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MCID: HYP050
MIFTS: 55

Hyperinsulinemic Hypoglycemia

Categories: Blood diseases, Endocrine diseases, Fetal 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 17 71
Islet Cell Hyperplasia 12 29 6
Nesidioblastosis 12 43 71
Persistent Hyperinsulinemia Hypoglycemia of Infancy 12
Hyperinsulinemic Hypoglycaemia 58

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases Fetal diseases
Anatomical: Endocrine diseases Blood diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:13317
MeSH 43 D046768
NCIt 49 C4375
SNOMED-CT 67 42681006
ICD10 32 E16.9
Orphanet 58 ORPHA443095
UMLS 71 C0027773 C1864903
Sources

Summaries for Hyperinsulinemic Hypoglycemia

About this section
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, 1 and hyperinsulinemic hypoglycemia, familial, 6. An important gene associated with Hyperinsulinemic Hypoglycemia is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Glucose / Energy Metabolism. The drugs Acarbose and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include pancreas, pancreatic islet and testes, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 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 269)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 1 34.9 KCNJ11 H2AC18 ABCC8
2 hyperinsulinemic hypoglycemia, familial, 6 34.8 SLC16A1 HADH GLUD1 GCK ABCC8
3 hyperinsulinemic hypoglycemia, familial, 7 34.8 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
4 hyperinsulinemic hypoglycemia, familial, 3 34.5 H2AC18 GCK
5 hyperinsulinemic hypoglycemia, familial, 2 34.4 SST KCNJ11 INS HNF4A H2AC18 ABCC8
6 dumping syndrome 31.2 SST INS GCG
7 fasting hypoglycemia 31.1 INSR IGF2 GLUD1
8 fetal macrosomia 31.0 INSR INS IGF2
9 3-hydroxyacyl-coa dehydrogenase deficiency 31.0 HADH GLUD1 GCK
10 hypoglycemia 31.0 SST SLC16A1 KCNJ11 INSR INS IGF2
11 asphyxia neonatorum 30.7 SLC16A1 KCNJ11 INS HADH ABCC8
12 diabetes mellitus, permanent neonatal 1 30.6 PDX1 KCNJ11 INS GCK ABCC8
13 insulinoma 30.5 SST PDX1 MEN1 MAFA INS IGF2
14 glucose intolerance 30.5 KCNJ11 INSR INS GCK GCG ABCC8
15 donohue syndrome 30.4 INSR INS GCK
16 multiple endocrine neoplasia, type i 30.4 SST PDX1 MEN1 INS GCG
17 abdominal obesity-metabolic syndrome 1 30.4 INSR INS GCK GCG
18 islet cell tumor 30.4 SST MEN1 INS IGF2 GCG
19 gastrinoma 30.4 SST MEN1 INS
20 hypoglycemic coma 30.3 INS IGF2 GCG
21 neuroendocrine carcinoma 30.3 SST MEN1 GCG
22 hyperinsulinism 30.3 SST SLC16A1 KCNJ11 INSR INS IGF2
23 gastrointestinal stromal tumor 30.3 SST MEN1 IGF2 HNF4A
24 diabetes mellitus, permanent neonatal 4 30.2 PDX1 KCNJ11 INS GCKR GCK ABCC8
25 pancreatic cholera 30.2 SST MEN1 GCG
26 beckwith-wiedemann syndrome 30.2 MEN1 KCNJ11 INS IGF2 H2AC18 ABCC8
27 meckel diverticulum 30.2 SST GCG FOXA2
28 gestational diabetes 30.1 KCNJ11 INSR INS IGF2 HNF4A GCK
29 pancreatitis 30.0 SST PDX1 INS GCG
30 pancreas disease 30.0 SST INS H2AC18 GCG
31 hyperglycemia 29.9 SST PDX1 KCNJ11 INSR INS HNF4A
32 pituitary gland disease 29.7 SST MEN1 INS H2AC18 GCG
33 teratoma 29.5 SST INS GCG
34 neonatal diabetes mellitus 29.1 PDX1 KCNJ11 INS HNF4A H2AC18 GCKR
35 diabetes mellitus, type i 28.9 SST PDX1 INSR INS IGF2 HNF4A
36 maturity-onset diabetes of the young 28.7 SST PDX1 MAFA KCNJ11 INS HNF4A
37 diabetes mellitus 28.5 SST PMM2 PDX1 MEN1 MAFA KCNJ11
38 diabetes mellitus, noninsulin-dependent 28.2 SST PDX1 KCNJ11 INSR INS IGF2
39 hyperinsulinemic hypoglycemia, familial, 5 13.0
40 hyperinsulinemic hypoglycemia, familial, 4 13.0
41 insulinomatosis and diabetes mellitus 11.8
42 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.5
43 diazoxide-resistant diffuse hyperinsulinism 11.4
44 diazoxide-sensitive diffuse hyperinsulinism 11.4
45 hyperinsulinism due to hnf4a deficiency 11.4
46 diazoxide-resistant hyperinsulinism 11.4
47 hyperinsulinism due to ucp2 deficiency 11.4
48 hyperinsulinism due to hnf1a deficiency 11.4
49 diazoxide-resistant focal hyperinsulinism 11.4
50 microcephaly, short stature, and impaired glucose metabolism 1 11.4

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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GenomeRNAi Phenotypes related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.64 MEN1
2 Decreased viability GR00221-A-1 9.64 GCK GCKR INSR
3 Decreased viability GR00221-A-2 9.64 GCK INSR
4 Decreased viability GR00221-A-3 9.64 GCK INSR
5 Decreased viability GR00221-A-4 9.64 GCK GCKR INSR
6 Decreased viability GR00240-S-1 9.64 SST
7 Decreased viability GR00249-S 9.64 GCG HADH MAFA
8 Decreased viability GR00381-A-1 9.64 TRMT10A
9 Decreased viability GR00386-A-1 9.64 FOXA2 GCG HNF4A SLC16A1
10 Decreased viability GR00402-S-2 9.64 GLUD1

MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 FOXA2 GCK GLUD1 HADH HNF4A IGF2
2 homeostasis/metabolism MP:0005376 10.21 ABCC8 FOXA2 GCK GCKR GLUD1 HADH
3 endocrine/exocrine gland MP:0005379 10.15 ABCC8 FOXA2 GCK GLUD1 HADH IGF2
4 digestive/alimentary MP:0005381 10.01 FOXA2 IGF2 INS INSR MEN1 PDX1
5 liver/biliary system MP:0005370 9.9 FOXA2 GCK GCKR HNF4A IGF2 INS
6 no phenotypic analysis MP:0003012 9.5 ABCC8 IGF2 INS KCNJ11 MAFA PDX1
7 renal/urinary system MP:0005367 9.28 GCK HADH HNF4A IGF2 INS INSR
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 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
2
Liraglutide Approved Phase 4 204656-20-2 44147092
3
Verapamil Approved Phase 4 52-53-9 2520
4 Hypoglycemic Agents Phase 4
5 Cardiac Glycosides Phase 4
6 Glycoside Hydrolase Inhibitors Phase 4
7 Dipeptidyl-Peptidase IV Inhibitors Phase 4
8
protease inhibitors Phase 4
9 Vasodilator Agents Phase 4
10 HIV Protease Inhibitors Phase 4
11 Sitagliptin Phosphate Phase 4
12 Calcium, Dietary Phase 4
13 calcium channel blockers Phase 4
14
Calcium Nutraceutical Phase 4 7440-70-2 271
15 Antihypertensive Agents Phase 2, Phase 3
16
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
17
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
18
Diazoxide Approved Phase 2 364-98-7 3019
19
Pancrelipase Approved, Investigational Phase 2 53608-75-6
20
Exenatide Approved, Investigational Phase 1, Phase 2 141758-74-9 15991534
21 Neurotransmitter Agents Phase 2
22 Dihydroxyphenylalanine Phase 2
23 Dopamine Agents Phase 2
24 Gastrointestinal Agents Phase 2
25 pancreatin Phase 2
26 Glucagon-Like Peptide 1 Phase 1, Phase 2
27 Anti-Obesity Agents Phase 1, Phase 2
28
Lactitol Approved, Investigational Phase 1 585-88-6, 585-86-4 493591
29 Insulin, Globin Zinc Phase 1
30 insulin Phase 1
31
Insulin aspart Approved 116094-23-6 16132418
32
Glucagon Approved Early Phase 1 16941-32-5
33
Atropine Approved, Vet_approved Early Phase 1 51-55-8, 5908-99-6 174174
34
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
35
Somatostatin Approved, Investigational 38916-34-6, 51110-01-1 53481605
36
Cysteine Approved, Nutraceutical Early Phase 1 52-90-4 5862
37
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Early Phase 1 53-43-0 9860744
38
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
39
Trichostatin A Experimental 58880-19-6
40 Tocotrienol Investigational 6829-55-6
41 Adjuvants, Immunologic Early Phase 1
42 DHEA (Dehydroepiandrosterone) Early Phase 1
43 Antineoplastic Agents, Hormonal
44 Incretins Early Phase 1
45 Anti-Arrhythmia Agents Early Phase 1
46 Respiratory System Agents Early Phase 1
47 Anti-Asthmatic Agents Early Phase 1
48 Parasympatholytics Early Phase 1
49 Cholinergic Agents Early Phase 1
50 Muscarinic Antagonists Early Phase 1

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Treatment of Hypoglycemia Following Gastric Bypass Surgery Completed NCT02527993 Phase 4 Glucobay (acarbose);Januvia (sitagliptin);Verapamil HEXAL (verapamil);Victoza (liraglutide);Signifor (pasireotide)
2 Pasireotide in the Treatment of Hypoglycemia Following Gastric Bypass Surgery Enrolling by invitation NCT03514576 Phase 4 Pasireotide 0.3 MG/ML
3 Use for Diazoxide in the Initial Management of Hypoglycemia in Infants of Diabetic Mothers and Infants Large for Gestation Unknown status NCT00994149 Phase 2, Phase 3 Diazoxide;Ora-plus
4 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
5 A Phase 2, Interventional, Randomized, Double-Blind, Placebo-Controlled Pilot Study of Glucagon RTU in Subjects Who Experience Hyperinsulinemic Hypoglycemia After Bariatric Surgery Completed NCT03770637 Phase 2 Glucagon RTU
6 A Phase II Safety and Efficacy Study of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
7 A Phase 2 Multi-Ascending Dose Trial to Assess the Efficacy, Tolerability and Pharmacokinetic Profile of Exendin (9-39) in Patients With Post-bariatric Hyperinsulinemic Hypoglycemia Completed NCT02771574 Phase 2 Exendin (9-39)
8 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
9 Visualizing Beta Cells in Patients With T2D Before and After Bariatric Surgery Recruiting NCT03182231 Phase 1, Phase 2
10 68Ga-NODAGA-exendin-4 PET/CT in Patients With AHH - a Prospective Comparative Evaluation of Preoperative Imaging Enrolling by invitation NCT03189953 Phase 1, Phase 2
11 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
12 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
13 Subcutaneous Injection of Exendin (9-39) in Subjects With Hyperinsulinemic Hypoglycemia Post-Bariatric Surgery Unknown status NCT02996812 Phase 1 Exendin (9-39)
14 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
15 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
16 Visualizing Beta Cells in Patients With Hyperinsulinemic Hypoglycemia After Bariatric Surgery Recruiting NCT03182192 Phase 1
17 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
18 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
19 Hypoglycemia Associated Autonomic Failure in Type 1 DM, Question 3 Completed NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
20 Incidence of Medical and Nutritional Complications After Bariatric Surgery, Especially Focusing on Assessment and Treatment of Severe Hypoglycemia Completed NCT01865760 Octreotide
21 RANDOMIZED CLINICAL STUDY COMPARING THE EFFECT OF ROUX-en-Y GASTRIC BYPASS AND SLEEVE GASTRECTOMY ON REACTIVE HYPOGLYCEMIA Completed NCT01581801
22 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Recruiting NCT03930368
23 Hormonal and Neural Control of Insulin Secretion Following Gastric Bypass Surgery Recruiting NCT00992901 Early Phase 1 Exendin-(9-39);Atropine;GLP-1 and GIP
24 The Effect of Gastric Bypass Surgery on Glucose Metabolism, Gestational Weight Gain and Fetal Growth in Subsequent Pregnancy Recruiting NCT03713060
25 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Active, not recruiting NCT03797222
26 Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
27 Expanded Access Use of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
28 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With 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:

40
Pancreas, Pancreatic Islet, Testes, Liver, B Cells, Brain, Kidney
Sources

Publications for Hyperinsulinemic Hypoglycemia

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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50) (show all 1120)
# Title Authors PMID Year
1
A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia. 61
32336187 2020
2
Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism. 61
31777044 2020
3
Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinemic hypoglycemia. 61
32533869 2020
4
Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand. 61
32525229 2020
5
Pitfalls in the Detection of Insulinomas With Glucagon-Like Peptide-1 Receptor Imaging. 61
32558709 2020
6
Nationwide survey of endogenous hyperinsulinemic hypoglycemia in Japan (2017-2018): Congenital hyperinsulinism, insulinoma, non-insulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata's disease). 61
31742894 2020
7
Receptor-targeted photodynamic therapy of glucagon-like peptide 1 receptor positive lesions. 61
32385165 2020
8
Insulin Autoimmune Syndrome: A Case of Clopidogrel-induced Autoimmune Hypoglycemia. 61
32182368 2020
9
Laparoscopic Conversion of Roux-en-Y Gastric Bypass to Sleeve Gastrectomy for Postprandial Hyperinsulinemic Hypoglycemia. 61
31853867 2020
10
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management. 61
32185602 2020
11
Factory-calibrated continuous glucose monitoring and capillary blood glucose monitoring in a case with insulinoma: usefulness and possible pitfall under chronic hyperinsulinemic hypoglycemia. 61
31761874 2020
12
Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young-onset diabetes with exome sequencing. 61
31479591 2020
13
The effectiveness of Sirolimus treatment in two rare disorders with nonketotic hypoinsulinemic hypoglycemia: The role of mTOR pathway 61
32157856 2020
14
Nesidioblastosis and Insulinoma: A Rare Coexistence and a Therapeutic Challenge. 61
32047477 2020
15
Innovative imaging of insulinoma: the end of sampling? A review. 61
31951592 2020
16
A family in which people with a heterozygous ABCC8 gene mutation (p.Lys1385Gln) have progressed from hyperinsulinemic hypoglycemia to hyperglycemia. 61
31578783 2020
17
Insulin Autoimmune Syndrome (Hirata Disease): A Comprehensive Review Fifty Years After Its First Description. 61
32308449 2020
18
PET-Based Human Dosimetry of 68Ga-NODAGA-Exendin-4, a Tracer for β-Cell Imaging. 61
31519801 2020
19
Congenital hyperinsulinism associated with Hirschsprung's disease-a report of an extremely rare case. 61
31916119 2020
20
An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib. 61
32231455 2020
21
MODY diabetes and screening of gestational diabetes. 61
32527107 2020
22
Brunner's Gland Hyperplasia in a Patient after Roux-Y Gastric Bypass: An Important Pitfall in GLP-1 Receptor Imaging. 61
32313706 2020
23
68Ga-Exendin-4 PET/CT Detects Insulinomas in Patients With Endogenous Hyperinsulinemic Hypoglycemia in MEN-1. 61
31298706 2019
24
Insulin autoimmune syndrome induced by exogenous insulin injection: a four-case series. 61
31883520 2019
25
Concurrent Adult-Onset Diffuse β-Cell Nesidioblastosis and Pancreatic Neuroendocrine Tumor: A Case Report and Review of the Literature. 61
31244364 2019
26
Ectopic insulinoma: case report. 61
31852474 2019
27
Nesidioblastosis following laparoscopic sleeve gastrectomy. 61
31465534 2019
28
NESIDIOBLASTOSIS IN AN ADULT WITH SHORT GUT SYNDROME AND TYPE 2 DIABETES. 61
31967075 2019
29
Clinical and enzymatic phenotypes in congenital hyperinsulinemic hypoglycemia due to glucokinase-activating mutations: A report of two cases and a brief overview of the literature. 61
31094068 2019
30
Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1. 61
31119523 2019
31
Exendin-4 Derivatives with an Albumin-Binding Moiety Show Decreased Renal Retention and Improved GLP-1 Receptor Targeting. 61
31393738 2019
32
Insulin Autoantibody Syndrome: Varying Clinical Presentations and Response Patterns of an Underrecognized Entity. 61
31803594 2019
33
Reversal of Roux en Y gastric bypass: largest single institution experience. 61
31262648 2019
34
Hypoglycemia After Gastric Bypass Successfully Treated With Calcium Channel Blockers: Two Case Reports. 61
31286108 2019
35
Erratum. Fetal Macrosomia and Neonatal Hyperinsulinemic Hypoglycemia Associated With Transplacental Transfer of Sulfonylurea in a Mother With KCNJ11-Related Neonatal Diabetes. Diabetes Care 2014;37:3333-3335. 61
31221702 2019
36
68Ga-DOTA-Exendin PET-MRI Fusion Imaging in a Case of Insulinoma. 61
31107750 2019
37
Postprandial hypoglycemia after gastric bypass surgery: from pathogenesis to diagnosis and treatment. 61
31082828 2019
38
Striking Visualization of Diffuse Congenital Nesidioblastosis on Ga-68 DOTATATE PET/CT 61
31237140 2019
39
Re: Clover et al. Transformation of a non-secretory neuro-endocrine tumor to insulinoma after treatment with Sunitinib: a case report and review of the literature. J Oncol Pharm Pract 2018. DOI: 10.1177/1078155218791309: Sunitinib-associated hyperinsulinemic hypoglycemia in patients with neuroendocrine tumors: drug-effect or tumor transformation? 61
30760166 2019
40
Volume Replacement Fluid Demarks Benign Insulinoma With 68Ga-DOTA-Exendin-4 PET/CT. 61
30889001 2019
41
Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study. 61
30882046 2019
42
Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata's disease) in a hypoglycemic child: a case report and review of the literature. 61
30862762 2019
43
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. 61
30719864 2019
44
Tracer Accumulation in Relation to Venous Thrombus on 18F-DOPA PET/CT in a Case of Persistent Hyperinsulinemic Hypoglycemia of Infancy. 61
31057687 2019
45
A novel treatment of hyperinsulinemic hypoglycemia induced by insulin antibodies with alkali administration: a case report. 61
30853027 2019
46
Hyperinsulinemic hypoglycemia subtype glucokinase V91L mutant induces necrosis in β-cells via ATP depletion. 61
30623114 2019
47
Pancreatic nesidioblastosis: Case report. 61
30139587 2019
48
A Case Report of Insulinoma Relapse on Background Nesidioblastosis: A Rare Cause of Adult Hypoglycemia. 61
30597028 2019
49
Glucagon-like peptide 1 (GLP-1) drives postprandial hyperinsulinemic hypoglycemia in pregnant women with a history of Roux-en-Y gastric bypass operation. 61
30448278 2019
50
Hyperinsulinemic Hypoglycemia in a Neonate. 61
30692138 2019
Sources

Variations for Hyperinsulinemic Hypoglycemia

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ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia:

6 (show top 50) (show all 113) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ11 NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys)SNV Pathogenic 435558 rs766891274 11:17409233-17409233 11:17387686-17387686
2 KCNJ11 NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro)SNV Pathogenic 8665 rs28936678 11:17409199-17409199 11:17387652-17387652
3 KCNJ11 NM_001166290.2(KCNJ11):c.-16-210C>ASNV Pathogenic 8673 rs104894236 11:17409603-17409603 11:17388056-17388056
4 KCNJ11 NM_000525.3(KCNJ11):c.-134G>TSNV Pathogenic 8674 rs387906398 11:17409772-17409772 11:17388225-17388225
5 KCNJ11 NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu)SNV Pathogenic 8675 rs104894237 11:17408878-17408878 11:17387331-17387331
6 KCNJ11 NM_000525.3(KCNJ11):c.776A>G (p.His259Arg)SNV Pathogenic 8677 rs104894248 11:17408863-17408863 11:17387316-17387316
7 KCNJ11 NM_000525.3(KCNJ11):c.466G>A (p.Gly156Arg)SNV Pathogenic 8684 rs1404429785 11:17409173-17409173 11:17387626-17387626
8 KCNJ11 NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met)SNV Pathogenic 211230 rs780957825 11:17408758-17408758 11:17387211-17387211
9 KCNJ11 NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys)SNV Pathogenic/Likely pathogenic 8686 rs267607196 11:17408795-17408795 11:17387248-17387248
10 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)SNV drug response 8678 rs5219 11:17409572-17409572 11:17388025-17388025
11 KCNJ11 NM_000525.3(KCNJ11):c.560C>T (p.Ala187Val)SNV Likely pathogenic 551187 rs1371185696 11:17409079-17409079 11:17387532-17387532
12 KCNJ11 NM_000525.3(KCNJ11):c.365T>C (p.Leu122Pro)SNV Likely pathogenic 694392 11:17409274-17409274 11:17387727-17387727
13 KCNJ11 NM_000525.3(KCNJ11):c.868G>A (p.Val290Met)SNV Likely pathogenic 435556 rs750414160 11:17408771-17408771 11:17387224-17387224
14 KCNJ11 NM_000525.3(KCNJ11):c.100C>T (p.Arg34Cys)SNV Likely pathogenic 557416 rs954727530 11:17409539-17409539 11:17387992-17387992
15 KCNJ11 NM_000525.3(KCNJ11):c.290dup (p.His97fs)duplication Likely pathogenic 557649 rs1554901854 11:17409348-17409349 11:17387801-17387802
16 KCNJ11 NM_000525.3(KCNJ11):c.498C>A (p.Cys166Ter)SNV Likely pathogenic 557258 rs587783669 11:17409141-17409141 11:17387594-17387594
17 KCNJ11 NM_000525.3(KCNJ11):c.1064dup (p.Leu356fs)duplication Likely pathogenic 555247 rs1337406718 11:17408574-17408575 11:17387027-17387028
18 KCNJ11 NM_000525.3(KCNJ11):c.154C>T (p.Gln52Ter)SNV Likely pathogenic 242910 rs879253757 11:17409485-17409485 11:17387938-17387938
19 KCNJ11 NM_000525.3(KCNJ11):c.866G>C (p.Gly289Ala)SNV Likely pathogenic 211228 rs797045637 11:17408773-17408773 11:17387226-17387226
20 KCNJ11 NM_000525.3(KCNJ11):c.866G>T (p.Gly289Val)SNV Likely pathogenic 211229 rs797045637 11:17408773-17408773 11:17387226-17387226
21 KCNJ11 NM_001166290.2(KCNJ11):c.98_101CCTT[1] (p.Leu35fs)short repeat Likely pathogenic 556063 rs1554901829 11:17409273-17409276 11:17387726-17387729
22 KCNJ11 NM_000525.3(KCNJ11):c.765_771dup (p.Tyr258fs)duplication Likely pathogenic 553023 rs1554901690 11:17408867-17408868 11:17387320-17387321
23 KCNJ11 NM_001166290.2(KCNJ11):c.190G>A (p.Val64Met)SNV Conflicting interpretations of pathogenicity 877702 11:17409188-17409188 11:17387641-17387641
24 KCNJ11 NM_001166290.2(KCNJ11):c.*766G>ASNV Conflicting interpretations of pathogenicity 877520 11:17407700-17407700 11:17386153-17386153
25 KCNJ11 NM_001166290.2(KCNJ11):c.*848A>GSNV Conflicting interpretations of pathogenicity 877518 11:17407618-17407618 11:17386071-17386071
26 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.-154G>TSNV Conflicting interpretations of pathogenicity 303740 rs539975714 11:17409792-17409792 11:17388245-17388245
27 KCNJ11 NM_000525.3(KCNJ11):c.*1197G>ASNV Conflicting interpretations of pathogenicity 303708 rs191682072 11:17407269-17407269 11:17385722-17385722
28 KCNJ11 NM_000525.3(KCNJ11):c.*686A>GSNV Conflicting interpretations of pathogenicity 303717 rs147282653 11:17407780-17407780 11:17386233-17386233
29 KCNJ11 NM_000525.3(KCNJ11):c.*40C>TSNV Conflicting interpretations of pathogenicity 303733 rs746850899 11:17408426-17408426 11:17386879-17386879
30 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.-559G>CSNV Conflicting interpretations of pathogenicity 303745 rs547932593 11:17410197-17410197 11:17388650-17388650
31 KCNJ11 NM_000525.3(KCNJ11):c.1095C>T (p.Arg365=)SNV Conflicting interpretations of pathogenicity 256362 rs143276279 11:17408544-17408544 11:17386997-17386997
32 KCNJ11 NM_000525.3(KCNJ11):c.*76G>ASNV Conflicting interpretations of pathogenicity 303730 rs193076739 11:17408390-17408390 11:17386843-17386843
33 KCNJ11 NM_000525.3(KCNJ11):c.804C>T (p.Tyr268=)SNV Conflicting interpretations of pathogenicity 303735 rs778225010 11:17408835-17408835 11:17387288-17387288
34 KCNJ11 NM_000525.3(KCNJ11):c.*862G>TSNV Conflicting interpretations of pathogenicity 303712 rs547635594 11:17407604-17407604 11:17386057-17386057
35 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.-498T>CSNV Conflicting interpretations of pathogenicity 303742 rs529946415 11:17410136-17410136 11:17388589-17388589
36 KCNJ11 NM_000525.3(KCNJ11):c.*697G>ASNV Conflicting interpretations of pathogenicity 303716 rs117976105 11:17407769-17407769 11:17386222-17386222
37 KCNJ11 NM_000525.3(KCNJ11):c.*487A>GSNV Conflicting interpretations of pathogenicity 303721 rs79457490 11:17407979-17407979 11:17386432-17386432
38 KCNJ11 NM_000525.3(KCNJ11):c.*376C>TSNV Conflicting interpretations of pathogenicity 303723 rs5208 11:17408090-17408090 11:17386543-17386543
39 KCNJ11 NM_000525.3(KCNJ11):c.*288G>ASNV Conflicting interpretations of pathogenicity 303725 rs5209 11:17408178-17408178 11:17386631-17386631
40 KCNJ11 NM_000525.3(KCNJ11):c.*92C>TSNV Conflicting interpretations of pathogenicity 303729 rs5212 11:17408374-17408374 11:17386827-17386827
41 KCNJ11 NM_000525.3(KCNJ11):c.*529G>ASNV Conflicting interpretations of pathogenicity 303720 rs115826080 11:17407937-17407937 11:17386390-17386390
42 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.108G>A (p.Val36=)SNV Conflicting interpretations of pathogenicity 211221 rs112070496 11:17409531-17409531 11:17387984-17387984
43 KCNJ11 NM_000525.3(KCNJ11):c.843C>T (p.Leu281=)SNV Conflicting interpretations of pathogenicity 211227 rs116392938 11:17408796-17408796 11:17387249-17387249
44 KCNJ11 NM_000525.3(KCNJ11):c.*1168G>ASNV Conflicting interpretations of pathogenicity 303709 rs182349583 11:17407298-17407298 11:17385751-17385751
45 KCNJ11 NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys)SNV Conflicting interpretations of pathogenicity 211226 rs752507753 11:17409560-17409560 11:17388013-17388013
46 KCNJ11 NM_000525.3(KCNJ11):c.1034C>T (p.Thr345Met)SNV Conflicting interpretations of pathogenicity 303734 rs114215135 11:17408605-17408605 11:17387058-17387058
47 KCNJ11 NM_000525.3(KCNJ11):c.718dup (p.Met240fs)duplication Conflicting interpretations of pathogenicity 555590 rs1554901718 11:17408920-17408921 11:17387373-17387374
48 KCNJ11 NM_000525.3(KCNJ11):c.819C>T (p.Ser273=)SNV Conflicting interpretations of pathogenicity 792496 11:17408820-17408820 11:17387273-17387273
49 KCNJ11 NM_000525.3(KCNJ11):c.902G>A (p.Arg301His)SNV Conflicting interpretations of pathogenicity 8683 rs74339576 11:17408737-17408737 11:17387190-17387190
50 KCNJ11 NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys)SNV Conflicting interpretations of pathogenicity 36430 rs41282930 11:17408485-17408485 11:17386938-17386938
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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 36
Show member pathways
 12.68 PDX1 MEN1 KCNJ11 INS GCK GCG
2
Glucose / Energy Metabolism 4
12.3 PDX1 MAFA INSR INS HNF4A GLUD1
3
Integration of energy metabolism 65
Show member pathways
 12.12 KCNJ11 INS GCG ABCC8
4
Hepatic ABC Transporters 63
Show member pathways
 11.89 PDX1 INSR INS HNF4A GCK FOXA2
5
Regulation of beta-cell development 65
Show member pathways
 11.73 PDX1 MAFA INS HNF4A GCK FOXA2
6
Type II diabetes mellitus 36 1
Show member pathways
 11.54 PDX1 MAFA KCNJ11 INSR INS HNF4A
7
Cardiac Progenitor Differentiation 1
11.33 INS IGF2 FOXA2
8
FOXA1 transcription factor network 1
Show member pathways
 11.24 INS GCG FOXA2
9
FOXA2 and FOXA3 transcription factor networks 1
10.87 PDX1 KCNJ11 INS HNF4A HADH GCK
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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 nuclear chromatin GO:0000790 9.43 PDX1 MEN1 MAFA HNF4A H2AC18 FOXA2
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.89 SST PDX1 KCNJ11 HADH ABCC8
2 carbohydrate metabolic process GO:0005975 9.77 INSR INS IGF2 GCKR GCK
3 insulin receptor signaling pathway GO:0008286 9.76 INSR INS IGF2
4 response to glucose GO:0009749 9.74 PDX1 MAFA HNF4A
5 positive regulation of insulin secretion GO:0032024 9.69 PDX1 GLUD1 GCK
6 glucose metabolic process GO:0006006 9.65 PDX1 KCNJ11 INS IGF2 GCK
7 negative regulation of insulin secretion GO:0046676 9.63 KCNJ11 HADH ABCC8
8 positive regulation of mitotic nuclear division GO:0045840 9.61 INSR INS IGF2
9 neuron projection maintenance GO:1990535 9.58 INSR INS
10 cellular glucose homeostasis GO:0001678 9.58 GCKR GCK ABCC8
11 inorganic cation transmembrane transport GO:0098662 9.56 KCNJ11 ABCC8
12 positive regulation of respiratory burst GO:0060267 9.55 INSR INS
13 type B pancreatic cell differentiation GO:0003309 9.54 PDX1 MEN1
14 negative regulation of glucokinase activity GO:0033132 9.52 GCKR FOXA2
15 exocrine pancreas development GO:0031017 9.5 PDX1 INSR IGF2
16 detection of glucose GO:0051594 9.48 PDX1 GCK
17 positive regulation of glycogen biosynthetic process GO:0045725 9.46 INSR INS IGF2 GCK
18 regulation of insulin secretion GO:0050796 9.43 SLC16A1 KCNJ11 HNF4A GCK GCG ABCC8
19 glucose homeostasis GO:0042593 9.17 SLC16A1 PDX1 INSR INS HNF4A GCKR

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

# Name GO ID Score Top Affiliating Genes
1 cation-transporting ATPase activity GO:0019829 9.32 KCNJ11 ABCC8
2 NAD+ binding GO:0070403 9.26 HADH GLUD1
3 hormone activity GO:0005179 9.26 SST INS IGF2 GCG
4 ATP-activated inward rectifier potassium channel activity GO:0015272 9.16 KCNJ11 ABCC8
5 insulin-like growth factor receptor binding GO:0005159 8.8 INSR INS IGF2
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Sources for Hyperinsulinemic Hypoglycemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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