MCID: HYP050
MIFTS: 55

Hyperinsulinemic Hypoglycemia

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia:

Name: Hyperinsulinemic Hypoglycemia 12 29 14 69
Nesidioblastosis 12 52 42 69
Islet Cell Hyperplasia 12 29
Persistent Hyperinsulinemia Hypoglycemia of Infancy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13317
ICD10 33 E16.9
MeSH 42 D046768
NCIt 47 C4375
UMLS 69 C0027773

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, 4 and hyperinsulinemic hypoglycemia, familial, 2. An important gene associated with Hyperinsulinemic Hypoglycemia is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways/superpathways are AMP-activated Protein Kinase (AMPK) Signaling and Glucose / Energy Metabolism. The drugs Insulin Glargine and Zinc have been mentioned in the context of this disorder. Affiliated tissues include brain, pancreas and endothelial, 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, 7 Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic Hypoglycemia, Familial, 2 Hyperinsulinemic Hypoglycemia, Familial, 5

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

(show top 50) (show all 117)
id Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 4 33.0 GCK GLUD1 HADH INS
2 hyperinsulinemic hypoglycemia, familial, 2 12.4
3 hyperinsulinemic hypoglycemia, familial, 7 12.4
4 hyperinsulinemic hypoglycemia, familial, 1 12.4
5 hyperinsulinemic hypoglycemia, familial, 3 12.4
6 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 12.0
7 hyperinsulinism-hyperammonemia syndrome 11.8
8 pancreatic neuroendocrine tumor 11.3
9 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.1
10 hypoglycemia 11.0
11 hyperinsulinism due to hnf1a deficiency 11.0
12 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.0
13 familial hyperinsulinsism 11.0
14 insr-related hyperinsulinism 11.0
15 slc16a1-related hyperinsulinism 11.0
16 hyperinsulinism due to hnf4a deficiency 11.0
17 hyperinsulinism due to ucp2 deficiency 11.0
18 microcephaly, short stature, and impaired glucose metabolism 1 11.0
19 atrial fibrillation, familial, 12 10.6 ABCC8 KCNJ11
20 diabetes mellitus, permanent neonatal 10.6 ABCC8 GCK
21 hyperphosphatasia with mental retardation syndrome 6 10.6 ABCC8 HADH
22 noonan syndrome 2 10.5 ABCC8 KCNJ11
23 palmoplantar keratoderma and woolly hair 10.5 ABCC8 INSR
24 deafness, autosomal recessive 18a 10.5 ABCC8 KCNJ11
25 pancreatitis 10.4
26 retinitis pigmentosa 68 10.4 ABCC8 INS
27 image syndrome 10.3 GLUD1 INS
28 writing disorder 10.3 ABCC8 GCK KCNJ11
29 intellectual deficit buenos-aires type 10.3 INS INSR
30 monocarboxylate transporter 1 deficiency 10.3 GLUD1 INS
31 hyperlipoproteinemia, type ib 10.2 INS INSR
32 breast fibroadenoma 10.2 IGF2 INS
33 insulinoma 10.2
34 familial papillary thyroid carcinoma 10.2 ABCC8 HNF4A
35 perinephritis 10.2 ABCC8 INS
36 hemoglobin zurich 10.1 ABCC8 IGF2 KCNJ11
37 hyperphosphatasia with mental retardation syndrome 3 10.1 IGF2 INS
38 acute insulin response 10.1 ABCC8 INS KCNJ11
39 dracunculiasis 10.1 GCK INS
40 glomerulosclerosis, focal segmental, 1 10.1 INS INSR
41 nephronophthisis 19 10.1 ABCC8 INS KCNJ11
42 pandas 10.1 INS SST
43 cervical keratinizing squamous cell carcinoma 10.1 INS SST
44 intestinal volvulus 10.1 INS SST
45 repetitive stress injuries 10.1 INS SST
46 algoneurodystrophy 10.1 IGF2 INS
47 maturity-onset diabetes of the young 10.0
48 spinal muscular atrophy 10.0 INS SST
49 protein s deficiency 10.0 INS SST
50 peripheral degeneration of cornea 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.97 IGF2 INS INSR KCNJ11 ABCC8 GCK
2 growth/size/body region MP:0005378 9.97 GCK GLUD1 HADH HNF4A IGF2 INS
3 homeostasis/metabolism MP:0005376 9.96 ABCC8 GCK GLUD1 HADH HNF4A IGF2
4 liver/biliary system MP:0005370 9.55 GCK HNF4A IGF2 INS INSR
5 no phenotypic analysis MP:0003012 9.35 ABCC8 IGF2 INS KCNJ11 SST
6 renal/urinary system MP:0005367 9.02 GCK HADH IGF2 INS INSR

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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

(show top 50) (show all 112)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Insulin Glargine Approved Phase 4 160337-95-1
2
Zinc Approved Phase 4,Early Phase 1 7440-66-6 32051 23994
3
Metformin Approved Phase 4 657-24-9 14219 4091
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 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
8 insulin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Insulin, Globin Zinc Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 Gastrointestinal Agents Phase 4,Phase 2,Early Phase 1
11 glucagon Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
12 Glucagon-Like Peptide 1 Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
13 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Incretins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Vasodilator Agents Phase 4,Phase 2,Phase 3
18 Dipeptidyl-Peptidase IV Inhibitors Phase 4,Phase 3
19 gastric inhibitory polypeptide Phase 4
20 HIV Protease Inhibitors Phase 4,Phase 3
21
protease inhibitors Phase 4,Phase 3
22 Sitagliptin Phosphate Phase 4
23 Anti-Arrhythmia Agents Phase 4,Early Phase 1
24 Cardiac Glycosides Phase 4,Phase 2
25 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
26 calcium channel blockers Phase 4
27 Calcium, Dietary Phase 4
28
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
29
Saxagliptin Approved Phase 3 361442-04-8 11243969
30
Exenatide Approved, Investigational Phase 2, Phase 3, Phase 1 141758-74-9 15991534
31 Antihypertensive Agents Phase 2, Phase 3
32
Somatostatin Approved Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
33
Octreotide Approved, Investigational Phase 2,Phase 1 83150-76-9 383414 6400441
34
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
35
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
36
Pancrelipase Approved Phase 2 53608-75-6
37 Neurotransmitter Agents Phase 2,Early Phase 1
38 Antidotes Phase 1, Phase 2
39 Anti-Infective Agents Phase 1, Phase 2
40 Antioxidants Phase 1, Phase 2
41 Antiviral Agents Phase 1, Phase 2
42 Expectorants Phase 1, Phase 2
43 N-monoacetylcystine Phase 1, Phase 2
44 Protective Agents Phase 1, Phase 2
45 Respiratory System Agents Phase 1, Phase 2,Early Phase 1
46 Pharmaceutical Solutions Phase 2
47 Dihydroxyphenylalanine Phase 2
48 Dopamine Agents Phase 2
49 pancreatin Phase 2
50 cysteine Nutraceutical Phase 1, Phase 2

Interventional clinical trials:

(show all 47)

id Name Status NCT ID Phase Drugs
1 Prevention of Severe Hypoglycemia in Type 1 Diabetes Completed NCT00360984 Phase 4 insulin glargine
2 Sitagliptin and Glucagon Counterregulation Completed NCT02256189 Phase 4 Sitagliptin;Placebo
3 Treatment of Hypoglycemia Following Gastric Bypass Surgery Enrolling by invitation NCT02527993 Phase 4 Glucobay (acarbose);Januvia (sitagliptin);Verapamil HEXAL (verapamil);Victoza (liraglutide);Signifor (pasireotide)
4 Diazoxide In the Management Of Hypoglycemic Neonates Unknown status NCT00994149 Phase 2, Phase 3 Diazoxide;Ora-plus
5 DPP4inhibitors in Type 1 Diabetes Completed NCT01922817 Phase 3 Saxagliptin
6 New Imaging Procedure for the Localisation of Insulinoma and Transplanted Islet Cells Recruiting NCT02127541 Phase 2, Phase 3
7 Exenatide and Impaired Hypoglycaemic Awareness in Type 1 Diabetes Recruiting NCT02735031 Phase 2, Phase 3 Exenatide;Placebo
8 Study to Assess Safety and Efficacy of sc Pasireotide in Patients With Dumping Syndrome Completed NCT01895296 Phase 2 Pasireotide;Placebo
9 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Recruiting NCT02685852 Phase 2 Exenatide;Acarbose;Placebo
10 Efficacy, Tolerability and Pharmacokinetics of Subcutaneous Exendin (9-39) in Patients With Post Bariatric Hypoglycemia Recruiting NCT02771574 Phase 2 Exendin (9-39)
11 A Randomized Double Blinded Study to Examine the Use of N-acetyl Cysteine for the Prevention and Treatment of HAAF in Patients With Type 1 Diabetes Recruiting NCT02206152 Phase 1, Phase 2 N-acetyl cysteine;Placebo
12 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Active, not recruiting NCT01468454 Phase 2 18 F-DOPA
13 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Active, not recruiting NCT00674440 Phase 2 F-DOPA
14 68Ga-NODAGA-exendin-4 PET/CT for Diagnostic Imaging in AHH Enrolling by invitation NCT03189953 Phase 1, Phase 2
15 Pasireotide in Hyperinsulinemic Hypoglycemia Not yet recruiting NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
16 Efficacy of Small Subcutaneous Glucagon Dose to Treat Hypoglycemia in Adults With Type 1 Diabetes Withdrawn NCT01828125 Phase 2 Glucagon
17 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
18 GLP1R-imaging in Hypoglycemia Recruiting NCT03182192 Phase 1
19 Role of GLP-1 in Hyperinsulinemic Hypoglycemia Post-bariatric Surgery Recruiting NCT02550145 Phase 1 Exendin (9-39)
20 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)
21 Etiology, Assessment and Treatment of Post-gastric Bypass Severe Hypoglycemia Unknown status NCT01865760 Octreotide;Synthetic Exendin 9-39
22 Post-Gastric Bypass Hypoglycemia Completed NCT01933490
23 Metabolic Causes of Thrombosis in Type 2 Diabetes - Question 4 Completed NCT00574340 Early Phase 1
24 Sympathetic Nerve Activity During Hypoglycemia and Exercise Completed NCT00608348
25 The Effects of Hypoglycaemia in People With Type 2 Diabetes Completed NCT02205996 Insulin (Humulin S)
26 Counter-Regulatory Impairment and the Effect of Microvascular Insulin Transfer in Type 1 Diabetes Mellitus Completed NCT00943787
27 Hypoglycemia Associated Autonomic Failure in Type 1 DM, Q2 Completed NCT00592332 Alprazolam
28 The Impact of Renin-angiotensin System on Brain Activation During Hypoglycaemia in Healthy Men, a PET Study Completed NCT00264641 Human insulin
29 Mechanisms of Hypoglycemia Associated Autonomic Dysfunction, Q.3 Completed NCT00742521
30 Metabolic Adaptations to Diabetes in African Americans Completed NCT00780195
31 Adrenergic System in Islet Transplantation Recruiting NCT03079921 Phentolamine;Propranolol;Placebo
32 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Recruiting NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
33 Comparison Between Hypoglycemic Counter Regulatory Responses in Type 1 Diabetics vs Control Subjects Recruiting NCT03034226
34 Hypoglycemia and Autonomic Nervous System Function Recruiting NCT01816893 Spironolactone and hypoglycemia;Placebo and hypoglycemia;Placebo and euglycemia
35 Hybrid Closed Loop Insulin Delivery System in Hypoglycemia Recruiting NCT03215914
36 Brain Ketone Metabolism in Type 1 Diabetes Recruiting NCT02471040 Beta-hydroxybutyrate
37 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
38 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
39 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
40 Evaluation of the Effect of Hypoglycemia With PET and a Norepinephrine Transporter Ligand Enrolling by invitation NCT02056249
41 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
42 Adverse Effects of Systemic Hypoglycemia Exposure on Endothelial Function in Humans Terminated NCT01660009
43 Tight Glycaemic Control During Cardiac Surgery Terminated NCT01225159 TGC;Conventional glycaemic control
44 The Effects of Antecedent Hypoglycemia or Exercise on the Response of the Brain to Subsequent Hypoglycemia Withdrawn NCT00600730
45 Hypoglycemia Associated Autonomic Failure in Type 1 DM, Q5 Withdrawn NCT00605774 epinephrine;epinephrine
46 Hypoglycemia Associated Autonomic Failure in Type 1 DM, Q4 Withdrawn NCT00608816 epinephrine;epinephrine
47 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Withdrawn NCT00608101 Fludrocortisone;Dexamethasone

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia

Cochrane evidence based reviews: nesidioblastosis

Genetic Tests for Hyperinsulinemic Hypoglycemia

Genetic tests related to Hyperinsulinemic Hypoglycemia:

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

Anatomical Context for Hyperinsulinemic Hypoglycemia

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

39
Brain, Pancreas, Endothelial, Pancreatic Islet, B Cells, Liver, Kidney

Publications for Hyperinsulinemic Hypoglycemia

Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50) (show all 272)
id Title Authors Year
1
Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia. ( 28715810 )
2017
2
Portosystemic shunt as a cause of congenital hyperinsulinemic hypoglycemia. ( 28401743 )
2017
3
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. ( 28102591 )
2017
4
Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia. ( 28458896 )
2017
5
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28693122 )
2017
6
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia: RETRACTED. ( 28288081 )
2017
7
Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction. ( 28672750 )
2017
8
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties. ( 28656511 )
2017
9
ASMBS Position Statement on Postprandial Hyperinsulinemic Hypoglycemia after Bariatric Surgery. ( 28110984 )
2017
10
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. ( 28373276 )
2017
11
Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey. ( 27181376 )
2016
12
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia. ( 26882312 )
2016
13
Synchronous Nesidioblastosis, Endocrine Microadenoma, and Intraductal Papillary Mucinous Neoplasia in a Man Presenting With Hyperinsulinemic Hypoglycemia. ( 26658039 )
2016
14
Hyperinsulinemic hypoglycemia associated with insulin antibodies caused by exogenous insulin analog. ( 27933175 )
2016
15
Single incision laparoscopic 90A % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
16
Assessment of Nifedipine therapy in Hyperinsulinemic Hypoglycemia due to mutations in the ABCC8 gene. ( 27898257 )
2016
17
Safety and tolerability of diazoxide in Japanese patients with hyperinsulinemic hypoglycemia. ( 26598136 )
2016
18
Postprandial hyperinsulinemic hypoglycemia after Roux-en-Y gastric bypass: an update. ( 27865808 )
2016
19
Hyperinsulinemic Hypoglycemia after Bariatric Surgery: Diagnosis and Management Experience from a Spanish Multicenter Registry. ( 26901345 )
2016
20
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms. ( 27065949 )
2016
21
Incidence and Predictive Factors of Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y Gastric Bypass: A Five year Longitudinal Study. ( 27560624 )
2016
22
Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings. ( 27771675 )
2016
23
One-Anastomosis Jejunal Interposition with Gastric Remnant Resection (Branco-Zorron Switch) for Severe Recurrent Hyperinsulinemic Hypoglycemia after Gastric Bypass for Morbid Obesity. ( 27738969 )
2016
24
Pathological aspects underlying pancreatogenous hyperinsulinemic hypoglycemia - report of three cases. ( 25826512 )
2015
25
Post-Gastric Bypass Hyperinsulinemic Hypoglycemia: Fructose is a Carbohydrate Which Can Be Safely Consumed. ( 26037514 )
2015
26
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
27
Clinical features and causes of endogenous hyperinsulinemic hypoglycemia in Korea. ( 25922806 )
2015
28
Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients. ( 25871929 )
2015
29
Persistent hyperinsulinemic hypoglycemia of infancy: a clinical and pathological study of 19 cases in a single institution. ( 26823758 )
2015
30
Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy. ( 26331229 )
2015
31
Recognition and management of hyperinsulinemic hypoglycemia after bariatric surgery. ( 26522879 )
2015
32
Severe Hyperinsulinemic Hypoglycemia in a Neonate: Response to Sirolimus Therapy. ( 26504129 )
2015
33
Hyperinsulinemic Hypoglycemia. ( 26210630 )
2015
34
Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation. ( 26487424 )
2015
35
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. ( 26316438 )
2015
36
A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of sotos syndrome. ( 25712828 )
2015
37
Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children. ( 26490124 )
2015
38
Experience of Octreotide Therapy for Hyperinsulinemic Hypoglycemia in Neonates Born Small for Gestational Age: A Case Series. ( 26448570 )
2015
39
Hyperinsulinemic Hypoglycemia in Infancy: Current Concepts in Diagnosis and Management. ( 26713990 )
2015
40
Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene. ( 25781533 )
2015
41
Hyperinsulinemic hypoglycemia syndrome associated with mutations in the human insulin receptor gene: Report of two cases. ( 25753915 )
2015
42
Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia. ( 25972930 )
2015
43
Hyperinsulinemic hypoglycemia syndrome in 2 dogs with bartonellosis. ( 24934703 )
2014
44
Treatment of severe postRYGB hyperinsulinemic hypoglycemia with pasireotide: a comparison with octreotide on insulin, glucagon, and GLP-1. ( 24448101 )
2014
45
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. ( 25117148 )
2014
46
Dynamic 18F-FDOPA PET Findings After Carbidopa Premedication in 2 Adult Patients With Insulinoma-Related Hyperinsulinemic Hypoglycemia. ( 25549347 )
2014
47
Using miglitol at 30 min before meal is effective in hyperinsulinemic hypoglycemia after a total gastrectomy. ( 25142087 )
2014
48
Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. ( 24645945 )
2014
49
Poor pregnancy outcome after octreotide treatment during pregnancy for familial hyperinsulinemic hypoglycemia: a case report. ( 25404386 )
2014
50
Fetal Macrosomia and Neonatal Hyperinsulinemic Hypoglycemia Associated With Transplacental Transfer of Sulfonylurea in a Mother With KCNJ11-Related Neonatal Diabetes. ( 25231897 )
2014

Variations for Hyperinsulinemic Hypoglycemia

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh37 Chromosome 11, 17409199: 17409199
2 KCNJ11 NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh37 Chromosome 11, 17409603: 17409603
3 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
4 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
5 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh37 Chromosome 11, 17408863: 17408863
6 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
7 KCNJ11 KCNJ11, GLY156ARG undetermined variant Pathogenic
8 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh37 Chromosome 11, 17408795: 17408795
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 GRCh37 Chromosome 11, 17409233: 17409233

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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 HNF4A INS INSR
2 12.09 GLUD1 HNF4A INS INSR
3
Show member pathways
11.97 ABCC8 INS KCNJ11
4
Show member pathways
11.96 ABCC8 GCK INS KCNJ11
5
Show member pathways
11.55 GCK HNF4A INS INSR
6
Show member pathways
11.54 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:

id Name GO ID Score Top Affiliating Genes
1 ATP-sensitive potassium channel complex GO:0008282 8.62 ABCC8 KCNJ11

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.8 ABCC8 HADH KCNJ11 SST
2 carbohydrate metabolic process GO:0005975 9.71 GCK IGF2 INS INSR
3 positive regulation of protein kinase B signaling GO:0051897 9.69 IGF2 INS INSR
4 positive regulation of MAPK cascade GO:0043410 9.65 IGF2 INS INSR
5 insulin receptor signaling pathway GO:0008286 9.63 IGF2 INS INSR
6 positive regulation of insulin secretion GO:0032024 9.6 GCK GLUD1
7 positive regulation of nitric oxide biosynthetic process GO:0045429 9.59 INS INSR
8 positive regulation of DNA replication GO:0045740 9.58 INS INSR
9 positive regulation of glucose import GO:0046326 9.58 INS INSR
10 activation of protein kinase B activity GO:0032148 9.57 INS INSR
11 positive regulation of glycolytic process GO:0045821 9.56 INS INSR
12 glucose homeostasis GO:0042593 9.56 GCK HNF4A INS INSR
13 cellular glucose homeostasis GO:0001678 9.55 ABCC8 GCK
14 negative regulation of gluconeogenesis GO:0045721 9.54 GCK INS
15 negative regulation of insulin secretion GO:0046676 9.54 ABCC8 HADH KCNJ11
16 positive regulation of insulin receptor signaling pathway GO:0046628 9.52 IGF2 INS
17 positive regulation of mitotic nuclear division GO:0045840 9.5 IGF2 INS INSR
18 regulation of insulin secretion GO:0050796 9.46 ABCC8 GCK HNF4A KCNJ11
19 positive regulation of respiratory burst GO:0060267 9.43 INS INSR
20 glucose metabolic process GO:0006006 9.26 GCK IGF2 INS KCNJ11
21 positive regulation of glycogen biosynthetic process GO:0045725 8.92 GCK IGF2 INS INSR

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 IGF2 INS SST
2 insulin receptor binding GO:0005158 9.32 IGF2 INS
3 NAD+ binding GO:0070403 9.26 GLUD1 HADH
4 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 ABCC8 KCNJ11
5 insulin-like growth factor receptor binding GO:0005159 8.8 IGF2 INS INSR

Sources for Hyperinsulinemic Hypoglycemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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