MCID: HYP060
MIFTS: 56

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

Classifications:



External Ids:

Disease Ontology 12 DOID:2018
ICD10 33 E16.1
MeSH 44 D006946
NCIt 50 C113104
UMLS 73 C0020459

Summaries for Hyperinsulinism

MalaCards based summary : Hyperinsulinism, also known as hyperinsulinemia, is related to hyperinsulinemic hypoglycemia, familial, 2 and munchausen by proxy. 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 Prolactin Signaling Pathway. 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 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 191)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 2 32.3 ABCC8 HNF4A INS KCNJ11 SST
2 munchausen by proxy 30.9 ABCC8 GCK KCNJ11
3 fasting hypoglycemia 30.5 GLUD1 IGF1 INSR
4 acute insulin response 30.5 ABCC8 INS KCNJ11 KCNJ5
5 insulinoma 30.4 ABCC8 GCK INS SST
6 hypoglycemia 30.0 ABCC8 GCK GLUD1 HADH INS INSR
7 monogenic diabetes 30.0 ABCC8 GCK HNF4A INS KCNJ11
8 maturity-onset diabetes of the young 29.9 ABCC8 GCK HNF4A INS KCNJ11
9 ovarian disease 29.7 IGF1 IGFBP1 INS SHBG
10 hyperandrogenism 29.6 IGF1 IGFBP1 INS INSR SHBG
11 neonatal diabetes mellitus 29.6 ABCC8 GCK INS KCNJ11 KCNJ5
12 adenoma 29.2 GH1 IGF1 KCNJ5 SST
13 hypopituitarism 29.0 GH1 IGF1 IGFBP3 INS
14 polycystic ovary syndrome 29.0 IGF1 IGFBP1 INS INSR LEP SHBG
15 acanthosis nigricans 28.9 IGF1 INS INSR LEP SHBG
16 3-hydroxyacyl-coa dehydrogenase deficiency 28.8 GCK GHRL GLUD1 HADH INS LEP
17 gestational diabetes 28.8 GCK HNF4A INS INSR KCNJ11 LEP
18 anovulation 28.7 IGF1 IGFBP1 INS LEP SHBG
19 coronary heart disease 1 28.5 APOB INS SERPINE1
20 arteries, anomalies of 28.3 APOB INS LEP SERPINE1
21 hyperinsulinemic hypoglycemia 28.2 ABCC8 GCK GLUD1 HADH HNF4A INS
22 turner syndrome 28.2 GH1 IGF1 IGFBP1 IGFBP3 SHBG
23 hyperglycemia 28.1 ABCC8 GCK IGF1 INS INSR KCNJ11
24 anorexia nervosa 27.3 GH1 GHRL IGF1 IGFBP1 IGFBP3 LEP
25 fetal macrosomia 27.3 APOB IGF1 IGFBP3 INS INSR LEP
26 glucose intolerance 26.9 GCK GHRL IGF1 IGFBP1 INS INSR
27 insulin-like growth factor i 26.5 GH1 IGF1 IGFBP1 IGFBP3 INS INSR
28 diabetes mellitus 24.4 ABCC8 APOB GCK HNF4A IGF1 IGFBP1
29 diabetes mellitus, noninsulin-dependent 21.8 ABCC8 APOB GCK GH1 GHRL HNF4A
30 hyperinsulinism due to glucokinase deficiency 12.1
31 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 12.0
32 hyperinsulinemic hypoglycemia, familial, 6 12.0
33 hyperinsulinemic hypoglycemia, familial, 1 11.9
34 hyperinsulinemic hypoglycemia, familial, 5 11.9
35 hyperinsulinism due to hnf4a deficiency 11.9
36 hyperinsulinemic hypoglycemia, familial, 4 11.9
37 hyperinsulinism due to glutamodehydrogenase deficiency 11.8
38 hyperinsulinism, diffuse 11.8
39 hyperinsulinism, focal 11.8
40 hyperinsulinism due to ucp2 deficiency 11.8
41 hyperinsulinism due to hnf1a deficiency 11.8
42 hyperinsulinemic hypoglycemia, familial, 3 11.6
43 hyperinsulinemic hypoglycemia, familial, 7 11.1
44 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.9
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 insulin autoimmune syndrome 10.8 INS INSR
49 homozygous 11p15-p14 deletion syndrome 10.8
50 maturity-onset diabetes of the young, type 2 10.8 GCK INS

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 GLUD1 INS HADH HNF4A INSR IGF1
2 homeostasis/metabolism MP:0005376 10.13 HADH INSR HNF4A IGF1 ABCC8 APOB
3 endocrine/exocrine gland MP:0005379 10.11 HADH INSR IGF1 ABCC8 IGFBP3 GCK
4 adipose tissue MP:0005375 10.09 HADH INSR IGF1 IGFBP3 GHRL INS
5 cardiovascular system MP:0005385 10.06 INS IGF1 APOB IGFBP3 SERPINE1 INSR
6 liver/biliary system MP:0005370 9.81 HNF4A INSR APOB IGFBP1 IGFBP3 GCK
7 muscle MP:0005369 9.5 INS IGF1 APOB IGFBP3 INSR KCNJ11
8 renal/urinary system MP:0005367 9.23 INS HADH INSR IGF1 IGFBP3 GCK

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,Not Applicable 108736-35-2
2
Octreotide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 83150-76-9 383414 6400441
3
Somatostatin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 38916-34-6, 51110-01-1 53481605
4
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,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,Not Applicable 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,Not Applicable 27203-92-5 33741
12
Ribavirin Approved Phase 4,Phase 2,Phase 3,Not Applicable 36791-04-5 37542
13
Curcumin Approved, Investigational Phase 4,Phase 2 458-37-7 969516
14
Cyproterone Acetate Approved, Investigational Phase 4,Not Applicable 427-51-0
15
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 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,Not Applicable 111025-46-8 4829
18
Glycerol Approved, Investigational Phase 4,Not Applicable 56-81-5 753
19
Amlodipine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 88150-42-9 2162
20
Angiotensin II Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
21
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 58-93-5 3639
22
Valsartan Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 137862-53-4 60846
23
Eplerenone Approved Phase 4,Phase 3,Not Applicable 107724-20-9 150310 443872
24
Spironolactone Approved Phase 4,Phase 3,Phase 2,Not Applicable 1952-01-7, 52-01-7 5833
25
Hydrocortisone Approved, Vet_approved Phase 4,Not Applicable,Early Phase 1 50-23-7 5754
26
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
27
Resveratrol Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 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,Not Applicable 116094-23-6 16132418
31
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 7440-66-6 23994
32
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable 50-28-2 5757
33 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable 979-32-8
34
Norethindrone Approved Phase 4,Phase 2 68-22-4 6230
35
Polyestradiol phosphate Approved Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable 28014-46-2
36
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 58-18-4 6010
37
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 58-22-0 6013
38
Testosterone enanthate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 315-37-7 9416
39
Testosterone undecanoate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 5949-44-0
40
Ezetimibe Approved Phase 4,Phase 3,Not Applicable 163222-33-1 150311
41
Simvastatin Approved Phase 4,Phase 3,Not Applicable 79902-63-9 54454
42
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
43
Fluoxetine Approved, Vet_approved Phase 4,Not Applicable,Early Phase 1 54910-89-3 3386
44
Aripiprazole Approved, Investigational Phase 4,Phase 3,Not Applicable 129722-12-9 60795
45
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
46
Orlistat Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 96829-58-2 3034010
47
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
48
Saxagliptin Approved Phase 4,Phase 3,Phase 2,Not Applicable 361442-04-8 11243969
49
Icodextrin Approved, Investigational Phase 4,Phase 2,Not Applicable 337376-15-5
50
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 132539-06-1 4585

Interventional clinical trials:

(show top 50) (show all 2356)
# 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 Insulin Resistance and Mild Cognitive Impairment (IRMCI) Study Unknown status NCT02409238 Phase 4 Metformin
36 Role of Inflammation Factors and Insulin Resistance in Major Depressive Disorder Unknown status NCT01699490 Phase 4 Fluoxetine + Valsartan;Fluoxetine + Placebo
37 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
38 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4 Ranolazine
39 Increasing Cure Rate of Hepatitis C Therapy in Obese Hepatitis C Patients Unknown status NCT00871845 Phase 4 Orlistat
40 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness Unknown status NCT00573950 Phase 4 cilostazol;Placebo
41 Continuous Positive Airway Pressure in Sleep Apnea Syndrome: Effects on Metabolic Syndrome and Cardiac Damage Unknown status NCT00517777 Phase 4
42 Metabolic Effect of Metformin in Obese Insulin Resistant Adolescents With Normal Glucose Tolerance Completed NCT00667498 Phase 4 Metformin;Placebo
43 Effects of Hyperuricemia Reversal on Features of the Metabolic Syndrome Completed NCT01654276 Phase 4 Febuxostat
44 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
45 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
46 Testosterone Therapy of Men With Type 2 Diabetes Mellitus (T2DM) Completed NCT01560546 Phase 4 Testosterone;Placebo
47 Effect of Magnesium Administration in Subjects With Family History of Diabetes or Metabolic Syndrome Completed NCT01181830 Phase 4 magnesium pidolate;placebo
48 Cardiovascular Effects of Chronic Sildenafil in Men With Type 2 Diabetes Completed NCT00692237 Phase 4 Sildenafil;Placebo
49 Clomiphene Plus N-acetyl Cysteine for Induction of Ovulation in Newly Diagnosed Pcos. Completed NCT01896492 Phase 4 NAC
50 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

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

Publications for Hyperinsulinism

Articles related to Hyperinsulinism:

(show top 50) (show all 682)
# 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
Octreotide use and safety in infants with hyperinsulinism. ( 27910218 )
2017
24
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities. ( 28973288 )
2017
25
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism? ( 29127764 )
2017
26
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
27
Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study. ( 28740482 )
2017
28
Congenital Hyperinsulinism. ( 29131920 )
2017
29
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. ( 28242437 )
2017
30
Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism. ( 28787272 )
2017
31
Pancreatic uptake and radiation dosimetry of 6-[18F]fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism. ( 29117181 )
2017
32
Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria. ( 28752386 )
2017
33
Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism. ( 28576129 )
2017
34
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
35
Clinical practice guidelines for congenital hyperinsulinism. ( 28804205 )
2017
36
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism. ( 28491926 )
2017
37
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. ( 28605545 )
2017
38
Images from<sup>18</sup>F-DOPA Scan in Congenital Hyperinsulinism: Not Always a Clue for Diagnosis. ( 29242734 )
2017
39
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
40
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
41
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism. ( 29241206 )
2017
42
Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia. ( 28597971 )
2017
43
The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) - literature review. ( 29025242 )
2017
44
Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9. ( 28600547 )
2017
45
Hyperinsulinism-Causing Mutations Cause Multiple Molecular Defects in SUR1 NBD1. ( 28346775 )
2017
46
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
47
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
48
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report. ( 28439221 )
2017
49
Late presentation of necrotizing enterocolitis associated with rotavirus infection in a term infant with hyperinsulinism on octreotide therapy: A case report. ( 28984754 )
2017
50
Congenital Hyperinsulinism: Diagnosis and Treatment Update. ( 29280746 )
2017

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
2 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 GRCh37 Chromosome 20, 43034835: 43034835
3 KCNJ11 NM_000525.3(KCNJ11): c.185C> G (p.Thr62Arg) single nucleotide variant Likely pathogenic rs1057518775 GRCh38 Chromosome 11, 17387907: 17387907
4 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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 GCK GH1 IGF1 IGFBP3 INS INSR
2
Show member pathways
12.34 GCK GH1 INS LEP
3
Show member pathways
12.31 HNF4A IGF1 INS INSR LEP
4 12.29 GLUD1 HNF4A IGFBP1 IGFBP3 INS INSR
5
Show member pathways
12.22 APOB INS INSR SERPINE1
6
Show member pathways
12.06 GH1 GHRL IGF1 INS LEP
7
Show member pathways
11.9 GCK HNF4A INS INSR
8
Show member pathways
11.84 ABCC8 KCNJ11 KCNJ5
9 11.8 IGF1 IGFBP3 INS SERPINE1
10 11.78 GH1 IGF1 INS LEP SERPINE1
11
Show member pathways
11.77 GCK HNF4A INS
12 11.76 IGF1 INS INSR SERPINE1
13 11.5 ABCC8 KCNJ11 KCNJ5
14 11.46 ABCC8 KCNJ11 LEP
15 11.43 INS INSR LEP
16
Show member pathways
11.42 ABCC8 GCK HNF4A INS INSR KCNJ11
17 11.41 IGF1 INS INSR
18 11.37 GCK HNF4A IGFBP1 LEP SERPINE1
19 11.28 IGF1 INS INSR
20 11.27 IGFBP1 IGFBP3 SERPINE1
21 10.93 IGF1 IGFBP1 IGFBP3
22 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 extracellular region GO:0005576 9.7 APOB GH1 GHRL IGF1 IGFBP1 IGFBP3
2 endoplasmic reticulum lumen GO:0005788 9.65 APOB GHRL IGFBP1 IGFBP3 INS
3 inward rectifying potassium channel GO:0008282 9.4 ABCC8 KCNJ11
4 insulin-like growth factor ternary complex GO:0042567 9.37 IGF1 IGFBP3
5 endosome lumen GO:0031904 9.33 APOB GH1 INS
6 insulin-like growth factor binding protein complex GO:0016942 9.32 IGF1 IGFBP3
7 extracellular space GO:0005615 9.32 APOB GH1 GHRL IGF1 IGFBP1 IGFBP3

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.98 ABCC8 HADH KCNJ11 SST
2 cellular protein metabolic process GO:0044267 9.92 APOB IGF1 IGFBP1 IGFBP3 INS
3 regulation of signaling receptor activity GO:0010469 9.91 GH1 GHRL IGF1 INS LEP SERPINE1
4 activation of MAPK activity GO:0000187 9.87 GHRL IGF1 INS INSR
5 response to organic substance GO:0010033 9.85 APOB IGF1 INS
6 response to estradiol GO:0032355 9.84 APOB GH1 KCNJ11 LEP
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.83 GH1 IGF1 INS
8 insulin receptor signaling pathway GO:0008286 9.83 IGFBP1 INS INSR
9 response to glucose GO:0009749 9.83 HNF4A IGF1 INS
10 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.81 GH1 IGF1 LEP
11 response to insulin GO:0032868 9.8 HADH IGF1 INS LEP
12 positive regulation of MAPK cascade GO:0043410 9.8 IGF1 IGFBP3 INS INSR LEP
13 positive regulation of insulin secretion GO:0032024 9.77 GCK GHRL GLUD1
14 positive regulation of DNA replication GO:0045740 9.77 IGF1 INS INSR
15 activation of protein kinase B activity GO:0032148 9.76 IGF1 INS INSR
16 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 GH1 IGF1 INS LEP
17 positive regulation of glucose import GO:0046326 9.75 IGF1 INS INSR
18 negative regulation of insulin secretion GO:0046676 9.73 GHRL HADH KCNJ11
19 positive regulation of mitotic nuclear division GO:0045840 9.72 IGF1 INS INSR
20 regulation of insulin secretion GO:0050796 9.72 ABCC8 GCK HNF4A KCNJ11 LEP
21 positive regulation of glycolytic process GO:0045821 9.69 IGF1 INS INSR
22 negative regulation of gluconeogenesis GO:0045721 9.67 GCK INS
23 negative regulation of smooth muscle cell migration GO:0014912 9.66 IGFBP3 SERPINE1
24 positive regulation of growth GO:0045927 9.65 GH1 GHRL
25 positive regulation of insulin receptor signaling pathway GO:0046628 9.65 IGF1 INS LEP
26 glucose metabolic process GO:0006006 9.65 GCK GHRL INS KCNJ11 LEP
27 adult feeding behavior GO:0008343 9.64 GHRL LEP
28 cellular response to leptin stimulus GO:0044320 9.64 GCK LEP
29 regulation of insulin-like growth factor receptor signaling pathway GO:0043567 9.63 IGFBP1 IGFBP3
30 positive regulation of respiratory burst GO:0060267 9.62 INS INSR
31 neuron projection maintenance GO:1990535 9.62 INS INSR
32 bone mineralization involved in bone maturation GO:0035630 9.61 IGF1 LEP
33 positive regulation of developmental growth GO:0048639 9.61 INSR LEP
34 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.61 GH1 IGF1 IGFBP3
35 response to nutrient levels GO:0031667 9.55 GH1 GHRL IGF1 INS LEP
36 positive regulation of glycogen biosynthetic process GO:0045725 9.26 GCK IGF1 INS INSR
37 glucose homeostasis GO:0042593 9.1 GCK HNF4A IGF1 INS INSR LEP
38 negative regulation of apoptotic process GO:0043066 10.07 GHRL IGF1 INS INSR LEP

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 9.4 GLUD1 HADH
3 ATP-activated inward rectifier potassium channel activity GO:0015272 9.37 ABCC8 KCNJ11
4 insulin-like growth factor I binding GO:0031994 9.33 IGFBP1 IGFBP3 INSR
5 receptor activator activity GO:0030546 9.32 IGF1 INS
6 insulin-like growth factor II binding GO:0031995 9.13 IGFBP1 IGFBP3 INSR
7 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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