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MCID: HYP050
MIFTS: 54

Hyperinsulinemic Hypoglycemia

Categories: Metabolic diseases, Genetic diseases, Rare diseases, Endocrine 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
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
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, 2 and insulin autoimmune syndrome. 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 AMP-activated Protein Kinase (AMPK) Signaling. The drugs lanreotide 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 : 76 Hyperinsulinemic hypoglycemia describes the condition and effects of low blood glucose caused by... more...

Sources

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 101)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 2 31.7 ABCC8 HNF4A INS KCNJ11 SST
2 insulin autoimmune syndrome 30.0 INS INSR
3 fetal macrosomia 29.7 INS INSR
4 glucose intolerance 29.3 GCK INS INSR
5 dumping syndrome 29.1 INS SST
6 insulinoma 28.9 ABCC8 GCK INS SST
7 maturity-onset diabetes of the young 28.5 ABCC8 GCK HNF4A INS KCNJ11
8 gestational diabetes 27.9 GCK HNF4A INS INSR KCNJ11
9 hypoglycemia 27.9 ABCC8 GCK GLUD1 HADH INS INSR
10 diabetes mellitus 26.2 ABCC8 GCK HNF4A INS INSR KCNJ11
11 hyperinsulinism 24.8 ABCC8 GCK GLUD1 HADH HNF4A INS
12 hyperinsulinemic hypoglycemia, familial, 1 12.7
13 hyperinsulinemic hypoglycemia, familial, 7 12.7
14 hyperinsulinemic hypoglycemia, familial, 5 12.7
15 hyperinsulinemic hypoglycemia, familial, 3 12.6
16 hyperinsulinemic hypoglycemia, familial, 4 12.6
17 hyperinsulinemic hypoglycemia, familial, 6 12.5
18 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 12.1
19 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.2
20 hyperinsulinism due to hnf4a deficiency 11.1
21 hyperinsulinism due to ucp2 deficiency 11.1
22 hyperinsulinism due to hnf1a deficiency 11.1
23 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.1
24 insulinomatosis and diabetes mellitus 11.1
25 microcephaly, short stature, and impaired glucose metabolism 1 11.1
26 cardiomyopathy, dilated, 1o 10.6 ABCC8 KCNJ11
27 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.6 ABCC8 KCNJ11
28 usher syndrome, type ic 10.5 ABCC8 KCNJ11
29 pancreatitis 10.5
30 cantu syndrome 10.5 ABCC8 KCNJ11
31 asphyxia neonatorum 10.3 ABCC8 SLC16A1
32 fasting hypoglycemia 10.3 GLUD1 INSR
33 munchausen by proxy 10.3 ABCC8 GCK KCNJ11
34 fanconi-bickel syndrome 10.2 ABCC8 INS
35 maturity-onset diabetes of the young, type 2 10.2 GCK INS
36 hepatitis 10.1
37 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.1 INS INSR
38 sotos syndrome 1 10.0
39 beckwith-wiedemann syndrome 10.0
40 costello syndrome 10.0
41 gastrointestinal stromal tumor 10.0
42 morbid obesity 10.0
43 esophagitis 10.0
44 donohue syndrome 10.0 INS INSR
45 acute insulin response 9.9 ABCC8 INS KCNJ11
46 carbohydrate metabolic disorder 9.9 ABCC8 INS
47 diabetes mellitus, transient neonatal, 1 9.9 ABCC8 INS KCNJ11
48 kabuki syndrome 1 9.9
49 charge syndrome 9.9
50 neuroblastoma 9.9

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 9.81 INS INSR KCNJ11 SLC16A1 GCK SST
2 endocrine/exocrine gland MP:0005379 9.8 INS INSR KCNJ11 ABCC8 GCK GLUD1
3 adipose tissue MP:0005375 9.72 INS INSR KCNJ11 SLC16A1 HADH
4 homeostasis/metabolism MP:0005376 9.65 INS INSR KCNJ11 ABCC8 SLC16A1 GCK
5 liver/biliary system MP:0005370 9.02 INS INSR SLC16A1 GCK HNF4A
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 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 lanreotide Approved Phase 4 108736-35-2
2
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 83150-76-9 383414 6400441
3
Somatostatin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 38916-34-6, 51110-01-1 53481605
4
Acarbose Approved, Investigational Phase 4,Phase 2 56180-94-0 441184
5
Liraglutide Approved Phase 4 204656-20-2 44147092
6
Verapamil Approved Phase 4 52-53-9 2520
7 Angiopeptin Phase 4
8 Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
9 Hormones Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
11 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
12 Incretins Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
13 Vasodilator Agents Phase 4,Phase 2,Phase 3,Not Applicable
14 Anti-Arrhythmia Agents Phase 4,Not Applicable,Early Phase 1
15 calcium channel blockers Phase 4
16 Calcium, Dietary Phase 4
17 Cardiac Glycosides Phase 4,Phase 2
18 Dipeptidyl-Peptidase IV Inhibitors Phase 4
19 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
20 HIV Protease Inhibitors Phase 4
21
protease inhibitors Phase 4
22 Sitagliptin Phosphate Phase 4
23
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
24
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
25 Antihypertensive Agents Phase 2, Phase 3,Not Applicable
26 Dihydroxyphenylalanine Phase 3,Phase 2,Phase 1
27 Dopamine Agents Phase 3,Phase 2,Phase 1
28 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29
Exenatide Approved, Investigational Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 141758-74-9 15991534
30
Pancrelipase Approved, Investigational Phase 2,Not Applicable 53608-75-6
31
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
32 tannic acid Approved, Nutraceutical Phase 1, Phase 2
33 glucagon Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1
34 Glucagon-Like Peptide 1 Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1
35 insulin Phase 1, Phase 2,Not Applicable,Early Phase 1
36 Insulin, Globin Zinc Phase 1, Phase 2,Not Applicable,Early Phase 1
37 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
38 Gastrointestinal Agents Phase 2,Not Applicable,Early Phase 1
39 pancreatin Phase 2,Not Applicable
40 Blood Substitutes Phase 1, Phase 2
41 Plasma Substitutes Phase 1, Phase 2
42 Polygeline Phase 1, Phase 2
43 Radiopharmaceuticals Phase 1, Phase 2
44 Pharmaceutical Solutions Phase 2,Not Applicable
45 lysine Nutraceutical Phase 1, Phase 2
46
Lactitol Investigational Phase 1 585-86-4 3871
47
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
48
Phentolamine Approved Not Applicable 50-60-2 5775
49
Propranolol Approved, Investigational Not Applicable 525-66-6 4946
50
Atropine Approved, Vet_approved Early Phase 1 5908-99-6, 51-55-8 174174

Interventional clinical trials:

(show all 37)
# 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 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
6 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
7 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
8 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
9 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
10 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Completed NCT00674440 Phase 2 F-DOPA
11 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
12 Efficacy, Tolerability and Pharmacokinetics of Subcutaneous Exendin (9-39) in Patients With Post Bariatric Hypoglycemia Completed NCT02771574 Phase 2 Exendin (9-39)
13 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
14 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Recruiting NCT02685852 Phase 2 Exenatide;Acarbose;Placebo
15 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Recruiting NCT02937558 Phase 2 Glucagon
16 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, Phase 2 exendin-(9-39)
17 68Ga-NODAGA-exendin-4 PET/CT for Diagnostic Imaging in AHH Enrolling by invitation NCT03189953 Phase 1, Phase 2
18 Pasireotide in Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
19 Sirolimus for the Treatment of Hyperinsulinism Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
20 Role of GLP-1 in Hyperinsulinemic Hypoglycemia Post-bariatric Surgery Unknown status NCT02550145 Phase 1 Exendin (9-39)
21 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
22 Fluorodopa F 18 in Congenital Hyperinsulinism Recruiting NCT02021604 Phase 1 Fluorodopa F 18
23 GLP1R-imaging in Hypoglycemia Recruiting NCT03182192 Phase 1
24 Evaluation of Single Ascending Doses of Subcutaneous Exendin 9-39 in Patients With Post-Bariatric Hypoglycemia Active, not recruiting NCT02996812 Phase 1 Exendin (9-39)
25 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
26 Etiology, Assessment and Treatment of Post-gastric Bypass Severe Hypoglycemia Unknown status NCT01865760 Not Applicable Octreotide;Synthetic Exendin 9-39
27 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
28 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
29 Post-Gastric Bypass Hypoglycemia Completed NCT01933490 Not Applicable
30 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541 Not Applicable
31 Adrenergic System in Islet Transplantation Recruiting NCT03079921 Not Applicable Phentolamine;Propranolol;Placebo
32 Bionic Pancreas in Children With Hyperinsulinism and Post-Pancreatectomy Diabetes Recruiting NCT03303196 Not Applicable
33 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
34 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Recruiting NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
35 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
36 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
37 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 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, Brain, B Cells, Testes, Liver, Kidney
Sources

Publications for Hyperinsulinemic Hypoglycemia

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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50) (show all 284)
# 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
Sirolimus-Induced Hepatitis in Two Cases with Hyperinsulinemic Hypoglycemia. ( 29217498 )
2017
8
Portosystemic shunt as a cause of congenital hyperinsulinemic hypoglycemia. ( 28401743 )
2017
9
ASMBS Position Statement on Postprandial Hyperinsulinemic Hypoglycemia after Bariatric Surgery. ( 28110984 )
2017
10
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia: RETRACTED. ( 28288081 )
2017
11
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. ( 29087246 )
2017
12
Is testing for postprandial hyperinsulinemic hypoglycemia after gastric bypass necessary? ( 29208421 )
2017
13
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. ( 28102591 )
2017
14
"Riding High on Low Fuel" - Our Experience with Endogenous Hyperinsulinemic Hypoglycemia. ( 28989869 )
2017
15
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28693122 )
2017
16
Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia. ( 28458896 )
2017
17
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28672750 )
2017
18
Hyperinsulinemic hypoglycemia after gastric bypass surgery: what's up and what's down? ( 29087389 )
2017
19
Selective Arterial Calcium Stimulation with Hepatic Venous Sampling in Patients with Recurrent Endogenous Hyperinsulinemic Hypoglycemia and Metastatic Insulinoma: Evaluation in Five Patients. ( 29157479 )
2017
20
Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia. ( 28715810 )
2017
21
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. ( 28373276 )
2017
22
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. ( 28656511 )
2017
23
One-Anastomosis Jejunal Interposition with Gastric Remnant Resection (Branco-Zorron Switch) for Severe Recurrent Hyperinsulinemic Hypoglycemia after Gastric Bypass for Morbid Obesity. ( 27738969 )
2016
24
Safety and tolerability of diazoxide in Japanese patients with hyperinsulinemic hypoglycemia. ( 26598136 )
2016
25
Postprandial hyperinsulinemic hypoglycemia after Roux-en-Y gastric bypass: an update. ( 27865808 )
2016
26
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms. ( 27065949 )
2016
27
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia. ( 26882312 )
2016
28
Hyperinsulinemic Hypoglycemia after Bariatric Surgery: Diagnosis and Management Experience from a Spanish Multicenter Registry. ( 26901345 )
2016
29
Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey. ( 27181376 )
2016
30
Incidence and Predictive Factors of Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y Gastric Bypass: A Five year Longitudinal Study. ( 27560624 )
2016
31
Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings. ( 27771675 )
2016
32
Single incision laparoscopic 90A % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
33
Hyperinsulinemic hypoglycemia associated with insulin antibodies caused by exogenous insulin analog. ( 27933175 )
2016
34
Assessment of Nifedipine therapy in Hyperinsulinemic Hypoglycemia due to mutations in the ABCC8 gene. ( 27898257 )
2016
35
Synchronous Nesidioblastosis, Endocrine Microadenoma, and Intraductal Papillary Mucinous Neoplasia in a Man Presenting With Hyperinsulinemic Hypoglycemia. ( 26658039 )
2016
36
Experience of Octreotide Therapy for Hyperinsulinemic Hypoglycemia in Neonates Born Small for Gestational Age: A Case Series. ( 26448570 )
2015
37
Clinical features and causes of endogenous hyperinsulinemic hypoglycemia in Korea. ( 25922806 )
2015
38
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. ( 26316438 )
2015
39
Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene. ( 25781533 )
2015
40
Hyperinsulinemic Hypoglycemia in Infancy: Current Concepts in Diagnosis and Management. ( 26713990 )
2015
41
Hyperinsulinemic hypoglycemia syndrome associated with mutations in the human insulin receptor gene: Report of two cases. ( 25753915 )
2015
42
Recognition and management of hyperinsulinemic hypoglycemia after bariatric surgery. ( 26522879 )
2015
43
Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy. ( 26331229 )
2015
44
Persistent hyperinsulinemic hypoglycemia of infancy: a clinical and pathological study of 19 cases in a single institution. ( 26823758 )
2015
45
Hyperinsulinemic Hypoglycemia. ( 26210630 )
2015
46
A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome. ( 25712828 )
2015
47
Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation. ( 26487424 )
2015
48
Pathological aspects underlying pancreatogenous hyperinsulinemic hypoglycemia - report of three cases. ( 25826512 )
2015
49
Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients. ( 25871929 )
2015
50
Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia. ( 25972930 )
2015
Sources

Variations for Hyperinsulinemic Hypoglycemia

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ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia:

6
(show all 43)
# 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 Pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
14 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant 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.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh37 Chromosome 11, 17409069: 17409069
27 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh38 Chromosome 11, 17387522: 17387522
28 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh37 Chromosome 11, 17409478: 17409478
29 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh38 Chromosome 11, 17387931: 17387931
30 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
31 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic rs780957825 GRCh37 Chromosome 11, 17408758: 17408758
32 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
33 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
34 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
35 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
36 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Likely pathogenic rs752507753 GRCh38 Chromosome 11, 17388013: 17388013
37 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Likely pathogenic rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
38 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh38 Chromosome 11, 17387938: 17387938
39 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh37 Chromosome 11, 17409485: 17409485
40 KCNJ11 NM_000525.3(KCNJ11): c.868G> A (p.Val290Met) single nucleotide variant Likely pathogenic rs750414160 GRCh38 Chromosome 11, 17387224: 17387224
41 KCNJ11 NM_000525.3(KCNJ11): c.868G> A (p.Val290Met) single nucleotide variant Likely pathogenic rs750414160 GRCh37 Chromosome 11, 17408771: 17408771
42 KCNJ11 NM_000525.3(KCNJ11): c.406C> T (p.Arg136Cys) single nucleotide variant Pathogenic rs766891274 GRCh38 Chromosome 11, 17387686: 17387686
43 KCNJ11 NM_000525.3(KCNJ11): c.406C> T (p.Arg136Cys) single nucleotide variant Pathogenic rs766891274 GRCh37 Chromosome 11, 17409233: 17409233
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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:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Aldosterone synthesis and secretion 37
Show member pathways
 12.66 ABCC8 GCK INS KCNJ11
2
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.07 HNF4A INS INSR
3
Glucose / Energy Metabolism 4
12.05 GLUD1 HNF4A INS INSR
4
Integration of energy metabolism 66
Show member pathways
 11.94 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
Regulation of lipolysis in adipocytes 37
11.29 INS INSR
9
Development_Leptin signaling via PI3K-dependent pathway 22
11.26 ABCC8 KCNJ11
10
Signaling events mediated by PTP1B 1
11.24 INS INSR
11
Ovarian steroidogenesis 37
11.21 INS INSR
12
Insulin Pathway 1
11.14 INS INSR
13
Signaling events mediated by TCPTP 1
Show member pathways
 11.08 INS INSR
14
Aldosterone-regulated sodium reabsorption 37
11 INS INSR
15
Insulin-mediated glucose transport 1
10.83 INS INSR
16
FOXA2 and FOXA3 transcription factor networks 1
10.74 ABCC8 GCK HADH HNF4A INS KCNJ11
Sources

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 16)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.71 GCK INS INSR
2 response to drug GO:0042493 9.71 ABCC8 HADH KCNJ11 SST
3 positive regulation of insulin secretion GO:0032024 9.56 GCK GLUD1
4 positive regulation of DNA replication GO:0045740 9.55 INS INSR
5 activation of protein kinase B activity GO:0032148 9.52 INS INSR
6 positive regulation of glucose import GO:0046326 9.51 INS INSR
7 negative regulation of insulin secretion GO:0046676 9.49 HADH KCNJ11
8 positive regulation of mitotic nuclear division GO:0045840 9.48 INS INSR
9 positive regulation of glycolytic process GO:0045821 9.46 INS INSR
10 negative regulation of gluconeogenesis GO:0045721 9.43 GCK INS
11 glucose metabolic process GO:0006006 9.43 GCK INS KCNJ11
12 positive regulation of respiratory burst GO:0060267 9.37 INS INSR
13 glucose homeostasis GO:0042593 9.35 GCK HNF4A INS INSR SLC16A1
14 positive regulation of glycogen biosynthetic process GO:0045725 9.33 GCK INS INSR
15 neuron projection maintenance GO:1990535 9.32 INS INSR
16 regulation of insulin secretion GO:0050796 9.02 ABCC8 GCK HNF4A KCNJ11 SLC16A1

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.65 ABCC8 GCK GLUD1 INSR KCNJ11
2 insulin-like growth factor receptor binding GO:0005159 9.16 INS INSR
3 NAD+ binding GO:0070403 8.96 GLUD1 HADH
4 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 ABCC8 KCNJ11
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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