MCID: HYP060
MIFTS: 56

Hyperinsulinism

Categories: Endocrine diseases, Metabolic diseases

Aliases & Classifications for Hyperinsulinism

MalaCards integrated aliases for Hyperinsulinism:

Name: Hyperinsulinism 12 51 41 14 69
Hyperinsulinemia 12 28 51

Classifications:



External Ids:

Disease Ontology 12 DOID:2018
ICD10 32 E16.1
MeSH 41 D006946
NCIt 46 C113104
UMLS 69 C0020459

Summaries for Hyperinsulinism

MalaCards based summary : Hyperinsulinism, also known as hyperinsulinemia, is related to hyperinsulinemic hypoglycemia, familial, 4 and hyperinsulinemic hypoglycemia, familial, 5. 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 Octreotide have been mentioned in the context of this disorder. Affiliated tissues include ovary, liver and endothelial, and related phenotypes are growth/size/body region and homeostasis/metabolism

Related Diseases for Hyperinsulinism

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

(show top 50) (show all 195)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 4 33.7 ABCC8 HADH
2 hyperinsulinemic hypoglycemia, familial, 5 33.7 ABCC8 INSR
3 hyperinsulinemic hypoglycemia, familial, 3 33.2 ABCC8 GCK
4 hyperinsulinemic hypoglycemia, familial, 2 32.6 ABCC8 HNF4A INS KCNJ11 SST
5 munchausen by proxy 30.4 ABCC8 GCK KCNJ11
6 pancreatic islet cell tumors 30.2 INS SST
7 insulinoma 30.2 ABCC8 GCK INS SST
8 hypoglycemia 30.2 ABCC8 GCK GLUD1 HADH INS INSR
9 fasting hypoglycemia 30.2 GLUD1 IGF1 INSR
10 acute insulin response 29.9 ABCC8 INS KCNJ11 KCNJ5 UCP2
11 monogenic diabetes 29.8 ABCC8 GCK HNF4A INS KCNJ11
12 maturity-onset diabetes of the young 29.8 ABCC8 GCK HNF4A INS KCNJ11
13 hyperandrogenism 29.7 IGF1 IGFBP1 INS INSR SHBG
14 hypopituitarism 29.6 IGF1 IGFBP3 INS
15 ovarian disease 29.6 IGF1 IGFBP1 INS SHBG
16 neonatal diabetes mellitus 29.5 ABCC8 GCK INS KCNJ11 KCNJ5
17 acanthosis nigricans 29.4 INS INSR LEP SHBG
18 bulimia nervosa 2 29.4 GHRL IGF1 LEP
19 3-hydroxyacyl-coa dehydrogenase deficiency 29.4 GCK GHRL GLUD1 HADH INS
20 gestational diabetes 29.3 GCK INS INSR KCNJ11 LEP SHBG
21 anovulation 29.3 IGF1 INS LEP SHBG
22 coronary heart disease 1 29.0 APOB INS SERPINE1
23 arteries, anomalies of 28.9 APOB INS LEP SERPINE1
24 diabetes mellitus 28.8 ABCC8 GCK HNF4A IGF1 INS INSR
25 turner syndrome 28.8 IGF1 IGFBP1 IGFBP3 SHBG
26 hyperinsulinemic hypoglycemia 28.7 ABCC8 GCK GLUD1 HADH HNF4A INS
27 polycystic ovary syndrome 28.6 GHRL IGF1 IGFBP1 INS INSR LEP
28 hyperglycemia 28.6 ABCC8 GCK IGF1 INS INSR KCNJ11
29 fetal macrosomia 28.3 APOB IGF1 IGFBP3 INS INSR LEP
30 insulin-like growth factor i 27.6 IGF1 IGFBP1 IGFBP3 INS INSR LEP
31 glucose intolerance 27.5 GCK GHRL IGF1 IGFBP1 INS INSR
32 body mass index quantitative trait locus 11 26.2 APOB GCK GHRL IGF1 IGFBP1 IGFBP3
33 diabetes mellitus, noninsulin-dependent 24.0 ABCC8 APOB GCK GHRL HNF4A IGF1
34 hyperinsulinism due to glucokinase deficiency 12.1
35 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 12.0
36 hyperinsulinemic hypoglycemia, familial, 6 12.0
37 hyperinsulinemic hypoglycemia, familial, 1 11.9
38 hyperinsulinism due to glutamodehydrogenase deficiency 11.8
39 hyperinsulinism, diffuse 11.8
40 hyperinsulinism, focal 11.8
41 hyperinsulinism due to hnf4a deficiency 11.8
42 hyperinsulinism due to ucp2 deficiency 11.8
43 hyperinsulinism due to hnf1a deficiency 11.8
44 hyperinsulinemic hypoglycemia, familial, 7 11.1
45 gallbladder disease 1 10.9
46 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 10.9
47 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 10.9
48 homozygous 11p15-p14 deletion syndrome 10.8
49 insulin autoimmune syndrome 10.5 INS INSR
50 maturity-onset diabetes of the young, type 2 10.5 GCK INS

Graphical network of the top 20 diseases related to Hyperinsulinism:



Diseases related to Hyperinsulinism

Symptoms & Phenotypes for Hyperinsulinism

MGI Mouse Phenotypes related to Hyperinsulinism:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 APOB GCK GLUD1 HADH HNF4A IGF1
2 homeostasis/metabolism MP:0005376 10.16 UCP2 ABCC8 APOB GCK GHRL GLUD1
3 endocrine/exocrine gland MP:0005379 10.11 HADH IGF1 IGFBP3 INS INSR KCNJ11
4 adipose tissue MP:0005375 10.09 GHRL HADH IGF1 IGFBP3 INS INSR
5 cardiovascular system MP:0005385 10.06 APOB IGF1 IGFBP3 INS INSR KCNJ11
6 liver/biliary system MP:0005370 9.81 APOB GCK HNF4A IGFBP1 IGFBP3 INS
7 muscle MP:0005369 9.5 INSR KCNJ11 LEP APOB IGF1 IGFBP3
8 renal/urinary system MP:0005367 9.23 GCK HADH IGF1 IGFBP3 INS INSR

Drugs & Therapeutics for Hyperinsulinism

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

(show top 50) (show all 802)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 lanreotide Approved Phase 4 108736-35-2
2
Octreotide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 83150-76-9 6400441 383414
3
Somatostatin Approved, Investigational Phase 4,Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
4
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 4091 14219
5
Abatacept Approved Phase 4 332348-12-6 10237
6
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
7
Mycophenolic acid Approved Phase 4 24280-93-1 446541
8
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
9
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
10 Parecoxib Approved Phase 4 198470-84-7
11
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
12
Ribavirin Approved Phase 4,Phase 2,Phase 3 36791-04-5 37542
13
Curcumin Approved, Investigational Phase 4,Phase 2 458-37-7 969516
14
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
15
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
16
Nateglinide Approved, Investigational Phase 4 105816-04-4 60026
17
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 111025-46-8 4829
18
Glycerol Approved, Investigational Phase 4 56-81-5 753
19
Amlodipine Approved Phase 4,Phase 3,Phase 2,Phase 1 88150-42-9 2162
20
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
21
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3,Phase 1,Early Phase 1 58-93-5 3639
22
Valsartan Approved, Investigational Phase 4,Phase 3,Phase 1 137862-53-4 60846
23
Eplerenone Approved Phase 4,Phase 3 107724-20-9 443872 150310
24
Spironolactone Approved Phase 4,Phase 3,Phase 2 1952-01-7, 52-01-7 5833
25
Hydrocortisone Approved, Vet_approved Phase 4,Early Phase 1 50-23-7 657311 5754
26
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
27
Resveratrol Approved, Experimental, Investigational Phase 4,Phase 3,Phase 2 501-36-0 445154
28
Linagliptin Approved Phase 4 668270-12-0 10096344
29
Voglibose Approved, Investigational Phase 4 83480-29-9 444020
30
Insulin Aspart Approved Phase 4,Phase 1 116094-23-6 16132418
31
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
32
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 50-28-2 5757
33
Norethindrone Approved Phase 4,Phase 2 68-22-4 6230
34
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-18-4 6010
35
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-22-0 6013
36
Ezetimibe Approved Phase 4,Phase 3 163222-33-1 150311
37
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
38
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 1994-09-7, 94-09-7 2337
39
Fluoxetine Approved, Vet_approved Phase 4,Early Phase 1 54910-89-3 3386
40
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
41
Ranolazine Approved, Investigational Phase 4 95635-55-5, 142387-99-3 56959
42
Orlistat Approved, Investigational Phase 4,Phase 1,Phase 2 96829-58-2 3034010
43
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
44
Saxagliptin Approved Phase 4,Phase 3,Phase 2 361442-04-8 11243969
45
Icodextrin Approved, Investigational Phase 4,Phase 2 337376-15-5
46
Olanzapine Approved, Investigational Phase 4,Phase 2,Phase 1 132539-06-1 4585
47
Magnesium oxide Approved Phase 4,Phase 3,Phase 2 1309-48-4 14792
48
Fenofibrate Approved Phase 4,Phase 3,Phase 2 49562-28-9 3339
49
Clozapine Approved Phase 4 5786-21-0 2818
50
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681

Interventional clinical trials:

(show top 50) (show all 2260)

# Name Status NCT ID Phase Drugs
1 Lanreotide Autogel Treatment of Patients With Congenital Hyperinsulinism of Infancy Unknown status NCT01070758 Phase 4 Lanreotide autogel
2 Effectiveness of Metformin in Recurrent Miscarriage in a Woman With Hyperinsulinaemia Unknown status NCT01718340 Phase 4 Metformin
3 Comparison of NODAT in Kidney Transplant Patients Receiving Belatacept Versus Standard Immunosuppression Unknown status NCT01875224 Phase 4 Belatacept;Tacrolimus
4 Effect of COX-2 Selective Inhibitors on Postoperative Insulin Resistance After Gastrointestinal Laparoscopic Surgery Unknown status NCT01930318 Phase 4 parecoxib
5 Pegylated-Interferon and Ribavirin Plus Metformin in the Treatment of Chronic HCV Infection and Insulin Resistance Unknown status NCT00370617 Phase 4 metformin
6 Study of Efficacy of Metformin in the Treatment of Acanthosis Nigricans in Children With Obesity Unknown status NCT02438020 Phase 4 Metformin
7 Curcumin for Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4 curcumin
8 PCOS, Therapy and Markers of Cardiovascular Risk Unknown status NCT01798875 Phase 4 oral metformin;oral contraceptive
9 Effect of Different Hemodialysis Modality on Adiponectin,Vascular Function and Clinical Prognosis Unknown status NCT00155363 Phase 4
10 Cardiovascular Effects of Metformin on Obesity Unknown status NCT01910246 Phase 4 Metformin
11 Mechanisms Underlying Postoperative Insulin Resistance and Inflammation Unknown status NCT01470534 Phase 4
12 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
13 ACTIV- Exercise Intervention in Healthy Young Men Unknown status NCT00401791 Phase 4
14 Insulin Resistance and Vessel Function After Meals: Does Early Intervention Make a Difference? Unknown status NCT00259168 Phase 4 Nateglinide
15 Acute Effects of an Oral Fat Load on Skeletal Muscle and Hepatic Insulin Sensitivity Unknown status NCT01736202 Phase 4
16 Pioglitazone, Body Composition,Insulin Sensitivity and Protein Metabolism in ESRD Unknown status NCT01253928 Phase 4 Pioglitazone
17 Fat, Inflammation and Insulin Resistance Unknown status NCT01054989 Phase 4
18 A Trial to Study the Effect of Long Term Vitamin D Supplementation on Insulin Sensitivity Unknown status NCT01052181 Phase 4 Cholecalciferol;placebo
19 Regression of Fatty Heart by Valsartan Therapy Unknown status NCT00745953 Phase 4 Valsartan;Hydrochlorothiazide
20 Diurnal Variation of Plasminogen Activator Inhibitor-1 Unknown status NCT00515021 Phase 4 Eplerenone (Morning vs. evening drug regimen)
21 Cortisol and Nutritional Sympathetic Responsiveness Unknown status NCT01620684 Phase 4 metyrapone;placebo
22 Can Resveratrol Improve Insulin Sensitivity and Preserve Beta Cell Function Following Gestational Diabetes? Unknown status NCT01997762 Phase 4
23 Effect of Linagliptin on Insulin Sensitivity and Pancreatic Beta Cell Function in Patients With Type 2 Diabetes Mellitus Unknown status NCT02097342 Phase 4 Linagliptin;Placebo;Voglibose
24 Curcumin Therapy in Patients With Impaired Glucose Tolerance and Insulin Resistance Unknown status NCT01052025 Phase 4 Curcumin
25 Insulin Infusion Diabetes Ulcer Unknown status NCT00700154 Phase 4
26 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4 Femoston Conti;EVOREL® CONTI
27 Odense Androgen Study - The Effect of Testim and Training in Hypogonadal Men Unknown status NCT00700024 Phase 4 Testim;placebo
28 The ACT-OUT Trial: ACTivity OUTcomes Based on High Carbohydrate or High Fat Diet in Metabolic Syndrome Unknown status NCT01357382 Phase 4
29 Metformin in Postmenopausal Women With Metabolic Syndrome Unknown status NCT01342744 Phase 4 Metformin;Placebo
30 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
31 Trial of Supplementation With Aged Garlic Extract to Improve Endothelial Function in Patients With Metabolic Syndrome Unknown status NCT01168700 Phase 4 aged garlic extract;Placebo
32 Effects of Ezetimibe, Simvastatin, and Vytorin on Reducing L5 a Subfraction of LDL in Patients With Metabolic Syndrome. Unknown status NCT00988364 Phase 4 Simvastatin;Vytorin;Placebo;Ezetimibe
33 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4 Valsartan
34 Effect of Growth Hormone in Metabolic Syndrome Unknown status NCT00307411 Phase 4 Growth hormone
35 Study to Examine Insulin Resistance During Growth Hormone Treatment for Short Stature Due to Low Birthweight Unknown status NCT00120497 Phase 4 somatropin (rDNA)
36 Insulin Resistance and Mild Cognitive Impairment (IRMCI) Study Unknown status NCT02409238 Phase 4 Metformin
37 Role of Inflammation Factors and Insulin Resistance in Major Depressive Disorder Unknown status NCT01699490 Phase 4 Fluoxetine + Valsartan;Fluoxetine + Placebo
38 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
39 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4 Ranolazine
40 Increasing Cure Rate of Hepatitis C Therapy in Obese Hepatitis C Patients Unknown status NCT00871845 Phase 4 Orlistat
41 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness Unknown status NCT00573950 Phase 4 cilostazol;Placebo
42 Continuous Positive Airway Pressure in Sleep Apnea Syndrome: Effects on Metabolic Syndrome and Cardiac Damage Unknown status NCT00517777 Phase 4
43 Metabolic Effect of Metformin in Obese Insulin Resistant Adolescents With Normal Glucose Tolerance Completed NCT00667498 Phase 4 Metformin;Placebo
44 Effects of Hyperuricemia Reversal on Features of the Metabolic Syndrome Completed NCT01654276 Phase 4 Febuxostat
45 Myo-inositol Versus D-chiro-inositol in the Treatment of Polycystic Ovary Syndrome and Insulin Resistance: Evaluation of Clinical, Metabolic, Endocrine and Ultrasound Parameters Completed NCT01514942 Phase 4 Folic acid, vit B12;Folic acid, vit B12
46 Clinical, Metabolic and Endocrine Effects of the Treatment With Drospirenone and Ethinyl Estradiol Alone or in Combination With Myo-inositol in Young Women With Polycystic Ovary Syndrome (PCOS) and Insulin Resistance Completed NCT01511822 Phase 4 Drospirenone Ethinyl estradiol;Drospirenone Ethinyl estradiol Myo-inositol;placebo
47 Testosterone Therapy of Men With Type 2 Diabetes Mellitus (T2DM) Completed NCT01560546 Phase 4 Testosterone;Placebo
48 Effect of Magnesium Administration in Subjects With Family History of Diabetes or Metabolic Syndrome Completed NCT01181830 Phase 4 magnesium pidolate;placebo
49 Cardiovascular Effects of Chronic Sildenafil in Men With Type 2 Diabetes Completed NCT00692237 Phase 4 Sildenafil;Placebo
50 Clomiphene Plus N-acetyl Cysteine for Induction of Ovulation in Newly Diagnosed Pcos. Completed NCT01896492 Phase 4 NAC

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

MalaCards organs/tissues related to Hyperinsulinism:

38
Ovary, Liver, Endothelial, Heart, Brain, Skeletal Muscle, Prostate

Publications for Hyperinsulinism

Articles related to Hyperinsulinism:

(show top 50) (show all 666)
# Title Authors Year
1
18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation. ( 29116340 )
2018
2
Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. ( 29151084 )
2018
3
Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism. ( 29077992 )
2018
4
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2. ( 29329447 )
2018
5
Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation. ( 29176012 )
2018
6
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes. ( 29044608 )
2018
7
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. ( 29417725 )
2018
8
Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism. ( 29425029 )
2018
9
Hyperinsulinism in the Neonate. ( 29406007 )
2018
10
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy. ( 29246172 )
2017
11
Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria. ( 28752386 )
2017
12
The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) - literature review. ( 29025242 )
2017
13
Cavitron Ultrasonic Surgical Aspirator-Assisted Pancreatic Resection in Hyperinsulinism. ( 28561134 )
2017
14
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation. ( 28328534 )
2017
15
Effect of TNF-I+ on Molecules Related to the Insulin Action in Endometrial Cells Exposed to Hyperandrogenic and Hyperinsulinic Conditions Characteristics of Polycystic Ovary Syndrome. ( 28946816 )
2017
16
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report. ( 28439221 )
2017
17
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism? ( 29127764 )
2017
18
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism. ( 28491926 )
2017
19
Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia. ( 28911206 )
2017
20
Congenital hyperinsulinism: diagnostic and management challenges in a developing country - case report. ( 29301189 )
2017
21
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. ( 28605545 )
2017
22
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
23
Hyperinsulinism-Causing Mutations Cause Multiple Molecular Defects in SUR1 NBD1. ( 28346775 )
2017
24
Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9. ( 28600547 )
2017
25
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism. ( 29241206 )
2017
26
Late presentation of necrotizing enterocolitis associated with rotavirus infection in a term infant with hyperinsulinism on octreotide therapy: A case report. ( 28984754 )
2017
27
Octreotide use and safety in infants with hyperinsulinism. ( 27910218 )
2017
28
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities. ( 28973288 )
2017
29
Clinical practice guidelines for congenital hyperinsulinism. ( 28804205 )
2017
30
Congenital Hyperinsulinism. ( 29131920 )
2017
31
Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry. ( 28701683 )
2017
32
Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism. ( 28576129 )
2017
33
Congenital Hyperinsulinism: Diagnosis and Treatment Update. ( 29280746 )
2017
34
Metabolomics allows the discrimination of the pathophysiological relevance of hyperinsulinism in obese prepubertal children. ( 28588306 )
2017
35
Polycystic kidney disease: PMM2 mutation causes PKD and hyperinsulinism. ( 28435156 )
2017
36
Images from<sup>18</sup>F-DOPA Scan in Congenital Hyperinsulinism: Not Always a Clue for Diagnosis. ( 29242734 )
2017
37
Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI). ( 28532504 )
2017
38
Pancreatic uptake and radiation dosimetry of 6-[18F]fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism. ( 29117181 )
2017
39
Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism. ( 28787272 )
2017
40
Retrospective Evaluation of Metformin and/or Metformin Plus a New Polysaccharide Complex in Treating Severe Hyperinsulinism and Insulin Resistance in Obese Children and Adolescents with Metabolic Syndrome. ( 28531113 )
2017
41
Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia. ( 28597971 )
2017
42
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization. ( 28247534 )
2017
43
Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study. ( 28740482 )
2017
44
Late Presentation of Fulminant Necrotizing Enterocolitis in a Child with Hyperinsulinism on Octreotide Therapy. ( 26867223 )
2016
45
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. ( 27908292 )
2016
46
Iatrogenic Necrolytic Migratory Erythema in an Infant with Congenital Hyperinsulinism. ( 26648573 )
2016
47
Diagnosis of ABCC8 congenital hyperinsulinism of infancy in a 20 year-old man evaluated for factitious hypoglycemia. ( 27754802 )
2016
48
Successful treatment of a newborn with congenital hyperinsulinism having a novel heterozygous mutation in the ABCC8 gene using subtotal pancreatectomy. ( 28757749 )
2016
49
A novel factor for primary arteriovenous fistula failure: hyperinsulinism. ( 27466042 )
2016
50
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. ( 27682711 )
2016

Variations for Hyperinsulinism

ClinVar genetic disease variations for Hyperinsulinism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 GRCh38 Chromosome 20, 44406195: 44406195

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 GCK IGF1 IGFBP3 INS INSR SERPINE1
2
Show member pathways
12.67 ABCC8 GCK INS KCNJ11 KCNJ5
3 12.28 GLUD1 HNF4A IGFBP1 IGFBP3 INS INSR
4
Show member pathways
12.27 HNF4A IGF1 INS INSR LEP
5
Show member pathways
12.23 APOB INS INSR SERPINE1
6
Show member pathways
12.14 GHRL IGF1 INS LEP
7 11.92 IGF1 INS LEP SERPINE1
8
Show member pathways
11.87 GCK HNF4A INS INSR
9
Show member pathways
11.78 GCK HNF4A INS
10 11.76 IGF1 IGFBP3 INS SERPINE1
11 11.71 IGF1 INS INSR SERPINE1
12 11.65 IGF1 IGFBP3 INS LEP
13 11.51 ABCC8 KCNJ11 KCNJ5
14 11.46 ABCC8 KCNJ11 LEP
15 11.43 IGF1 INS INSR
16 11.42 INS INSR LEP
17
Show member pathways
11.42 ABCC8 GCK HNF4A INS INSR KCNJ11
18 11.37 GCK HNF4A IGFBP1 LEP SERPINE1
19 11.27 IGF1 INS INSR
20 11.25 IGFBP1 IGFBP3 SERPINE1
21 10.87 ABCC8 GCK HADH HNF4A IGFBP1 INS
22 10.82 IGF1 IGFBP1 IGFBP3

GO Terms for Hyperinsulinism

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.96 APOB GHRL IGF1 IGFBP1 IGFBP3 INS
2 extracellular space GO:0005615 9.81 APOB GHRL IGF1 IGFBP1 IGFBP3 INS
3 voltage-gated potassium channel complex GO:0008076 9.58 ABCC8 KCNJ11 KCNJ5
4 endosome lumen GO:0031904 9.43 APOB INS
5 inward rectifying potassium channel GO:0008282 9.37 ABCC8 KCNJ11
6 endoplasmic reticulum lumen GO:0005788 9.35 APOB GHRL IGFBP1 IGFBP3 INS
7 insulin-like growth factor ternary complex GO:0042567 9.32 IGF1 IGFBP3
8 insulin-like growth factor binding protein complex GO:0016942 8.62 IGF1 IGFBP3

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.93 GHRL IGF1 INS LEP SERPINE1 SST
2 activation of MAPK activity GO:0000187 9.84 GHRL IGF1 INSR
3 response to estradiol GO:0032355 9.83 APOB KCNJ11 LEP
4 cellular protein metabolic process GO:0044267 9.83 APOB IGF1 IGFBP1 IGFBP3 INS
5 female pregnancy GO:0007565 9.82 ABCC8 LEP UCP2
6 cellular response to insulin stimulus GO:0032869 9.8 GCK INSR UCP2
7 insulin receptor signaling pathway GO:0008286 9.79 IGFBP1 INS INSR
8 response to insulin GO:0032868 9.77 ABCC8 HADH LEP
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.77 IGF1 INS LEP
10 glucose homeostasis GO:0042593 9.77 GCK HNF4A INS INSR LEP
11 positive regulation of MAPK cascade GO:0043410 9.72 IGF1 IGFBP3 INS INSR LEP
12 positive regulation of insulin secretion GO:0032024 9.71 GCK GHRL GLUD1
13 positive regulation of DNA replication GO:0045740 9.7 IGF1 INS INSR
14 activation of protein kinase B activity GO:0032148 9.69 IGF1 INS INSR
15 positive regulation of glucose import GO:0046326 9.67 IGF1 INS INSR
16 cellular glucose homeostasis GO:0001678 9.66 ABCC8 GCK
17 negative regulation of wound healing GO:0061045 9.65 ABCC8 SERPINE1
18 negative regulation of smooth muscle cell migration GO:0014912 9.65 IGFBP3 SERPINE1
19 positive regulation of mitotic nuclear division GO:0045840 9.65 IGF1 INS INSR
20 negative regulation of gluconeogenesis GO:0045721 9.64 GCK INS
21 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.63 IGF1 IGFBP3
22 positive regulation of insulin receptor signaling pathway GO:0046628 9.63 INS LEP
23 cellular response to leptin stimulus GO:0044320 9.61 GCK LEP
24 adult feeding behavior GO:0008343 9.61 GHRL LEP
25 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.58 IGFBP1 IGFBP3
26 positive regulation of respiratory burst GO:0060267 9.58 INS INSR
27 positive regulation of glycolytic process GO:0045821 9.58 IGF1 INS INSR
28 neuron projection maintenance GO:1990535 9.57 INS INSR
29 positive regulation of developmental growth GO:0048639 9.56 INSR LEP
30 negative regulation of insulin secretion GO:0046676 9.56 ABCC8 GHRL HADH KCNJ11
31 bone mineralization involved in bone maturation GO:0035630 9.55 IGF1 LEP
32 regulation of insulin secretion GO:0050796 9.55 ABCC8 GCK HNF4A KCNJ11 LEP
33 glucose metabolic process GO:0006006 9.35 GCK GHRL INS KCNJ11 LEP
34 positive regulation of glycogen biosynthetic process GO:0045725 8.92 GCK IGF1 INS INSR

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 9.43 IGF1 INS INSR
2 NAD+ binding GO:0070403 9.37 GLUD1 HADH
3 insulin-like growth factor I binding GO:0031994 9.33 IGFBP1 IGFBP3 INSR
4 ATP-activated inward rectifier potassium channel activity GO:0015272 9.32 ABCC8 KCNJ11
5 insulin-like growth factor II binding GO:0031995 9.13 IGFBP1 IGFBP3 INSR
6 hormone activity GO:0005179 9.02 GHRL IGF1 INS LEP SST

Sources for Hyperinsulinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
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33 ICD10 via Orphanet
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36 KEGG
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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