MCID: HYP050
MIFTS: 55

Hyperinsulinemic Hypoglycemia

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia:

Name: Hyperinsulinemic Hypoglycemia 12 28 14 69
Nesidioblastosis 12 41 69
Islet Cell Hyperplasia 12 28
Persistent Hyperinsulinemia Hypoglycemia of Infancy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13317
ICD10 32 E16.9
MeSH 41 D046768
NCIt 46 C4375

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 nesidioblastosis, is related to hyperinsulinemic hypoglycemia, familial, 3 and hyperinsulinemic hypoglycemia, familial, 5. An important gene associated with Hyperinsulinemic Hypoglycemia is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways/superpathways are Aldosterone synthesis and secretion and AMP-activated Protein Kinase (AMPK) Signaling. The drugs lanreotide and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include pancreas, pancreatic islet and brain, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Wikipedia : 72 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 130)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 3 34.5 ABCC8 GCK
2 hyperinsulinemic hypoglycemia, familial, 5 34.5 ABCC8 INSR
3 hyperinsulinemic hypoglycemia, familial, 4 34.5 ABCC8 HADH
4 hyperinsulinemic hypoglycemia, familial, 2 32.6 ABCC8 HNF4A INS KCNJ11 SST
5 insulin autoimmune syndrome 30.1 INS INSR
6 hypoglycemia 30.0 ABCC8 GCK GLUD1 HADH INS INSR
7 fetal macrosomia 29.9 INS INSR
8 dumping syndrome 29.8 INS SST
9 glucose intolerance 29.6 GCK INS INSR
10 gestational diabetes 29.3 GCK INS INSR KCNJ11
11 insulinoma 29.2 ABCC8 GCK INS MEN1 SST
12 maturity-onset diabetes of the young 28.9 ABCC8 GCK HNF4A INS KCNJ11
13 diabetes mellitus 27.9 ABCC8 GCK HNF4A INS INSR KCNJ11
14 hyperinsulinism 26.8 ABCC8 GCK GLUD1 HADH HNF4A INS
15 hyperinsulinemic hypoglycemia, familial, 1 12.7
16 hyperinsulinemic hypoglycemia, familial, 7 12.7
17 hyperinsulinemic hypoglycemia, familial, 6 12.5
18 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 12.1
19 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.2
20 hyperinsulinism due to hnf4a deficiency 11.1
21 hyperinsulinism due to ucp2 deficiency 11.1
22 hyperinsulinism due to hnf1a deficiency 11.1
23 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.1
24 microcephaly, short stature, and impaired glucose metabolism 1 11.1
25 pancreatitis 10.5
26 cardiomyopathy, dilated, 1o 10.4 ABCC8 KCNJ11
27 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.4 ABCC8 KCNJ11
28 usher syndrome, type ic 10.4 ABCC8 KCNJ11
29 cantu syndrome 10.3 ABCC8 KCNJ11
30 woodhouse-sakati syndrome 10.3 KCNJ11 MEN1
31 fasting hypoglycemia 10.3 GLUD1 INSR
32 fanconi-bickel syndrome 10.3 ABCC8 INS
33 maturity-onset diabetes of the young, type 2 10.2 GCK INS
34 munchausen by proxy 10.2 ABCC8 GCK KCNJ11
35 monocarboxylate transporter 1 deficiency 10.2 GLUD1 INS
36 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.2 INS INSR
37 donohue syndrome 10.1 INS INSR
38 carbohydrate metabolic disorder 10.1 ABCC8 INS
39 lutheran suppressor, x-linked 10.1 INS INSR
40 hepatitis 10.1
41 alstrom syndrome 10.1 INS KCNJ11
42 critical illness polyneuropathy 10.1 GCK INS
43 acute insulin response 10.1 ABCC8 INS KCNJ11
44 diabetes mellitus, transient neonatal, 1 10.1 ABCC8 INS KCNJ11
45 pancreatic somatostatinoma 10.0 MEN1 SST
46 hormone producing pituitary cancer 10.0 MEN1 SST
47 duodenal somatostatinoma 10.0 INS SST
48 postgastrectomy syndrome 10.0 INS SST
49 postural hypotension 10.0 INS SST
50 hyperpituitarism 10.0 INS SST

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



Diseases related to Hyperinsulinemic Hypoglycemia

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia

MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.86 MEN1 ABCC8 GCK GLUD1 HADH INS
2 growth/size/body region MP:0005378 9.81 MEN1 SST GCK GLUD1 HADH HNF4A
3 homeostasis/metabolism MP:0005376 9.65 MEN1 ABCC8 SST GCK GLUD1 HADH
4 liver/biliary system MP:0005370 9.02 MEN1 GCK HNF4A INS INSR

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 lanreotide Approved Phase 4 108736-35-2
2
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 1 83150-76-9 6400441 383414
3
Somatostatin Approved, Investigational Phase 4,Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
4
Acarbose Approved, Investigational Phase 4,Phase 2 56180-94-0 441184
5
Liraglutide Approved Phase 4 204656-20-2 44147092
6
Verapamil Approved Phase 4 52-53-9 2520
7 Angiopeptin Phase 4
8 Hormone Antagonists Phase 4,Phase 1,Phase 2,Early Phase 1
9 Hormones Phase 4,Phase 1,Phase 2,Early Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Early Phase 1
11 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
12 Incretins Phase 4,Phase 1,Phase 2,Early Phase 1
13 Vasodilator Agents Phase 4,Phase 2,Phase 3
14 Anti-Arrhythmia Agents Phase 4,Early Phase 1
15 Cardiac Glycosides Phase 4,Phase 2
16 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
17 calcium channel blockers Phase 4
18 Calcium, Dietary Phase 4
19 Dipeptidyl-Peptidase IV Inhibitors Phase 4
20 HIV Protease Inhibitors Phase 4
21
protease inhibitors Phase 4
22 Sitagliptin Phosphate Phase 4
23
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
24
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
25 Antihypertensive Agents Phase 2, Phase 3
26 Dihydroxyphenylalanine Phase 3,Phase 2,Phase 1
27 Dopamine Agents Phase 3,Phase 2,Phase 1
28 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Early Phase 1
29
Exenatide Approved, Investigational Phase 1, Phase 2, Early Phase 1 141758-74-9 15991534
30
Pancrelipase Approved, Investigational Phase 2 53608-75-6
31
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
32
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
33
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
34
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
35 tannic acid Approved, Nutraceutical Phase 1, Phase 2
36 glucagon Phase 1, Phase 2, Early Phase 1
37 Glucagon-Like Peptide 1 Phase 1, Phase 2, Early Phase 1
38 insulin Phase 1, Phase 2,Early Phase 1
39 Insulin, Globin Zinc Phase 1, Phase 2,Early Phase 1
40 Antineoplastic Agents, Hormonal Phase 2
41 Gastrointestinal Agents Phase 2,Early Phase 1
42 pancreatin Phase 2
43 Blood Substitutes Phase 1, Phase 2
44 Plasma Substitutes Phase 1, Phase 2
45 Polygeline Phase 1, Phase 2
46 Radiopharmaceuticals Phase 1, Phase 2
47 Pharmaceutical Solutions Phase 2
48 Anti-Bacterial Agents Phase 1, Phase 2
49 Antibiotics, Antitubercular Phase 1, Phase 2
50 Antifungal Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 36)

# Name Status NCT ID Phase Drugs
1 Lanreotide Autogel Treatment of Patients With Congenital Hyperinsulinism of Infancy Unknown status NCT01070758 Phase 4 Lanreotide autogel
2 Treatment of Hypoglycemia Following Gastric Bypass Surgery Enrolling by invitation NCT02527993 Phase 4 Glucobay (acarbose);Januvia (sitagliptin);Verapamil HEXAL (verapamil);Victoza (liraglutide);Signifor (pasireotide)
3 Diazoxide In the Management Of Hypoglycemic Neonates Unknown status NCT00994149 Phase 2, Phase 3 Diazoxide;Ora-plus
4 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
5 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
6 A Single-Dose Open-Label Study of XOMA 358 in Subjects With Congenital Hyperinsulinism Completed NCT02604485 Phase 2 Cohort 1;Cohort 2;Cohort 3;Cohort 4
7 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
8 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
9 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Completed NCT00674440 Phase 2 F-DOPA
10 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
11 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
12 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Recruiting NCT02685852 Phase 2 Exenatide;Acarbose;Placebo
13 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Recruiting NCT02937558 Phase 2 Glucagon
14 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, Phase 2 exendin-(9-39)
15 Sirolimus for the Treatment of Hyperinsulinism Recruiting NCT02524639 Phase 1, Phase 2 Sirolimus
16 Efficacy, Tolerability and Pharmacokinetics of Subcutaneous Exendin (9-39) in Patients With Post Bariatric Hypoglycemia Recruiting NCT02771574 Phase 2 Exendin (9-39)
17 68Ga-NODAGA-exendin-4 PET/CT for Diagnostic Imaging in AHH Enrolling by invitation NCT03189953 Phase 1, Phase 2
18 Pasireotide in Hyperinsulinemic Hypoglycemia Not yet recruiting NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
19 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
20 Fluorodopa F 18 in Congenital Hyperinsulinism Recruiting NCT02021604 Phase 1 Fluorodopa F 18
21 GLP1R-imaging in Hypoglycemia Recruiting NCT03182192 Phase 1
22 Role of GLP-1 in Hyperinsulinemic Hypoglycemia Post-bariatric Surgery Recruiting NCT02550145 Phase 1 Exendin (9-39)
23 Evaluation of Single Ascending Doses of Subcutaneous Exendin 9-39 in Patients With Post-Bariatric Hypoglycemia Active, not recruiting NCT02996812 Phase 1 Exendin (9-39)
24 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
25 Etiology, Assessment and Treatment of Post-gastric Bypass Severe Hypoglycemia Unknown status NCT01865760 Octreotide;Synthetic Exendin 9-39
26 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
27 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
28 Post-Gastric Bypass Hypoglycemia Completed NCT01933490
29 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541
30 Adrenergic System in Islet Transplantation Recruiting NCT03079921 Phentolamine;Propranolol;Placebo
31 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Recruiting NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
32 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
33 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
34 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
35 Bionic Pancreas in Children With Hyperinsulinism and Post-Pancreatectomy Diabetes Not yet recruiting NCT03303196
36 Role of Neural and Hormonal Regulation Factors on Insulin Secretion After Gastric Bypass Surgery Suspended NCT00992901 Early Phase 1 Exendin-(9-39);Atropine;GLP-1 and GIP

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 28 KCNJ11
2 Hyperinsulinemic Hypoglycemia 28

Anatomical Context for Hyperinsulinemic Hypoglycemia

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

38
Pancreas, Pancreatic Islet, Brain, B Cells, Testes, Liver, Kidney

Publications for Hyperinsulinemic Hypoglycemia

Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50) (show all 279)
# Title Authors Year
1
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy. ( 29355723 )
2018
2
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. ( 29087246 )
2017
3
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28672750 )
2017
4
Selective Arterial Calcium Stimulation with Hepatic Venous Sampling in Patients with Recurrent Endogenous Hyperinsulinemic Hypoglycemia and Metastatic Insulinoma: Evaluation in Five Patients. ( 29157479 )
2017
5
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia: RETRACTED. ( 28288081 )
2017
6
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. ( 28102591 )
2017
7
Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia. ( 28715810 )
2017
8
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28693122 )
2017
9
Portosystemic shunt as a cause of congenital hyperinsulinemic hypoglycemia. ( 28401743 )
2017
10
Hyperinsulinemic hypoglycemia after gastric bypass surgery: what's up and what's down? ( 29087389 )
2017
11
Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia. ( 28458896 )
2017
12
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. ( 28656511 )
2017
13
"Riding High on Low Fuel" - Our Experience with Endogenous Hyperinsulinemic Hypoglycemia. ( 28989869 )
2017
14
Sirolimus-Induced Hepatitis in Two Cases with Hyperinsulinemic Hypoglycemia. ( 29217498 )
2017
15
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. ( 28373276 )
2017
16
Is testing for postprandial hyperinsulinemic hypoglycemia after gastric bypass necessary? ( 29208421 )
2017
17
ASMBS Position Statement on Postprandial Hyperinsulinemic Hypoglycemia after Bariatric Surgery. ( 28110984 )
2017
18
Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey. ( 27181376 )
2016
19
Incidence and Predictive Factors of Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y Gastric Bypass: A Five year Longitudinal Study. ( 27560624 )
2016
20
Hyperinsulinemic hypoglycemia associated with insulin antibodies caused by exogenous insulin analog. ( 27933175 )
2016
21
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia. ( 26882312 )
2016
22
Single incision laparoscopic 90A % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
23
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms. ( 27065949 )
2016
24
One-Anastomosis Jejunal Interposition with Gastric Remnant Resection (Branco-Zorron Switch) for Severe Recurrent Hyperinsulinemic Hypoglycemia after Gastric Bypass for Morbid Obesity. ( 27738969 )
2016
25
Synchronous Nesidioblastosis, Endocrine Microadenoma, and Intraductal Papillary Mucinous Neoplasia in a Man Presenting With Hyperinsulinemic Hypoglycemia. ( 26658039 )
2016
26
Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings. ( 27771675 )
2016
27
Safety and tolerability of diazoxide in Japanese patients with hyperinsulinemic hypoglycemia. ( 26598136 )
2016
28
Hyperinsulinemic Hypoglycemia after Bariatric Surgery: Diagnosis and Management Experience from a Spanish Multicenter Registry. ( 26901345 )
2016
29
Assessment of Nifedipine therapy in Hyperinsulinemic Hypoglycemia due to mutations in the ABCC8 gene. ( 27898257 )
2016
30
Postprandial hyperinsulinemic hypoglycemia after Roux-en-Y gastric bypass: an update. ( 27865808 )
2016
31
Clinical features and causes of endogenous hyperinsulinemic hypoglycemia in Korea. ( 25922806 )
2015
32
Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia. ( 25972930 )
2015
33
Hyperinsulinemic Hypoglycemia. ( 26210630 )
2015
34
Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy. ( 26331229 )
2015
35
Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene. ( 25781533 )
2015
36
Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients. ( 25871929 )
2015
37
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. ( 26572961 )
2015
38
A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome. ( 25712828 )
2015
39
Hyperinsulinemic Hypoglycemia in Infancy: Current Concepts in Diagnosis and Management. ( 26713990 )
2015
40
Severe Hyperinsulinemic Hypoglycemia in a Neonate: Response to Sirolimus Therapy. ( 26504129 )
2015
41
Experience of Octreotide Therapy for Hyperinsulinemic Hypoglycemia in Neonates Born Small for Gestational Age: A Case Series. ( 26448570 )
2015
42
Pathological aspects underlying pancreatogenous hyperinsulinemic hypoglycemia - report of three cases. ( 25826512 )
2015
43
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. ( 26316438 )
2015
44
Recognition and management of hyperinsulinemic hypoglycemia after bariatric surgery. ( 26522879 )
2015
45
Persistent hyperinsulinemic hypoglycemia of infancy: a clinical and pathological study of 19 cases in a single institution. ( 26823758 )
2015
46
Post-Gastric Bypass Hyperinsulinemic Hypoglycemia: Fructose is a Carbohydrate Which Can Be Safely Consumed. ( 26037514 )
2015
47
Hyperinsulinemic hypoglycemia syndrome associated with mutations in the human insulin receptor gene: Report of two cases. ( 25753915 )
2015
48
Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation. ( 26487424 )
2015
49
Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children. ( 26490124 )
2015
50
Endogenous hyperinsulinemic hypoglycemia syndrome: surgical treatment. ( 24491350 )
2014

Variations for Hyperinsulinemic Hypoglycemia

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh38 Chromosome 11, 17387248: 17387248
2 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh37 Chromosome 11, 17409199: 17409199
3 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh37 Chromosome 11, 17409603: 17409603
4 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
5 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
6 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh37 Chromosome 11, 17408863: 17408863
7 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
8 KCNJ11 KCNJ11, GLY156ARG undetermined variant Pathogenic
9 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
10 KCNJ11 NM_000525.3(KCNJ11): c.406C> T (p.Arg136Cys) single nucleotide variant Pathogenic rs766891274 GRCh38 Chromosome 11, 17387686: 17387686

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 ABCC8 GCK INS KCNJ11
2
Show member pathways
12.1 HNF4A INS INSR
3 12.04 GLUD1 HNF4A INS INSR
4
Show member pathways
11.97 ABCC8 INS KCNJ11
5
Show member pathways
11.55 GCK HNF4A INS INSR
6
Show member pathways
11.5 GCK HNF4A INS
7
Show member pathways
11.42 ABCC8 GCK HNF4A INS INSR KCNJ11
8 11.13 INS INSR
9
Show member pathways
11.1 INS INSR
10 11.02 INS INSR
11 10.87 INS INSR
12 10.74 ABCC8 GCK HADH HNF4A INS KCNJ11

GO Terms for Hyperinsulinemic Hypoglycemia

Cellular components related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.73 ABCC8 HADH KCNJ11 SST
2 carbohydrate metabolic process GO:0005975 9.72 GCK INS INSR
3 positive regulation of insulin secretion GO:0032024 9.58 GCK GLUD1
4 positive regulation of nitric oxide biosynthetic process GO:0045429 9.57 INS INSR
5 positive regulation of DNA replication GO:0045740 9.56 INS INSR
6 activation of protein kinase B activity GO:0032148 9.54 INS INSR
7 positive regulation of glucose import GO:0046326 9.52 INS INSR
8 positive regulation of mitotic nuclear division GO:0045840 9.51 INS INSR
9 glucose metabolic process GO:0006006 9.5 GCK INS KCNJ11
10 positive regulation of glycolytic process GO:0045821 9.49 INS INSR
11 cellular glucose homeostasis GO:0001678 9.48 ABCC8 GCK
12 negative regulation of gluconeogenesis GO:0045721 9.46 GCK INS
13 glucose homeostasis GO:0042593 9.46 GCK HNF4A INS INSR
14 negative regulation of insulin secretion GO:0046676 9.43 ABCC8 HADH KCNJ11
15 positive regulation of respiratory burst GO:0060267 9.4 INS INSR
16 neuron projection maintenance GO:1990535 9.37 INS INSR
17 positive regulation of glycogen biosynthetic process GO:0045725 9.13 GCK INS INSR
18 regulation of insulin secretion GO:0050796 8.92 ABCC8 GCK HNF4A KCNJ11

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

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

Sources for Hyperinsulinemic Hypoglycemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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