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MCID: HYP050
MIFTS: 56

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 6 15 17 70
Islet Cell Hyperplasia 12 29 6
Nesidioblastosis 12 44 70
Persistent Hyperinsulinemia Hypoglycemia of Infancy 12 6
Hyperinsulinemic Hypoglycaemia 58

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases Fetal diseases
Anatomical: Endocrine diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32
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 70 C0027773 C1864903
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Summaries for Hyperinsulinemic Hypoglycemia

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Disease Ontology : 12 A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, also known as islet cell hyperplasia, is related to hyperinsulinemic hypoglycemia, familial, 1 and hyperinsulinemic hypoglycemia, familial, 7. An important gene associated with Hyperinsulinemic Hypoglycemia is ABCC8 (ATP Binding Cassette Subfamily C Member 8), 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, kidney and pituitary, and related phenotypes are growth/size/body region and homeostasis/metabolism

Wikipedia : 73 Hyperinsulinemic hypoglycemia describes the condition and effects of low blood glucose caused by... more...

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Related Diseases for Hyperinsulinemic Hypoglycemia

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Diseases in the Hyperinsulinemic Hypoglycemia family:

Hyperinsulinemic Hypoglycemia, Familial, 1 Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic Hypoglycemia, Familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic Hypoglycemia, Familial, 5 Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 7

Diseases related to Hyperinsulinemic Hypoglycemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 280)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 1 33.5 LOC110121471 KCNJ11 H2AC18 ABCC8
2 hyperinsulinemic hypoglycemia, familial, 7 33.4 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
3 hyperinsulinemic hypoglycemia, familial, 2 33.4 SST LOC110121471 KCNJ11 INS HNF4A H2AC18
4 hyperinsulinemic hypoglycemia, familial, 6 33.2 SLC16A1 KCNJ11 HADH GLUD1 GCK ABCC8
5 hyperinsulinemic hypoglycemia, familial, 3 33.1 H2AC18 GCK
6 hypoglycemia 31.9 SST SLC16A1 KCNJ11 INSR INS IGF2
7 insulinoma 31.3 SST PDX1 MEN1 MAFA INS HNF1A
8 dumping syndrome 31.2 SST INS GCG
9 hyperinsulinism 31.2 SST SLC16A1 LOC110121471 KCNJ11 INSR INS
10 fasting hypoglycemia 31.1 INSR IGF2 GLUD1
11 fetal macrosomia 30.9 INSR INS IGF2
12 neonatal diabetes 30.8 PDX1 KCNJ11 INS GCK ABCC8
13 3-hydroxyacyl-coa dehydrogenase deficiency 30.8 HADH GLUD1 GCK
14 beckwith-wiedemann syndrome 30.8 SLC16A1 MEN1 KCNJ11 INS IGF2 H2AC18
15 asphyxia neonatorum 30.7 SLC16A1 KCNJ11 INS HADH ABCC8
16 islet cell tumor 30.7 SST MEN1 INS IGF2 GCG
17 hyperglycemia 30.7 SST PDX1 KCNJ11 INSR INS HNF4A
18 glucose intolerance 30.6 SST KCNJ11 INSR INS GCK GCG
19 gestational diabetes 30.6 KCNJ11 INSR INS HNF4A HNF1A GCK
20 multiple endocrine neoplasia, type i 30.6 SST PDX1 MEN1 INS H2AC18 GCG
21 factitious disorder 30.6 KCNJ11 INS GCK ABCC8
22 donohue syndrome 30.6 INSR INS GCK
23 gastrointestinal stromal tumor 30.6 SST MEN1 IGF2 HNF4A
24 monogenic diabetes 30.5 PDX1 KCNJ11 INS HNF4A HNF1A GCK
25 abdominal obesity-metabolic syndrome 1 30.5 INSR INS GCK GCG
26 maturity-onset diabetes of the young, type 1 30.4 PDX1 KCNJ11 INS HNF4A HNF1A GCK
27 gastrinoma 30.3 SST MEN1 INS
28 pituitary gland disease 30.3 SST MEN1 INS H2AC18 GCG
29 hypoglycemic coma 30.3 INS IGF2 GCG
30 type 1 diabetes mellitus 30.2 SST PDX1 INSR INS IGF2 HNF4A
31 glycogen storage disease ia 30.2 INS HNF1A GCG
32 type 2 diabetes mellitus 30.2 SST PDX1 KCNJ11 INSR INS IGF2
33 permanent neonatal diabetes mellitus 30.2 PDX1 LOC110121471 KCNJ11 INS HNF4A HNF1A
34 maturity-onset diabetes of the young, type 3 30.2 PDX1 KCNJ11 INS HNF4A HNF1A GCK
35 maturity-onset diabetes of the young, type 2 30.2 PDX1 KCNJ11 INS HNF4A HNF1A GCKR
36 maturity-onset diabetes of the young 30.1 SST SLC16A1 PDX1 MAFA KCNJ11 INSR
37 transient neonatal diabetes mellitus 30.1 PDX1 LOC110121471 KCNJ11 INS IGF2 H2AC18
38 teratoma 30.1 SST INS GCG
39 meckel diverticulum 30.0 SST GCG
40 diabetes mellitus 29.6 SST PMM2 PDX1 MEN1 MAFA LOC110121471
41 hyperinsulinemic hypoglycemia, familial, 5 11.9
42 hyperinsulinemic hypoglycemia, familial, 4 11.9
43 insulinomatosis and diabetes mellitus 11.3
44 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.3
45 diazoxide-resistant diffuse hyperinsulinism 11.2
46 diazoxide-sensitive diffuse hyperinsulinism 11.2
47 hyperinsulinism due to hnf4a deficiency 11.2
48 diazoxide-resistant hyperinsulinism 11.2
49 hyperinsulinism due to ucp2 deficiency 11.2
50 hyperinsulinism due to hnf1a deficiency 11.2

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



Diseases related to Hyperinsulinemic Hypoglycemia
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Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia

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MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 ABCC8 GCK GLUD1 HADH HNF1A HNF4A
2 homeostasis/metabolism MP:0005376 10.25 ABCC8 GCK GCKR GLUD1 HADH HNF1A
3 endocrine/exocrine gland MP:0005379 10.22 ABCC8 GCK GLUD1 HADH HNF1A HNF4A
4 digestive/alimentary MP:0005381 10.03 HNF1A IGF2 INS INSR MEN1 PDX1
5 adipose tissue MP:0005375 10 HADH HNF1A INS INSR KCNJ11 SLC16A1
6 liver/biliary system MP:0005370 10 GCK GCKR HNF1A HNF4A IGF2 INS
7 muscle MP:0005369 9.76 HNF1A IGF2 INS INSR KCNJ11 MEN1
8 no phenotypic analysis MP:0003012 9.56 ABCC8 HNF1A IGF2 INS KCNJ11 MAFA
9 renal/urinary system MP:0005367 9.32 GCK HADH HNF1A HNF4A IGF2 INS
Sources

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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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 Glucagon-Like Peptide 1 Phase 2
4
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
5
Octreotide Approved, Investigational Phase 1 83150-76-9 383414 6400441
6
Lactitol Approved, Investigational Phase 1 585-86-4 157355
7
Exenatide Approved, Investigational Phase 1 141758-74-9 15991534
8 Cardiac Glycosides Phase 1
9 Glycoside Hydrolase Inhibitors Phase 1
10 insulin Phase 1
11 Hypoglycemic Agents Phase 1
12 Insulin, Globin Zinc Phase 1
13 Incretins Phase 1
14 Anti-Obesity Agents Phase 1
15
Insulin aspart Approved 116094-23-6 16132418
16
Canagliflozin Approved 842133-18-0
17
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
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 Adjuvants, Immunologic Early Phase 1
24 Immunologic Factors Early Phase 1
25 DHEA (Dehydroepiandrosterone) Early Phase 1
26 Sodium-Glucose Transporter 2 Inhibitors
27 Nutrients
28 Dihydroxyphenylalanine
29 Dopamine Agents
30 Fluorides
31 Neurotransmitter Agents

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 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
2 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
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 A Phase 2, Open-Label, Cross-over Study to Assess the Safety and Efficacy of Avexitide in Acquired Hyperinsulinemic Hypoglycemia Not yet recruiting NCT04652479 Phase 2 Avexitide
6 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
7 Subcutaneous Injection of Exendin (9-39) in Subjects With Hyperinsulinemic Hypoglycemia Post-Bariatric Surgery Unknown status NCT02996812 Phase 1 Exendin (9-39)
8 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
9 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
10 Visualizing Beta Cells in Patients With Hyperinsulinemic Hypoglycemia After Bariatric Surgery Recruiting NCT03182192 Phase 1
11 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Unknown status NCT03930368
12 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
13 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
14 Hypoglycemia Associated Autonomic Failure in Type 1 DM, Question 3 Completed NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
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 Role of Nutrient Transit and Incretin Hormones in Hyperinsulinemic Hypoglycemia Recruiting NCT04615546
17 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
18 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
19 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

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Genetic Tests for Hyperinsulinemic Hypoglycemia

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Genetic tests related to Hyperinsulinemic Hypoglycemia:

# Genetic test Affiliating Genes
1 Islet Cell Hyperplasia 29
2 Hyperinsulinemic Hypoglycemia 29
Sources

Anatomical Context for Hyperinsulinemic Hypoglycemia

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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

40
Pancreas, Kidney, Pituitary, Liver, Pancreatic Islet, Cortex, Thyroid
Sources

Publications for Hyperinsulinemic Hypoglycemia

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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50) (show all 1259)
# Title Authors PMID Year
1
ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes. 61 6
26246406 2015
2
Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia. 61 6
25972930 2015
3
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 61 6
25117148 2014
4
Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. 61 6
24645945 2014
5
Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia. 61 6
24145932 2013
6
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. 61 6
21716120 2011
7
Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. 6 61
18339976 2008
8
Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism. 61 6
16186397 2005
9
ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. 6 61
12199344 2002
10
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. 61 6
11867634 2002
11
Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinism. 6 61
11999683 2002
12
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. 61 6
11395395 2001
13
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. 6 61
11226335 2001
14
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. 6 61
10993895 2000
15
Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels. 6 61
10720932 2000
16
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. 61 6
10615958 2000
17
The C terminus of SUR1 is required for trafficking of KATP channels. 61 6
10400694 1999
18
Molecular biology of adenosine triphosphate-sensitive potassium channels. 61 6
10204114 1999
19
Clinical features of 52 neonates with hyperinsulinism. 61 6
10202168 1999
20
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. 6 61
10334322 1999
21
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. 6 61
9769320 1998
22
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. 61 6
9648840 1998
23
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. 61 6
8923010 1996
24
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. 6 61
8751851 1996
25
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. 6 61
7716548 1995
26
Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. 6 61
7847376 1995
27
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping. 6
31464105 2019
28
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China 6
31208162 2019
29
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia. 6
30352420 2018
30
Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism. 6
30186238 2018
31
Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years. 6
28270372 2017
32
Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets. 6
28442472 2017
33
Neonatal Diabetes: A Case Series. 6
27889714 2017
34
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. 6
27691052 2016
35
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 6
27908292 2016
36
Clinical whole exome sequencing in early onset diabetes patients. 6
27810688 2016
37
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 6
27682711 2016
38
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. 6
27573238 2016
39
Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease. 6
27334808 2016
40
Clinical and genetic characterization of congenital hyperinsulinism in Spain. 6
27188453 2016
41
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. 6
25639667 2016
42
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. 6
26545876 2016
43
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. 6
26740944 2015
44
Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel. 6
25931474 2015
45
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. 6
26268944 2015
46
Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds. 6
25781672 2015
47
Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. 6
25518065 2015
48
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 6
25720052 2015
49
Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism. 6
25765446 2015
50
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 6
26180531 2015
Sources

Variations for Hyperinsulinemic Hypoglycemia

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ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia:

6 (show top 50) (show all 457)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ11 NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) SNV Pathogenic 211230 rs780957825 GRCh37: 11:17408758-17408758
GRCh38: 11:17387211-17387211
2 KCNJ11 NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro) SNV Pathogenic 8665 rs28936678 GRCh37: 11:17409199-17409199
GRCh38: 11:17387652-17387652
3 KCNJ11 NM_001166290.2(KCNJ11):c.-16-210C>A SNV Pathogenic 8673 rs104894236 GRCh37: 11:17409603-17409603
GRCh38: 11:17388056-17388056
4 KCNJ11 NM_000525.3(KCNJ11):c.-134G>T SNV Pathogenic 8674 rs387906398 GRCh37: 11:17409772-17409772
GRCh38: 11:17388225-17388225
5 KCNJ11 NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu) SNV Pathogenic 8675 rs104894237 GRCh37: 11:17408878-17408878
GRCh38: 11:17387331-17387331
6 KCNJ11 NM_000525.3(KCNJ11):c.776A>G (p.His259Arg) SNV Pathogenic 8677 rs104894248 GRCh37: 11:17408863-17408863
GRCh38: 11:17387316-17387316
7 KCNJ11 NM_000525.3(KCNJ11):c.466G>A (p.Gly156Arg) SNV Pathogenic 8684 rs1404429785 GRCh37: 11:17409173-17409173
GRCh38: 11:17387626-17387626
8 KCNJ11 NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys) SNV Pathogenic 435558 rs766891274 GRCh37: 11:17409233-17409233
GRCh38: 11:17387686-17387686
9 KCNJ11 NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del) Microsatellite Pathogenic 988945 GRCh37: 11:17408745-17408747
GRCh38: 11:17387198-17387200
10 KCNJ11 NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) SNV Pathogenic 8686 rs267607196 GRCh37: 11:17408795-17408795
GRCh38: 11:17387248-17387248
11 ABCC8 NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) SNV Pathogenic 9086 rs387906407 GRCh37: 11:17417157-17417157
GRCh38: 11:17395610-17395610
12 ABCC8 NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val) SNV Pathogenic 18449 rs72559723 GRCh37: 11:17448671-17448671
GRCh38: 11:17427124-17427124
13 ABCC8 , LOC110121471 NM_000352.5(ABCC8):c.2292-1G>A SNV Pathogenic 9090 rs1564905676 GRCh37: 11:17436158-17436158
GRCh38: 11:17414611-17414611
14 ABCC8 NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) SNV Pathogenic 9097 rs137852671 GRCh37: 11:17415842-17415842
GRCh38: 11:17394295-17394295
15 ABCC8 NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) SNV Pathogenic 9099 rs137852672 GRCh37: 11:17485004-17485004
GRCh38: 11:17463457-17463457
16 ABCC8 NM_000352.4(ABCC8):c.-190C>G SNV Pathogenic 9101 rs1395224084 GRCh37: 11:17498513-17498513
GRCh38: 11:17476966-17476966
17 ABCC8 NM_000352.4:c.(?_1818)_(1923_?)del Deletion Pathogenic 39470 GRCh37:
GRCh38:
18 ABCC8 NM_000352.6(ABCC8):c.512dup (p.Thr172fs) Duplication Pathogenic 39471 rs1564980510 GRCh37: 11:17485051-17485052
GRCh38: 11:17463504-17463505
19 ABCC8 NM_000352.6(ABCC8):c.1333-1013A>G SNV Pathogenic 39472 GRCh37: 11:17465872-17465872
GRCh38: 11:17444325-17444325
20 ABCC8 NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) SNV Pathogenic 9094 rs28936370 GRCh37: 11:17418527-17418527
GRCh38: 11:17396980-17396980
21 ABCC8 NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) Deletion Pathogenic 157696 rs587783169 GRCh37: 11:17426107-17426107
GRCh38: 11:17404560-17404560
22 ABCC8 NM_000352.5(ABCC8):c.2117-1G>A SNV Pathogenic 210072 rs797045207 GRCh37: 11:17448702-17448702
GRCh38: 11:17427155-17427155
23 ABCC8 NM_001287174.2(ABCC8):c.1630+1G>T SNV Pathogenic 370604 rs773306994 GRCh37: 11:17464266-17464266
GRCh38: 11:17442719-17442719
24 ABCC8 NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter) Duplication Pathogenic 371346 rs1057517199 GRCh37: 11:17483367-17483368
GRCh38: 11:17461820-17461821
25 ABCC8 NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) SNV Pathogenic 370163 rs1057516281 GRCh37: 11:17419891-17419891
GRCh38: 11:17398344-17398344
26 ABCC8 , LOC110121471 NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs) Indel Pathogenic 434054 rs1554917411 GRCh37: 11:17436142-17436154
GRCh38: 11:17414595-17414607
27 ABCC8 NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) SNV Pathogenic 434056 rs139328569 GRCh37: 11:17452386-17452386
GRCh38: 11:17430839-17430839
28 ABCC8 NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg) SNV Pathogenic 434044 rs1554904102 GRCh37: 11:17415908-17415908
GRCh38: 11:17394361-17394361
29 ABCC8 NM_000352.6(ABCC8):c.1752del (p.His584fs) Deletion Pathogenic 434060 rs1554926539 GRCh37: 11:17452426-17452426
GRCh38: 11:17430879-17430879
30 ABCC8 NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) Duplication Pathogenic 434055 rs768951263 GRCh37: 11:17470110-17470111
GRCh38: 11:17448563-17448564
31 ABCC8 NM_000352.6(ABCC8):c.1634del (p.Phe545fs) Deletion Pathogenic 446765 rs1260178539 GRCh37: 11:17453788-17453788
GRCh38: 11:17432241-17432241
32 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) SNV Pathogenic 495834 rs72559734 GRCh37: 11:17496502-17496502
GRCh38: 11:17474955-17474955
33 ABCC8 NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) SNV Pathogenic 633027 rs1564977373 GRCh37: 11:17483257-17483257
GRCh38: 11:17461710-17461710
34 ABCC8 NM_000352.6(ABCC8):c.598del (p.Thr200fs) Deletion Pathogenic 802661 rs1591890137 GRCh37: 11:17483354-17483354
GRCh38: 11:17461807-17461807
35 ABCC8 NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) SNV Pathogenic 217846 rs863225280 GRCh37: 11:17483269-17483269
GRCh38: 11:17461722-17461722
36 ABCC8 NM_001287174.2(ABCC8):c.3871-1G>A SNV Pathogenic 552652 rs766431403 GRCh37: 11:17418861-17418861
GRCh38: 11:17397314-17397314
37 ABCC8 NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter) SNV Pathogenic 585343 rs755259997 GRCh37: 11:17428490-17428490
GRCh38: 11:17406943-17406943
38 ABCC8 NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) SNV Pathogenic 585351 rs72559730 GRCh37: 11:17483210-17483210
GRCh38: 11:17461663-17461663
39 ABCC8 NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn) SNV Pathogenic 977924 GRCh37: 11:17432200-17432200
GRCh38: 11:17410653-17410653
40 ABCC8 NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) SNV Pathogenic 632619 rs367850779 GRCh37: 11:17424217-17424217
GRCh38: 11:17402670-17402670
41 ABCC8 NM_000352.6(ABCC8):c.3989-9G>A SNV Pathogenic 9088 rs151344623 GRCh37: 11:17418602-17418602
GRCh38: 11:17397055-17397055
42 ABCC8 NM_000352.6(ABCC8):c.4154_4156CCT[1] (p.Ser1386del) Microsatellite Pathogenic 9100 rs387906408 GRCh37: 11:17417438-17417440
GRCh38: 11:17395891-17395893
43 ABCC8 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) Deletion Pathogenic 196880 rs151344624 GRCh37: 11:17417435-17417437
GRCh38: 11:17395888-17395890
44 ABCC8 NM_000352.5(ABCC8):c.4119+1G>A SNV Pathogenic 210078 rs797045211 GRCh37: 11:17418462-17418462
GRCh38: 11:17396915-17396915
45 ABCC8 NM_000352.6(ABCC8):c.1879del (p.His627fs) Deletion Pathogenic 370909 rs764613146 GRCh37: 11:17450156-17450156
GRCh38: 11:17428609-17428609
46 ABCC8 NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) SNV Pathogenic 434053 rs769518471 GRCh37: 11:17428605-17428605
GRCh38: 11:17407058-17407058
47 ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) SNV Pathogenic 188915 rs72559722 GRCh37: 11:17434263-17434263
GRCh38: 11:17412716-17412716
48 ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) SNV Pathogenic/Likely pathogenic 188915 rs72559722 GRCh37: 11:17434263-17434263
GRCh38: 11:17412716-17412716
49 ABCC8 NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) Deletion Pathogenic/Likely pathogenic 280115 rs886041392 GRCh37: 11:17428448-17428467
GRCh38: 11:17406901-17406920
50 ABCC8 NM_000352.6(ABCC8):c.2833_2834GA[1] (p.Arg946fs) Microsatellite Pathogenic/Likely pathogenic 556981 rs1554913069 GRCh37: 11:17428983-17428986
GRCh38: 11:17407436-17407439
Sources

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 HNF1A
3
Integration of energy metabolism 65
Show member pathways
 12.1 KCNJ11 INS GCG ABCC8
4
Hepatic ABC Transporters 63
Show member pathways
 11.89 PDX1 INSR INS HNF4A HNF1A GCK
5
Regulation of beta-cell development 65
Show member pathways
 11.73 PDX1 MAFA INS HNF4A HNF1A GCK
6
Type II diabetes mellitus 36 1
Show member pathways
 11.26 PDX1 MAFA KCNJ11 INSR INS HNF4A
7
FOXA2 and FOXA3 transcription factor networks 1
11.2 PDX1 KCNJ11 INS HNF4A HNF1A HADH
8
Signal attenuation 65
Show member pathways
 10.66 INSR INS
9
Dichloroethylene metabolism 23
10.31 HNF4A HNF1A
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 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 9.89 SST PDX1 KCNJ11 HADH ABCC8
3 carbohydrate metabolic process GO:0005975 9.77 INSR INS IGF2 GCKR GCK
4 insulin receptor signaling pathway GO:0008286 9.74 INSR INS IGF2
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 response to glucose GO:0009749 9.62 PDX1 MAFA HNF4A HNF1A
9 insulin secretion GO:0030073 9.61 PDX1 MAFA HNF1A
10 inorganic cation transmembrane transport GO:0098662 9.58 KCNJ11 ABCC8
11 positive regulation of mitotic nuclear division GO:0045840 9.58 INSR INS IGF2
12 neuron projection maintenance GO:1990535 9.56 INSR INS
13 type B pancreatic cell differentiation GO:0003309 9.55 PDX1 MEN1
14 positive regulation of respiratory burst GO:0060267 9.54 INSR INS
15 exocrine pancreas development GO:0031017 9.52 PDX1 IGF2
16 regulation of insulin secretion GO:0050796 9.5 SLC16A1 KCNJ11 HNF4A HADH GCK GCG
17 detection of glucose GO:0051594 9.48 PDX1 GCK
18 positive regulation of glycogen biosynthetic process GO:0045725 9.46 INSR INS IGF2 GCK
19 glucose homeostasis GO:0042593 9.28 SLC16A1 PDX1 INSR INS HNF4A HNF1A

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

Sources for Hyperinsulinemic Hypoglycemia

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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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