MCID: HYP060
MIFTS: 57

Hyperinsulinism

Categories: Endocrine diseases, Metabolic diseases, Genetic diseases

Aliases & Classifications for Hyperinsulinism

Summaries for Hyperinsulinism

MalaCards based summary : Hyperinsulinism, also known as hyperinsulinemia, is related to hyperinsulinemic hypoglycemia, familial, 4 and acute insulin response. 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 Insulin 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

Wikipedia : 72 Hyperinsulinism refers to an above normal level of insulin in the blood of a person or animal. Normal... more...

Related Diseases for Hyperinsulinism

Diseases in the Hyperinsulinism family:

Abcc8-Related Hyperinsulinism Gck-Related Hyperinsulinism
Glud1-Related Hyperinsulinism Hadh-Related Hyperinsulinism
Hnf4a-Related Hyperinsulinism Insr-Related Hyperinsulinism
Kcnj11-Related Hyperinsulinism Slc16a1-Related Hyperinsulinism

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

(show top 50) (show all 196)
id Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 4 31.8 GCK GHRL GLUD1 HADH INS
2 acute insulin response 29.9 ABCC8 INS KCNJ11 KCNJ5 UCP2
3 hyperinsulinism-hyperammonemia syndrome 12.3
4 hyperinsulinism due to glucokinase deficiency 12.0
5 abcc8-related hyperinsulinism 11.8
6 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.7
7 hyperinsulinemic hypoglycemia, familial, 2 11.7
8 glud1-related hyperinsulinism 11.7
9 hadh-related hyperinsulinism 11.7
10 hnf4a-related hyperinsulinism 11.7
11 insr-related hyperinsulinism 11.7
12 hyperinsulinism due to glutamodehydrogenase deficiency 11.7
13 kcnj11-related hyperinsulinism 11.7
14 hyperinsulinism, diffuse 11.7
15 slc16a1-related hyperinsulinism 11.7
16 hyperinsulinism, focal 11.7
17 hyperinsulinism due to hnf4a deficiency 11.7
18 hyperinsulinism due to ucp2 deficiency 11.7
19 hyperinsulinism due to hnf1a deficiency 11.7
20 gck-related hyperinsulinism 11.7
21 hyperinsulinemic hypoglycemia, familial, 1 11.6
22 hyperinsulinemic hypoglycemia, familial, 7 10.9
23 hyperphosphatasia with mental retardation syndrome 6 10.9 ABCC8 HADH
24 hyperinsulinemic hypoglycemia, familial, 3 10.8
25 diabetes mellitus, permanent neonatal 10.8 ABCC8 GCK
26 palmoplantar keratoderma and woolly hair 10.8 ABCC8 INSR
27 intellectual deficit buenos-aires type 10.8 INS INSR
28 gallbladder disease 1 10.8
29 fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 10.8
30 atrial fibrillation, familial, 12 10.7 ABCC8 KCNJ11
31 writing disorder 10.7 ABCC8 GCK KCNJ11
32 11p15-p14 deletion syndrome 10.7
33 nephronophthisis 19 10.7 ABCC8 INS KCNJ11
34 image syndrome 10.6 GLUD1 INS KCNJ5
35 pandas 10.6 INS SST
36 familial papillary thyroid carcinoma 10.6 ABCC8 HNF4A UCP2
37 cervical keratinizing squamous cell carcinoma 10.6 INS SST
38 intestinal volvulus 10.6 INS SST
39 repetitive stress injuries 10.6 INS SST
40 prolactin producing pituitary tumor 10.6 IGF1 SST
41 alstrom syndrome 10.5 INS KCNJ11 LEP
42 lipodystrophy, familial partial, type 2 10.5 INS LEP
43 labyrinthine unilateral reactive loss 10.5 ABCC8 GCK INS KCNJ11
44 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.4 ABCC8 GCK INS KCNJ11
45 febrile infection-related epilepsy syndrome 10.4 GLUD1 IGF1 INSR
46 diaphanospondylodysostosis 10.4 ABCC8 GCK INS KCNJ11
47 myh-9 related disease 10.4 INS LEP
48 mononeuritis of upper limb and mononeuritis multiplex 10.4 IGF1 SST
49 diabetes mellitus, transient neonatal, 3 10.4 ABCC8 HNF4A KCNJ11 UCP2
50 intraocular lymphoma 10.3 ABCC8 GCK INS SST

Graphical network of the top 20 diseases related to Hyperinsulinism:



Diseases related to Hyperinsulinism

Symptoms & Phenotypes for Hyperinsulinism

MGI Mouse Phenotypes related to Hyperinsulinism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 IGF1 IGFBP3 INS INSR KCNJ11 LEP
2 homeostasis/metabolism MP:0005376 10.16 APOB GCK GHRL GLUD1 HADH HNF4A
3 endocrine/exocrine gland MP:0005379 10.11 ABCC8 GCK GHRL GLUD1 HADH IGF1
4 adipose tissue MP:0005375 10.09 GHRL HADH IGF1 IGFBP3 INS INSR
5 cardiovascular system MP:0005385 10.01 LEP SERPINE1 APOB IGF1 INS INSR
6 liver/biliary system MP:0005370 9.81 APOB GCK HNF4A IGFBP1 IGFBP3 INS
7 muscle MP:0005369 9.5 APOB IGF1 IGFBP3 INS INSR KCNJ11
8 renal/urinary system MP:0005367 9.17 GCK HADH IGF1 INS INSR LEP

Drugs & Therapeutics for Hyperinsulinism

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

(show top 50) (show all 802)
id 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 83150-76-9 383414 6400441
3
Somatostatin Approved 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 14219 4091
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
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
14
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
15
Liraglutide Approved Phase 4,Phase 3 204656-20-2 44147092
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
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3,Phase 1,Early Phase 1 58-93-5 3639
21
Valsartan Approved, Investigational Phase 4,Phase 3,Phase 1 137862-53-4 60846
22
Eplerenone Approved Phase 4,Phase 3 107724-20-9 150310 443872
23
Spironolactone Approved Phase 4,Phase 3,Phase 2 1952-01-7, 52-01-7 5833
24
Hydrocortisone Approved, Vet_approved Phase 4,Early Phase 1 50-23-7 5754 657311
25
Metyrapone Approved Phase 4 54-36-4 4174
26
Linagliptin Approved Phase 4 668270-12-0 10096344
27
Voglibose Approved, Investigational Phase 4 83480-29-9 444020
28
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 50-28-2 5757
29
Norethindrone Approved Phase 4,Phase 2 68-22-4 6230
30
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-18-4 6010
31
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-22-0 6013
32
Ezetimibe Approved Phase 4,Phase 3 163222-33-1 150311
33
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
34
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
35
Fluoxetine Approved, Vet_approved Phase 4,Early Phase 1 54910-89-3 3386
36
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
37
Orlistat Approved, Investigational Phase 4,Phase 1,Phase 2 96829-58-2 3034010
38
Cilostazol Approved Phase 4 73963-72-1 2754
39
Saxagliptin Approved Phase 4,Phase 3,Phase 2 361442-04-8 11243969
40
Icodextrin Approved, Investigational Phase 4,Phase 2 337376-15-5
41
Olanzapine Approved, Investigational Phase 4,Phase 2,Phase 1 132539-06-1 4585
42
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
43
Fenofibrate Approved Phase 4,Phase 3,Phase 2 49562-28-9 3339
44
Rosiglitazone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 122320-73-4 77999
45
Magnesium oxide Approved Phase 4,Phase 3,Phase 2 1309-48-4 14792
46
Clozapine Approved Phase 4 5786-21-0 2818
47
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
48
Telmisartan Approved, Investigational Phase 4,Phase 3,Phase 2 144701-48-4 65999
49
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
50
Nitric Oxide Approved Phase 4,Phase 2 10102-43-9 145068

Interventional clinical trials:

(show top 50) (show all 2198)

id 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 52 Week Trial of Liraglutide in Type 1 Diabetes Unknown status NCT01787916 Phase 4 Liraglutide
10 Effect of Different Hemodialysis Modality on Adiponectin,Vascular Function and Clinical Prognosis Unknown status NCT00155363 Phase 4
11 Cardiovascular Effects of Metformin on Obesity Unknown status NCT01910246 Phase 4 Metformin
12 Mechanisms Underlying Postoperative Insulin Resistance and Inflammation Unknown status NCT01470534 Phase 4
13 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
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 Curcumin Therapy in Patients With Impaired Glucose Tolerance and Insulin Resistance Unknown status NCT01052025 Phase 4 Curcumin
24 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
25 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4 Femoston Conti;EVOREL® CONTI
26 Odense Androgen Study - The Effect of Testim and Training in Hypogonadal Men Unknown status NCT00700024 Phase 4 Testim;placebo
27 The ACT-OUT Trial: ACTivity OUTcomes Based on High Carbohydrate or High Fat Diet in Metabolic Syndrome Unknown status NCT01357382 Phase 4
28 Metformin in Postmenopausal Women With Metabolic Syndrome Unknown status NCT01342744 Phase 4 Metformin;Placebo
29 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
30 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
31 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
32 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4 Valsartan
33 Effect of Growth Hormone in Metabolic Syndrome Unknown status NCT00307411 Phase 4 Growth hormone
34 Study to Examine Insulin Resistance During Growth Hormone Treatment for Short Stature Due to Low Birthweight Unknown status NCT00120497 Phase 4 somatropin (rDNA)
35 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
36 Role of Inflammation Factors and Insulin Resistance in Major Depressive Disorder Unknown status NCT01699490 Phase 4 Fluoxetine + Valsartan;Fluoxetine + Placebo
37 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4 Ranolazine
38 Increasing Cure Rate of Hepatitis C Therapy in Obese Hepatitis C Patients Unknown status NCT00871845 Phase 4 Orlistat
39 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness Unknown status NCT00573950 Phase 4 cilostazol;Placebo
40 Continuous Positive Airway Pressure in Sleep Apnea Syndrome: Effects on Metabolic Syndrome and Cardiac Damage Unknown status NCT00517777 Phase 4
41 Metabolic Effect of Metformin in Obese Insulin Resistant Adolescents With Normal Glucose Tolerance Completed NCT00667498 Phase 4 Metformin;Placebo
42 Effects of Hyperuricemia Reversal on Features of the Metabolic Syndrome Completed NCT01654276 Phase 4 Febuxostat
43 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
44 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
45 Testosterone Therapy of Men With Type 2 Diabetes Mellitus (T2DM) Completed NCT01560546 Phase 4 Testosterone;Placebo
46 Effect of Magnesium Administration in Subjects With Family History of Diabetes or Metabolic Syndrome Completed NCT01181830 Phase 4 magnesium pidolate;placebo
47 Cardiovascular Effects of Chronic Sildenafil in Men With Type 2 Diabetes Completed NCT00692237 Phase 4 Sildenafil;Placebo
48 Clomiphene Plus N-acetyl Cysteine for Induction of Ovulation in Newly Diagnosed Pcos. Completed NCT01896492 Phase 4 NAC
49 A 24 Week, Multicenter, Prospective, Open-labeled, Single-arm, Exploratory Phase 4 Clinical Trial to Evaluate the Safety and Efficacy of Lobeglitazone in Decreasing Intrahepatic Fat Contents in Type 2 Diabetes With NAFLD Completed NCT02285205 Phase 4 Oral administration of Lobeglitazone
50 Role of Myo-inositol and D-chiro Inositol on the Ovaric and Metabolic Functions Completed NCT01626443 Phase 4

Search NIH Clinical Center for Hyperinsulinism

Cochrane evidence based reviews: hyperinsulinism

Genetic Tests for Hyperinsulinism

Genetic tests related to Hyperinsulinism:

id Genetic test Affiliating Genes
1 Hyperinsulinemia 29

Anatomical Context for Hyperinsulinism

MalaCards organs/tissues related to Hyperinsulinism:

39
Ovary, Liver, Endothelial, Heart, Brain, Skeletal Muscle, Prostate

Publications for Hyperinsulinism

Articles related to Hyperinsulinism:

(show top 50) (show all 644)
id Title Authors Year
1
Polycystic kidney disease: PMM2 mutation causes PKD and hyperinsulinism. ( 28435156 )
2017
2
Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria. ( 28752386 )
2017
3
Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI). ( 28532504 )
2017
4
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report. ( 28439221 )
2017
5
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization. ( 28247534 )
2017
6
Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study. ( 28740482 )
2017
7
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
8
Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism. ( 28576129 )
2017
9
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
10
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism. ( 28491926 )
2017
11
Clinical practice guidelines for congenital hyperinsulinism. ( 28804205 )
2017
12
Octreotide use and safety in infants with hyperinsulinism. ( 27910218 )
2017
13
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
14
Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia. ( 28911206 )
2017
15
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
16
Cavitron Ultrasonic Surgical Aspirator-Assisted Pancreatic Resection in Hyperinsulinism. ( 28561134 )
2017
17
Hyperinsulinism-Causing Mutations Cause Multiple Molecular Defects in SUR1 NBD1. ( 28346775 )
2017
18
Metabolomics allows the discrimination of the pathophysiological relevance of hyperinsulinism in obese prepubertal children. ( 28588306 )
2017
19
Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9. ( 28600547 )
2017
20
Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism. ( 28787272 )
2017
21
Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia. ( 28597971 )
2017
22
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. ( 28605545 )
2017
23
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. ( 27682711 )
2016
24
Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. ( 27777708 )
2016
25
Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature. ( 27383869 )
2016
26
Hyperinsulinism in neonates of diabetic mothers: guardian of the brain? ( 27062424 )
2016
27
Coffin-Siris syndrome with cafAc-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. ( 27672547 )
2016
28
Hyperinsulinism Hyperammonemia Syndrome, a Rare Clinical Constellation. ( 26962538 )
2016
29
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. ( 27174046 )
2016
30
A Rare Reason of Hyperinsulinism: Munchausen Syndrome by Proxy. ( 27221098 )
2016
31
Clinical and genetic characterization of congenital hyperinsulinism in Spain. ( 27188453 )
2016
32
Successful treatment of a newborn with congenital hyperinsulinism having a novel heterozygous mutation in the ABCC8 gene using subtotal pancreatectomy. ( 28757749 )
2016
33
Iatrogenic Necrolytic Migratory Erythema in an Infant with Congenital Hyperinsulinism. ( 26648573 )
2016
34
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. ( 26908106 )
2016
35
Arterial Calcium Stimulation with Hepatic Venous Sampling in the Localization Diagnosis of Endogenous Hyperinsulinism. ( 27795707 )
2016
36
Fluoxetine induced Hypoglycaemia in a patient with persistent form of Congenital Hyperinsulinism (CHI) on Lanreotide Therapy. ( 27087264 )
2016
37
A NOVEL HOMOZYGOUS MUTATION IN THE KCNJ11 GENE p.F315I OF A NEONATE WITH CONGENITAL HYPERINSULINISM AND SUCCESFUL MANAGEMENT BY SIROLIMUS. ( 27181099 )
2016
38
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. ( 27908292 )
2016
39
Organic hyperinsulinism: radiological diagnostics and surgical treatment. ( 27296118 )
2016
40
Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 Children. ( 28508606 )
2016
41
A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA). ( 26656609 )
2016
42
A novel factor for primary arteriovenous fistula failure: hyperinsulinism. ( 27466042 )
2016
43
Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease. ( 27334808 )
2016
44
A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report. ( 26839063 )
2016
45
Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome. ( 28621098 )
2016
46
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. ( 27691052 )
2016
47
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2 (UCP2). ( 27967291 )
2016
48
Late Presentation of Fulminant Necrotizing Enterocolitis in a Child with Hyperinsulinism on Octreotide Therapy. ( 26867223 )
2016
49
Diagnosis of ABCC8 congenital hyperinsulinism of infancy in a 20 year-old man evaluated for factitious hypoglycemia. ( 27754802 )
2016
50
A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism. ( 28018462 )
2016

Variations for Hyperinsulinism

ClinVar genetic disease variations for Hyperinsulinism:

6
id 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 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 GCK IGF1 IGFBP3 INS INSR SERPINE1
2
Show member pathways
12.29 ABCC8 GCK INS KCNJ11
3
Show member pathways
12.27 HNF4A IGF1 INS INSR LEP
4 12.27 GLUD1 HNF4A IGFBP1 IGFBP3 INS INSR
5
Show member pathways
12.15 GHRL IGF1 INS LEP
6 11.92 IGF1 INS LEP SERPINE1
7
Show member pathways
11.87 GCK HNF4A INS INSR
8
Show member pathways
11.77 GCK HNF4A INS
9 11.76 IGF1 IGFBP3 INS SERPINE1
10 11.7 IGF1 INS INSR SERPINE1
11 11.65 IGF1 IGFBP3 INS LEP
12 11.5 ABCC8 KCNJ11 KCNJ5
13 11.46 ABCC8 KCNJ11 LEP
14 11.43 IGF1 INS INSR
15 11.42 INS INSR LEP
16
Show member pathways
11.42 ABCC8 GCK HNF4A INS INSR KCNJ11
17 11.37 GCK HNF4A IGFBP1 LEP SERPINE1
18 11.27 IGF1 INS INSR
19 11.25 IGFBP1 IGFBP3 SERPINE1
20 10.87 ABCC8 GCK HADH HNF4A IGFBP1 INS
21 10.82 IGF1 IGFBP1 IGFBP3

GO Terms for Hyperinsulinism

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

id 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 ATP-sensitive potassium channel complex 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 33)
id Name GO ID Score Top Affiliating Genes
1 activation of MAPK activity GO:0000187 9.83 GHRL IGF1 INSR
2 response to estradiol GO:0032355 9.83 APOB KCNJ11 LEP
3 cellular protein metabolic process GO:0044267 9.83 APOB IGF1 IGFBP1 IGFBP3 INS
4 female pregnancy GO:0007565 9.82 ABCC8 LEP UCP2
5 positive regulation of protein kinase B signaling GO:0051897 9.8 INS INSR LEP
6 cellular response to insulin stimulus GO:0032869 9.79 GCK INSR UCP2
7 insulin receptor signaling pathway GO:0008286 9.78 IGFBP1 INS INSR
8 glucose homeostasis GO:0042593 9.77 GCK HNF4A INS INSR LEP
9 response to insulin GO:0032868 9.76 ABCC8 HADH LEP
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.75 IGF1 INS LEP
11 positive regulation of insulin secretion GO:0032024 9.7 GCK GHRL GLUD1
12 positive regulation of DNA replication GO:0045740 9.69 IGF1 INS INSR
13 positive regulation of glucose import GO:0046326 9.67 IGF1 INS INSR
14 cellular glucose homeostasis GO:0001678 9.65 ABCC8 GCK
15 activation of protein kinase B activity GO:0032148 9.65 IGF1 INS INSR
16 positive regulation of MAPK cascade GO:0043410 9.65 IGF1 IGFBP3 INS INSR LEP
17 negative regulation of gluconeogenesis GO:0045721 9.64 GCK INS
18 negative regulation of smooth muscle cell migration GO:0014912 9.63 IGFBP3 SERPINE1
19 positive regulation of mitotic nuclear division GO:0045840 9.63 IGF1 INS INSR
20 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.62 IGF1 IGFBP3
21 positive regulation of insulin receptor signaling pathway GO:0046628 9.62 INS LEP
22 negative regulation of insulin secretion GO:0046676 9.62 ABCC8 GHRL HADH KCNJ11
23 cellular response to leptin stimulus GO:0044320 9.6 GCK LEP
24 adult feeding behavior GO:0008343 9.59 GHRL LEP
25 positive regulation of glycolytic process GO:0045821 9.58 IGF1 INS INSR
26 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.57 IGFBP1 IGFBP3
27 positive regulation of respiratory burst GO:0060267 9.56 INS INSR
28 positive regulation of developmental growth GO:0048639 9.55 INSR LEP
29 regulation of insulin secretion GO:0050796 9.55 ABCC8 GCK HNF4A KCNJ11 LEP
30 bone mineralization involved in bone maturation GO:0035630 9.54 IGF1 LEP
31 glucose metabolic process GO:0006006 9.35 GCK GHRL INS KCNJ11 LEP
32 negative regulation of wound healing GO:0061045 9.34 SERPINE1
33 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:

id 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
28 GO
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
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