MCID: HYP604
MIFTS: 59

Hyperinsulinemic Hypoglycemia, Familial, 2

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 2

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 2:

Name: Hyperinsulinemic Hypoglycemia, Familial, 2 57 13 73
Nesidioblastosis 57 76 55 73
Persistent Hyperinsulinemic Hypoglycemia of Infancy 57 24 75
Familial Hyperinsulinism 24 29 6
Phhi 57 24 75
Hhf2 57 53 75
Congenital Hyperinsulinism 75 73
Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency, Diazoxide-Resistant Focal Form 59
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 59
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 59
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 57
Diazoxide-Resistant Focal Hyperinsulinism Due to Kir6.2 Deficiency 59
Autosomal Recessive Hyperinsulinism Due to Kir6.2 Deficiency 59
Autosomal Dominant Hyperinsulinism Due to Kir6.2 Deficiency 59
Persistent Hyperinsulinemic Hypoglycemia of Infancy; Phhi 57
Dominant Katp Hyperinsulinism Due to Kir6.2 Deficiency 59
Hyperinsulinemic Hypoglycemia, Persistent 57
Hyperinsulinemic Hypoglycemia Familial 2 53
Familial Hyperinsulinemic Hypoglycemia 2 75
Hyperinsulinism, Congenital 57
Hyperinsulinism, Neonatal 57
Hyperinsulinism, Familial 57
Fhi 24

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant hyperinsulinism due to kir6.2 deficiency
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

32
hyperinsulinemic hypoglycemia, familial, 2:
Inheritance heterogeneous autosomal recessive inheritance


GeneReviews:

24
Penetrance Autosomal recessive fhi demonstrates nearly complete penetrance. some splice variants, particularly the abcc8 pathogenic variant common in the ashkenazi jewish population, present with markedly variable clinical severity; some homozygous individuals may be asymptomatic...

Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Hyperinsulinemic Hypoglycemia, Familial, 2

UniProtKB/Swiss-Prot : 75 Familial hyperinsulinemic hypoglycemia 2: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 2, also known as nesidioblastosis, is related to hypoglycemia and hyperinsulinemic hypoglycemia. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 2 is KCNJ11 (Potassium Voltage-Gated Channel Subfamily J Member 11), and among its related pathways/superpathways are Integration of energy metabolism and Type II diabetes mellitus. The drugs lanreotide and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include brain, pancreatic islet and pancreas, and related phenotypes are hyperhidrosis and seizures

Wikipedia : 76 Nesidioblastosis is a controversial medical term for hyperinsulinemic hypoglycemia attributed to... more...

Description from OMIM: 601820
GeneReviews: NBK1375

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 2

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, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 31.0 ABCC8 INS KCNJ11
2 hyperinsulinemic hypoglycemia 29.6 ABCC8 HNF4A INS KCNJ11 SST
3 hyperinsulinism 28.7 ABCC8 HNF4A INS KCNJ11 SST
4 hyperinsulinemic hypoglycemia, familial, 1 12.1
5 fuchs' heterochromic uveitis 11.8
6 hyperinsulinemic hypoglycemia, familial, 3 11.5
7 hyperinsulinemic hypoglycemia, familial, 5 11.5
8 hyperinsulinemic hypoglycemia, familial, 4 11.5
9 retinal vasculitis 10.9
10 munchausen by proxy 10.7 ABCC8 KCNJ11
11 cardiomyopathy, dilated, 1o 10.7 ABCC8 KCNJ11
12 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.6 ABCC8 KCNJ11
13 usher syndrome, type ic 10.6 ABCC8 KCNJ11
14 cantu syndrome 10.5 ABCC8 KCNJ11
15 fanconi-bickel syndrome 10.5 ABCC8 INS
16 duodenal somatostatinoma 10.4 INS SST
17 postgastrectomy syndrome 10.4 INS SST
18 postural hypotension 10.4 INS SST
19 hyperpituitarism 10.4 INS SST
20 duodenitis 10.3 GAST INS
21 adenoma of the pancreas 10.3 CHGA SST
22 pylorospasm 10.3 GAST SST
23 gastrointestinal neuroendocrine tumor 10.3 CHGA SST
24 malignant skin fibrous histiocytoma 10.3 CHGA KCNJ11
25 postcholecystectomy syndrome 10.3 GAST SST
26 pituitary carcinoma 10.3 CHGA SST
27 autoimmune atrophic gastritis 10.3 CHGA GAST
28 factitious disorder 10.2 ABCC8 INS KCNJ11
29 acute insulin response 10.2 ABCC8 INS KCNJ11
30 malignant dermis tumor 10.2 CHGA KCNJ11
31 type 1 diabetes mellitus 2 10.2 IGF2 INS
32 hypoglycemic coma 10.2 IGF2 INS
33 pancreatic agenesis 10.2 ABCC8 INS KCNJ11
34 pancreatoblastoma 10.2 CHGA SST
35 diabetes mellitus, transient neonatal, 1 10.2 ABCC8 INS KCNJ11
36 carcinoid tumors, intestinal 10.2 CHGA SST
37 diabetes mellitus, permanent neonatal 10.2 ABCC8 INS KCNJ11
38 retinitis pigmentosa 40 10.2 GAST SST
39 neonatal diabetes mellitus 10.2 ABCC8 INS KCNJ11
40 pernicious anemia 10.2 GAST SST
41 goblet cell carcinoid 10.2 CHGA GAST
42 binswanger's disease 10.2 CHGA SST
43 carcinoid syndrome 10.2 CHGA SST
44 carbohydrate metabolic disorder 10.2 ABCC8 INS
45 gestational diabetes 10.2 HNF4A INS KCNJ11
46 granulosa cell tumor of the ovary 10.2 CHGA INS
47 alstrom syndrome 10.2 INS KCNJ11
48 non-functioning pancreatic endocrine tumor 10.1 CHGA GAST
49 pituitary-dependent cushing's disease 10.1 INS SST
50 acquired metabolic disease 10.1 INS KCNJ11 SST

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 2:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 2

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 2

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia

Growth Other:
large for gestational age

Endocrine Features:
hyperinsulinemic hypoglycemia

Abdomen Pancreas:
islet cell hyperplasia, diffuse


Clinical features from OMIM:

601820

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 2:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
4 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
7 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
8 agitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000713
9 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
10 hyperinsulinemic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000825
11 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
12 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
13 large for gestational age 59 32 occasional (7.5%) Occasional (29-5%) HP:0001520
14 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
15 secondary growth hormone deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008240
16 decreased circulating cortisol level 59 32 occasional (7.5%) Occasional (29-5%) HP:0008163
17 tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001649
18 drowsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002329
19 abnormal brain fdg positron emission tomography 59 32 occasional (7.5%) Occasional (29-5%) HP:0012658
20 pancreatic islet-cell hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004510
21 abnormality of fatty-acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004359
22 progressive neurologic deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002344
23 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
24 vitamin b1 deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0100503
25 cognitive impairment 59 Frequent (79-30%)
26 hypoglycemia 32 HP:0001943
27 hyperinsulinemia 59 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 ABCC8 CHGA HNF4A IGF2 KCNJ11

MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 KCNJ11 ABCC8 CHGA GAST IGF2 INS
2 homeostasis/metabolism MP:0005376 9.56 KCNJ11 SST ABCC8 CHGA GAST HNF4A
3 no phenotypic analysis MP:0003012 9.1 SST ABCC8 CHGA IGF2 INS KCNJ11

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 2

Drugs for Hyperinsulinemic Hypoglycemia, Familial, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# 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,Not Applicable 83150-76-9 383414 6400441
3
Somatostatin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 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,Not Applicable,Early Phase 1
9 Hormones Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
11 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
12 Incretins Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
13 Vasodilator Agents Phase 4,Phase 2,Phase 3
14 Anti-Arrhythmia Agents Phase 4,Early Phase 1
15 calcium channel blockers Phase 4
16 Calcium, Dietary Phase 4
17 Cardiac Glycosides Phase 4,Phase 2
18 Dipeptidyl-Peptidase IV Inhibitors Phase 4
19 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
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,Phase 2,Early Phase 1,Not Applicable 141758-74-9 15991534
30
Pancrelipase Approved, Investigational Phase 2,Not Applicable 53608-75-6
31
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
32 tannic acid Approved, Nutraceutical Phase 1, Phase 2
33 glucagon Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1
34 Glucagon-Like Peptide 1 Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1
35 insulin Phase 1, Phase 2,Not Applicable,Early Phase 1
36 Insulin, Globin Zinc Phase 1, Phase 2,Not Applicable,Early Phase 1
37 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
38 Gastrointestinal Agents Phase 2,Not Applicable,Early Phase 1
39 pancreatin Phase 2,Not Applicable
40 Blood Substitutes Phase 1, Phase 2
41 Plasma Substitutes Phase 1, Phase 2
42 Polygeline Phase 1, Phase 2
43 Radiopharmaceuticals Phase 1, Phase 2
44 Pharmaceutical Solutions Phase 2
45 lysine Nutraceutical Phase 1, Phase 2
46
Lactitol Investigational Phase 1 585-86-4 3871
47
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
48
Atropine Approved, Vet_approved Early Phase 1 5908-99-6, 51-55-8 174174
49
Zinc Approved, Investigational Early Phase 1 7440-66-6 23994
50
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Early Phase 1 53-43-0 9860744

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 Completed NCT02527993 Phase 4 Glucobay (acarbose);Januvia (sitagliptin);Verapamil HEXAL (verapamil);Victoza (liraglutide);Signifor (pasireotide)
3 Pasireotide in the Treatment of Hypoglycemia Following Gastric Bypass Surgery Enrolling by invitation NCT03514576 Phase 4 Pasireotide 0.3 MG/ML
4 Diazoxide In the Management Of Hypoglycemic Neonates Unknown status NCT00994149 Phase 2, Phase 3 Diazoxide;Ora-plus
5 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
6 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
7 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
8 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
9 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
10 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Completed NCT00674440 Phase 2 F-DOPA
11 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
12 Efficacy, Tolerability and Pharmacokinetics of Subcutaneous Exendin (9-39) in Patients With Post Bariatric Hypoglycemia Completed NCT02771574 Phase 2 Exendin (9-39)
13 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
14 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Recruiting NCT02685852 Phase 2 Exenatide;Acarbose;Placebo
15 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Recruiting NCT02937558 Phase 2 Glucagon
16 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, 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 Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
19 Sirolimus for the Treatment of Hyperinsulinism Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
20 Role of GLP-1 in Hyperinsulinemic Hypoglycemia Post-bariatric Surgery Unknown status NCT02550145 Phase 1 Exendin (9-39)
21 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
22 Fluorodopa F 18 in Congenital Hyperinsulinism Recruiting NCT02021604 Phase 1 Fluorodopa F 18
23 GLP1R-imaging in Hypoglycemia Recruiting NCT03182192 Phase 1
24 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)
25 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
26 Etiology, Assessment and Treatment of Post-gastric Bypass Severe Hypoglycemia Unknown status NCT01865760 Not Applicable Octreotide;Synthetic Exendin 9-39
27 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
28 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
29 Post-Gastric Bypass Hypoglycemia Completed NCT01933490 Not Applicable
30 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541 Not Applicable
31 Bionic Pancreas in Children With Hyperinsulinism and Post-Pancreatectomy Diabetes Recruiting NCT03303196 Not Applicable
32 Role of Neural and Hormonal Regulation Factors on Insulin Secretion After Gastric Bypass Surgery Recruiting NCT00992901 Early Phase 1 Exendin-(9-39);Atropine;GLP-1 and GIP
33 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Recruiting NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
34 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
35 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
36 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 2

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 2

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 2:

# Genetic test Affiliating Genes
1 Familial Hyperinsulinism 29 HNF4A

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 2

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 2:

41
Brain, Pancreatic Islet, Pancreas, B Cells

Publications for Hyperinsulinemic Hypoglycemia, Familial, 2

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 2:

(show top 50) (show all 73)
# Title Authors Year
1
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis. ( 29958183 )
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
Single incision laparoscopic 90A % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
4
Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy. ( 26331229 )
2015
5
Persistent hyperinsulinemic hypoglycemia of infancy: a clinical and pathological study of 19 cases in a single institution. ( 26823758 )
2015
6
Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients. ( 25871929 )
2015
7
Comment on persistent hyperinsulinemic hypoglycemia of infancy. ( 23798817 )
2013
8
Food aversion among patients with persistent hyperinsulinemic hypoglycemia of infancy. ( 22595568 )
2012
9
Persistent hyperinsulinemic hypoglycemia of infancy. ( 22876564 )
2012
10
Persistent hyperinsulinemic hypoglycemia of infancy: An overview of current concepts. ( 22869973 )
2012
11
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. ( 21956412 )
2011
12
Is octreotide safe for the management of persistent hyperinsulinemic hypoglycemia of infancy? ( 21283963 )
2011
13
Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation. ( 20589481 )
2010
14
Persistent hyperinsulinemic hypoglycemia of infancy associated with congenital neuroblastoma: a case report. ( 20572382 )
2010
15
Persistent hyperinsulinemic hypoglycemia of infancy: constitutive activation of the mTOR pathway with associated exocrine-islet transdifferentiation and therapeutic implications. ( 20830240 )
2010
16
Laparoscopic near-total pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy: report of two cases. ( 19432529 )
2010
17
Laparoscopic vs open pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 19433178 )
2009
18
Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 19159730 )
2009
19
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. ( 18339976 )
2008
20
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy. ( 16459471 )
2005
21
Growth restriction and exendin 4 promote endocrine expression in cultured islet cells derived from patients with persistent hyperinsulinemic hypoglycemia of infancy (PHHI). ( 16353670 )
2005
22
Identification of a novel polymorphism in the fibronectin type II domain of the SEL1L gene and possible relation to the persistent hyperinsulinemic hypoglycemia of infancy. ( 15450414 )
2004
23
Persistent hyperinsulinemic hypoglycemia of infancy - nesidioblastosis. ( 15321046 )
2004
24
Megestrol acetate promotes euglycemia and appetite in a child with persistent hyperinsulinemic hypoglycemia of infancy. ( 15124853 )
2004
25
Persistent hyperinsulinemic hypoglycemia of infancy. ( 14518075 )
2003
26
Persistent hyperinsulinemic hypoglycemia of infancy in 38 children. ( 12939679 )
2003
27
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. ( 12606521 )
2003
28
Laparoscopic identification and removal of focal lesions in persistent hyperinsulinemic hypoglycemia of infancy. ( 14689291 )
2003
29
Early brain atrophy in persistent hyperinsulinemic hypoglycemia of infancy. ( 12410202 )
2002
30
The association of leukocyte adhesion defect type I and persistent hyperinsulinemic hypoglycemia of infancy in a Saudi Arabian family. ( 12186366 )
2002
31
Persistent hyperinsulinemic hypoglycemia of infancy: experience at Siriraj Hospital. ( 12403226 )
2002
32
ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. ( 12199344 )
2002
33
Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy. ( 11912517 )
2002
34
Persistent hyperinsulinemic hypoglycemia of infancy--successful therapy with nifedipine. ( 12003307 )
2002
35
Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 11443431 )
2001
36
The focal form of persistent hyperinsulinemic hypoglycemia of infancy. ( 11272187 )
2001
37
Focal or diffuse lesions in persistent hyperinsulinemic hypoglycemia of infancy: concerns about interpretation of intraoperative frozen sections. ( 11178629 )
2001
38
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. ( 11226335 )
2001
39
The molecular basis of persistent hyperinsulinemic hypoglycemia of infancy and its pathologic substrates. ( 10664155 )
2000
40
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. ( 10615958 )
2000
41
Persistent hyperinsulinemic hypoglycemia of infancy: long-term outcome following subtotal pancreatectomy. ( 10689636 )
2000
42
Characterization of genes encoding the pancreatic beta-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients. ( 11228046 )
2000
43
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. ( 10993895 )
2000
44
Histologic findings in persistent hyperinsulinemic hypoglycemia of infancy: Australian experience. ( 11000331 )
2000
45
Normal growth after administration of octreotide: report on a case of persistent hyperinsulinemic hypoglycemia of infancy treated by continuous subcutaneous injection of octreotide. ( 12054118 )
1999
46
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. ( 10334322 )
1999
47
Engineering a glucose-responsive human insulin-secreting cell line from islets of Langerhans isolated from a patient with persistent hyperinsulinemic hypoglycemia of infancy. ( 10567373 )
1999
48
Focal and Diffuse Beta Cell Changes in Persistent Hyperinsulinemic Hypoglycemia of Infancy. ( 12114766 )
1999
49
Combined raw cornstarch and nifedipine as an additional treatment in persistent hyperinsulinemic hypoglycemia of infancy. ( 10730516 )
1999
50
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. ( 9648840 )
1998

Variations for Hyperinsulinemic Hypoglycemia, Familial, 2

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 2:

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 KCNJ11 p.Leu147Pro VAR_001557 rs28936678
2 KCNJ11 p.Lys67Asn VAR_026506
3 KCNJ11 p.Trp91Arg VAR_026507
4 KCNJ11 p.Pro254Leu VAR_026513
5 KCNJ11 p.Arg34His VAR_031329
6 KCNJ11 p.Gly40Asp VAR_031330
7 KCNJ11 p.Phe55Leu VAR_031335
8 KCNJ11 p.Ala101Asp VAR_031336
9 KCNJ11 p.Ser116Pro VAR_031337
10 KCNJ11 p.Gly134Ala VAR_031338
11 KCNJ11 p.Arg136Leu VAR_031339
12 KCNJ11 p.His259Arg VAR_031345
13 KCNJ11 p.Pro266Leu VAR_031346
14 KCNJ11 p.Arg301His VAR_031347
15 KCNJ11 p.Gly156Arg VAR_073683
16 KCNJ11 p.Asp204Glu VAR_073685
17 KCNJ11 p.Glu282Lys VAR_073687

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 2:

6
(show top 50) (show all 65)
# 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.440T> C (p.Leu147Pro) single nucleotide variant Pathogenic rs28936678 GRCh38 Chromosome 11, 17387652: 17387652
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.36C> A (p.Tyr12Ter) single nucleotide variant Pathogenic rs104894236 GRCh38 Chromosome 11, 17388056: 17388056
5 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh37 Chromosome 11, 17409772: 17409772
6 KCNJ11 NM_000525.3(KCNJ11): c.-134G> T single nucleotide variant Pathogenic rs387906398 GRCh38 Chromosome 11, 17388225: 17388225
7 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh37 Chromosome 11, 17408878: 17408878
8 KCNJ11 NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu) single nucleotide variant Pathogenic rs104894237 GRCh38 Chromosome 11, 17387331: 17387331
9 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh37 Chromosome 11, 17408863: 17408863
10 KCNJ11 NM_000525.3(KCNJ11): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs104894248 GRCh38 Chromosome 11, 17387316: 17387316
11 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
12 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh38 Chromosome 11, 17388025: 17388025
13 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
14 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Pathogenic rs74339576 GRCh38 Chromosome 11, 17387190: 17387190
15 KCNJ11 KCNJ11, GLY156ARG undetermined variant Pathogenic
16 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh37 Chromosome 11, 17408795: 17408795
17 KCNJ11 NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys) single nucleotide variant Pathogenic rs267607196 GRCh38 Chromosome 11, 17387248: 17387248
18 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
19 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh38 Chromosome 11, 17397055: 17397055
20 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Likely pathogenic rs137852676 GRCh37 Chromosome 11, 17417399: 17417399
21 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Likely pathogenic rs137852676 GRCh38 Chromosome 11, 17395852: 17395852
22 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
23 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh38 Chromosome 11, 17395611: 17395611
24 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh37 Chromosome 11, 17408496: 17408496
25 KCNJ11 NM_000525.3(KCNJ11): c.1143G> A (p.Lys381=) single nucleotide variant Benign/Likely benign rs8175351 GRCh38 Chromosome 11, 17386949: 17386949
26 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh37 Chromosome 11, 17408630: 17408630
27 KCNJ11 NM_000525.3(KCNJ11): c.1009G> A (p.Val337Ile) single nucleotide variant Benign/Likely benign rs5215 GRCh38 Chromosome 11, 17387083: 17387083
28 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh37 Chromosome 11, 17408831: 17408831
29 KCNJ11 NM_000525.3(KCNJ11): c.808C> G (p.Leu270Val) single nucleotide variant Benign/Likely benign rs1800467 GRCh38 Chromosome 11, 17387284: 17387284
30 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh37 Chromosome 11, 17408838: 17408838
31 KCNJ11 NM_000525.3(KCNJ11): c.801C> G (p.Leu267=) single nucleotide variant Benign/Likely benign rs5216 GRCh38 Chromosome 11, 17387291: 17387291
32 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh37 Chromosome 11, 17409069: 17409069
33 KCNJ11 NM_000525.3(KCNJ11): c.570C> T (p.Ala190=) single nucleotide variant Benign/Likely benign rs5218 GRCh38 Chromosome 11, 17387522: 17387522
34 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh37 Chromosome 11, 17409478: 17409478
35 KCNJ11 NM_000525.3(KCNJ11): c.161G> A (p.Arg54His) single nucleotide variant Uncertain significance rs587783666 GRCh38 Chromosome 11, 17387931: 17387931
36 ABCC8 NM_000352.4(ABCC8): c.4411G> A (p.Asp1471Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72559716 GRCh37 Chromosome 11, 17416719: 17416719
37 ABCC8 NM_000352.4(ABCC8): c.4411G> A (p.Asp1471Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72559716 GRCh38 Chromosome 11, 17395172: 17395172
38 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
39 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh38 Chromosome 11, 17395888: 17395890
40 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
41 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic rs780957825 GRCh37 Chromosome 11, 17408758: 17408758
42 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
43 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
44 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
45 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
46 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Likely pathogenic rs752507753 GRCh38 Chromosome 11, 17388013: 17388013
47 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Likely pathogenic rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
48 ABCC8 NM_001287174.1(ABCC8): c.683G> A (p.Gly228Asp) single nucleotide variant Pathogenic rs863225280 GRCh37 Chromosome 11, 17483269: 17483269
49 ABCC8 NM_001287174.1(ABCC8): c.683G> A (p.Gly228Asp) single nucleotide variant Pathogenic rs863225280 GRCh38 Chromosome 11, 17461722: 17461722
50 ABCC8 NM_000352.4(ABCC8): c.3640C> T (p.Arg1214Trp) single nucleotide variant Pathogenic rs139964066 GRCh37 Chromosome 11, 17424218: 17424218

Expression for Hyperinsulinemic Hypoglycemia, Familial, 2

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 2.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 2

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 2

Cellular components related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 CHGA GAST IGF2 INS SCT SST
2 extracellular space GO:0005615 9.43 CHGA GAST IGF2 INS SCT SST
3 inward rectifying potassium channel GO:0008282 8.62 ABCC8 KCNJ11

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.65 ABCC8 KCNJ11 SST
2 glucose homeostasis GO:0042593 9.54 HNF4A IGF2 INS
3 positive regulation of mitotic nuclear division GO:0045840 9.46 IGF2 INS
4 positive regulation of insulin receptor signaling pathway GO:0046628 9.43 IGF2 INS
5 response to glucose GO:0009749 9.43 HNF4A IGF2 INS
6 positive regulation of glycogen biosynthetic process GO:0045725 9.4 IGF2 INS
7 regulation of insulin secretion GO:0050796 9.33 ABCC8 HNF4A KCNJ11
8 negative regulation of blood vessel diameter GO:0097756 9.32 CHGA INS
9 glucose metabolic process GO:0006006 9.13 IGF2 INS KCNJ11
10 regulation of signaling receptor activity GO:0010469 9.02 GAST IGF2 INS SCT SST

Molecular functions related to Hyperinsulinemic Hypoglycemia, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 9.32 IGF2 INS
2 insulin-like growth factor receptor binding GO:0005159 9.26 IGF2 INS
3 ATP-activated inward rectifier potassium channel activity GO:0015272 9.16 ABCC8 KCNJ11
4 hormone activity GO:0005179 9.02 GAST IGF2 INS SCT SST
5 receptor activator activity GO:0030546 8.96 IGF2 INS

Sources for Hyperinsulinemic Hypoglycemia, Familial, 2

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