MCID: HYP050
MIFTS: 55

Hyperinsulinemic Hypoglycemia

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

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:



External Ids:

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

Summaries for Hyperinsulinemic Hypoglycemia

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 Octreotide have been mentioned in the context of this disorder. Affiliated tissues include pancreas, pancreatic islet and brain, 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...

Related Diseases for Hyperinsulinemic Hypoglycemia

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 151)
# 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 beckwith-wiedemann syndrome 29.9 ABCC8 IGF2 INS
12 maturity-onset diabetes of the young 29.8 ABCC8 GCK HNF4A INS KCNJ11
13 zollinger-ellison syndrome 29.8 MEN1 SST
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 28.3 ABCC8 GCK GLUD1 HADH HNF4A INS
21 hyperinsulinemic hypoglycemia, familial, 1 12.9
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 11.2
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 morbid obesity 10.2
46 diarrhea 10.2
47 donohue syndrome 10.2 INS INSR
48 acute insulin response 10.1 ABCC8 INS KCNJ11
49 maturity-onset diabetes of the young, type 4 10.1 GCK HNF4A
50 spinocerebellar degeneration 10.1 GLUD1 SST

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



Diseases related to Hyperinsulinemic Hypoglycemia

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia

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

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 83150-76-9 6400441 383414
3
lanreotide Approved Phase 4 108736-35-2
4
Liraglutide Approved Phase 4 204656-20-2 44147092
5
Verapamil Approved Phase 4 52-53-9 2520
6
Acarbose Approved, Investigational Phase 4,Phase 2 56180-94-0 441184
7
Pasireotide Approved Phase 4,Phase 2,Phase 1 396091-73-9 9941444
8
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
9 Hormones Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
10 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
11 Angiopeptin Phase 4
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable,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 Vasodilator Agents Phase 4,Phase 2,Phase 3,Early Phase 1
16 Cardiac Glycosides Phase 4,Phase 2
17 Calcium, Dietary Phase 4
18 Sitagliptin Phosphate Phase 4
19 Dipeptidyl-Peptidase IV Inhibitors Phase 4
20 Anti-Arrhythmia Agents Phase 4,Early Phase 1
21 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
22
protease inhibitors Phase 4
23 calcium channel blockers Phase 4
24 HIV Protease Inhibitors 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
tannic acid Approved Phase 1, Phase 2 1401-55-4
36
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
37 Gastrointestinal Agents Phase 2,Not Applicable,Early Phase 1
38 Insulin, Globin Zinc Phase 1, Phase 2,Not Applicable,Early Phase 1
39 insulin Phase 1, Phase 2,Not Applicable,Early Phase 1
40 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
41 Anti-Obesity Agents Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
42 Pharmaceutical Solutions Phase 2,Early Phase 1
43 pancreatin Phase 2,Not Applicable
44 Plasma Substitutes Phase 1, Phase 2
45 Radiopharmaceuticals Phase 1, Phase 2
46 lysine 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 1 585-86-4, 585-88-6 493591

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 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222 Not Applicable
40 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
41 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
42 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia

Cochrane evidence based reviews: nesidioblastosis

Genetic Tests for Hyperinsulinemic Hypoglycemia

Genetic tests related to Hyperinsulinemic Hypoglycemia:

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

Anatomical Context for Hyperinsulinemic Hypoglycemia

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

42
Pancreas, Pancreatic Islet, Brain, Testes, Kidney, Liver, Spleen

Publications for Hyperinsulinemic Hypoglycemia

Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50) (show all 338)
# Title Authors Year
1
Hyperinsulinemic hypoglycemia subtype glucokinase V91L mutant induces necrosis in β-cells via ATP depletion. ( 30623114 )
2019
2
Hyperinsulinemic Hypoglycemia in a Neonate. ( 30692138 )
2019
3
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. ( 30719864 )
2019
4
Letters about Published Papers Letters of comment about recently published papers should be sent by email to: bgoldspiel@verizon.net. ( 30760166 )
2019
5
A novel treatment of hyperinsulinemic hypoglycemia induced by insulin antibodies with alkali administration: a case report. ( 30853027 )
2019
6
Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study. ( 30882046 )
2019
7
Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome. ( 29601900 )
2018
8
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis. ( 29958183 )
2018
9
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant. ( 29531722 )
2018
10
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy. ( 29355723 )
2018
11
68Ga DOTA-Exendin PET/CT for Detection of Insulinoma in a Patient With Persistent Hyperinsulinemic Hypoglycemia. ( 29877881 )
2018
12
Hyperinsulinemic hypoglycemia without insulinoma: Think of activating glucokinase mutation. ( 29555163 )
2018
13
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
14
Resolution of hyperinsulinemic hypoglycemia following partial pancreatectomy in a dog with nesidioblastosis. ( 30211650 )
2018
15
Evidence of unrestrained beta-cell proliferation and neogenesis in a patient with hyperinsulinemic hypoglycemia after gastric bypass surgery. ( 30311843 )
2018
16
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
17
A case of hyperinsulinemic hypoglycemia related with a calcimimetic agent. ( 30603367 )
2018
18
Sirolimus-Induced Hepatitis in Two Cases with Hyperinsulinemic Hypoglycemia. ( 29217498 )
2017
19
Portosystemic shunt as a cause of congenital hyperinsulinemic hypoglycemia. ( 28401743 )
2017
20
ASMBS Position Statement on Postprandial Hyperinsulinemic Hypoglycemia after Bariatric Surgery. ( 28110984 )
2017
21
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia: RETRACTED. ( 28288081 )
2017
22
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. ( 29087246 )
2017
23
Is testing for postprandial hyperinsulinemic hypoglycemia after gastric bypass necessary? ( 29208421 )
2017
24
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. ( 28102591 )
2017
25
"Riding High on Low Fuel" - Our Experience with Endogenous Hyperinsulinemic Hypoglycemia. ( 28989869 )
2017
26
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28693122 )
2017
27
Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia. ( 28458896 )
2017
28
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28672750 )
2017
29
Hyperinsulinemic hypoglycemia after gastric bypass surgery: what's up and what's down? ( 29087389 )
2017
30
Selective Arterial Calcium Stimulation with Hepatic Venous Sampling in Patients with Recurrent Endogenous Hyperinsulinemic Hypoglycemia and Metastatic Insulinoma: Evaluation in Five Patients. ( 29157479 )
2017
31
Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia. ( 28715810 )
2017
32
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. ( 28373276 )
2017
33
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. ( 28656511 )
2017
34
One-Anastomosis Jejunal Interposition with Gastric Remnant Resection (Branco-Zorron Switch) for Severe Recurrent Hyperinsulinemic Hypoglycemia after Gastric Bypass for Morbid Obesity. ( 27738969 )
2016
35
Safety and tolerability of diazoxide in Japanese patients with hyperinsulinemic hypoglycemia. ( 26598136 )
2016
36
Postprandial hyperinsulinemic hypoglycemia after Roux-en-Y gastric bypass: an update. ( 27865808 )
2016
37
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms. ( 27065949 )
2016
38
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia. ( 26882312 )
2016
39
Hyperinsulinemic Hypoglycemia after Bariatric Surgery: Diagnosis and Management Experience from a Spanish Multicenter Registry. ( 26901345 )
2016
40
Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey. ( 27181376 )
2016
41
Incidence and Predictive Factors of Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y Gastric Bypass: A Five year Longitudinal Study. ( 27560624 )
2016
42
Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings. ( 27771675 )
2016
43
Single incision laparoscopic 90A % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
44
Hyperinsulinemic hypoglycemia associated with insulin antibodies caused by exogenous insulin analog. ( 27933175 )
2016
45
Assessment of Nifedipine therapy in Hyperinsulinemic Hypoglycemia due to mutations in the ABCC8 gene. ( 27898257 )
2016
46
Synchronous Nesidioblastosis, Endocrine Microadenoma, and Intraductal Papillary Mucinous Neoplasia in a Man Presenting With Hyperinsulinemic Hypoglycemia. ( 26658039 )
2016
47
Experience of Octreotide Therapy for Hyperinsulinemic Hypoglycemia in Neonates Born Small for Gestational Age: A Case Series. ( 26448570 )
2015
48
Clinical features and causes of endogenous hyperinsulinemic hypoglycemia in Korea. ( 25922806 )
2015
49
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. ( 26316438 )
2015
50
Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene. ( 25781533 )
2015

Variations for Hyperinsulinemic Hypoglycemia

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia:

6 (show top 50) (show all 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh37 Chromosome 11, 17408496: 17408496
2 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh38 Chromosome 11, 17386949: 17386949
3 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh37 Chromosome 11, 17408630: 17408630
4 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh38 Chromosome 11, 17387083: 17387083
5 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh37 Chromosome 11, 17408831: 17408831
6 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh38 Chromosome 11, 17387284: 17387284
7 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh37 Chromosome 11, 17408838: 17408838
8 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh38 Chromosome 11, 17387291: 17387291
9 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh37 Chromosome 11, 17409055: 17409055
10 KCNJ11 NM_000525.3(KCNJ11): c.584G> A (p.Arg195His) single nucleotide variant Conflicting interpretations of pathogenicity rs5217 GRCh38 Chromosome 11, 17387508: 17387508
11 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh37 Chromosome 11, 17409069: 17409069
12 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh38 Chromosome 11, 17387522: 17387522
13 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh37 Chromosome 11, 17409176: 17409176
14 KCNJ11 NM_000525.3(KCNJ11): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs587783668 GRCh38 Chromosome 11, 17387629: 17387629
15 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh37 Chromosome 11, 17409478: 17409478
16 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh38 Chromosome 11, 17387931: 17387931
17 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs1440128889 GRCh38 Chromosome 11, 17386949: 17386954
18 KCNJ11 NM_000525.3(KCNJ11): c.1138_1143dup (p.Lys381_Phe382insProLys) duplication Uncertain significance rs1440128889 GRCh37 Chromosome 11, 17408496: 17408501
19 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
20 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic/Likely pathogenic rs780957825 GRCh37 Chromosome 11, 17408758: 17408758
21 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
22 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
23 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
24 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
25 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh38 Chromosome 11, 17388013: 17388013
26 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
27 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh37 Chromosome 11, 17409199: 17409199
28 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh38 Chromosome 11, 17387652: 17387652
29 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh38 Chromosome 11, 17387316: 17387316
30 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh37 Chromosome 11, 17409603: 17409603
31 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh38 Chromosome 11, 17388056: 17388056
32 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
33 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh38 Chromosome 11, 17388225: 17388225
34 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
35 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh38 Chromosome 11, 17387331: 17387331
36 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh37 Chromosome 11, 17408863: 17408863
37 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
38 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh38 Chromosome 11, 17388025: 17388025
39 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
40 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Likely pathogenic rs74339576 GRCh38 Chromosome 11, 17387190: 17387190
41 KCNJ11 NM_000525.3(KCNJ11): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17409173: 17409173
42 KCNJ11 NM_000525.3(KCNJ11): c.466G> A (p.Gly156Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 17387626: 17387626
43 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh37 Chromosome 11, 17408795: 17408795
44 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh38 Chromosome 11, 17387248: 17387248
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

Expression for Hyperinsulinemic Hypoglycemia

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia.

Pathways for Hyperinsulinemic Hypoglycemia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 ABCC8 GCK INS KCNJ11
2 12.34 GCK IGF2 INS INSR
3 12.05 GLUD1 HNF4A INS INSR
4
Show member pathways
12.01 ABCC8 INS KCNJ11
5
Show member pathways
11.55 GCK HNF4A INS INSR
6
Show member pathways
11.5 GCK HNF4A INS
7
Show member pathways
11.42 ABCC8 GCK HNF4A INS INSR KCNJ11
8 11.02 INS INSR
9 10.9 INS INSR
10 10.74 ABCC8 GCK HADH HNF4A INS KCNJ11

GO Terms for Hyperinsulinemic Hypoglycemia

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 for Hyperinsulinemic Hypoglycemia

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
Content
Loading form....