MCID: HYP060
MIFTS: 55

Hyperinsulinism

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Hyperinsulinism

MalaCards integrated aliases for Hyperinsulinism:

Name: Hyperinsulinism 11 53 43 14 71 75
Hyperinsulinemia 11 28 53 5 14

Classifications:



External Ids:

Disease Ontology 11 DOID:2018
MeSH 43 D006946
SNOMED-CT 68 154694003
ICD10 31 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 Translation Insulin regulation of translation and Glucose / Energy Metabolism. The drugs Lanreotide and Mecobalamin have been mentioned in the context of this disorder. Affiliated tissues include ovary, skeletal muscle and liver, and related phenotypes are Reduced mammosphere formation and homeostasis/metabolism

Wikipedia: 75 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 752)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 2 33.6 SST KCNJ11 INS HNF4A ABCC8
2 hyperinsulinemic hypoglycemia, familial, 6 33.2 UCP2 KCNJ11 HADH GLUD1 GCK ABCC8
3 hyperinsulinemic hypoglycemia, familial, 3 33.2 GCK ABCC8
4 hyperinsulinemic hypoglycemia, familial, 7 33.1 UCP2 KCNJ11 HADH GLUD1 GCK ABCC8
5 hypoglycemia 32.1 SST LEP KCNJ5 KCNJ11 INSR INS
6 hyperinsulinemic hypoglycemia 31.9 UCP2 SST KCNJ5 KCNJ11 INSR INS
7 insulinoma 31.7 UCP2 SST KCNJ11 INS GCK ABCC8
8 beckwith-wiedemann syndrome 31.3 KCNJ11 INS IGF1 HADH ABCC8
9 polycystic ovary syndrome 31.2 SHBG SERPINE1 LEP INSR INS IGFBP3
10 monogenic diabetes 31.2 KCNJ11 INS GCK ABCC8
11 hyperandrogenism 31.2 SHBG INSR INS IGFBP3 IGFBP1 IGF1
12 neonatal diabetes 31.2 KCNJ5 KCNJ11 INS HNF4A GCK ABCC8
13 asphyxia neonatorum 31.1 KCNJ11 INS HADH ABCC8
14 diabetes mellitus, permanent neonatal, 1 31.1 KCNJ11 INS GCK ABCC8
15 islet cell tumor 31.1 SST INS IGFBP3 IGF1
16 type 1 diabetes mellitus 31.1 SST LEP INS IGFBP3 IGFBP1 IGF1
17 permanent neonatal diabetes mellitus 31.1 KCNJ5 KCNJ11 INS HNF4A GCK ABCC8
18 heart disease 31.1 UCP2 SST SERPINE1 KCNJ5 INS IGF1
19 type 2 diabetes mellitus 31.1 UCP2 SST SHBG SERPINE1 LEP KCNJ5
20 maturity-onset diabetes of the young 31.0 UCP2 SST LEP KCNJ11 INSR INS
21 prediabetes syndrome 31.0 UCP2 SHBG SERPINE1 LEP KCNJ11 INSR
22 fatty liver disease 31.0 UCP2 SERPINE1 LEP INSR INS IGF1
23 abdominal obesity-metabolic syndrome 1 31.0 UCP2 SERPINE1 LEP INS IGFBP1 GHRL
24 non-alcoholic steatohepatitis 31.0 LEP INS APOB
25 gestational diabetes 30.9 SHBG LEP KCNJ11 INSR INS IGFBP1
26 glucose intolerance 30.9 UCP2 SST SHBG LEP KCNJ11 INSR
27 hyperglycemia 30.9 SST SERPINE1 LEP KCNJ11 INSR INS
28 microvascular complications of diabetes 1 30.9 SST INS IGFBP3 IGF1
29 leptin deficiency or dysfunction 30.9 LEP INS IGF1 GHRL
30 hypertriglyceridemia 1 30.9 SERPINE1 INS APOB
31 acne 30.8 SHBG LEP INS IGF1
32 diabetes mellitus 30.8 UCP2 SST SHBG SERPINE1 LEP KCNJ5
33 multiple endocrine neoplasia, type i 30.8 SST INS GHRL
34 hypertrichosis 30.8 SHBG KCNJ11 INSR INS ABCC8
35 acanthosis nigricans 30.8 SHBG LEP INSR INS IGF1
36 hypogonadism 30.8 SHBG LEP INS IGF1
37 munchausen by proxy 30.8 KCNJ11 GCK ABCC8
38 factitious disorder 30.8 KCNJ11 INS GCK ABCC8
39 chronic kidney disease 30.8 LEP INS IGFBP3 IGFBP1 IGF1 GHRL
40 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 30.8 INSR INS IGFBP3 IGF1
41 donohue syndrome 30.7 LEP INSR INS IGF1 GCK
42 ovarian disease 30.7 SHBG LEP INSR INS IGFBP1 IGF1
43 narcolepsy 30.7 SST LEP IGFBP3 GHRL
44 arteriosclerosis 30.7 SHBG SERPINE1 INS GHRL APOB
45 endometrial cancer 30.7 SHBG SERPINE1 LEP INS IGFBP3 IGFBP1
46 hypopituitarism 30.7 SHBG LEP INS IGFBP3 IGF1
47 maturity-onset diabetes of the young, type 1 30.7 KCNJ11 INS HNF4A GCK ABCC8
48 lipid metabolism disorder 30.7 SHBG SERPINE1 LEP INSR INS IGF1
49 hypertension, essential 30.6 UCP2 SST SHBG SERPINE1 LEP KCNJ5
50 coronary heart disease 1 30.6 SERPINE1 INS APOB

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 ABCC8 ACTG2 APOB GCK GHRL GLUD1
2 no effect GR00402-S-2 10.19 ABCC8 ACTG2 APOB GCK GHRL HADH
3 Reduced mammosphere formation GR00396-S 9.61 ABCC8 ACTG2 GHRL HNF4A IGF1 IGFBP3

MGI Mouse Phenotypes related to Hyperinsulinism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.19 ABCC8 ACTG2 APOB GCK GHRL GLUD1
2 renal/urinary system MP:0005367 10.09 GCK HADH HNF4A IGF1 INS INSR
3 liver/biliary system MP:0005370 10.07 APOB GCK HNF4A IGFBP1 IGFBP3 INS
4 growth/size/body region MP:0005378 10.03 ABCC8 APOB GCK GLUD1 HADH HNF4A
5 adipose tissue MP:0005375 10.02 GHRL HADH IGF1 IGFBP3 INS INSR
6 muscle MP:0005369 10.01 APOB IGF1 IGFBP3 INS INSR KCNJ11
7 endocrine/exocrine gland MP:0005379 9.77 ABCC8 GCK GHRL GLUD1 HADH HNF4A
8 cardiovascular system MP:0005385 9.4 ABCC8 APOB GCK HNF4A IGF1 IGFBP3

Drugs & Therapeutics for Hyperinsulinism

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

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lanreotide Approved Phase 4 108736-35-2 71349 6918011
2
Mecobalamin Approved, Investigational Phase 4 13422-55-4
3
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 44475014
4
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
5
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 24892734 16212801 44176380
6
Cobalamin Experimental Phase 4 13408-78-1 6857388
7 Vitamins Phase 4
8 Vitamin B12 Phase 4
9 Vitamin B Complex Phase 4
10 Vitamin B 12 Phase 4
11 Hypoglycemic Agents Phase 4
12 Insulin, Globin Zinc Phase 4
13
Insulin Phase 4
14 Liver Extracts Phase 4
15
Diazoxide Approved Phase 3 364-98-7 3019
16
Furosemide Approved, Vet_approved Phase 3 54-31-9 3440
17
Zinc cation Approved, Experimental, Investigational Phase 2, Phase 3 7440-66-6, 23713-49-7 32051
18
Insulin aspart Approved Phase 2, Phase 3 116094-23-6 16132418
19
Glucagon Approved Phase 3 16941-32-5 16133228 16186314
20 Antihypertensive Agents Phase 3
21 Vasodilator Agents Phase 3
22 Radiopharmaceuticals Phase 3
23 Sodium Potassium Chloride Symporter Inhibitors Phase 3
24 diuretics Phase 3
25 Insulin, Short-Acting Phase 2, Phase 3
26 Insulin, Long-Acting Phase 2, Phase 3
27 Insulin degludec, insulin aspart drug combination Phase 2, Phase 3
28 Glucagon-Like Peptide 1 Phase 3
29
Rosiglitazone Approved, Investigational Phase 2 122320-73-4, 155141-29-0 77999
30
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
31
Levodopa Approved Phase 2 59-92-7, 63-84-3 6047
32
Pancrelipase Approved, Investigational Phase 2 53608-75-6 8519
33
Tocopherol Approved, Investigational Phase 2 1406-66-2
34
Vigabatrin Approved Phase 2 60643-86-9, 68506-86-5 5665
35
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
36
Tannic acid Approved Phase 1, Phase 2 1401-55-4 16129878 16129778
37
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2 59-02-9, 10191-41-0 2116 14985
38
Tocotrienol Investigational Phase 2 6829-55-6 9929901
39 Incretins Phase 2
40 Antineoplastic Agents, Hormonal Phase 2
41 Gastrointestinal Agents Phase 2
42 Mitogens Phase 2
43 Dihydroxyphenylalanine Phase 2
44 Dopamine Agents Phase 2
45 Pancreatin Phase 2
46 Neurotransmitter Agents Phase 2
47 Trace Elements Phase 2
48 Antioxidants Phase 2
49 Micronutrients Phase 2
50 Protective Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 103)
# Name Status NCT ID Phase Drugs
1 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
2 Metabolic Effect of Metformin in Obese Insulin Resistant Adolescents With Normal Glucose Tolerance Completed NCT00667498 Phase 4 Metformin;Placebo
3 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
4 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
5 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Completed NCT03042416 Phase 3 18F-DOPA
6 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 Completed NCT04172441 Phase 2, Phase 3 dasiglucagon;Placebo
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 18F-DOPA II - PET Imaging Optimization Recruiting NCT04706910 Phase 3 18F-DOPA;Furosemide Injection
9 Comparison of the Pharmacokinetics (PK) and Pharmacodynamics (PD) Biosimilarity of Proposed Biosimilar Rapid-Acting Insulin Aspart (I004) and NovoLog After Single-Dose Subcutaneous Administration to Healthy Volunteers: A Single-Center Randomized, Double-blinded, Two-Treatment, Two-period, Two-sequence Crossover, Hyperinsulinemia-Euglycemic Clamp Recruiting NCT05539872 Phase 2, Phase 3 I004;NovoLog
10 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
11 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
12 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
13 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
14 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
15 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)
16 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
17 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
18 An Open-Label Multiple-Dose Study of RZ358 in Patients With Congenital Hyperinsulinism Completed NCT04538989 Phase 2 RZ358 Sequential Group Cohort 1;RZ358 Sequential Group Cohort 2;RZ358 Sequential Group Cohort 3;RZ358 Sequential Group Cohort 4
19 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
20 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
21 Diazoxide-Mediated Insulin Suppression in Hyperinsulinemic Obese Men: a Dose Response Study, Part II Completed NCT00151684 Phase 2 Diazoxide
22 A Phase 2, Open-Label, Cross-over Study to Assess the Safety and Efficacy of Avexitide in Acquired Hyperinsulinemic Hypoglycemia Completed NCT04652479 Phase 2 Avexitide
23 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
24 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
25 Effects of Metformin on Energy Intake, Energy Expenditure, and Body Weight in Overweight Children With Insulin Resistance Completed NCT00005669 Phase 2 Metformin HCL;Placebo
26 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
27 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
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 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) Recruiting NCT04732416 Phase 2 HM15136
30 Use of18F-DOPA PET/MRI for the Detection and Localization of Focal Forms of Hyperinsulinism Recruiting NCT05088798 Phase 2 18F-Fluoro Dopa PET/MRI Imaging
31 Ready-to-use Dasiglucagon for the Treatment of Postprandial Hypoglycaemia in Roux-en-Y Gastric Bypass Operated Patients Active, not recruiting NCT04836273 Phase 2 Dasiglucagon;Placebo
32 Efficacy of Vitamin E in Hyperinsulinism/Hyperammonemia Syndrome Not yet recruiting NCT04984798 Phase 2 Vitamin E
33 Inhibiting GABA Transaminase to Relieve Obesity Induced Hyperinsulinemia and Insulin Resistance Not yet recruiting NCT04062890 Phase 2 Vigabatrin Pill;Placebo oral tablet
34 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
35 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
36 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
37 Subcutaneous Injection of Exendin (9-39) in Subjects With Hyperinsulinemic Hypoglycemia Post-Bariatric Surgery Unknown status NCT02996812 Phase 1 Exendin (9-39)
38 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Exenatide Placebo;Acarbose Placebo
39 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Completed NCT03103009 Phase 1 Pasireotide
40 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
41 Effect of Insulin on Endothelin-Dependent Vascular Tone in the Forearm Circulation Completed NCT00001624 Phase 1 Insulin
42 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
43 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
44 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Unknown status NCT03768518
45 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
46 Role of Nutrient Transit and Incretin Hormones in Hyperinsulinemic Hypoglycemia Unknown status NCT04615546
47 68Ga-NOTA-exendin-4 PET/CT for the Localization of Insulinoma and Diagnosis of Nesidioblastosis Unknown status NCT02560376 Early Phase 1 68Ga-NOTA-exendin-4
48 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Unknown status NCT03930368
49 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
50 Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Children With Congenital Hyperinsulinism - A Pilot Study Completed NCT03303196

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 28

Anatomical Context for Hyperinsulinism

Organs/tissues related to Hyperinsulinism:

MalaCards : Ovary, Skeletal Muscle, Liver, Pancreas, Endothelial, Pancreatic Islet, Adipocyte

Publications for Hyperinsulinism

Articles related to Hyperinsulinism:

(show top 50) (show all 15666)
# Title Authors PMID Year
1
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. 5
28422808 2017
2
Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients. 5
27007401 2016
3
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 5
26813947 2016
4
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 5
26647307 2016
5
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 5
25998219 2015
6
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 5
24676022 2014
7
Plasma apelin levels in subjects with nonalcoholic fatty liver disease. 53 62
20045153 2010
8
Adaptations in mitochondrial function parallel, but fail to rescue, the transition to severe hyperglycemia and hyperinsulinemia: a study in Zucker diabetic fatty rats. 53 62
19875988 2010
9
Changes in cytokine levels during acute hyperinsulinemia in offspring of type 2 diabetic subjects. 53 62
20031127 2010
10
Apelin and APJ regulation in adipose tissue and skeletal muscle of type 2 diabetic mice and humans. 53 62
20233941 2010
11
The effect of insulin signaling on female reproductive function independent of adiposity and hyperglycemia. 53 62
20176725 2010
12
Hypoadiponectinemia--cause or consequence of human "insulin resistance"? 53 62
20164291 2010
13
A common polymorphism in the promoter of UCP2 is associated with obesity and hyperinsulenemia in northern Indians. 53 62
19908126 2010
14
Changes in the expression of insulin signaling pathway molecules in endometria from polycystic ovary syndrome women with or without hyperinsulinemia. 53 62
20011249 2010
15
Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks. 53 62
20215776 2010
16
On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome. 53 62
19895831 2010
17
NO-1886 suppresses diet-induced insulin resistance and cholesterol accumulation through STAT5-dependent upregulation of IGF1 and CYP7A1. 53 62
19815588 2010
18
The increase in plasma PAI-1 associated with insulin resistance may be mediated by the presence of hepatic steatosis. 53 62
19656511 2010
19
Impact of disease-causing SUR1 mutations on the KATP channel subunit interface probed with a rhodamine protection assay. 53 62
19933268 2010
20
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. 53 62
19884385 2009
21
Impact of type 1 diabetes and insulin treatment on plasma levels and fractional synthesis rate of retinol-binding protein 4. 53 62
19850685 2009
22
Metabolic syndrome and risk of subsequent colorectal cancer. 53 62
19891012 2009
23
Metabolic syndrome racial differences in adolescents. 53 62
19925390 2009
24
Acute hyperinsulinemia differentially regulates interstitial and circulating adiponectin oligomeric pattern in lean and insulin-resistant, obese individuals. 53 62
19820029 2009
25
Molecular biology of K(ATP) channels and implications for health and disease. 53 62
19787700 2009
26
The change in sex hormone binding globulin and the influence by gestational diabetes mellitus in fetal period. 53 62
19557594 2009
27
Insulin receptor isoforms and insulin receptor/insulin-like growth factor receptor hybrids in physiology and disease. 53 62
19752219 2009
28
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. 53 62
19737922 2009
29
Molecular mechanisms involved in obesity-associated insulin resistance: therapeutical approach. 53 62
19673658 2009
30
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. 53 62
19734900 2009
31
Fasting hyperinsulinemia associates with increased sub-clinical inflammation in first-degree relatives normal glucose tolerant women independently of the metabolic syndrome. 53 62
19685554 2009
32
Central leptin gene therapy ameliorates diabetes type 1 and 2 through two independent hypothalamic relays; a benefit beyond weight and appetite regulation. 53 62
19647774 2009
33
Forkhead transcription factor FoxO1 inhibits insulin- and transforming growth factor-beta-stimulated plasminogen activator inhibitor-1 expression. 53 62
19563779 2009
34
[Obesity and cancer]. 53 62
19524333 2009
35
Alterations in cochlear function during induced acute hyperinsulinemia in an animal model. 53 62
19893948 2009
36
Novel inhibitors complexed with glutamate dehydrogenase: allosteric regulation by control of protein dynamics. 53 62
19531491 2009
37
Circumventing glucocorticoid-mediated hyperinsulinemia via the activation of PPARalpha. 53 62
19625768 2009
38
Effects of a PPAR-gamma agonist, on growth factor and insulin stimulated endothelial cells. 53 62
19520186 2009
39
A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity. 53 62
19214805 2009
40
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. 53 62
19481769 2009
41
American Diabetes Association--69th Scientific sessions. Hyperinsulinism, insulin resistance and the treatment of diabetes: Part 2. 53 62
19629874 2009
42
Insulin resistance and carotid atherosclerosis in patients with type 2 diabetes. 53 62
19147142 2009
43
Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. 53 62
19336674 2009
44
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. 53 62
19318379 2009
45
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. 53 62
19375766 2009
46
The genetic basis of congenital hyperinsulinism. 53 62
19254908 2009
47
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. 53 62
19475716 2009
48
[Hyperinsulinism in infancy and childhood: when an insulin level is not always enough]. 53 62
19411227 2009
49
States of serum leptin and insulin in children with epilepsy: risk predictors of weight gain. 53 62
18586538 2009
50
(Pre)diabetes, brain aging, and cognition. 53 62
19135149 2009

Variations for Hyperinsulinism

ClinVar genetic disease variations for Hyperinsulinism:

5 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ11 NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) SNV Uncertain Risk Allele
211230 rs780957825 GRCh37: 11:17408758-17408758
GRCh38: 11:17387211-17387211
2 HNF4A NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic
156152 rs587777732 GRCh37: 20:43034835-43034835
GRCh38: 20:44406195-44406195
3 ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) SNV Pathogenic
132803 rs587777387 GRCh37: 2:74141962-74141962
GRCh38: 2:73914835-73914835
4 HNF4A NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) SNV Likely Pathogenic
36364 rs193922479 GRCh37: 20:43052756-43052756
GRCh38: 20:44424116-44424116
5 KCNJ11 NM_000525.4(KCNJ11):c.185C>G (p.Thr62Arg) SNV Likely Pathogenic
373928 rs1057518775 GRCh37: 11:17409454-17409454
GRCh38: 11:17387907-17387907
6 KCNJ11 NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) SNV Uncertain Significance
8666 rs80356624 GRCh37: 11:17409037-17409037
GRCh38: 11:17387490-17387490
7 KCNJ11 NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) SNV Uncertain Significance
556784 rs768909861 GRCh37: 11:17408977-17408977
GRCh38: 11:17387430-17387430
8 KCNJ11 NM_000525.4(KCNJ11):c.179T>A (p.Phe60Tyr) SNV Uncertain Significance
30135 rs387906783 GRCh37: 11:17409460-17409460
GRCh38: 11:17387913-17387913
9 KCNJ11 NM_000525.4(KCNJ11):c.794G>T (p.Ser265Ile) SNV Uncertain Significance
549538 rs1437510576 GRCh37: 11:17408845-17408845
GRCh38: 11:17387298-17387298
10 KCNJ11 NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg) SNV Uncertain Significance
8684 rs1404429785 GRCh37: 11:17409173-17409173
GRCh38: 11:17387626-17387626
11 ABCC8 NM_000352.6(ABCC8):c.4120-19C>T SNV Uncertain Significance
35612 rs1800853 GRCh37: 11:17417496-17417496
GRCh38: 11:17395949-17395949
12 KCNJ11 NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) SNV Uncertain Significance
435556 rs750414160 GRCh37: 11:17408771-17408771
GRCh38: 11:17387224-17387224
13 ABCC8 NM_000352.6(ABCC8):c.207T>C (p.Pro69=) SNV Uncertain Significance
157687 rs1048099 GRCh37: 11:17496516-17496516
GRCh38: 11:17474969-17474969
14 KCNJ11 NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) SNV Uncertain Significance
211227 rs116392938 GRCh37: 11:17408796-17408796
GRCh38: 11:17387249-17387249
15 KCNJ11 NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) SNV Uncertain Significance
158672 rs8175351 GRCh37: 11:17408496-17408496
GRCh38: 11:17386949-17386949

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 SERPINE1 INSR INS IGFBP3 IGF1
2 12.29 GLUD1 HNF4A IGFBP1 IGFBP3 INS INSR
3
Show member pathways
12.25 IGFBP3 IGFBP1 IGF1 APOB
4
Show member pathways
12.08 GHRL IGF1 INS LEP
5
Show member pathways
11.97 LEP INSR INS HNF4A
6 11.9 SERPINE1 LEP INS IGF1
7
Show member pathways
11.85 GCK HNF4A INS INSR
8 11.73 SERPINE1 INS IGFBP3 IGF1
9
Show member pathways
11.72 INS HNF4A GCK
10 11.65 LEP INS IGFBP3 IGF1
11 11.48 KCNJ5 KCNJ11 ABCC8
12 11.45 LEP KCNJ11 ABCC8
13 11.38 LEP INSR INS
14 11.37 SERPINE1 LEP IGFBP1 HNF4A GCK
15 11.36 LEP INSR INS
16 11.24 SERPINE1 IGFBP3 IGFBP1
17
Show member pathways
11.06 LEP INSR INS
18 10.88 KCNJ11 INSR INS HNF4A GCK ABCC8
19
Show member pathways
10.86 UCP2 KCNJ11 INS IGFBP1 HNF4A HADH
20 10.8 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 10.26 ACTG2 APOB GHRL IGF1 IGFBP1 IGFBP3
2 endoplasmic reticulum lumen GO:0005788 10.02 INS IGFBP3 IGFBP1 GHRL APOB
3 insulin-like growth factor ternary complex GO:0042567 9.46 IGFBP3 IGF1
4 inward rectifying potassium channel GO:0008282 9.26 KCNJ11 ABCC8
5 insulin-like growth factor binding protein complex GO:0016942 8.92 IGFBP3 IGF1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 10.16 LEP INSR INS IGF1
2 positive regulation of cold-induced thermogenesis GO:0120162 10.08 UCP2 LEP HADH GHRL
3 glucose homeostasis GO:0042593 10.07 GCK HNF4A INS INSR LEP
4 positive regulation of insulin secretion GO:0032024 10.06 GLUD1 GHRL GCK
5 cellular response to insulin stimulus GO:0032869 10.06 GCK INSR LEP UCP2
6 potassium ion import across plasma membrane GO:1990573 10.04 KCNJ5 KCNJ11 ABCC8
7 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 10.03 LEP INSR INS IGF1
8 positive regulation of MAPK cascade GO:0043410 10.03 GHRL IGF1 IGFBP3 INS INSR LEP
9 positive regulation of glucose import GO:0046326 10.02 IGF1 INS INSR
10 positive regulation of mitotic nuclear division GO:0045840 10 INSR INS IGF1
11 activation of protein kinase B activity GO:0032148 9.97 INSR INS IGF1
12 negative regulation of insulin secretion GO:0046676 9.92 KCNJ11 HADH GHRL ABCC8
13 cellular response to leptin stimulus GO:0044320 9.91 LEP GCK
14 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.9 IGFBP3 IGFBP1
15 positive regulation of respiratory burst GO:0060267 9.89 INSR INS
16 bone mineralization involved in bone maturation GO:0035630 9.88 LEP IGF1
17 positive regulation of glycolytic process GO:0045821 9.88 INSR INS IGF1
18 glucose metabolic process GO:0006006 9.85 LEP KCNJ11 INS GHRL GCK
19 positive regulation of developmental growth GO:0048639 9.84 LEP INSR
20 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.81 KCNJ11 GHRL ABCC8
21 positive regulation of glycogen biosynthetic process GO:0045725 9.56 INSR INS IGF1 GCK
22 regulation of insulin secretion GO:0050796 9.32 LEP KCNJ11 HNF4A HADH GCK

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

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor receptor binding GO:0005159 9.73 INSR INS IGF1
2 insulin-like growth factor I binding GO:0031994 9.63 INSR IGFBP3 IGFBP1
3 ATP-activated inward rectifier potassium channel activity GO:0015272 9.62 KCNJ11 ABCC8
4 hormone activity GO:0005179 9.61 SST LEP INS IGF1 GHRL
5 insulin-like growth factor II binding GO:0031995 9.1 INSR IGFBP3 IGFBP1

Sources for Hyperinsulinism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....