MCID: HYP060
MIFTS: 55

Hyperinsulinism

Categories: Endocrine diseases, Metabolic diseases

Aliases & Classifications for Hyperinsulinism

MalaCards integrated aliases for Hyperinsulinism:

Name: Hyperinsulinism 12 55 44 15 73
Hyperinsulinemia 12 29 55 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:2018
ICD10 33 E16.1
MeSH 44 D006946
SNOMED-CT 68 83469008
UMLS 73 C0020459

Summaries for Hyperinsulinism

MalaCards based summary : Hyperinsulinism, also known as hyperinsulinemia, is related to hyperinsulinemic hypoglycemia, familial, 6 and alstrom syndrome. 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 Somatostatin and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include ovary, endothelial and liver, and related phenotypes are Reduced mammosphere formation and growth/size/body region

Wikipedia : 76 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 310)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 6 33.6 GLUD1 HADH INS
2 alstrom syndrome 32.2 INS KCNJ11 LEP
3 abdominal obesity-metabolic syndrome 1 31.5 INS LEP SERPINE1
4 hypoglycemia 30.8 ABCC8 GCK GLUD1 HADH INS INSR
5 insulinoma 30.7 ABCC8 GCK INS SST
6 adenoma 30.5 GH1 IGF1 KCNJ5 SST
7 munchausen by proxy 30.3 ABCC8 GCK KCNJ11
8 fatty liver disease 30.3 INS INSR LEP
9 hyperandrogenism 30.2 IGF1 IGFBP1 INS INSR SHBG
10 fasting hypoglycemia 30.2 GLUD1 IGF1 INSR
11 polycystic ovary syndrome 30.1 IGF1 IGFBP1 INS INSR LEP SHBG
12 acute insulin response 30.0 ABCC8 INS KCNJ11 KCNJ5
13 ovarian disease 30.0 IGF1 IGFBP1 INS SHBG
14 maturity-onset diabetes of the young 30.0 ABCC8 GCK HNF4A INS KCNJ11
15 monogenic diabetes 29.9 ABCC8 GCK HNF4A INS KCNJ11
16 insulinomatosis and diabetes mellitus 29.9 ABCC8 INS SST
17 hypertension, essential 29.9 APOB INS INSR LEP SERPINE1
18 donohue syndrome 29.8 IGF1 INS INSR
19 nonalcoholic fatty liver disease 29.7 APOB INS LEP
20 3-hydroxyacyl-coa dehydrogenase deficiency 29.7 GCK GHRL GLUD1 HADH INS LEP
21 pancreatic agenesis 29.7 ABCC8 GCK INS KCNJ11
22 neonatal diabetes mellitus 29.7 ABCC8 GCK INS KCNJ11 KCNJ5
23 gestational diabetes 29.7 GCK HNF4A INS INSR KCNJ11 LEP
24 hypopituitarism 29.7 GH1 IGF1 IGFBP3 INS
25 hyperproinsulinemia 29.6 IGFBP1 INS SHBG
26 diffuse idiopathic skeletal hyperostosis 29.6 IGF1 IGFBP3
27 anovulation 29.6 IGF1 INS LEP SHBG
28 morbid obesity 29.5 GHRL INS LEP
29 hyperinsulinemic hypoglycemia 29.5 ABCC8 GCK GLUD1 HADH HNF4A INS
30 acanthosis nigricans 29.5 IGF1 INS INSR LEP SHBG
31 arteries, anomalies of 29.4 APOB INS LEP SERPINE1
32 gallbladder disease 29.4 APOB INS SST
33 turner syndrome 29.4 GH1 IGF1 IGFBP1 IGFBP3 SHBG
34 hyperglycemia 29.4 ABCC8 GCK IGF1 INS INSR KCNJ11
35 glucose intolerance 29.2 APOB GCK GHRL IGF1 IGFBP1 INS
36 growth hormone deficiency 29.2 GH1 GHRL IGF1 IGFBP3
37 anorexia nervosa 29.1 GH1 GHRL IGF1 IGFBP1 IGFBP3 LEP
38 chronic kidney failure 29.1 APOB IGF1 IGFBP1 IGFBP3 INS LEP
39 vascular disease 29.1 APOB IGFBP1 INS SERPINE1
40 fetal macrosomia 29.0 APOB IGF1 IGFBP3 INS INSR LEP
41 hypothyroidism 28.8 APOB GH1 IGF1 IGFBP3 LEP SHBG
42 acromegaly 28.6 GH1 GHRL IGF1 IGFBP1 IGFBP3 INS
43 insulin-like growth factor i 28.5 GH1 IGF1 IGFBP1 IGFBP3 INS INSR
44 diabetes mellitus 28.5 ABCC8 APOB GCK GHRL HNF4A IGF1
45 body mass index quantitative trait locus 11 27.7 APOB GCK GH1 GHRL IGF1 IGFBP1
46 diabetes mellitus, noninsulin-dependent 27.3 ABCC8 APOB GCK GH1 GHRL HNF4A
47 hyperinsulinemic hypoglycemia, familial, 4 12.2
48 hyperinsulinemic hypoglycemia, familial, 3 12.1
49 hyperinsulinemic hypoglycemia, familial, 1 12.1
50 hyperinsulinemic hypoglycemia, familial, 5 12.1

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 ABCC8 GHRL HNF4A IGF1 IGFBP3 KCNJ11

MGI Mouse Phenotypes related to Hyperinsulinism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 APOB GCK GLUD1 HADH HNF4A IGF1
2 homeostasis/metabolism MP:0005376 10.13 ABCC8 APOB GCK GHRL GLUD1 HADH
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 10.06 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 APOB IGF1 IGFBP3 INS INSR KCNJ11
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 824)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 51110-01-1, 38916-34-6 53481605
2
Octreotide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 83150-76-9 383414 6400441
3 lanreotide Approved Phase 4,Not Applicable 108736-35-2
4
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 657-24-9 14219 4091
5
Mycophenolic acid Approved Phase 4 24280-93-1 446541
6
Tacrolimus Approved, Investigational Phase 4,Not Applicable 104987-11-3 445643 439492
7
Abatacept Approved Phase 4 332348-12-6 10237
8
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
9
Parecoxib Approved Phase 4 198470-84-7
10
Tramadol Approved, Investigational Phase 4,Not Applicable 27203-92-5 33741
11
Ribavirin Approved Phase 4,Phase 2,Phase 3,Not Applicable 36791-04-5 37542
12
Curcumin Approved, Experimental, Investigational Phase 4,Phase 2,Not Applicable 458-37-7 969516
13
Cyproterone Acetate Approved, Investigational Phase 4,Not Applicable 427-51-0
14
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 57-63-6 5991
15 Mirabegron Approved Phase 4,Early Phase 1 223673-61-8
16
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 7440-66-6
17
acetic acid Approved Phase 4,Not Applicable 64-19-7 176
18
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 111025-46-8 4829
19
Glycerol Approved, Investigational Phase 4,Not Applicable 56-81-5 753
20
Eplerenone Approved Phase 4,Phase 3,Not Applicable 107724-20-9 443872 150310
21
Spironolactone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 52-01-7, 1952-01-7 5833
22
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
23
Hydrocortisone Approved, Vet_approved Phase 4,Early Phase 1,Not Applicable 50-23-7 5754
24
Hydrocortisone acetate Approved, Vet_approved Phase 4,Early Phase 1,Not Applicable 50-03-3
25
Resveratrol Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 501-36-0 445154
26
Linagliptin Approved Phase 4 668270-12-0 10096344
27
Insulin Aspart Approved Phase 4,Phase 1,Not Applicable 116094-23-6 16132418
28 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1 979-32-8
29
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-28-2 5757
30
Norethindrone Approved Phase 4,Phase 2 68-22-4 6230
31
Polyestradiol phosphate Approved Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1 28014-46-2
32
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 5949-44-0
33
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 58-18-4 6010
34
Testosterone enanthate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 315-37-7 9416
35
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 58-22-0 6013
36
Simvastatin Approved Phase 4,Phase 3,Phase 2,Not Applicable 79902-63-9 54454
37
Ezetimibe Approved Phase 4,Phase 3,Not Applicable 163222-33-1 150311
38
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
39
Valsartan Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 137862-53-4 60846
40 tannic acid Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
41
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 94-09-7, 1994-09-7 2337
42
Fluoxetine Approved, Vet_approved Phase 4,Not Applicable,Early Phase 1 54910-89-3 3386
43
Aripiprazole Approved, Investigational Phase 4,Phase 3,Not Applicable 129722-12-9 60795
44
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
45
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
46
Saxagliptin Approved Phase 4,Phase 3,Phase 2,Not Applicable 361442-04-8 11243969
47
Icodextrin Approved, Investigational Phase 4,Phase 2,Not Applicable 337376-15-5
48
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 132539-06-1 4585
49
Magnesium oxide Approved Phase 4,Phase 3,Phase 2,Not Applicable 1309-48-4 14792
50
Fenofibrate Approved Phase 4,Phase 3,Phase 2,Not Applicable 49562-28-9 3339

Interventional clinical trials:

(show top 50) (show all 2477)
# 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 Mirabegron and Brown Adipose Tissue Unknown status NCT03012113 Phase 4 Mirabegron;Placebo Oral Capsule
11 Sildenafil Activates Browning of White Adipose and Improves Insulin Sensitivity Unknown status NCT02524184 Phase 4 sildenafil;placebo
12 Effect of Medical Interventions in Insulin Resistance on Prevalence of Abnormal Glucose Tolerance Unknown status NCT02502344 Phase 4 Metformin
13 Role of Preoperative Carbohydrates Drinks, Dichloroacetate and Exercise on Postoperative Muscle Insulin Resistance Unknown status NCT02469337 Phase 4 Dichloroacetate
14 Mechanisms Underlying Postoperative Insulin Resistance and Inflammation Unknown status NCT01470534 Phase 4
15 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
16 ACTIV- Exercise Intervention in Healthy Young Men Unknown status NCT00401791 Phase 4
17 Acute Effects of an Oral Fat Load on Skeletal Muscle and Hepatic Insulin Sensitivity Unknown status NCT01736202 Phase 4
18 Pioglitazone, Body Composition,Insulin Sensitivity and Protein Metabolism in ESRD Unknown status NCT01253928 Phase 4 Pioglitazone
19 Fat, Inflammation and Insulin Resistance Unknown status NCT01054989 Phase 4
20 A Trial to Study the Effect of Long Term Vitamin D Supplementation on Insulin Sensitivity Unknown status NCT01052181 Phase 4 Cholecalciferol;placebo
21 Diurnal Variation of Plasminogen Activator Inhibitor-1 Unknown status NCT00515021 Phase 4 Eplerenone (Morning vs. evening drug regimen)
22 Cortisol and Nutritional Sympathetic Responsiveness Unknown status NCT01620684 Phase 4 metyrapone;placebo
23 Can Resveratrol Improve Insulin Sensitivity and Preserve Beta Cell Function Following Gestational Diabetes? Unknown status NCT01997762 Phase 4
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 Curcumin Therapy in Patients With Impaired Glucose Tolerance and Insulin Resistance Unknown status NCT01052025 Phase 4 Curcumin
26 Insulin Infusion Diabetes Ulcer Unknown status NCT00700154 Phase 4
27 Preventing Recurrent Gestational Diabetes With Metformin Unknown status NCT02394158 Phase 4 Metformin;placebo
28 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4 Femoston Conti;EVOREL® CONTI
29 Odense Androgen Study - The Effect of Testim and Training in Hypogonadal Men Unknown status NCT00700024 Phase 4 Testim;placebo
30 The ACT-OUT Trial: ACTivity OUTcomes Based on High Carbohydrate or High Fat Diet in Metabolic Syndrome Unknown status NCT01357382 Phase 4
31 Metformin in Postmenopausal Women With Metabolic Syndrome Unknown status NCT01342744 Phase 4 Metformin;Placebo
32 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
33 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
34 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
35 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4 Valsartan
36 Effect of Growth Hormone in Metabolic Syndrome Unknown status NCT00307411 Phase 4 Growth hormone
37 Effects of Simvastatin and Micronized Trans-resveratrol Treatment on Polycystic Ovary Syndrome (PCOS) Patients Unknown status NCT02766803 Phase 4 Simvastatin and micronized trans-resveratrol
38 Insulin Resistance and Mild Cognitive Impairment (IRMCI) Study Unknown status NCT02409238 Phase 4 Metformin
39 Role of Inflammation Factors and Insulin Resistance in Major Depressive Disorder Unknown status NCT01699490 Phase 4 Fluoxetine + Valsartan;Fluoxetine + Placebo
40 Impact of Obstructive Sleep Apnea Treatment in Patients With Metabolic Syndrome Unknown status NCT02295202 Phase 4
41 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
42 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4 Ranolazine
43 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness Unknown status NCT00573950 Phase 4 cilostazol;Placebo
44 Continuous Positive Airway Pressure in Sleep Apnea Syndrome: Effects on Metabolic Syndrome and Cardiac Damage Unknown status NCT00517777 Phase 4
45 Metabolic Effect of Metformin in Obese Insulin Resistant Adolescents With Normal Glucose Tolerance Completed NCT00667498 Phase 4 Metformin;Placebo
46 Effects of Hyperuricemia Reversal on Features of the Metabolic Syndrome Completed NCT01654276 Phase 4 Febuxostat
47 Adding L-Carnitine to Clomiphene Citrate for Induction of Ovulation in Women With Polycystic Ovary Syndrome Completed NCT03630341 Phase 4 Clomiphene Citrate 50mg;L-carnitine;Placebo Oral Tablet
48 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
49 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
50 Testosterone Therapy of Men With Type 2 Diabetes Mellitus (T2DM) Completed NCT01560546 Phase 4 Testosterone;Placebo

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:

41
Ovary, Endothelial, Liver, Heart, Pancreas, Prostate, Skeletal Muscle

Publications for Hyperinsulinism

Articles related to Hyperinsulinism:

(show top 50) (show all 1658)
# Title Authors Year
1
Association between vitamin D status and hyperinsulinism. ( 29883217 )
2018
2
Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. ( 29151084 )
2018
3
The Role of Insulin Resistance/Hyperinsulinism on the Rising Trend of Thyroid and Adrenal Nodular Disease in the Current Environment. ( 29495350 )
2018
4
CORRIGENDUM FOR "Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2". ( 29538671 )
2018
5
Association of maternal nutrition with transient neonatal hyperinsulinism. ( 29723237 )
2018
6
Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations. ( 29493090 )
2018
7
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes. ( 29044608 )
2018
8
A unique allosteric insulin receptor monoclonal antibody that prevents hypoglycemia in the SUR-1<sup>-/-</sup> mouse model of KATP hyperinsulinism. ( 29589989 )
2018
9
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. ( 29907798 )
2018
10
Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism. ( 29077992 )
2018
11
Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism. ( 29425029 )
2018
12
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2. ( 29329447 )
2018
13
Genetic characteristics of patients with congenital hyperinsulinism. ( 29750770 )
2018
14
Ketotic Hypoglycemia in Children with Previous Transient Congenital Hyperinsulinism. ( 29503277 )
2018
15
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. ( 29417725 )
2018
16
Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death. ( 29558846 )
2018
17
Hyperinsulinism in the Neonate. ( 29406007 )
2018
18
Continuous Flash Glucose Monitoring in children with Congenital Hyperinsulinism; first report on accuracy and patient experience. ( 29599801 )
2018
19
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. ( 29902804 )
2018
20
18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation. ( 29116340 )
2018
21
Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation. ( 29176012 )
2018
22
Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F <i> <i>ABCC8</i> </i> mutation. ( 29739729 )
2018
23
Hyperinsulinemia Promotes Esophageal Cancer Development in a Surgically-Induced Duodeno-Esophageal Reflux Murine Model. ( 29662006 )
2018
24
TNF, but not hyperinsulinemia or hyperglycemia, is a key driver of obesity-induced monocytosis revealing that inflammatory monocytes correlate with insulin in obese male mice. ( 30548217 )
2018
25
Physiological hyperinsulinemia caused by acute hyperglycemia minimizes renal sodium loss by direct action on kidneys. ( 29791205 )
2018
26
Skeletal muscle autophagy remains responsive to hyperinsulinemia and hyperglycemia at higher plasma insulin concentrations in insulin-resistant mice. ( 30047243 )
2018
27
Combined Hyperglycemia- and Hyperinsulinemia-Induced Insulin Resistance in Adipocytes Is Associated With Dual Signaling Defects Mediated by PKC-ζ. ( 29370351 )
2018
28
Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants. ( 30026763 )
2018
29
The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study. ( 30029695 )
2018
30
Congenital hyperinsulinism treated by surgical resection of the hyperplastic lesion which had been preoperatively diagnosed by 18F-DOPA PET examination in Japan: a nationwide survey. ( 30076450 )
2018
31
Continuous Intragastric Dextrose: A Therapeutic Option for Refractory Hypoglycemia in Congenital Hyperinsulinism. ( 30086540 )
2018
32
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". ( 30097611 )
2018
33
Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism. ( 30186238 )
2018
34
Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia. ( 30246418 )
2018
35
The effect of hypoglycaemia on neurocognitive outcome in children and adolescents with transient or persistent congenital hyperinsulinism. ( 30246438 )
2018
36
Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide. ( 30247666 )
2018
37
The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism. ( 30311139 )
2018
38
Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. ( 30343978 )
2018
39
Glutamate dehydrogenase: Structure of a hyperinsulinism mutant, corrections to the atomic model, and insights into a regulatory site. ( 30367518 )
2018
40
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions. ( 30386300 )
2018
41
Congenital intrahepatic portocaval shunts and hypoglycemia due to secondary hyperinsulinism: a case report and review of the literature. ( 30415638 )
2018
42
Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures. ( 30425915 )
2018
43
Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes. ( 30462810 )
2018
44
Hypoglycemia secondary to factitious hyperinsulinism in a foster care adolescent - a case report of munchausen syndrome in a community hospital emergency department setting. ( 30537938 )
2018
45
Use of diazoxide in hypoglycemia with hyperinsulinemia in hemodialysis. ( 29203064 )
2018
46
Evidence of muscle loss delay and improvement of hyperinsulinemia and insulin resistance in Duchenne muscular dystrophy supplemented with omega-3 fatty acids: A randomized study. ( 30420291 )
2018
47
Mice Fed a High-Cholesterol Diet Supplemented with Quercetin-3-Glucoside Show Attenuated Hyperlipidemia and Hyperinsulinemia Associated with Differential Regulation of PCSK9 and LDLR in their Liver and Pancreas. ( 29396908 )
2018
48
Diet-Induced Hyperinsulinemia as a Key Factor in the Etiology of Both Benign Prostatic Hyperplasia and Essential Hypertension? ( 30455570 )
2018
49
Downregulation of macrophage Irs2 by hyperinsulinemia impairs IL-4-indeuced M2a-subtype macrophage activation in obesity. ( 30451856 )
2018
50
Nigella sativa Oil and Chromium Picolinate Ameliorate Fructose-Induced Hyperinsulinemia by Enhancing Insulin Signaling and Suppressing Insulin-Degrading Enzyme in Male Rats. ( 28975521 )
2018

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.991C> T (p.Arg331Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922479 GRCh37 Chromosome 20, 43052756: 43052756
2 HNF4A NM_000457.4(HNF4A): c.991C> T (p.Arg331Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs193922479 GRCh38 Chromosome 20, 44424116: 44424116
3 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 GRCh38 Chromosome 20, 44406195: 44406195
4 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 GRCh37 Chromosome 20, 43034835: 43034835
5 KCNJ11 NM_000525.3(KCNJ11): c.185C> G (p.Thr62Arg) single nucleotide variant Likely pathogenic rs1057518775 GRCh38 Chromosome 11, 17387907: 17387907
6 KCNJ11 NM_000525.3(KCNJ11): c.185C> G (p.Thr62Arg) single nucleotide variant Likely pathogenic rs1057518775 GRCh37 Chromosome 11, 17409454: 17409454

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 GCK GH1 IGF1 IGFBP3 INS INSR
2
Show member pathways
12.66 ABCC8 GCK INS KCNJ11 KCNJ5
3
Show member pathways
12.35 GCK GH1 INS LEP
4
Show member pathways
12.31 HNF4A IGF1 INS INSR LEP
5 12.29 GLUD1 HNF4A IGFBP1 IGFBP3 INS INSR
6
Show member pathways
12.22 APOB INS INSR SERPINE1
7
Show member pathways
12.06 GH1 GHRL IGF1 INS LEP
8
Show member pathways
11.9 GCK HNF4A INS INSR
9
Show member pathways
11.85 ABCC8 KCNJ11 KCNJ5
10 11.8 IGF1 IGFBP3 INS SERPINE1
11
Show member pathways
11.78 GCK HNF4A INS
12 11.78 GH1 IGF1 INS LEP SERPINE1
13 11.76 IGF1 INS INSR SERPINE1
14 11.5 ABCC8 KCNJ11 KCNJ5
15 11.46 ABCC8 KCNJ11 LEP
16 11.43 INS INSR LEP
17
Show member pathways
11.42 ABCC8 GCK HNF4A INS INSR KCNJ11
18 11.41 IGF1 INS INSR
19 11.37 GCK HNF4A IGFBP1 LEP SERPINE1
20 11.28 IGF1 INS INSR
21 11.27 IGFBP1 IGFBP3 SERPINE1
22 10.93 IGF1 IGFBP1 IGFBP3
23 10.81 ABCC8 GCK HADH HNF4A IGFBP1 INS

GO Terms for Hyperinsulinism

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.65 APOB GHRL IGFBP1 IGFBP3 INS
2 extracellular space GO:0005615 9.65 APOB GH1 GHRL IGF1 IGFBP1 IGFBP3
3 insulin-like growth factor ternary complex GO:0042567 9.4 IGF1 IGFBP3
4 inward rectifying potassium channel GO:0008282 9.37 ABCC8 KCNJ11
5 extracellular region GO:0005576 9.36 APOB GH1 GHRL IGF1 IGFBP1 IGFBP3
6 endosome lumen GO:0031904 9.33 APOB GH1 INS
7 insulin-like growth factor binding protein complex GO:0016942 9.32 IGF1 IGFBP3

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.96 ABCC8 HADH KCNJ11 SST
2 regulation of signaling receptor activity GO:0010469 9.91 GH1 GHRL IGF1 INS LEP SERPINE1
3 cellular protein metabolic process GO:0044267 9.89 APOB IGF1 IGFBP1 IGFBP3 INS
4 activation of MAPK activity GO:0000187 9.84 GHRL IGF1 INSR
5 positive regulation of cold-induced thermogenesis GO:0120162 9.82 GHRL HADH LEP
6 response to estradiol GO:0032355 9.81 APOB GH1 KCNJ11 LEP
7 insulin receptor signaling pathway GO:0008286 9.8 IGFBP1 INS INSR
8 positive regulation of MAPK cascade GO:0043410 9.8 IGF1 IGFBP3 INS INSR LEP
9 response to insulin GO:0032868 9.78 ABCC8 HADH LEP
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 GH1 IGF1 LEP
11 response to nutrient levels GO:0031667 9.77 GH1 GHRL LEP
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 GH1 IGF1 INS LEP
13 positive regulation of insulin secretion GO:0032024 9.73 GCK GHRL GLUD1
14 activation of protein kinase B activity GO:0032148 9.72 IGF1 INS INSR
15 glucose homeostasis GO:0042593 9.72 GCK HNF4A INS INSR LEP
16 positive regulation of glucose import GO:0046326 9.71 IGF1 INS INSR
17 positive regulation of mitotic nuclear division GO:0045840 9.7 IGF1 INS INSR
18 cellular glucose homeostasis GO:0001678 9.66 ABCC8 GCK
19 positive regulation of insulin receptor signaling pathway GO:0046628 9.65 INS LEP
20 negative regulation of gluconeogenesis GO:0045721 9.65 GCK INS
21 negative regulation of wound healing GO:0061045 9.65 ABCC8 SERPINE1
22 positive regulation of glycolytic process GO:0045821 9.65 IGF1 INS INSR
23 negative regulation of smooth muscle cell migration GO:0014912 9.64 IGFBP3 SERPINE1
24 positive regulation of growth GO:0045927 9.63 GH1 GHRL
25 adult feeding behavior GO:0008343 9.62 GHRL LEP
26 cellular response to leptin stimulus GO:0044320 9.62 GCK LEP
27 neuron projection maintenance GO:1990535 9.61 INS INSR
28 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.61 GH1 IGF1 IGFBP3
29 positive regulation of respiratory burst GO:0060267 9.58 INS INSR
30 bone mineralization involved in bone maturation GO:0035630 9.58 IGF1 LEP
31 positive regulation of developmental growth GO:0048639 9.57 INSR LEP
32 negative regulation of insulin secretion GO:0046676 9.56 ABCC8 GHRL HADH KCNJ11
33 regulation of insulin secretion GO:0050796 9.55 ABCC8 GCK HNF4A KCNJ11 LEP
34 glucose metabolic process GO:0006006 9.35 GCK GHRL INS KCNJ11 LEP
35 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 9.1 GH1 GHRL IGF1 INS LEP SST

Sources for Hyperinsulinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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