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MCID: HYP050
MIFTS: 55

Hyperinsulinemic Hypoglycemia

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hyperinsulinemic Hypoglycemia

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MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia:

Name: Hyperinsulinemic Hypoglycemia 12 30 15 17 74
Islet Cell Hyperplasia 12 30 6 41
Nesidioblastosis 12 45 74
Persistent Hyperinsulinemia Hypoglycemia of Infancy 12

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases Rare diseases
Anatomical: Endocrine diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:13317
MeSH 45 D046768
NCIt 51 C4375
SNOMED-CT 69 42681006 66149005
ICD10 34 E16.9
Sources

Summaries for Hyperinsulinemic Hypoglycemia

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Disease Ontology : 12 A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, also known as islet cell hyperplasia, is related to hyperinsulinemic hypoglycemia, familial, 3 and hyperinsulinemic hypoglycemia, familial, 7. An important gene associated with Hyperinsulinemic Hypoglycemia is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways/superpathways are Aldosterone synthesis and secretion and MAPK signaling pathway. The drugs Somatostatin and lanreotide have been mentioned in the context of this disorder. Affiliated tissues include pancreas, kidney and pancreatic islet, and related phenotypes are growth/size/body region and endocrine/exocrine gland

Wikipedia : 77 Hyperinsulinemic hypoglycemia describes the condition and effects of low blood glucose caused by... more...

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Related Diseases for Hyperinsulinemic Hypoglycemia

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Diseases in the Hyperinsulinemic Hypoglycemia family:

Hyperinsulinemic Hypoglycemia, Familial, 1 Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic Hypoglycemia, Familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic Hypoglycemia, Familial, 5 Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 7

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

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 3 34.7 ABCC8 GCK
2 hyperinsulinemic hypoglycemia, familial, 7 34.7 INS SLC16A1
3 hyperinsulinemic hypoglycemia, familial, 2 34.6 HNF4A KCNJ11
4 hyperinsulinemic hypoglycemia, familial, 6 34.2 GLUD1 HADH INS
5 insulinomatosis and diabetes mellitus 31.4 ABCC8 IGF2 INS SST
6 hypoglycemia 30.6 ABCC8 GCK GLUD1 HADH INS INSR
7 hirata disease 30.4 ABCC8 INS
8 dumping syndrome 30.1 INS SST
9 glucose intolerance 30.1 GCK INS INSR
10 insulinoma 30.1 ABCC8 GCK INS MEN1 SST
11 zollinger-ellison syndrome 30.1 MEN1 SST
12 beckwith-wiedemann syndrome 29.9 ABCC8 IGF2 INS
13 maturity-onset diabetes of the young 29.8 ABCC8 GCK HNF4A INS KCNJ11
14 fetal macrosomia 29.7 IGF2 INS INSR
15 gastrinoma 29.6 INS MEN1 SST
16 fasting hypoglycemia 29.6 GLUD1 IGF2 INSR
17 gestational diabetes 29.4 GCK HNF4A INS INSR KCNJ11
18 islet cell tumor 29.3 IGF2 INS MEN1 SST
19 diabetes mellitus 28.6 ABCC8 GCK HNF4A INS INSR KCNJ11
20 hyperinsulinism 28.5 ABCC8 GCK GLUD1 HADH HNF4A INS
21 hyperinsulinemic hypoglycemia, familial, 1 13.0
22 hyperinsulinemic hypoglycemia, familial, 5 12.9
23 hyperinsulinemic hypoglycemia, familial, 4 12.9
24 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 12.3
25 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.4
26 hyperinsulinism due to hnf4a deficiency 11.3
27 hyperinsulinism due to ucp2 deficiency 11.3
28 hyperinsulinism due to hnf1a deficiency 11.3
29 microcephaly, short stature, and impaired glucose metabolism 1 11.3
30 mahvash disease 11.2
31 degos 'en cocarde' erythrokeratoderma 10.5
32 cardiomyopathy, dilated, 1o 10.4 ABCC8 KCNJ11
33 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.4 ABCC8 KCNJ11
34 maturity-onset diabetes of the young, type 14 10.4 ABCC8 GCK
35 asphyxia neonatorum 10.3 ABCC8 SLC16A1
36 cantu syndrome 10.2 ABCC8 KCNJ11
37 fanconi-bickel syndrome 10.2 ABCC8 INS
38 munchausen by proxy 10.2 ABCC8 GCK KCNJ11
39 maturity-onset diabetes of the young, type 10 10.2 INS KCNJ11
40 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.2 INS INSR
41 usher syndrome, type ic 10.2 ABCC8 KCNJ11
42 sotos syndrome 1 10.2
43 costello syndrome 10.2
44 gastrointestinal stromal tumor 10.2
45 leptin deficiency or dysfunction 10.2
46 west syndrome 10.2
47 patulous eustachian tube 10.2
48 diarrhea 10.2
49 donohue syndrome 10.2 INS INSR
50 acute insulin response 10.1 ABCC8 INS KCNJ11

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia:



Diseases related to Hyperinsulinemic Hypoglycemia
Sources

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia

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MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10 GCK GLUD1 HADH HNF4A IGF2 INS
2 endocrine/exocrine gland MP:0005379 9.97 ABCC8 GCK GLUD1 HADH IGF2 INS
3 homeostasis/metabolism MP:0005376 9.93 ABCC8 GCK GLUD1 HADH HNF4A IGF2
4 digestive/alimentary MP:0005381 9.85 IGF2 INS INSR MEN1 SLC16A1 SST
5 adipose tissue MP:0005375 9.8 HADH INS INSR KCNJ11 SLC16A1
6 liver/biliary system MP:0005370 9.5 GCK HNF4A IGF2 INS INSR MEN1
7 mortality/aging MP:0010768 9.28 GCK HNF4A IGF2 INS INSR KCNJ11
Sources

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 38916-34-6, 51110-01-1 53481605
2
lanreotide Approved Phase 4 108736-35-2
3
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 83150-76-9 6400441 383414
4
Pasireotide Approved Phase 4,Phase 2,Phase 1 396091-73-9 9941444
5
Liraglutide Approved Phase 4 204656-20-2 44147092
6
Acarbose Approved, Investigational Phase 4,Phase 2 56180-94-0 441184
7
Verapamil Approved Phase 4 52-53-9 2520
8
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
9 Angiopeptin Phase 4
10 Hormones Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
12 Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
13 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
14 Incretins Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
15 Vasodilator Agents Phase 4,Phase 2,Phase 3,Early Phase 1
16 Sitagliptin Phosphate Phase 4
17 Calcium, Dietary Phase 4
18
protease inhibitors Phase 4
19 HIV Protease Inhibitors Phase 4
20 Anti-Arrhythmia Agents Phase 4,Early Phase 1
21 Dipeptidyl-Peptidase IV Inhibitors Phase 4
22 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
23 Cardiac Glycosides Phase 4,Phase 2
24 calcium channel blockers Phase 4
25
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
26
Glucagon Approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 16941-32-5
27
Dopamine Approved Phase 3,Phase 2,Phase 1 62-31-7, 51-61-6 681
28 Antihypertensive Agents Phase 2, Phase 3,Early Phase 1
29 Glucagon-Like Peptide 1 Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Early Phase 1
31 Dopamine Agents Phase 3,Phase 2,Phase 1
32 Dihydroxyphenylalanine Phase 3,Phase 2,Phase 1
33
Exenatide Approved, Investigational Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 141758-74-9 15991534
34
Pancrelipase Approved, Investigational Phase 2,Not Applicable 53608-75-6
35
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
36
tannic acid Approved Phase 1, Phase 2 1401-55-4
37 Anti-Obesity Agents Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
38 Gastrointestinal Agents Phase 2,Not Applicable,Early Phase 1
39 Insulin, Globin Zinc Phase 1, Phase 2,Not Applicable,Early Phase 1
40 insulin Phase 1, Phase 2,Not Applicable,Early Phase 1
41 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
42 Pharmaceutical Solutions Phase 2,Early Phase 1
43 pancreatin Phase 2,Not Applicable
44 lysine Phase 1, Phase 2
45 Radiopharmaceuticals Phase 1, Phase 2
46 Plasma Substitutes Phase 1, Phase 2
47 Blood Substitutes Phase 1, Phase 2
48 Polygeline Phase 1, Phase 2
49 Immunologic Factors Phase 1, Phase 2,Early Phase 1
50
Lactitol Investigational Phase 1 585-88-6, 585-86-4 493591

Interventional clinical trials:

(show all 44)
# 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 Treatment of Hypoglycemia Following Gastric Bypass Surgery Completed NCT02527993 Phase 4 Glucobay (acarbose);Januvia (sitagliptin);Verapamil HEXAL (verapamil);Victoza (liraglutide);Signifor (pasireotide)
3 Pasireotide in the Treatment of Hypoglycemia Following Gastric Bypass Surgery Enrolling by invitation NCT03514576 Phase 4 Pasireotide 0.3 MG/ML
4 Diazoxide In the Management Of Hypoglycemic Neonates Unknown status NCT00994149 Phase 2, Phase 3 Diazoxide;Ora-plus
5 Open-label Trial Evaluating Efficacy and Safety of Dasiglucagon in Children With Congenital Hyperinsulinism Recruiting NCT03777176 Phase 3 dasiglucagon
6 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
7 Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon in Children With Congenital Hyperinsulinism Enrolling by invitation NCT03941236 Phase 3 dasiglucagon
8 68Ga-NODAGA-exendin-4 PET/CT for Diagnostic Imaging in AHH Unknown status NCT03189953 Phase 1, Phase 2
9 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
10 A Single-Dose Open-Label Study of XOMA 358 in Subjects With Congenital Hyperinsulinism Completed NCT02604485 Phase 2 Cohort 1;Cohort 2;Cohort 3;Cohort 4
11 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
12 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
13 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
14 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Completed NCT00674440 Phase 2 F-DOPA
15 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
16 Efficacy, Tolerability and Pharmacokinetics of Subcutaneous Exendin (9-39) in Patients With Post Bariatric Hypoglycemia Completed NCT02771574 Phase 2 Exendin (9-39)
17 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
18 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Recruiting NCT02685852 Phase 2 Exenatide;Acarbose;Placebo
19 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, Phase 2 exendin-(9-39)
20 Glucagon Ready to Use (RTU) in Subjects With Hyperinsulinemic Hypoglycemia After Bariatric Surgery Not yet recruiting NCT03770637 Phase 2 Glucagon RTU
21 Pasireotide in Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
22 Sirolimus for the Treatment of Hyperinsulinism Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
23 Evaluation of Single Ascending Doses of Subcutaneous Exendin 9-39 in Patients With Post-Bariatric Hypoglycemia Unknown status NCT02996812 Phase 1 Exendin (9-39)
24 GLP1R-imaging in Hypoglycemia Unknown status NCT03182192 Phase 1
25 Role of GLP-1 in Hyperinsulinemic Hypoglycemia Post-bariatric Surgery Unknown status NCT02550145 Phase 1 Exendin (9-39)
26 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
27 Fluorodopa F 18 in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
28 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
29 Etiology, Assessment and Treatment of Post-gastric Bypass Severe Hypoglycemia Unknown status NCT01865760 Not Applicable Octreotide;Synthetic Exendin 9-39
30 68Ga-NOTA-exendin-4 PET/CT for the Localization of Insulinoma and Diagnosis of Nesidioblastosis Unknown status NCT02560376 Early Phase 1 68Ga-NOTA-exendin-4
31 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
32 Post-Gastric Bypass Hypoglycemia Completed NCT01933490 Not Applicable
33 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541 Not Applicable
34 Understanding Hypoglycaemia After Bariatric Surgery Completed NCT03609632 Not Applicable
35 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Completed NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
36 Adrenergic System in Islet Transplantation Recruiting NCT03079921 Early Phase 1 Phentolamine;Propranolol;Placebo
37 GLP-1 Receptor Expression in CHI Recruiting NCT03768518
38 Bionic Pancreas in Children With Hyperinsulinism and Post-Pancreatectomy Diabetes Recruiting NCT03303196 Not Applicable
39 Application of Raw Corn Starch on Patients With Insulinoma Recruiting NCT03930368 Not Applicable
40 Role of Neural and Hormonal Regulation Factors on Insulin Secretion After Gastric Bypass Surgery Recruiting NCT00992901 Early Phase 1 Exendin-(9-39);Atropine;GLP-1 and GIP
41 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222 Not Applicable
42 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
43 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
44 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia

Cochrane evidence based reviews: nesidioblastosis

Sources

Genetic Tests for Hyperinsulinemic Hypoglycemia

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Genetic tests related to Hyperinsulinemic Hypoglycemia:

# Genetic test Affiliating Genes
1 Islet Cell Hyperplasia 30 KCNJ11
2 Hyperinsulinemic Hypoglycemia 30
Sources

Anatomical Context for Hyperinsulinemic Hypoglycemia

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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

42
Pancreas, Kidney, Pancreatic Islet, Pituitary, Liver, Brain, Testes
Sources

Publications for Hyperinsulinemic Hypoglycemia

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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50) (show all 351)
# Title Authors Year
1
Glucagon-like peptide 1 (GLP-1) drives postprandial hyperinsulinemic hypoglycemia in pregnant women with a history of Roux-en-Y gastric bypass operation. ( 30448278 )
2019
2
Hyperinsulinemic hypoglycemia subtype glucokinase V91L mutant induces necrosis in β-cells via ATP depletion. ( 30623114 )
2019
3
Hyperinsulinemic Hypoglycemia in a Neonate. ( 30692138 )
2019
4
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. ( 30719864 )
2019
5
Letters about Published Papers Letters of comment about recently published papers should be sent by email to: bgoldspiel@verizon.net. ( 30760166 )
2019
6
A novel treatment of hyperinsulinemic hypoglycemia induced by insulin antibodies with alkali administration: a case report. ( 30853027 )
2019
7
Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study. ( 30882046 )
2019
8
Tracer Accumulation in Relation to Venous Thrombus on 18F-DOPA PET/CT in a Case of Persistent Hyperinsulinemic Hypoglycemia of Infancy. ( 31057687 )
2019
9
Clinical and Enzymatic Phenotypes in Congenital Hyperinsulinemic Hypoglycemia due to Glucokinase-activating Mutations: a report of two cases and a brief overview of literature. ( 31094068 )
2019
10
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy. ( 29355723 )
2018
11
Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia ( 29217498 )
2018
12
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant. ( 29531722 )
2018
13
Hyperinsulinemic hypoglycemia without insulinoma: Think of activating glucokinase mutation. ( 29555163 )
2018
14
Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome. ( 29601900 )
2018
15
68Ga DOTA-Exendin PET/CT for Detection of Insulinoma in a Patient With Persistent Hyperinsulinemic Hypoglycemia. ( 29877881 )
2018
16
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis. ( 29958183 )
2018
17
Safety and effectiveness, including intelligence prognosis, of diazoxide in pediatric patients with hyperinsulinemic hypoglycemia: special survey in Japan (long-term, all-case survey). ( 30083030 )
2018
18
Resolution of hyperinsulinemic hypoglycemia following partial pancreatectomy in a dog with nesidioblastosis. ( 30211650 )
2018
19
Evidence of unrestrained beta-cell proliferation and neogenesis in a patient with hyperinsulinemic hypoglycemia after gastric bypass surgery. ( 30311843 )
2018
20
A case of hyperinsulinemic hypoglycemia related with a calcimimetic agent. ( 30603367 )
2018
21
One-Anastomosis Jejunal Interposition with Gastric Remnant Resection (Branco-Zorron Switch) for Severe Recurrent Hyperinsulinemic Hypoglycemia after Gastric Bypass for Morbid Obesity. ( 27738969 )
2017
22
Postprandial hyperinsulinemic hypoglycemia after Roux-en-Y gastric bypass: an update. ( 27865808 )
2017
23
Assessment of Nifedipine Therapy in Hyperinsulinemic Hypoglycemia due to Mutations in the ABCC8 Gene. ( 27898257 )
2017
24
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. ( 28102591 )
2017
25
ASMBS Position Statement on Postprandial Hyperinsulinemic Hypoglycemia after Bariatric Surgery. ( 28110984 )
2017
26
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia: RETRACTED. ( 28288081 )
2017
27
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. ( 28373276 )
2017
28
Portosystemic shunt as a cause of congenital hyperinsulinemic hypoglycemia. ( 28401743 )
2017
29
Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia. ( 28458896 )
2017
30
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. ( 28656511 )
2017
31
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28672750 )
2017
32
Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia. ( 28715810 )
2017
33
"Riding High on Low Fuel" - Our Experience with Endogenous Hyperinsulinemic Hypoglycemia. ( 28989869 )
2017
34
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. ( 29087246 )
2017
35
Hyperinsulinemic hypoglycemia after gastric bypass surgery: what's up and what's down? ( 29087389 )
2017
36
Selective Arterial Calcium Stimulation with Hepatic Venous Sampling in Patients with Recurrent Endogenous Hyperinsulinemic Hypoglycemia and Metastatic Insulinoma: Evaluation in Five Patients. ( 29157479 )
2017
37
Is testing for postprandial hyperinsulinemic hypoglycemia after gastric bypass necessary? ( 29208421 )
2017
38
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. ( 26572961 )
2016
39
Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation. ( 26487424 )
2016
40
Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children. ( 26490124 )
2016
41
Recognition and management of hyperinsulinemic hypoglycemia after bariatric surgery. ( 26522879 )
2016
42
Safety and tolerability of diazoxide in Japanese patients with hyperinsulinemic hypoglycemia. ( 26598136 )
2016
43
Synchronous Nesidioblastosis, Endocrine Microadenoma, and Intraductal Papillary Mucinous Neoplasia in a Man Presenting With Hyperinsulinemic Hypoglycemia. ( 26658039 )
2016
44
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia. ( 26882312 )
2016
45
Hyperinsulinemic Hypoglycemia after Bariatric Surgery: Diagnosis and Management Experience from a Spanish Multicenter Registry. ( 26901345 )
2016
46
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms. ( 27065949 )
2016
47
Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey. ( 27181376 )
2016
48
Single incision laparoscopic 90 % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
49
Incidence and Predictive Factors of Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y Gastric Bypass: A Five year Longitudinal Study. ( 27560624 )
2016
50
Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings. ( 27771675 )
2016
Sources

Variations for Hyperinsulinemic Hypoglycemia

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ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia:

6 (show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh37 Chromosome 11, 17409199: 17409199
2 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh38 Chromosome 11, 17387652: 17387652
3 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh37 Chromosome 11, 17409603: 17409603
4 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh38 Chromosome 11, 17388056: 17388056
5 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
6 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh38 Chromosome 11, 17388225: 17388225
7 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
8 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh38 Chromosome 11, 17387331: 17387331
9 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh37 Chromosome 11, 17408863: 17408863
10 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh38 Chromosome 11, 17387316: 17387316
11 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
12 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh38 Chromosome 11, 17388025: 17388025
13 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
14 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh38 Chromosome 11, 17387190: 17387190
15 KCNJ11 NM_000525.3(KCNJ11): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17409173: 17409173
16 KCNJ11 NM_000525.3(KCNJ11): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 17387626: 17387626
17 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic/Likely pathogenic rs267607196 GRCh37 Chromosome 11, 17408795: 17408795
18 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic/Likely pathogenic rs267607196 GRCh38 Chromosome 11, 17387248: 17387248
19 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh37 Chromosome 11, 17408496: 17408496
20 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh38 Chromosome 11, 17386949: 17386949
21 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh37 Chromosome 11, 17408630: 17408630
22 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh38 Chromosome 11, 17387083: 17387083
23 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh37 Chromosome 11, 17408831: 17408831
24 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh38 Chromosome 11, 17387284: 17387284
25 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh37 Chromosome 11, 17408838: 17408838
26 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh38 Chromosome 11, 17387291: 17387291
27 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh37 Chromosome 11, 17409055: 17409055
28 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh38 Chromosome 11, 17387508: 17387508
29 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh37 Chromosome 11, 17409069: 17409069
30 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh38 Chromosome 11, 17387522: 17387522
31 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh37 Chromosome 11, 17409176: 17409176
32 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh38 Chromosome 11, 17387629: 17387629
33 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh37 Chromosome 11, 17409478: 17409478
34 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh38 Chromosome 11, 17387931: 17387931
35 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs1440128889 GRCh38 Chromosome 11, 17386949: 17386954
36 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs1440128889 GRCh37 Chromosome 11, 17408496: 17408501
37 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
38 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh37 Chromosome 11, 17408758: 17408758
39 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
40 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
41 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
42 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
43 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh38 Chromosome 11, 17388013: 17388013
44 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
45 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh38 Chromosome 11, 17387938: 17387938
46 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh37 Chromosome 11, 17409485: 17409485
47 KCNJ11 NM_000525.3(KCNJ11): c.80G> A (p.Arg27His) single nucleotide variant Uncertain significance rs774714794 GRCh37 Chromosome 11, 17409559: 17409559
48 KCNJ11 NM_000525.3(KCNJ11): c.80G> A (p.Arg27His) single nucleotide variant Uncertain significance rs774714794 GRCh38 Chromosome 11, 17388012: 17388012
49 KCNJ11 NM_000525.3(KCNJ11): c.1093C> T (p.Arg365Cys) single nucleotide variant Uncertain significance rs758749160 GRCh37 Chromosome 11, 17408546: 17408546
50 KCNJ11 NM_000525.3(KCNJ11): c.1093C> T (p.Arg365Cys) single nucleotide variant Uncertain significance rs758749160 GRCh38 Chromosome 11, 17386999: 17386999
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Expression for Hyperinsulinemic Hypoglycemia

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Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia.
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Pathways for Hyperinsulinemic Hypoglycemia

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Pathways related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Aldosterone synthesis and secretion 38
Show member pathways
 12.57 ABCC8 GCK INS KCNJ11
2
MAPK signaling pathway 1 38
12.34 GCK IGF2 INS INSR
3
Glucose / Energy Metabolism 4
12.05 GLUD1 HNF4A INS INSR
4
Integration of energy metabolism 67
Show member pathways
 12.01 ABCC8 INS KCNJ11
5
Hepatic ABC Transporters 65
Show member pathways
 11.55 GCK HNF4A INS INSR
6
Regulation of beta-cell development 67
Show member pathways
 11.5 GCK HNF4A INS
7
Type II diabetes mellitus 1 38
Show member pathways
 11.42 ABCC8 GCK HNF4A INS INSR KCNJ11
8
Aldosterone-regulated sodium reabsorption 38
11.02 INS INSR
9
Insulin-mediated glucose transport 1
10.9 INS INSR
10
FOXA2 and FOXA3 transcription factor networks 1
10.74 ABCC8 GCK HADH HNF4A INS KCNJ11
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GO Terms for Hyperinsulinemic Hypoglycemia

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Cellular components related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

Biological processes related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.81 ABCC8 HADH KCNJ11 SST
2 cellular protein metabolic process GO:0044267 9.77 IGF2 INS MEN1
3 positive regulation of protein kinase B signaling GO:0051897 9.75 IGF2 INS INSR
4 positive regulation of MAPK cascade GO:0043410 9.72 IGF2 INS INSR
5 carbohydrate metabolic process GO:0005975 9.71 GCK IGF2 INS INSR
6 insulin receptor signaling pathway GO:0008286 9.65 IGF2 INS INSR
7 activation of protein kinase B activity GO:0032148 9.59 INS INSR
8 positive regulation of glucose import GO:0046326 9.58 INS INSR
9 positive regulation of glycolytic process GO:0045821 9.57 INS INSR
10 cellular glucose homeostasis GO:0001678 9.56 ABCC8 GCK
11 glucose metabolic process GO:0006006 9.56 GCK IGF2 INS KCNJ11
12 glucose homeostasis GO:0042593 9.55 GCK HNF4A INS INSR SLC16A1
13 positive regulation of insulin receptor signaling pathway GO:0046628 9.54 IGF2 INS
14 negative regulation of insulin secretion GO:0046676 9.54 ABCC8 HADH KCNJ11
15 negative regulation of gluconeogenesis GO:0045721 9.52 GCK INS
16 positive regulation of mitotic nuclear division GO:0045840 9.5 IGF2 INS INSR
17 neuron projection maintenance GO:1990535 9.49 INS INSR
18 exocrine pancreas development GO:0031017 9.46 IGF2 INSR
19 positive regulation of respiratory burst GO:0060267 9.43 INS INSR
20 regulation of insulin secretion GO:0050796 9.35 ABCC8 GCK HNF4A KCNJ11 SLC16A1
21 positive regulation of glycogen biosynthetic process GO:0045725 8.92 GCK IGF2 INS INSR

Molecular functions related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 IGF2 INS SST
2 insulin receptor binding GO:0005158 9.32 IGF2 INS
3 NAD+ binding GO:0070403 9.26 GLUD1 HADH
4 insulin-like growth factor receptor binding GO:0005159 8.8 IGF2 INS INSR
5 ATP-activated inward rectifier potassium channel activity GO:0015272 8.65 KCNJ11
Sources

Sources for Hyperinsulinemic Hypoglycemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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