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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 29 15 73
Islet Cell Hyperplasia 12 29 6 40
Nesidioblastosis 12 44 73
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: 33


External Ids:

Disease Ontology 12 DOID:13317
ICD10 33 E16.9
MeSH 44 D046768
NCIt 50 C4375
SNOMED-CT 68 42681006 66149005
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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, 7 and hyperinsulinemic hypoglycemia, familial, 3. 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 Octreotide have been mentioned in the context of this disorder. Affiliated tissues include pancreas, pancreatic islet and kidney, and related phenotypes are growth/size/body region and endocrine/exocrine gland

Wikipedia : 76 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 156)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 7 34.5 INS SLC16A1
2 hyperinsulinemic hypoglycemia, familial, 3 34.5 ABCC8 GCK
3 hyperinsulinemic hypoglycemia, familial, 2 34.5 HNF4A KCNJ11
4 hyperinsulinemic hypoglycemia, familial, 6 34.1 GLUD1 HADH INS
5 insulinomatosis and diabetes mellitus 31.6 ABCC8 IGF2 INS SST
6 hypoglycemia 31.0 ABCC8 GCK GLUD1 HADH INS INSR
7 insulinoma 30.3 ABCC8 GCK INS MEN1 SST
8 hirata disease 30.3 ABCC8 INS
9 dumping syndrome 30.1 INS SST
10 glucose intolerance 30.1 GCK INS INSR
11 beckwith-wiedemann syndrome 30.0 ABCC8 IGF2 INS
12 maturity-onset diabetes of the young 30.0 ABCC8 GCK HNF4A INS KCNJ11
13 fetal macrosomia 29.8 IGF2 INS INSR
14 zollinger-ellison syndrome 29.8 MEN1 SST
15 gastrinoma 29.6 INS MEN1 SST
16 fasting hypoglycemia 29.6 GLUD1 IGF2 INSR
17 gestational diabetes 29.6 GCK HNF4A INS INSR KCNJ11
18 islet cell tumor 29.5 IGF2 INS MEN1 SST
19 hyperglycemia 29.3 ABCC8 GCK INS INSR KCNJ11 SST
20 diabetes mellitus 29.2 ABCC8 GCK HNF4A INS INSR KCNJ11
21 hyperinsulinism 29.0 ABCC8 GCK GLUD1 HADH HNF4A INS
22 diabetes mellitus, noninsulin-dependent 28.7 ABCC8 GCK HNF4A IGF2 INS INSR
23 hyperinsulinemic hypoglycemia, familial, 1 12.9
24 hyperinsulinemic hypoglycemia, familial, 5 12.9
25 hyperinsulinemic hypoglycemia, familial, 4 12.8
26 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 12.3
27 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.4
28 hyperinsulinism due to hnf4a deficiency 11.3
29 hyperinsulinism due to ucp2 deficiency 11.3
30 hyperinsulinism due to hnf1a deficiency 11.3
31 microcephaly, short stature, and impaired glucose metabolism 1 11.2
32 mahvash disease 11.2
33 degos 'en cocarde' erythrokeratoderma 10.5
34 cardiomyopathy, dilated, 1o 10.2 ABCC8 KCNJ11
35 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.2 ABCC8 KCNJ11
36 maturity-onset diabetes of the young, type 14 10.2 ABCC8 GCK
37 asphyxia neonatorum 10.2 ABCC8 SLC16A1
38 diarrhea 10.2
39 cantu syndrome 10.2 ABCC8 KCNJ11
40 fanconi-bickel syndrome 10.2 ABCC8 INS
41 sotos syndrome 1 10.2
42 costello syndrome 10.2
43 gastrointestinal stromal tumor 10.2
44 morbid obesity 10.2
45 munchausen by proxy 10.2 ABCC8 GCK KCNJ11
46 maturity-onset diabetes of the young, type 10 10.1 INS KCNJ11
47 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.1 INS INSR
48 usher syndrome, type ic 10.1 ABCC8 KCNJ11
49 donohue syndrome 10.1 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:

46
# 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 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 51110-01-1, 38916-34-6 53481605
2
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 83150-76-9 383414 6400441
3 lanreotide Approved Phase 4 108736-35-2
4
Verapamil Approved Phase 4 52-53-9 2520
5
Liraglutide Approved Phase 4 204656-20-2 44147092
6
Pasireotide Approved Phase 4,Phase 2,Phase 1 396091-73-9 9941444
7
Acarbose Approved, Investigational Phase 4,Phase 2 56180-94-0 441184
8 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
9 Angiopeptin Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
11 Hormones Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Vasodilator Agents Phase 4,Phase 2,Phase 3,Early Phase 1
13 Incretins Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
14 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
15 Calcium, Dietary Phase 4
16 Sitagliptin Phosphate Phase 4
17 Anti-Arrhythmia Agents Phase 4,Early Phase 1
18 calcium channel blockers Phase 4
19 Cardiac Glycosides Phase 4,Phase 2
20 Dipeptidyl-Peptidase IV Inhibitors Phase 4
21 HIV Protease Inhibitors Phase 4
22 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
23
protease inhibitors Phase 4
24
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
25
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
26 Antihypertensive Agents Phase 2, Phase 3,Early Phase 1
27 Dopamine Agents Phase 3,Phase 2,Phase 1
28 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Early Phase 1
29 Dihydroxyphenylalanine Phase 3,Phase 2,Phase 1
30
Exenatide Approved, Investigational Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 141758-74-9 15991534
31
Pancrelipase Approved, Investigational Phase 2,Not Applicable 53608-75-6
32
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
33 tannic acid Approved Phase 1, Phase 2
34 Gastrointestinal Agents Phase 2,Not Applicable,Early Phase 1
35 glucagon Phase 2,Phase 1,Not Applicable,Early Phase 1
36 Glucagon-Like Peptide 1 Phase 2,Phase 1,Not Applicable,Early Phase 1
37 Insulin, Globin Zinc Phase 1, Phase 2,Not Applicable,Early Phase 1
38 insulin Phase 1, Phase 2,Not Applicable,Early Phase 1
39 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
40 Pharmaceutical Solutions Phase 2,Early Phase 1
41 pancreatin Phase 2,Not Applicable
42 Plasma Substitutes Phase 1, Phase 2
43 Polygeline Phase 1, Phase 2
44 lysine Phase 1, Phase 2
45 Radiopharmaceuticals Phase 1, Phase 2
46 Blood Substitutes Phase 1, Phase 2
47 Immunologic Factors Phase 1, Phase 2,Early Phase 1
48
Lactitol Investigational Phase 1 585-86-4 3871
49
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
50
Phentolamine Approved Early Phase 1 50-60-2 5775

Interventional clinical trials:

(show all 42)
# 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 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
8 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
9 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
10 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
11 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
12 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Completed NCT00674440 Phase 2 F-DOPA
13 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
14 Efficacy, Tolerability and Pharmacokinetics of Subcutaneous Exendin (9-39) in Patients With Post Bariatric Hypoglycemia Completed NCT02771574 Phase 2 Exendin (9-39)
15 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
16 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Recruiting NCT02685852 Phase 2 Exenatide;Acarbose;Placebo
17 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, Phase 2 exendin-(9-39)
18 68Ga-NODAGA-exendin-4 PET/CT for Diagnostic Imaging in AHH Enrolling by invitation NCT03189953 Phase 1, Phase 2
19 Glucagon Ready to Use (RTU) in Subjects With Hyperinsulinemic Hypoglycemia After Bariatric Surgery Not yet recruiting NCT03770637 Phase 2 Glucagon RTU
20 Pasireotide in Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
21 Sirolimus for the Treatment of Hyperinsulinism Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
22 Evaluation of Single Ascending Doses of Subcutaneous Exendin 9-39 in Patients With Post-Bariatric Hypoglycemia Unknown status NCT02996812 Phase 1 Exendin (9-39)
23 Role of GLP-1 in Hyperinsulinemic Hypoglycemia Post-bariatric Surgery Unknown status NCT02550145 Phase 1 Exendin (9-39)
24 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
25 Fluorodopa F 18 in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
26 GLP1R-imaging in Hypoglycemia Recruiting NCT03182192 Phase 1
27 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
28 Etiology, Assessment and Treatment of Post-gastric Bypass Severe Hypoglycemia Unknown status NCT01865760 Not Applicable Octreotide;Synthetic Exendin 9-39
29 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
30 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
31 Post-Gastric Bypass Hypoglycemia Completed NCT01933490 Not Applicable
32 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541 Not Applicable
33 Understanding Hypoglycaemia After Bariatric Surgery Completed NCT03609632 Not Applicable
34 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Completed NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
35 Adrenergic System in Islet Transplantation Recruiting NCT03079921 Early Phase 1 Phentolamine;Propranolol;Placebo
36 GLP-1 Receptor Expression in CHI Recruiting NCT03768518
37 Bionic Pancreas in Children With Hyperinsulinism and Post-Pancreatectomy Diabetes Recruiting NCT03303196 Not Applicable
38 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
39 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
40 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
41 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
42 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Enrolling by invitation NCT03797222 Not Applicable

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 29 KCNJ11
2 Hyperinsulinemic Hypoglycemia 29
Sources

Anatomical Context for Hyperinsulinemic Hypoglycemia

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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

41
Pancreas, Pancreatic Islet, Kidney, Liver, Thyroid, Pineal, Small Intestine
Sources

Publications for Hyperinsulinemic Hypoglycemia

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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50) (show all 331)
# Title Authors Year
1
Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome. ( 29601900 )
2018
2
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis. ( 29958183 )
2018
3
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant. ( 29531722 )
2018
4
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy. ( 29355723 )
2018
5
68Ga DOTA-Exendin PET/CT for Detection of Insulinoma in a Patient With Persistent Hyperinsulinemic Hypoglycemia. ( 29877881 )
2018
6
Hyperinsulinemic hypoglycemia without insulinoma: Think of activating glucokinase mutation. ( 29555163 )
2018
7
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
8
Resolution of hyperinsulinemic hypoglycemia following partial pancreatectomy in a dog with nesidioblastosis. ( 30211650 )
2018
9
Evidence of unrestrained beta-cell proliferation and neogenesis in a patient with hyperinsulinemic hypoglycemia after gastric bypass surgery. ( 30311843 )
2018
10
Glucagon-like peptide 1 (GLP-1) drives postprandial hyperinsulinemic hypoglycemia in pregnant women with a history of roux-en-Y gastric bypass operation. ( 30448278 )
2018
11
Sirolimus-Induced Hepatitis in Two Cases with Hyperinsulinemic Hypoglycemia. ( 29217498 )
2017
12
Portosystemic shunt as a cause of congenital hyperinsulinemic hypoglycemia. ( 28401743 )
2017
13
ASMBS Position Statement on Postprandial Hyperinsulinemic Hypoglycemia after Bariatric Surgery. ( 28110984 )
2017
14
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia: RETRACTED. ( 28288081 )
2017
15
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. ( 29087246 )
2017
16
Is testing for postprandial hyperinsulinemic hypoglycemia after gastric bypass necessary? ( 29208421 )
2017
17
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. ( 28102591 )
2017
18
"Riding High on Low Fuel" - Our Experience with Endogenous Hyperinsulinemic Hypoglycemia. ( 28989869 )
2017
19
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28693122 )
2017
20
Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia. ( 28458896 )
2017
21
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28672750 )
2017
22
Hyperinsulinemic hypoglycemia after gastric bypass surgery: what's up and what's down? ( 29087389 )
2017
23
Selective Arterial Calcium Stimulation with Hepatic Venous Sampling in Patients with Recurrent Endogenous Hyperinsulinemic Hypoglycemia and Metastatic Insulinoma: Evaluation in Five Patients. ( 29157479 )
2017
24
Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia. ( 28715810 )
2017
25
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. ( 28373276 )
2017
26
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. ( 28656511 )
2017
27
One-Anastomosis Jejunal Interposition with Gastric Remnant Resection (Branco-Zorron Switch) for Severe Recurrent Hyperinsulinemic Hypoglycemia after Gastric Bypass for Morbid Obesity. ( 27738969 )
2016
28
Safety and tolerability of diazoxide in Japanese patients with hyperinsulinemic hypoglycemia. ( 26598136 )
2016
29
Postprandial hyperinsulinemic hypoglycemia after Roux-en-Y gastric bypass: an update. ( 27865808 )
2016
30
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms. ( 27065949 )
2016
31
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia. ( 26882312 )
2016
32
Hyperinsulinemic Hypoglycemia after Bariatric Surgery: Diagnosis and Management Experience from a Spanish Multicenter Registry. ( 26901345 )
2016
33
Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey. ( 27181376 )
2016
34
Incidence and Predictive Factors of Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y Gastric Bypass: A Five year Longitudinal Study. ( 27560624 )
2016
35
Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings. ( 27771675 )
2016
36
Single incision laparoscopic 90A % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
37
Hyperinsulinemic hypoglycemia associated with insulin antibodies caused by exogenous insulin analog. ( 27933175 )
2016
38
Assessment of Nifedipine therapy in Hyperinsulinemic Hypoglycemia due to mutations in the ABCC8 gene. ( 27898257 )
2016
39
Synchronous Nesidioblastosis, Endocrine Microadenoma, and Intraductal Papillary Mucinous Neoplasia in a Man Presenting With Hyperinsulinemic Hypoglycemia. ( 26658039 )
2016
40
Experience of Octreotide Therapy for Hyperinsulinemic Hypoglycemia in Neonates Born Small for Gestational Age: A Case Series. ( 26448570 )
2015
41
Clinical features and causes of endogenous hyperinsulinemic hypoglycemia in Korea. ( 25922806 )
2015
42
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. ( 26316438 )
2015
43
Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene. ( 25781533 )
2015
44
Hyperinsulinemic Hypoglycemia in Infancy: Current Concepts in Diagnosis and Management. ( 26713990 )
2015
45
Hyperinsulinemic hypoglycemia syndrome associated with mutations in the human insulin receptor gene: Report of two cases. ( 25753915 )
2015
46
Recognition and management of hyperinsulinemic hypoglycemia after bariatric surgery. ( 26522879 )
2015
47
Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy. ( 26331229 )
2015
48
Persistent hyperinsulinemic hypoglycemia of infancy: a clinical and pathological study of 19 cases in a single institution. ( 26823758 )
2015
49
Hyperinsulinemic Hypoglycemia. ( 26210630 )
2015
50
A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome. ( 25712828 )
2015
Sources

Variations for Hyperinsulinemic Hypoglycemia

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ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia:

6 (show top 50) (show all 107)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh38 Chromosome 11, 17387331: 17387331
2 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh37 Chromosome 11, 17409199: 17409199
3 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh38 Chromosome 11, 17387652: 17387652
4 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh37 Chromosome 11, 17409603: 17409603
5 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh38 Chromosome 11, 17388056: 17388056
6 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
7 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh38 Chromosome 11, 17388225: 17388225
8 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
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 KCNJ11, GLY156ARG undetermined variant Pathogenic
16 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh37 Chromosome 11, 17408795: 17408795
17 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh38 Chromosome 11, 17387248: 17387248
18 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh37 Chromosome 11, 17408496: 17408496
19 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh38 Chromosome 11, 17386949: 17386949
20 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh37 Chromosome 11, 17408630: 17408630
21 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh38 Chromosome 11, 17387083: 17387083
22 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh37 Chromosome 11, 17408831: 17408831
23 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh38 Chromosome 11, 17387284: 17387284
24 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh37 Chromosome 11, 17408838: 17408838
25 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh38 Chromosome 11, 17387291: 17387291
26 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh37 Chromosome 11, 17409055: 17409055
27 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh38 Chromosome 11, 17387508: 17387508
28 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh37 Chromosome 11, 17409069: 17409069
29 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh38 Chromosome 11, 17387522: 17387522
30 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh37 Chromosome 11, 17409176: 17409176
31 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh38 Chromosome 11, 17387629: 17387629
32 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh37 Chromosome 11, 17409478: 17409478
33 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh38 Chromosome 11, 17387931: 17387931
34 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs797045636 GRCh38 Chromosome 11, 17386949: 17386954
35 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs797045636 GRCh37 Chromosome 11, 17408496: 17408501
36 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
37 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh37 Chromosome 11, 17408758: 17408758
38 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
39 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
40 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) 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 GRCh38 Chromosome 11, 17387226: 17387226
42 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh38 Chromosome 11, 17388013: 17388013
43 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
44 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh38 Chromosome 11, 17387938: 17387938
45 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh37 Chromosome 11, 17409485: 17409485
46 KCNJ11 NM_000525.3(KCNJ11): c.80G> A (p.Arg27His) single nucleotide variant Uncertain significance rs774714794 GRCh37 Chromosome 11, 17409559: 17409559
47 KCNJ11 NM_000525.3(KCNJ11): c.80G> A (p.Arg27His) single nucleotide variant Uncertain significance rs774714794 GRCh38 Chromosome 11, 17388012: 17388012
48 KCNJ11 NM_000525.3(KCNJ11): c.1093C> T (p.Arg365Cys) single nucleotide variant Uncertain significance rs758749160 GRCh37 Chromosome 11, 17408546: 17408546
49 KCNJ11 NM_000525.3(KCNJ11): c.1093C> T (p.Arg365Cys) single nucleotide variant Uncertain significance rs758749160 GRCh38 Chromosome 11, 17386999: 17386999
50 KCNJ11 NM_000525.3(KCNJ11): c.868G> A (p.Val290Met) single nucleotide variant Likely pathogenic rs750414160 GRCh37 Chromosome 11, 17408771: 17408771
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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 37
Show member pathways
 12.38 ABCC8 GCK INS KCNJ11
2
MAPK signaling pathway 37 1
12.34 GCK IGF2 INS INSR
3
Glucose / Energy Metabolism 4
12.05 GLUD1 HNF4A INS INSR
4
Integration of energy metabolism 66
Show member pathways
 12.01 ABCC8 INS KCNJ11
5
Hepatic ABC Transporters 64
Show member pathways
 11.55 GCK HNF4A INS INSR
6
Regulation of beta-cell development 66
Show member pathways
 11.5 GCK HNF4A INS
7
Type II diabetes mellitus 37 1
Show member pathways
 11.42 ABCC8 GCK HNF4A INS INSR KCNJ11
8
Aldosterone-regulated sodium reabsorption 37
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 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 ABCC8 KCNJ11
5 insulin-like growth factor receptor binding GO:0005159 8.8 IGF2 INS INSR
Sources

Sources for Hyperinsulinemic Hypoglycemia

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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
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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