MCID: HYP604
MIFTS: 53

Hyperinsulinemic Hypoglycemia, Familial, 2

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 2

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 2:

Name: Hyperinsulinemic Hypoglycemia, Familial, 2 53 13 69
Nesidioblastosis 53 72 51 69
Persistent Hyperinsulinemic Hypoglycemia of Infancy 53 23 71
Phhi 53 23 71
Hhf2 53 49 71
Congenital Hyperinsulinism 71 69
Familial Hyperinsulinism 23 28
Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency, Diazoxide-Resistant Focal Form 55
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 55
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency 55
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 53
Diazoxide-Resistant Focal Hyperinsulinism Due to Kir6.2 Deficiency 55
Autosomal Recessive Hyperinsulinism Due to Kir6.2 Deficiency 55
Autosomal Dominant Hyperinsulinism Due to Kir6.2 Deficiency 55
Persistent Hyperinsulinemic Hypoglycemia of Infancy; Phhi 53
Dominant Katp Hyperinsulinism Due to Kir6.2 Deficiency 55
Hyperinsulinemic Hypoglycemia, Persistent 53
Hyperinsulinemic Hypoglycemia Familial 2 49
Familial Hyperinsulinemic Hypoglycemia 2 71
Hyperinsulinism, Congenital 53
Hyperinsulinism, Neonatal 53
Hyperinsulinism, Familial 53
Fhi 23

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

31
hyperinsulinemic hypoglycemia, familial, 2:
Inheritance heterogeneous autosomal recessive inheritance


GeneReviews:

23
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: 55  
Rare endocrine diseases


Summaries for Hyperinsulinemic Hypoglycemia, Familial, 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including seizures, vomiting and diarrhea. 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 and pancreatic islet, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Wikipedia : 72 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 108)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 30.9 ABCC8 INS KCNJ11
2 hyperinsulinemic hypoglycemia 30.0 ABCC8 HNF4A INS KCNJ11 SST
3 hyperinsulinism 29.2 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 10.4 ABCC8 KCNJ11
11 cardiomyopathy, dilated, 1o 10.4 ABCC8 KCNJ11
12 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.4 ABCC8 KCNJ11
13 usher syndrome, type ic 10.4 ABCC8 KCNJ11
14 cantu syndrome 10.4 ABCC8 KCNJ11
15 fanconi-bickel syndrome 10.3 ABCC8 INS
16 duodenal somatostatinoma 10.3 INS SST
17 postgastrectomy syndrome 10.3 INS SST
18 postural hypotension 10.3 INS SST
19 hyperpituitarism 10.2 INS SST
20 alstrom syndrome 10.2 INS KCNJ11
21 duodenitis 10.2 GAST INS
22 carbohydrate metabolic disorder 10.2 ABCC8 INS
23 malignant skin fibrous histiocytoma 10.2 CHGA KCNJ11
24 adenoma of the pancreas 10.2 CHGA SST
25 pylorospasm 10.2 GAST SST
26 malignant dermis tumor 10.2 CHGA KCNJ11
27 postcholecystectomy syndrome 10.2 GAST SST
28 pituitary carcinoma 10.2 CHGA SST
29 autoimmune atrophic gastritis 10.2 CHGA GAST
30 retinitis pigmentosa 40 10.2 GAST SST
31 factitious disorder 10.2 ABCC8 INS KCNJ11
32 pancreatoblastoma 10.2 CHGA SST
33 hypoglycemic coma 10.2 IGF2 INS
34 acute insulin response 10.2 ABCC8 INS KCNJ11
35 carcinoid tumors, intestinal 10.1 CHGA SST
36 pancreatic agenesis 10.1 ABCC8 INS KCNJ11
37 type 1 diabetes mellitus 2 10.1 IGF2 INS
38 granulosa cell tumor of the ovary 10.1 CHGA INS
39 diabetes mellitus, transient neonatal, 1 10.1 ABCC8 INS KCNJ11
40 diabetes mellitus, permanent neonatal 10.1 ABCC8 INS KCNJ11
41 pernicious anemia 10.1 GAST SST
42 neonatal diabetes mellitus 10.1 ABCC8 INS KCNJ11
43 goblet cell carcinoid 10.1 CHGA GAST
44 binswanger's disease 10.1 CHGA SST
45 carcinoid syndrome 10.1 CHGA SST
46 pituitary-dependent cushing's disease 10.1 INS SST
47 non-functioning pancreatic endocrine tumor 10.1 CHGA GAST
48 fetal macrosomia 10.1 IGF2 INS
49 acquired metabolic disease 10.1 INS KCNJ11 SST
50 adult syndrome 10.0 IGF2 INS

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:

53
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:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002013
3 diarrhea 55 31 frequent (33%) Frequent (79-30%) HP:0002014
4 lethargy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001254
5 agitation 55 31 occasional (7.5%) Occasional (29-5%) HP:0000713
6 hyperhidrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000975
7 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
8 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
9 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
10 pallor 55 31 hallmark (90%) Very frequent (99-80%) HP:0000980
11 coma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001259
12 hyperinsulinemic hypoglycemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000825
13 large for gestational age 55 31 occasional (7.5%) Occasional (29-5%) HP:0001520
14 neonatal hypoglycemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001998
15 secondary growth hormone deficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0008240
16 decreased circulating cortisol level 55 31 occasional (7.5%) Occasional (29-5%) HP:0008163
17 tachycardia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001649
18 drowsiness 55 31 occasional (7.5%) Occasional (29-5%) HP:0002329
19 abnormal brain fdg positron emission tomography 55 31 occasional (7.5%) Occasional (29-5%) HP:0012658
20 pancreatic islet-cell hyperplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004510
21 abnormality of fatty-acid metabolism 55 31 hallmark (90%) Very frequent (99-80%) HP:0004359
22 progressive neurologic deterioration 55 31 hallmark (90%) Very frequent (99-80%) HP:0002344
23 hypoketotic hypoglycemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001985
24 vitamin b1 deficiency 55 31 frequent (33%) Frequent (79-30%) HP:0100503
25 cognitive impairment 55 Frequent (79-30%)
26 hypoglycemia 31 HP:0001943
27 hyperinsulinemia 55 Very frequent (99-80%)

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 ABCC8 CHGA GAST IGF2 INS KCNJ11
2 homeostasis/metabolism MP:0005376 9.56 ABCC8 CHGA GAST HNF4A IGF2 INS
3 no phenotypic analysis MP:0003012 9.1 CHGA IGF2 INS KCNJ11 SST ABCC8

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 75)
# 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 6400441 383414
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
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,Phase 2,Not Applicable,Early Phase 1
37 Glucagon-Like Peptide 1 Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1
38 insulin Phase 1, Phase 2,Not Applicable,Early Phase 1
39 Insulin, Globin Zinc Phase 1, Phase 2,Not Applicable,Early Phase 1
40 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
41 Gastrointestinal Agents Phase 2,Not Applicable,Early Phase 1
42 pancreatin Phase 2,Not Applicable
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 35)

# 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 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 Not Applicable 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 Not Applicable
29 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541 Not Applicable
30 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Recruiting NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
31 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
32 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
33 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
34 Bionic Pancreas in Children With Hyperinsulinism and Post-Pancreatectomy Diabetes Not yet recruiting NCT03303196 Not Applicable
35 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, Familial, 2

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 2

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 2:

# Genetic test Affiliating Genes
1 Familial Hyperinsulinism 28 HNF4A

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 2

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

38
Brain, Pancreatic Islet

Publications for Hyperinsulinemic Hypoglycemia, Familial, 2

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 2:

(show top 50) (show all 153)
# Title Authors Year
1
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. ( 29087246 )
2017
2
The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) - literature review. ( 29025242 )
2017
3
Single incision laparoscopic 90A % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
4
Synchronous Nesidioblastosis, Endocrine Microadenoma, and Intraductal Papillary Mucinous Neoplasia in a Man Presenting With Hyperinsulinemic Hypoglycemia. ( 26658039 )
2016
5
Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy. ( 26331229 )
2015
6
Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients. ( 25871929 )
2015
7
Selective Arterial Calcium Stimulation With Hepatic Venous Sampling Differentiates Insulinoma From Nesidioblastosis. ( 26312578 )
2015
8
Persistent hyperinsulinemic hypoglycemia of infancy: a clinical and pathological study of 19 cases in a single institution. ( 26823758 )
2015
9
Nesidioblastosis and Pancreatic Non-functioning Islet Cell Tumor in an Adult with Type 2 Diabetes Mellitus. ( 24255640 )
2013
10
Comment on persistent hyperinsulinemic hypoglycemia of infancy. ( 23798817 )
2013
11
Treatment of hyperinsulinemic hypoglycemia because of diffuse nesidioblastosis with nifedipine after surgical therapies in a newborn. ( 23751383 )
2013
12
Persistent hyperinsulinemic hypoglycemia of infancy. ( 22876564 )
2012
13
Hypoglycemia due to an adult-onset nesidioblastosis, a diagnostic and management dilemma. ( 23210022 )
2012
14
Diffuse nesidioblastosis with hypoglycemia mimicking an insulinoma: a case report. ( 23031644 )
2012
15
Persistent hyperinsulinemic hypoglycemia of infancy: An overview of current concepts. ( 22869973 )
2012
16
Food aversion among patients with persistent hyperinsulinemic hypoglycemia of infancy. ( 22595568 )
2012
17
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. ( 21956412 )
2011
18
Is octreotide safe for the management of persistent hyperinsulinemic hypoglycemia of infancy? ( 21283963 )
2011
19
Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation. ( 20589481 )
2010
20
Persistent hyperinsulinemic hypoglycemia of infancy: constitutive activation of the mTOR pathway with associated exocrine-islet transdifferentiation and therapeutic implications. ( 20830240 )
2010
21
Persistent hyperinsulinemic hypoglycemia of infancy associated with congenital neuroblastoma: a case report. ( 20572382 )
2010
22
Laparoscopic near-total pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy: report of two cases. ( 19432529 )
2010
23
Case reports of insulinoma and nesidioblastosis in Ethiopia. ( 20608002 )
2010
24
Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 19159730 )
2009
25
Hyperinsulinemic hypoglycemia with nesidioblastosis: histologic features and growth factor expression. ( 18931647 )
2009
26
A case of nesidioblastosis causing hypoglycaemia after delivery. ( 19019477 )
2009
27
Nesidioblastosis as a cause of focal pancreatic 111In-pentetreotide uptake in a patient with putative VIPoma: another differential diagnosis. ( 19387771 )
2009
28
Treatment of hyperinsulinemic hypoglycemia due to diffuse nesidioblastosis in adults: a case report. ( 19385295 )
2009
29
Laparoscopic vs open pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 19433178 )
2009
30
Nesidioblastosis and hyperplasia of alpha cells, microglucagonoma, and nonfunctioning islet cell tumor of the pancreas: review of the literature. ( 18437091 )
2008
31
Adult hyperinsulinaemic hypoglycaemia caused by coexisting nesidioblastosis and insulinoma. ( 18471686 )
2008
32
Diffuse nesidioblastosis causing hyperinsulinemic hypoglycemia: the importance of pancreatic sampling on EUS. ( 18547573 )
2008
33
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
34
Hyperinsulinemic hypoglycemia due to diffuse nesidioblastosis in adults: a case report. ( 18176978 )
2008
35
An unusual case of concurrent insulinoma and nesidioblastosis. ( 18762698 )
2008
36
Diffuse nesidioblastosis as a cause of hyperinsulinemic hypoglycemia in adults: a diagnostic and therapeutic challenge. ( 17263973 )
2007
37
Surgical treatment of persistent hyperinsulinemic hypoglycemia (PHH) (insulinoma and nesidioblastosis). ( 17375321 )
2007
38
Metastatic insulinoma in an adult patient with underlying nesidioblastosis. ( 17646729 )
2007
39
Rapid intraoperative insulin assay: a novel method to differentiate insulinoma from nesidioblastosis in the pediatric patient. ( 17958895 )
2007
40
Insulin responses to selective arterial calcium infusion under hyperinsulinemic euglycemic glucose clamps: case studies in adult nesidioblastosis and childhood insulinoma. ( 17053293 )
2007
41
Coincidence of insulinoma with nesidioblastosis or false diagnosis in 2 of 15 patients? ( 16819338 )
2006
42
Hyperinsulinemic hypoglycemia due to adult nesidioblastosis in insulin-dependent diabetes. ( 17131493 )
2006
43
Post-gastric bypass hyperinsulinism with nesidioblastosis: subtotal or total pancreatectomy may be needed to prevent recurrent hypoglycemia. ( 16966030 )
2006
44
Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. ( 16299937 )
2005
45
Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. ( 16034010 )
2005
46
Persistent hyperinsulinemic hypoglycemia in 15 adults with diffuse nesidioblastosis: diagnostic criteria, incidence, and characterization of beta-cell changes. ( 15767809 )
2005
47
Growth restriction and exendin 4 promote endocrine expression in cultured islet cells derived from patients with persistent hyperinsulinemic hypoglycemia of infancy (PHHI). ( 16353670 )
2005
48
Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. ( 16291992 )
2005
49
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy. ( 16459471 )
2005
50
Normal pregnancy in a woman with nesidioblastosis treated with somatostatin analog octreotide. ( 15279081 )
2004

Variations for Hyperinsulinemic Hypoglycemia, Familial, 2

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

71 (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 55)
# 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 ABCC8; KCNJ11 NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu) single nucleotide variant drug response,risk factor rs5219 GRCh37 Chromosome 11, 17409572: 17409572
8 KCNJ11 NM_000525.3(KCNJ11): c.902G> A (p.Arg301His) single nucleotide variant Pathogenic rs74339576 GRCh37 Chromosome 11, 17408737: 17408737
9 KCNJ11 KCNJ11, GLY156ARG undetermined variant Pathogenic
10 ABCC8 NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln) single nucleotide variant Pathogenic rs387906407 GRCh37 Chromosome 11, 17417157: 17417157
11 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
12 ABCC8 ABCC8, IVS, G-A, -1 single nucleotide variant Pathogenic
13 ABCC8 ABCC8, BRANCH POINT, A-G, -20 single nucleotide variant Pathogenic
14 ABCC8 ABCC8, EX35, G-A single nucleotide variant Pathogenic
15 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh37 Chromosome 11, 17418527: 17418527
16 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic rs28938469 GRCh37 Chromosome 11, 17417206: 17417206
17 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh37 Chromosome 11, 17415881: 17415881
18 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh37 Chromosome 11, 17415842: 17415842
19 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh37 Chromosome 11, 17485004: 17485004
20 ABCC8 NM_000352.4(ABCC8): c.4157_4159delCCT (p.Ser1386del) deletion Pathogenic rs387906408 GRCh37 Chromosome 11, 17417438: 17417440
21 ABCC8 ABCC8, -64C-G single nucleotide variant Pathogenic
22 ABCC8 NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 GRCh37 Chromosome 11, 17448671: 17448671
23 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852676 GRCh37 Chromosome 11, 17417399: 17417399
24 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
25 ABCC8 ABCC8, EX13DEL deletion Pathogenic
26 ABCC8 ABCC8, 1-BP DUP, 512T duplication Pathogenic
27 ABCC8 ABCC8, IVS8, A-G, -1013 single nucleotide variant Pathogenic
28 ABCC8 NM_000352.4(ABCC8): c.3509delT (p.Leu1170Argfs) deletion Pathogenic rs587783169 GRCh37 Chromosome 11, 17426107: 17426107
29 ABCC8 NM_000352.4(ABCC8): c.2857C> T (p.Gln953Ter) single nucleotide variant Pathogenic/Likely pathogenic rs541269678 GRCh38 Chromosome 11, 17407417: 17407417
30 ABCC8 NM_001287174.1(ABCC8): c.2800C> T (p.Arg934Ter) single nucleotide variant Pathogenic/Likely pathogenic rs570388861 GRCh38 Chromosome 11, 17408415: 17408415
31 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh38 Chromosome 11, 17412716: 17412716
32 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
33 KCNJ11 NM_000525.3(KCNJ11): c.881C> T (p.Thr294Met) single nucleotide variant Pathogenic rs780957825 GRCh38 Chromosome 11, 17387211: 17387211
34 KCNJ11 NM_000525.3(KCNJ11): c.866G> T (p.Gly289Val) single nucleotide variant Likely pathogenic rs797045637 GRCh38 Chromosome 11, 17387226: 17387226
35 KCNJ11 NM_000525.3(KCNJ11): c.866G> C (p.Gly289Ala) single nucleotide variant Likely pathogenic rs797045637 GRCh37 Chromosome 11, 17408773: 17408773
36 KCNJ11 NM_000525.3(KCNJ11): c.79C> T (p.Arg27Cys) single nucleotide variant Likely pathogenic rs752507753 GRCh37 Chromosome 11, 17409560: 17409560
37 ABCC8 NM_000352.4(ABCC8): c.4119+1G> A single nucleotide variant Pathogenic rs797045211 GRCh38 Chromosome 11, 17396915: 17396915
38 ABCC8 NM_000352.4(ABCC8): c.2117-1G> A single nucleotide variant Pathogenic rs797045207 GRCh37 Chromosome 11, 17448702: 17448702
39 ABCC8 NM_000352.4(ABCC8): c.563A> G (p.Asn188Ser) single nucleotide variant Pathogenic/Likely pathogenic rs797045213 GRCh38 Chromosome 11, 17463454: 17463454
40 ABCC8 NM_000352.4(ABCC8): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic/Likely pathogenic rs761749884 GRCh37 Chromosome 11, 17491729: 17491729
41 KCNJ11 NM_000525.3(KCNJ11): c.154C> T (p.Gln52Ter) single nucleotide variant Likely pathogenic rs879253757 GRCh38 Chromosome 11, 17387938: 17387938
42 ABCC8 NM_000352.4(ABCC8): c.3748C> T (p.Arg1250Ter) single nucleotide variant Pathogenic rs1057516281 GRCh37 Chromosome 11, 17419891: 17419891
43 ABCC8 NM_000352.4(ABCC8): c.1879delC (p.His627Metfs) deletion Pathogenic/Likely pathogenic rs1057516860 GRCh37 Chromosome 11, 17450156: 17450156
44 ABCC8 NM_000352.4(ABCC8): c.1630+1G> T single nucleotide variant Pathogenic rs773306994 GRCh38 Chromosome 11, 17442719: 17442719
45 ABCC8 NM_000352.4(ABCC8): c.584dupA (p.Tyr195Terfs) duplication Pathogenic rs1057517199 GRCh38 Chromosome 11, 17461821: 17461821
46 KCNJ11 NM_000525.3(KCNJ11): c.868G> A (p.Val290Met) single nucleotide variant Likely pathogenic rs750414160 GRCh37 Chromosome 11, 17408771: 17408771
47 KCNJ11 NM_000525.3(KCNJ11): c.406C> T (p.Arg136Cys) single nucleotide variant Pathogenic rs766891274 GRCh38 Chromosome 11, 17387686: 17387686
48 ABCC8 NM_000352.4(ABCC8): c.4450G> A (p.Gly1484Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17415908: 17415908
49 ABCC8 NM_000352.4(ABCC8): c.4432G> A (p.Gly1478Arg) single nucleotide variant Pathogenic rs72559715 GRCh38 Chromosome 11, 17394379: 17394379
50 ABCC8 NM_000352.4(ABCC8): c.4376T> G (p.Leu1459Arg) single nucleotide variant Pathogenic rs971604271 GRCh37 Chromosome 11, 17416754: 17416754

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 9.63 ABCC8 KCNJ11 SST
2 negative regulation of insulin secretion GO:0046676 9.43 ABCC8 KCNJ11
3 positive regulation of mitotic nuclear division GO:0045840 9.4 IGF2 INS
4 positive regulation of glycogen biosynthetic process GO:0045725 9.37 IGF2 INS
5 regulation of insulin secretion GO:0050796 9.33 ABCC8 HNF4A KCNJ11
6 positive regulation of insulin receptor signaling pathway GO:0046628 9.32 IGF2 INS
7 negative regulation of blood vessel diameter GO:0097756 9.26 CHGA INS
8 glucose metabolic process GO:0006006 9.13 IGF2 INS KCNJ11
9 regulation of 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 9.26 IGF2 INS
2 insulin-like growth factor receptor binding GO:0005159 9.16 IGF2 INS
3 hormone activity GO:0005179 9.02 GAST IGF2 INS SCT SST
4 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 ABCC8 KCNJ11

Sources for Hyperinsulinemic Hypoglycemia, Familial, 2

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