LEP INS IGF1
9
Show member pathways
11.9 INSR INS HNF4A GCK
10 11.82 SERPINE1 INSR INS IGF1
11
Show member pathways
11.79 INS HNF4A GCK
12 11.78 SERPINE1 INS IGFBP3 IGF1
13 11.71 LEP INS IGFBP3 IGF1
14 11.52 KCNJ5 KCNJ11 ABCC8
15 11.47 LEP KCNJ11 ABCC8
16 11.45 INSR INS IGF1
17 11.43 LEP INSR INS
18
Show member pathways
11.42 KCNJ11 INSR INS HNF4A GCK ABCC8
19 11.37 SERPINE1 LEP IGFBP1 HNF4A GCK
20 11.28 INSR INS IGF1
21 11.19 SLC16A1 SERPINE1 IGFBP3 IGFBP1
22 10.9 IGFBP3 IGFBP1 IGF1
23 10.87 UCP2 KCNJ11 INS IGFBP1 HNF4A HADH
24 10.85 LEP INS GHRL

GO Terms for Hyperinsulinism

Cellular components related to Hyperinsulinism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.02 SST SERPINE1 LEP INS IGFBP3 IGFBP1
2 extracellular region GO:0005576 10.02 SST SHBG SERPINE1 LEP INS IGFBP3
3 endoplasmic reticulum lumen GO:0005788 9.35 INS IGFBP3 IGFBP1 GHRL APOB
4 insulin-like growth factor ternary complex GO:0042567 9.26 IGFBP3 IGF1
5 inward rectifying potassium channel GO:0008282 9.16 KCNJ11 ABCC8
6 insulin-like growth factor binding protein complex GO:0016942 8.62 IGFBP3 IGF1

Biological processes related to Hyperinsulinism according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.94 SST KCNJ11 HADH ABCC8
2 female pregnancy GO:0007565 9.81 UCP2 LEP ABCC8
3 cellular response to insulin stimulus GO:0032869 9.8 UCP2 LEP INSR GCK
4 cellular protein metabolic process GO:0044267 9.8 INS IGFBP3 IGFBP1 IGF1 APOB
5 insulin receptor signaling pathway GO:0008286 9.79 INSR INS IGFBP1
6 response to insulin GO:0032868 9.79 LEP HADH ABCC8
7 positive regulation of MAPK cascade GO:0043410 9.77 LEP INSR INS IGFBP3 IGF1
8 positive regulation of cold-induced thermogenesis GO:0120162 9.76 UCP2 LEP HADH GHRL
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 LEP INSR INS IGF1
10 positive regulation of insulin secretion GO:0032024 9.72 GLUD1 GHRL GCK
11 positive regulation of glucose import GO:0046326 9.71 INSR INS IGF1
12 activation of protein kinase B activity GO:0032148 9.7 INSR INS IGF1
13 positive regulation of mitotic nuclear division GO:0045840 9.69 INSR INS IGF1
14 positive regulation of glycolytic process GO:0045821 9.65 INSR INS IGF1
15 glucose metabolic process GO:0006006 9.65 LEP KCNJ11 INS GHRL GCK
16 inorganic cation transmembrane transport GO:0098662 9.64 KCNJ11 ABCC8
17 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.63 IGFBP3 IGF1
18 negative regulation of smooth muscle cell migration GO:0014912 9.62 SERPINE1 IGFBP3
19 negative regulation of insulin secretion GO:0046676 9.62 KCNJ11 HADH GHRL ABCC8
20 neuron projection maintenance GO:1990535 9.61 INSR INS
21 cellular response to leptin stimulus GO:0044320 9.6 LEP GCK
22 adult feeding behavior GO:0008343 9.59 LEP GHRL
23 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.58 IGFBP3 IGFBP1
24 positive regulation of respiratory burst GO:0060267 9.58 INSR INS
25 bone mineralization involved in bone maturation GO:0035630 9.57 LEP IGF1
26 positive regulation of developmental growth GO:0048639 9.56 LEP INSR
27 positive regulation of glycogen biosynthetic process GO:0045725 9.46 INSR INS IGF1 GCK
28 glucose homeostasis GO:0042593 9.43 SLC16A1 LEP INSR INS HNF4A GCK
29 regulation of insulin secretion GO:0050796 9.17 SLC16A1 LEP KCNJ11 HNF4A HADH GCK

Molecular functions related to Hyperinsulinism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 UCP2 SST SLC16A1 SHBG SERPINE1 LEP
2 NAD+ binding GO:0070403 9.43 HADH GLUD1
3 insulin-like growth factor receptor binding GO:0005159 9.43 INSR INS IGF1
4 cation-transporting ATPase activity GO:0019829 9.4 KCNJ11 ABCC8
5 insulin-like growth factor I binding GO:0031994 9.33 INSR IGFBP3 IGFBP1
6 ATP-activated inward rectifier potassium channel activity GO:0015272 9.32 KCNJ11 ABCC8
7 insulin-like growth factor II binding GO:0031995 9.13 INSR IGFBP3 IGFBP1
8 hormone activity GO:0005179 9.02 SST LEP INS IGF1 GHRL

Sources for Hyperinsulinism

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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