MCID: HYP060
MIFTS: 58

Hyperinsulinism malady

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, 5 and hyperinsulinism-hyperammonemia syndrome. An important gene associated with Hyperinsulinism is INS (Insulin), 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, pancreas and testes, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 71 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:

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

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

(show top 50) (show all 179)
id Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 5 32.2 IGF1 IGFBP3 INS INSR
2 hyperinsulinism-hyperammonemia syndrome 12.2
3 abcc8-related hyperinsulinism 11.8
4 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.8
5 hyperinsulinemic hypoglycemia, familial, 2 11.7
6 glud1-related hyperinsulinism 11.7
7 slc16a1-related hyperinsulinism 11.6
8 gck-related hyperinsulinism 11.6
9 hadh-related hyperinsulinism 11.6
10 hyperinsulinism due to glucokinase deficiency 11.6
11 hnf4a-related hyperinsulinism 11.6
12 hyperinsulinism due to glutamodehydrogenase deficiency 11.6
13 insr-related hyperinsulinism 11.6
14 hyperinsulinism, diffuse 11.6
15 kcnj11-related hyperinsulinism 11.6
16 hyperinsulinism, focal 11.6
17 hyperinsulinism due to hnf4a deficiency 11.6
18 hyperinsulinism due to ucp2 deficiency 11.6
19 hyperinsulinism due to hnf1a deficiency 11.6
20 hyperinsulinemic hypoglycemia, familial, 1 11.6
21 hyperinsulinemic hypoglycemia, familial, 4 11.4
22 hyperinsulinemic hypoglycemia, familial, 7 10.9
23 hyperinsulinemic hypoglycemia, familial, 3 10.9
24 fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 10.8
25 gallbladder disease 1 10.8
26 11p15-p14 deletion syndrome 10.7
27 microcephaly, short stature, and impaired glucose metabolism 10.3 ABCC8 HADH
28 pancreatitis 10.3
29 intellectual disability-developmental delay-contractures syndrome 10.3 INS INSR
30 diaphanospondylodysostosis 10.3 ABCC8 GCK
31 hyperammonemia 10.3
32 hypercholesterolemia, familial 10.3 ABCC8 INSR
33 nosophobia 10.3 ABCC8 GCK KCNJ11
34 hypoglycemia 10.3
35 image syndrome 10.3 GLUD1 INS KCNJ5
36 deafness, autosomal recessive 66 10.3 ABCC8 INS KCNJ11
37 maple syrup urine disease, mild variant 10.3 GCK GLUD1 HADH
38 obesity 10.3
39 labyrinthine unilateral reactive loss 10.2 ABCC8 GCK INS KCNJ11
40 noonan syndrome 3 10.2 ABCC8 KCNJ11
41 perry syndrome 10.2 INS KCNJ11 LEP
42 merkel cell carcinoma 10.2 INS KCNJ5 SST
43 non-syndromic intellectual disability 10.2 ABCC8 GCK INS KCNJ11
44 focal segmental glomerulosclerosis 8 10.2 ABCC8 GCK INS KCNJ11
45 vaginal adenoma 10.2 IGF1 SST
46 femur bifid with monodactylous ectrodactyly 10.2 GLUD1 IGF1 INSR
47 ischemic heart disease 10.1 ABCC8 GCK INS SST
48 sohval soffer syndrome 10.1 IGF1 IGFBP3
49 urethra clear cell adenocarcinoma 10.1 IGF1 INS SST
50 diabetes mellitus, insulin-dependent, 2 10.1 IGFBP1 INS SHBG

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 LEP SERPINE1 SST UCP2 APOB GCK
2 homeostasis/metabolism MP:0005376 10.16 HNF4A IGF1 IGFBP3 INS INSR KCNJ11
3 endocrine/exocrine gland MP:0005379 10.11 ABCC8 GCK GHRL GLUD1 HADH IGF1
4 adipose tissue MP:0005375 10.06 GHRL HADH IGF1 IGFBP3 INS INSR
5 liver/biliary system MP:0005370 9.81 INSR LEP SERPINE1 APOB GCK HNF4A
6 muscle MP:0005369 9.5 APOB IGF1 IGFBP3 INS INSR KCNJ11
7 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 796)
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
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, Experimental 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
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-18-4 6010
29
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-22-0 6013
30
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 50-28-2 5757 53477783
31
Norethindrone Approved Phase 4,Phase 2 68-22-4 6230
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 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 2108)
id Name Status NCT ID Phase
1 Lanreotide Autogel Treatment of Patients With Congenital Hyperinsulinism of Infancy Unknown status NCT01070758 Phase 4
2 Effectiveness of Metformin in Recurrent Miscarriage in a Woman With Hyperinsulinaemia Unknown status NCT01718340 Phase 4
3 Comparison of NODAT in Kidney Transplant Patients Receiving Belatacept Versus Standard Immunosuppression Unknown status NCT01875224 Phase 4
4 Effect of COX-2 Selective Inhibitors on Postoperative Insulin Resistance After Gastrointestinal Laparoscopic Surgery Unknown status NCT01930318 Phase 4
5 Pegylated-Interferon and Ribavirin Plus Metformin in the Treatment of Chronic HCV Infection and Insulin Resistance Unknown status NCT00370617 Phase 4
6 Study of Efficacy of Metformin in the Treatment of Acanthosis Nigricans in Children With Obesity Unknown status NCT02438020 Phase 4
7 Curcumin for Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4
8 PCOS, Therapy and Markers of Cardiovascular Risk Unknown status NCT01798875 Phase 4
9 52 Week Trial of Liraglutide in Type 1 Diabetes Unknown status NCT01787916 Phase 4
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
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
14 Insulin Resistance and Vessel Function After Meals: Does Early Intervention Make a Difference? Unknown status NCT00259168 Phase 4
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
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
19 Regression of Fatty Heart by Valsartan Therapy Unknown status NCT00745953 Phase 4
20 Diurnal Variation of Plasminogen Activator Inhibitor-1 Unknown status NCT00515021 Phase 4
21 Cortisol and Nutritional Sympathetic Responsiveness Unknown status NCT01620684 Phase 4
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
24 Effect of Linagliptin on Insulin Sensitivity and Pancreatic Beta Cell Function in Patients With Type 2 Diabetes Mellitus Unknown status NCT02097342 Phase 4
25 Odense Androgen Study - The Effect of Testim and Training in Hypogonadal Men Unknown status NCT00700024 Phase 4
26 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4
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
29 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
30 Trial of Supplementation With Aged Garlic Extract to Improve Endothelial Function in Patients With Metabolic Syndrome Unknown status NCT01168700 Phase 4
31 Effects of Ezetimibe, Simvastatin, and Vytorin on Reducing L5 a Subfraction of LDL in Patients With Metabolic Syndrome. Unknown status NCT00988364 Phase 4
32 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4
33 Effect of Growth Hormone in Metabolic Syndrome Unknown status NCT00307411 Phase 4
34 Pioglitazone Vs Placebo in Combination With Niacin Extended Release on Low HDL Unknown status NCT00300365 Phase 4
35 The Incidence and Treatment of Insulin Resistance Among Men With Erectile Dysfunction Unknown status NCT00284960 Phase 4
36 Study to Examine Insulin Resistance During Growth Hormone Treatment for Short Stature Due to Low Birthweight Unknown status NCT00120497 Phase 4
37 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4
38 Role of Inflammation Factors and Insulin Resistance in Major Depressive Disorder Unknown status NCT01699490 Phase 4
39 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4
40 Increasing Cure Rate of Hepatitis C Therapy in Obese Hepatitis C Patients Unknown status NCT00871845 Phase 4
41 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness Unknown status NCT00573950 Phase 4
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
44 Effects of Hyperuricemia Reversal on Features of the Metabolic Syndrome Completed NCT01654276 Phase 4
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
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
47 Testosterone Therapy of Men With Type 2 Diabetes Mellitus (T2DM) Completed NCT01560546 Phase 4
48 Effect of Magnesium Administration in Subjects With Family History of Diabetes or Metabolic Syndrome Completed NCT01181830 Phase 4
49 Cardiovascular Effects of Chronic Sildenafil in Men With Type 2 Diabetes Completed NCT00692237 Phase 4
50 Clomiphene Plus N-acetyl Cysteine for Induction of Ovulation in Newly Diagnosed Pcos. Completed NCT01896492 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, Pancreas, Testes, Pancreatic Islet, Brain, B Cells, Heart

Publications for Hyperinsulinism

Articles related to Hyperinsulinism:

(show top 50) (show all 621)
id Title Authors Year
1
Octreotide use and safety in infants with hyperinsulinism. ( 27910218 )
2017
2
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
3
Clinical and genetic characterization of congenital hyperinsulinism in Spain. ( 27188453 )
2016
4
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. ( 27691052 )
2016
5
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. ( 26908106 )
2016
6
Hyperinsulinism Hyperammonemia Syndrome, a Rare Clinical Constellation. ( 26962538 )
2016
7
Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism. ( 26903946 )
2016
8
A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA). ( 26656609 )
2016
9
A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report. ( 26839063 )
2016
10
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. ( 27174046 )
2016
11
Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease. ( 27334808 )
2016
12
Fluoxetine induced Hypoglycaemia in a patient with persistent form of Congenital Hyperinsulinism (CHI) on Lanreotide Therapy. ( 27087264 )
2016
13
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2 (UCP2). ( 27967291 )
2016
14
Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. ( 27777708 )
2016
15
A novel factor for primary arteriovenous fistula failure: hyperinsulinism. ( 27466042 )
2016
16
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. ( 27173951 )
2016
17
A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism. ( 28018462 )
2016
18
A Rare Reason of Hyperinsulinism: Munchausen Syndrome by Proxy. ( 27221098 )
2016
19
A NOVEL HOMOZYGOUS MUTATION IN THE KCNJ11 GENE p.F315I OF A NEONATE WITH CONGENITAL HYPERINSULINISM AND SUCCESFUL MANAGEMENT BY SIROLIMUS. ( 27181099 )
2016
20
Organic hyperinsulinism: radiological diagnostics and surgical treatment. ( 27296118 )
2016
21
Hyperinsulinism in neonates of diabetic mothers: guardian of the brain? ( 27062424 )
2016
22
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. ( 27908292 )
2016
23
Diagnosis of ABCC8 congenital hyperinsulinism of infancy in a 20 year-old man evaluated for factitious hypoglycemia. ( 27754802 )
2016
24
Late Presentation of Fulminant Necrotizing Enterocolitis in a Child with Hyperinsulinism on Octreotide Therapy. ( 26867223 )
2016
25
Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature. ( 27383869 )
2016
26
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. ( 27682711 )
2016
27
Iatrogenic Necrolytic Migratory Erythema in an Infant with Congenital Hyperinsulinism. ( 26648573 )
2016
28
Arterial Calcium Stimulation with Hepatic Venous Sampling in the Localization Diagnosis of Endogenous Hyperinsulinism. ( 27795707 )
2016
29
Coffin-Siris syndrome with cafAc-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. ( 27672547 )
2016
30
Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood. ( 27552834 )
2016
31
Oral Therapy in a Diabetic Patient With History of Infantile Hyperinsulinism. ( 26396703 )
2015
32
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. ( 25639667 )
2015
33
Hyperinsulinism and polycystic ovary syndrome (PCOS): role of insulin clearance. ( 26294351 )
2015
34
Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction. ( 25819479 )
2015
35
Paraneoplastic Hyperinsulinism due to Renal Cell Carcinoma Treated With Robotic Nephrectomy. ( 26459041 )
2015
36
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. ( 25555642 )
2015
37
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. ( 26740944 )
2015
38
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. ( 26545876 )
2015
39
Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with Costello syndrome: Case report and review of the literature. ( 25668678 )
2015
40
Nifedipine in Congenital Hyperinsulinism - A Case Report. ( 26316440 )
2015
41
Focal form of congenital hyperinsulinism clearly detectable by contrast-enhanced computed tomography imaging. ( 26379717 )
2015
42
(18) Fluoro-dihydroxy phenylalanine positron emission tomography/computed tomography scanning for congenital hyperinsulinism of infancy. ( 25622923 )
2015
43
Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers. ( 26608306 )
2015
44
Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations. ( 26581065 )
2015
45
Subtotal Pancreatectomy for Congenital Hyperinsulinism: Our Experience and Review of Literature. ( 27011456 )
2015
46
Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8. ( 26092864 )
2015
47
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. ( 26180531 )
2015
48
A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by (18)F-DOPA-PET/CT scan. ( 26162674 )
2015
49
Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects. ( 25444530 )
2015
50
Policaptil Gel Retard significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with family history of obesity and T2DM. ( 25774705 )
2015

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 22)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 GCK IGF1 IGFBP3 INS INSR SERPINE1
2
Show member pathways
12.3 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
12.22 APOB INS INSR SERPINE1
6
Show member pathways
12.15 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 11.7 IGF1 INS INSR SERPINE1
12 11.65 IGF1 IGFBP3 INS LEP
13 11.5 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.96 APOB GHRL IGF1 IGFBP1 IGFBP3 INS
2 voltage-gated potassium channel complex GO:0008076 9.58 ABCC8 KCNJ11 KCNJ5
3 endoplasmic reticulum lumen GO:0005788 9.55 APOB GHRL IGFBP1 IGFBP3 INS
4 endosome lumen GO:0031904 9.43 APOB INS
5 ATP-sensitive potassium channel complex GO:0008282 9.37 ABCC8 KCNJ11
6 insulin-like growth factor ternary complex GO:0042567 9.32 IGF1 IGFBP3
7 extracellular space GO:0005615 9.28 APOB GHRL IGF1 IGFBP1 IGFBP3 INS
8 insulin-like growth factor binding protein complex GO:0016942 8.96 IGF1 IGFBP3

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 activation of MAPK activity GO:0000187 9.83 GHRL IGF1 INSR
2 cellular protein metabolic process GO:0044267 9.83 APOB IGF1 IGFBP1 IGFBP3 INS
3 response to estradiol GO:0032355 9.82 APOB KCNJ11 LEP
4 female pregnancy GO:0007565 9.81 ABCC8 LEP UCP2
5 cellular response to insulin stimulus GO:0032869 9.79 GCK INSR UCP2
6 positive regulation of protein kinase B signaling GO:0051897 9.79 INS INSR LEP
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 9.64 IGFBP3 SERPINE1
19 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.63 IGF1 IGFBP3
20 positive regulation of mitotic nuclear division GO:0045840 9.63 IGF1 INS INSR
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 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

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