MCID: HYP050
MIFTS: 57

Hyperinsulinemic Hypoglycemia

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia:

Name: Hyperinsulinemic Hypoglycemia 12 29 6 15 17 71
Islet Cell Hyperplasia 12 29 6
Nesidioblastosis 12 44 71
Persistent Hyperinsulinemia Hypoglycemia of Infancy 12 6
Hyperinsulinemic Hypoglycaemia 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:13317
MeSH 44 D046768
NCIt 50 C4375
SNOMED-CT 67 42681006
ICD10 32 E16.9
Orphanet 58 ORPHA443095
UMLS 71 C0027773 C1864903

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, 1 and hyperinsulinemic hypoglycemia, familial, 7. 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 Glucagon and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include pancreas, pancreatic islet and kidney, 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...

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 279)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 1 33.4 KCNJ11 H2AC18 ABCC8
2 hyperinsulinemic hypoglycemia, familial, 7 33.3 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
3 hyperinsulinemic hypoglycemia, familial, 2 33.2 SST KCNJ11 INS HNF4A H2AC18 ABCC8
4 hyperinsulinemic hypoglycemia, familial, 6 33.1 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
5 hyperinsulinemic hypoglycemia, familial, 3 32.9 H2AC18 GCK
6 hypoglycemia 31.6 SST SLC16A1 KCNJ11 INSR INS IGF2
7 insulinoma 31.2 SST PDX1 MEN1 MAFA INS GCK
8 dumping syndrome 31.1 SST INS GCG
9 hyperinsulinism 31.1 SST SLC16A1 KCNJ11 INSR INS IGF2
10 fasting hypoglycemia 31.0 INSR IGF2 GLUD1
11 fetal macrosomia 30.8 INSR INS IGF2
12 3-hydroxyacyl-coa dehydrogenase deficiency 30.8 HADH GLUD1 GCK
13 neonatal diabetes 30.7 PDX1 KCNJ11 INS GCK ABCC8
14 beckwith-wiedemann syndrome 30.7 MEN1 KCNJ11 INS IGF2 H2AC18 ABCC8
15 asphyxia neonatorum 30.6 SLC16A1 KCNJ11 INS HADH ABCC8
16 gestational diabetes 30.6 KCNJ11 INSR INS HNF4A GCK GCG
17 factitious disorder 30.5 KCNJ11 INS GCK ABCC8
18 hyperglycemia 30.5 SST PDX1 KCNJ11 INSR INS HNF4A
19 donohue syndrome 30.5 INSR INS GCK
20 glucose intolerance 30.5 SST KCNJ11 INSR INS GCK GCG
21 islet cell tumor 30.5 SST MEN1 INSR INS IGF2 GCG
22 gastrointestinal stromal tumor 30.4 SST MEN1 IGF2 HNF4A
23 multiple endocrine neoplasia, type i 30.4 SST PDX1 MEN1 INS H2AC18 GCG
24 abdominal obesity-metabolic syndrome 1 30.4 INSR INS GCK GCG
25 gastrinoma 30.2 SST MEN1 INS
26 hypoglycemic coma 30.2 INS IGF2 GCG
27 permanent neonatal diabetes mellitus 30.1 PDX1 KCNJ11 INS HNF4A GCKR GCK
28 type 1 diabetes mellitus 30.1 SST PDX1 INSR INS IGF2 HNF4A
29 pituitary gland disease 30.1 SST MEN1 INS H2AC18 GCG
30 meckel diverticulum 29.8 SST GCG
31 teratoma 29.8 SST INS GCG
32 maturity-onset diabetes of the young 29.7 SST SLC16A1 PDX1 MAFA KCNJ11 INS
33 type 2 diabetes mellitus 29.7 SST PDX1 KCNJ11 INSR INS IGF2
34 diabetes mellitus 29.1 SST PMM2 PDX1 MEN1 MAFA KCNJ11
35 hyperinsulinemic hypoglycemia, familial, 5 11.9
36 hyperinsulinemic hypoglycemia, familial, 4 11.9
37 insulinomatosis and diabetes mellitus 11.3
38 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.3
39 diazoxide-resistant diffuse hyperinsulinism 11.2
40 diazoxide-sensitive diffuse hyperinsulinism 11.2
41 hyperinsulinism due to hnf4a deficiency 11.2
42 diazoxide-resistant hyperinsulinism 11.2
43 hyperinsulinism due to ucp2 deficiency 11.2
44 hyperinsulinism due to hnf1a deficiency 11.2
45 diazoxide-resistant focal hyperinsulinism 11.2
46 microcephaly, short stature, and impaired glucose metabolism 1 11.1
47 mahvash disease 11.1
48 munchausen by proxy 10.4 KCNJ11 GCK ABCC8
49 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.4 INSR INS
50 fetal erythroblastosis 10.4 HADH GLUD1

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



Diseases related to Hyperinsulinemic Hypoglycemia

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia

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 GR00386-A-1 9.64 ALG3 FOXA2 GCG HNF4A SLC16A1
9 Decreased viability GR00402-S-2 9.64 GLUD1

MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 ABCC8 ALG3 FOXA2 GCK GLUD1 HADH
2 homeostasis/metabolism MP:0005376 10.25 ABCC8 FOXA2 GCK GCKR GLUD1 HADH
3 endocrine/exocrine gland MP:0005379 10.22 ABCC8 FOXA2 GCK GLUD1 HADH HNF4A
4 digestive/alimentary MP:0005381 10.03 FOXA2 IGF2 INS INSR MEN1 PDX1
5 adipose tissue MP:0005375 10 FOXA2 HADH INS INSR KCNJ11 SLC16A1
6 liver/biliary system MP:0005370 10 FOXA2 GCK GCKR HNF4A IGF2 INS
7 mortality/aging MP:0010768 9.97 ALG3 FOXA2 GCK HNF4A IGF2 INS
8 no phenotypic analysis MP:0003012 9.5 ABCC8 IGF2 INS KCNJ11 MAFA PDX1
9 renal/urinary system MP:0005367 9.28 GCK HADH HNF4A IGF2 INS INSR

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucagon Approved Phase 2 16941-32-5
2 Gastrointestinal Agents Phase 2
3
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
4
Octreotide Approved, Investigational Phase 1 83150-76-9 383414 6400441
5
Lactitol Approved, Investigational Phase 1 585-86-4 157355
6
Exenatide Approved, Investigational Phase 1 141758-74-9 15991534
7 Cardiac Glycosides Phase 1
8 Glycoside Hydrolase Inhibitors Phase 1
9 Insulin, Globin Zinc Phase 1
10 Hypoglycemic Agents Phase 1
11 insulin Phase 1
12 Glucagon-Like Peptide 1 Phase 1
13 Incretins Phase 1
14 Anti-Obesity Agents Phase 1
15
Insulin aspart Approved 116094-23-6 16132418
16
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
17
Canagliflozin Approved 842133-18-0
18
Somatostatin Approved, Investigational 51110-01-1, 38916-34-6 53481605
19
Dopamine Approved 51-61-6, 62-31-7 681
20
Cysteine Approved, Nutraceutical Early Phase 1 52-90-4 5862
21
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Early Phase 1 53-43-0 5881
22
gastric inhibitory polypeptide Investigational 100040-31-1
23 Immunologic Factors Early Phase 1
24 DHEA (Dehydroepiandrosterone) Early Phase 1
25 Adjuvants, Immunologic Early Phase 1
26 Nutrients
27 Sodium-Glucose Transporter 2 Inhibitors
28 Dihydroxyphenylalanine
29 Dopamine Agents
30 Neurotransmitter Agents
31 Fluorides

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
2 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
3 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
4 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 Lyo avexitide;Liq avexitide
5 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
6 Subcutaneous Injection of Exendin (9-39) in Subjects With Hyperinsulinemic Hypoglycemia Post-Bariatric Surgery Unknown status NCT02996812 Phase 1 Exendin (9-39)
7 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
8 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
9 Visualizing Beta Cells in Patients With Hyperinsulinemic Hypoglycemia After Bariatric Surgery Recruiting NCT03182192 Phase 1
10 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
11 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
12 Hypoglycemia Associated Autonomic Failure in Type 1 DM, Question 3 Completed NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
13 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Recruiting NCT03930368
14 Role of Nutrient Transit and Incretin Hormones in Hyperinsulinemic Hypoglycemia Recruiting NCT04615546
15 Canagliflozin: a New Therapeutic Option in Patients That Present Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y-gastric By-pass Recruiting NCT04720859 Canagliflozin 300 MG Oral Tablet
16 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
17 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
18 Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia No longer available NCT02533219 18 F-DOPA

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 29 KCNJ11
2 Hyperinsulinemic Hypoglycemia 29

Anatomical Context for Hyperinsulinemic Hypoglycemia

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

40
Pancreas, Pancreatic Islet, Kidney, Pituitary, Brain, Spleen, B Cells

Publications for Hyperinsulinemic Hypoglycemia

Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50) (show all 1168)
# Title Authors PMID Year
1
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. 61 6
10993895 2000
2
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. 61 6
10334322 1999
3
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. 61 6
9769320 1998
4
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. 61 6
8751851 1996
5
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. 61 6
7716548 1995
6
Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. 61 6
7847376 1995
7
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping. 6
31464105 2019
8
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. 6
23273570 2013
9
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. 6
21978130 2012
10
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. 6
20573158 2011
11
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. 6
21378087 2011
12
Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism. 6
19357197 2009
13
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 6
18596924 2008
14
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 6
15562009 2005
15
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 6
15579781 2004
16
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. 6
12941782 2003
17
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. 6
12559865 2003
18
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 6
11018078 2000
19
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. 6
10447255 1999
20
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. 6
9469993 1998
21
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. 6
9356020 1997
22
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. 6
8923011 1996
23
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes. 61
33580824 2021
24
Necrotizing Enterocolitis in Neonates With Hyperinsulinemic Hypoglycemia Treated With Diazoxide. 61
33483452 2021
25
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease. 61
33490854 2021
26
Minimally Invasive Conversion of a Gastric Bypass into Sleeve Gastrectomy for Postprandial Hyperinsulinemic Hypoglycemia. 61
33537949 2021
27
Imaging of Insulinoma by Targeting Glucagonlike Peptide-1 Receptor. 61
33589387 2021
28
Symptomatic Hypoglycemia After Gastric Bypass: Incidence and Predictive Factors in a Cohort of 1,138 Consecutive Patients. 61
33608995 2021
29
Successful treatment of adult-onset nesidioblastosis by continuous subcutaneous octreotide infusion in a patient on hemodialysis. 61
33489173 2021
30
Successful Control of Hypoglycemia with Pasireotide LAR in a Patient with Inappropriate Insulin Secretion. 61
33574715 2021
31
Conjugated hyperbilirubinemia among infants with hyperinsulinemic hypoglycemia. 61
33469712 2021
32
Ectopic insulin secretion by a large-cell neuroendocrine carcinoma of the cervix. 61
33505694 2021
33
Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis. 61
33571197 2021
34
Laparoscopic Gastric Bypass Reversal with Concomitant Sleeve Gastrectomy (SG) for Refractory Hypoglycemia: an Unusual Procedure. 61
33165754 2021
35
Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature. 61
32935446 2021
36
A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia. 61
32336187 2020
37
Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes. 61
33300273 2020
38
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management. 61
32185602 2020
39
Utility of 68 Ga-DOTA-Exendin-4 PET/CT imaging in distinguishing between insulinoma and nesidioblastosis in patients with confirmed endogenous hyperinsulinaemic hypoglycaemia. 61
33314504 2020
40
The Effectiveness of Sirolimus Treatment in Two Rare Disorders with Nonketotic Hypoinsulinemic Hypoglycemia: The Role of mTOR Pathway 61
32157856 2020
41
Receptor-Targeted Photodynamic Therapy of Glucagon-Like Peptide 1 Receptor-Positive Lesions. 61
32385165 2020
42
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia. 61
33224014 2020
43
Hereditary Tyrosinemia Compounded With Hyperinsulinemic Hypoglycemia: Challenging Diagnosis of a Rare Case. 61
33365210 2020
44
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation. 61
32948218 2020
45
Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia. 61
32905087 2020
46
Pulmonary Hypertension Following Increased Dosing of Diazoxide in an Infant. 61
32921661 2020
47
Insulin autoimmune syndrome: A rare cause of hypoglycemia. 61
33209842 2020
48
Pitfalls in the Detection of Insulinomas With Glucagon-Like Peptide-1 Receptor Imaging. 61
32558709 2020
49
[Intermittent disturbances of perception during fasting in a 46-year-old female patient]. 61
32734334 2020
50
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group. 61
32738013 2020

Variations for Hyperinsulinemic Hypoglycemia

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia:

6 (show top 50) (show all 451)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ11 NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) SNV Pathogenic 211230 rs780957825 11:17408758-17408758 11:17387211-17387211
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>A SNV Pathogenic 8673 rs104894236 11:17409603-17409603 11:17388056-17388056
4 KCNJ11 NM_000525.3(KCNJ11):c.-134G>T SNV 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.844G>A (p.Glu282Lys) SNV Pathogenic 8686 rs267607196 11:17408795-17408795 11:17387248-17387248
9 ABCC8 NM_000352.4:c.(?_1818)_(1923_?)del Deletion Pathogenic 39470
10 KCNJ11 NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys) SNV Pathogenic 435558 rs766891274 11:17409233-17409233 11:17387686-17387686
11 KCNJ11 NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del) Microsatellite Pathogenic 988945 11:17408745-17408747 11:17387198-17387200
12 ABCC8 NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) SNV Pathogenic 9086 rs387906407 11:17417157-17417157 11:17395610-17395610
13 ABCC8 NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val) SNV Pathogenic 18449 rs72559723 11:17448671-17448671 11:17427124-17427124
14 ABCC8 NM_000352.6(ABCC8):c.3989-9G>A SNV Pathogenic 9088 rs151344623 11:17418602-17418602 11:17397055-17397055
15 ABCC8 NM_000352.5(ABCC8):c.2292-1G>A SNV Pathogenic 9090 rs1564905676 11:17436158-17436158 11:17414611-17414611
16 ABCC8 NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) SNV Pathogenic 9094 rs28936370 11:17418527-17418527 11:17396980-17396980
17 ABCC8 NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) SNV Pathogenic 9097 rs137852671 11:17415842-17415842 11:17394295-17394295
18 ABCC8 NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) SNV Pathogenic 9099 rs137852672 11:17485004-17485004 11:17463457-17463457
19 ABCC8 NM_000352.6(ABCC8):c.4154_4156CCT[1] (p.Ser1386del) Microsatellite Pathogenic 9100 rs387906408 11:17417438-17417440 11:17395891-17395893
20 ABCC8 NM_000352.4(ABCC8):c.-190C>G SNV Pathogenic 9101 rs1395224084 11:17498513-17498513 11:17476966-17476966
21 ABCC8 NM_000352.6(ABCC8):c.512dup (p.Thr172fs) Duplication Pathogenic 39471 rs1564980510 11:17485051-17485052 11:17463504-17463505
22 ABCC8 NM_000352.6(ABCC8):c.1333-1013A>G SNV Pathogenic 39472 11:17465872-17465872 11:17444325-17444325
23 ABCC8 NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) Deletion Pathogenic 157696 rs587783169 11:17426107-17426107 11:17404560-17404560
24 ABCC8 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) Deletion Pathogenic 196880 rs151344624 11:17417435-17417437 11:17395888-17395890
25 ABCC8 NM_000352.5(ABCC8):c.4119+1G>A SNV Pathogenic 210078 rs797045211 11:17418462-17418462 11:17396915-17396915
26 ABCC8 NM_000352.5(ABCC8):c.2117-1G>A SNV Pathogenic 210072 rs797045207 11:17448702-17448702 11:17427155-17427155
27 ABCC8 NM_000352.6(ABCC8):c.1879del (p.His627fs) Deletion Pathogenic 370909 rs764613146 11:17450156-17450156 11:17428609-17428609
28 ABCC8 NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) SNV Pathogenic 370163 rs1057516281 11:17419891-17419891 11:17398344-17398344
29 ABCC8 NM_001287174.2(ABCC8):c.1630+1G>T SNV Pathogenic 370604 rs773306994 11:17464266-17464266 11:17442719-17442719
30 ABCC8 NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter) Duplication Pathogenic 371346 rs1057517199 11:17483367-17483368 11:17461820-17461821
31 ABCC8 NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) SNV Pathogenic 434053 rs769518471 11:17428605-17428605 11:17407058-17407058
32 ABCC8 NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs) Indel Pathogenic 434054 rs1554917411 11:17436142-17436154 11:17414595-17414607
33 ABCC8 NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) SNV Pathogenic 434056 rs139328569 11:17452386-17452386 11:17430839-17430839
34 ABCC8 NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg) SNV Pathogenic 434044 rs1554904102 11:17415908-17415908 11:17394361-17394361
35 ABCC8 NM_000352.6(ABCC8):c.1752del (p.His584fs) Deletion Pathogenic 434060 rs1554926539 11:17452426-17452426 11:17430879-17430879
36 ABCC8 NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) Duplication Pathogenic 434055 rs768951263 11:17470110-17470111 11:17448563-17448564
37 ABCC8 NM_001287174.2(ABCC8):c.3871-1G>A SNV Pathogenic 552652 rs766431403 11:17418861-17418861 11:17397314-17397314
38 ABCC8 NM_000352.6(ABCC8):c.1634del (p.Phe545fs) Deletion Pathogenic 446765 rs1260178539 11:17453788-17453788 11:17432241-17432241
39 ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) SNV Pathogenic 188915 rs72559722 11:17434263-17434263 11:17412716-17412716
40 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) SNV Pathogenic 495834 rs72559734 11:17496502-17496502 11:17474955-17474955
41 ABCC8 NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) SNV Pathogenic 217846 rs863225280 11:17483269-17483269 11:17461722-17461722
42 ABCC8 NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) SNV Pathogenic 633027 rs1564977373 11:17483257-17483257 11:17461710-17461710
43 ABCC8 NM_000352.6(ABCC8):c.598del (p.Thr200fs) Deletion Pathogenic 802661 rs1591890137 11:17483354-17483354 11:17461807-17461807
44 ABCC8 NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter) SNV Pathogenic 585343 rs755259997 11:17428490-17428490 11:17406943-17406943
45 ABCC8 NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) SNV Pathogenic 585351 rs72559730 11:17483210-17483210 11:17461663-17461663
46 ABCC8 NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn) SNV Pathogenic 977924 11:17432200-17432200 11:17410653-17410653
47 ABCC8 NM_000352.6(ABCC8):c.2833_2834GA[1] (p.Arg946fs) Microsatellite Pathogenic/Likely pathogenic 556981 rs1554913069 11:17428983-17428986 11:17407436-17407439
48 ABCC8 NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) Deletion Pathogenic/Likely pathogenic 280115 rs886041392 11:17428448-17428467 11:17406901-17406920
49 ABCC8 NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) SNV Pathogenic/Likely pathogenic 434045 rs72559715 11:17415926-17415926 11:17394379-17394379
50 ABCC8 NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) SNV Pathogenic/Likely pathogenic 210074 rs761749884 11:17491729-17491729 11:17470182-17470182

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
12.68 PDX1 MEN1 KCNJ11 INS GCK GCG
2 12.3 PDX1 MAFA INSR INS HNF4A GLUD1
3
Show member pathways
12.12 KCNJ11 INS GCG ABCC8
4
Show member pathways
11.89 PDX1 INSR INS HNF4A GCK FOXA2
5
Show member pathways
11.73 PDX1 MAFA INS HNF4A GCK FOXA2
6
Show member pathways
11.54 PDX1 MAFA KCNJ11 INSR INS HNF4A
7 11.33 INS IGF2 FOXA2
8
Show member pathways
11.24 INS GCG FOXA2
9 10.87 PDX1 KCNJ11 INS HNF4A HADH GCK

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 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 regulation of transcription, DNA-templated GO:0006355 10.13 PDX1 MAFA INSR INS IGF2 HNF4A
2 response to drug GO:0042493 9.85 SST PDX1 KCNJ11 HADH ABCC8
3 insulin receptor signaling pathway GO:0008286 9.74 INSR INS IGF2
4 response to glucose GO:0009749 9.72 PDX1 MAFA HNF4A
5 carbohydrate metabolic process GO:0005975 9.72 INSR INS IGF2 GCKR GCK
6 positive regulation of insulin secretion GO:0032024 9.65 PDX1 GLUD1 GCK
7 glucose metabolic process GO:0006006 9.65 PDX1 KCNJ11 INS IGF2 GCK
8 inorganic cation transmembrane transport GO:0098662 9.58 KCNJ11 ABCC8
9 negative regulation of insulin secretion GO:0046676 9.58 KCNJ11 HADH ABCC8
10 neuron projection maintenance GO:1990535 9.56 INSR INS
11 type B pancreatic cell differentiation GO:0003309 9.54 PDX1 MEN1
12 positive regulation of mitotic nuclear division GO:0045840 9.54 INSR INS IGF2
13 positive regulation of respiratory burst GO:0060267 9.52 INSR INS
14 negative regulation of glucokinase activity GO:0033132 9.51 GCKR FOXA2
15 regulation of insulin secretion GO:0050796 9.5 SLC16A1 KCNJ11 HNF4A HADH GCK GCG
16 exocrine pancreas development GO:0031017 9.49 PDX1 IGF2
17 positive regulation of glycogen biosynthetic process GO:0045725 9.46 INSR INS IGF2 GCK
18 detection of glucose GO:0051594 9.43 PDX1 GCK
19 glucose homeostasis GO:0042593 9.23 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 NAD+ binding GO:0070403 9.32 HADH GLUD1
2 cation-transporting ATPase activity GO:0019829 9.26 KCNJ11 ABCC8
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

Sources for Hyperinsulinemic Hypoglycemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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