HHF1
MCID: HYP304
MIFTS: 56

Hyperinsulinemic Hypoglycemia, Familial, 1 (HHF1)

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 1

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 1:

Name: Hyperinsulinemic Hypoglycemia, Familial, 1 58 13 74
Persistent Hyperinsulinemic Hypoglycemia of Infancy 58 76 30 6
Familial Hyperinsulinemic Hypoglycemia 1 12 76 15
Hhf1 58 12 76
Congenital Hyperinsulinism 76 74
Phhi 58 76
Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency, Diazoxide-Resistant Focal Form 60
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency 60
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency 60
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 58
Diazoxide-Resistant Focal Hyperinsulinism Due to Sur1 Deficiency 60
Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis 58
Autosomal Recessive Hyperinsulinism Due to Sur1 Deficiency 60
Persistent Hyperinsulinemic Hypoglycemia of Infancy; Phhi 58
Autosomal Dominant Hyperinsulinism Due to Sur1 Deficiency 60
Hypoglycemia, Hyperinsulinemic, Familial, Type 1 41
Hypoglycemia, Hyperinsulinemic, of Infancy 58
Nesidioblastosis of Pancreas 58
Hyperinsulinism, Congenital 58

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant hyperinsulinism due to sur1 deficiency
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
diazoxide-resistant focal hyperinsulinism due to sur1 deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

33
hyperinsulinemic hypoglycemia, familial, 1:
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Hyperinsulinemic Hypoglycemia, Familial, 1

Genetics Home Reference : 26 Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 1, also known as persistent hyperinsulinemic hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia, familial, 2 and beckwith-wiedemann syndrome. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 1 is ABCC8 (ATP Binding Cassette Subfamily C Member 8), and among its related pathways/superpathways are Development NOTCH1-mediated pathway for NF-KB activity modulation and PKMTs methylate histone lysines. The drugs Somatostatin and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include brain, pancreas and pancreatic islet, and related phenotypes are hyperhidrosis and pallor

Disease Ontology : 12 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has material basis in mutation in the ABCC8 gene on chromosome 11p15.

OMIM : 58 Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998). (256450)

UniProtKB/Swiss-Prot : 76 Familial hyperinsulinemic hypoglycemia 1: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.

Wikipedia : 77 Congenital hyperinsulinism (CHI) is a medical term referring to a variety of congenital disorders in... more...

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 1

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 2 32.4 HIST1H4C HIST1H4I
2 beckwith-wiedemann syndrome 29.9 ABCC8 H19
3 hyperinsulinemic hypoglycemia, familial, 3 11.7
4 hyperinsulinemic hypoglycemia, familial, 5 11.7
5 hyperinsulinemic hypoglycemia, familial, 4 11.7
6 hyperinsulinemic hypoglycemia, familial, 6 11.4
7 hyperinsulinemic hypoglycemia 10.6
8 hypoglycemia 10.6
9 hyperinsulinism 10.5
10 neuroblastoma 10.1
11 insulinoma 10.1
12 glucose intolerance 10.1
13 hepatitis 10.1
14 hypertrophic cardiomyopathy 10.1
15 kabuki syndrome 1 10.0
16 acute insulin response 10.0
17 diabetes mellitus 10.0
18 hepatoblastoma 10.0
19 poland syndrome 9.9
20 septooptic dysplasia 9.9
21 costello syndrome 9.9
22 enterocolitis 9.9
23 galactokinase deficiency 9.9
24 retinitis pigmentosa 9.9
25 insulin-like growth factor i 9.9
26 leber congenital amaurosis 4 9.9
27 maturity-onset diabetes of the young 9.9
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
29 drug-induced hepatitis 9.9
30 neonatal diabetes mellitus 9.9
31 patulous eustachian tube 9.9
32 cholestasis 9.9
33 turner syndrome 9.9
34 retinitis 9.9
35 hyperglycemia 9.9
36 perinatal necrotizing enterocolitis 9.9
37 hypopituitarism 9.9
38 degos 'en cocarde' erythrokeratoderma 9.9
39 monogenic diabetes 9.9
40 mosaic genome-wide paternal uniparental disomy 9.9

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 1:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 1

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 1

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 1:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
2 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
3 coma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001259
4 hyperinsulinemic hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000825
5 lethargy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001254
6 neonatal hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001998
7 tachycardia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001649
8 pancreatic islet-cell hyperplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004510
9 progressive neurologic deterioration 60 33 hallmark (90%) Very frequent (99-80%) HP:0002344
10 hypoketotic hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001985
11 abnormal circulating fatty-acid concentration 33 hallmark (90%) HP:0004359
12 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
13 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
14 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
15 diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002014
16 vitamin b1 deficiency 60 33 frequent (33%) Frequent (79-30%) HP:0100503
17 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
18 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
19 agitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0000713
20 large for gestational age 60 33 occasional (7.5%) Occasional (29-5%) HP:0001520
21 secondary growth hormone deficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0008240
22 decreased circulating cortisol level 60 33 occasional (7.5%) Occasional (29-5%) HP:0008163
23 drowsiness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002329
24 abnormal brain fdg positron emission tomography 60 33 occasional (7.5%) Occasional (29-5%) HP:0012658
25 intellectual disability 33 HP:0001249
26 cognitive impairment 60 Frequent (79-30%)
27 hyperinsulinemia 60 Very frequent (99-80%)
28 hypoglycemic seizures 33 HP:0002173
29 abnormality of fatty-acid metabolism 60 Very frequent (99-80%)
30 hypoglycemic coma 33 HP:0001325

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia

Growth Other:
large for gestational age

Abdomen Pancreas:
islet cell hyperplasia, diffuse
focal adenomatous hyperplasia of beta cells (uncommon)

Endocrine Features:
hyperinsulinemic hypoglycemia
insulin deficiency (may develop later in life)
diabetes (may develop later in life)

Neurologic Central Nervous System:
seizures, hypoglycemic
loss of consciousness due to hypoglycemia
mental retardation due to repeated episodes of hypoglycemia

Clinical features from OMIM:

256450

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 1

Drugs for Hyperinsulinemic Hypoglycemia, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 83)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 38916-34-6, 51110-01-1 53481605
2
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 83150-76-9 6400441 383414
3
lanreotide Approved Phase 4 108736-35-2
4
Liraglutide Approved Phase 4 204656-20-2 44147092
5
Verapamil Approved Phase 4 52-53-9 2520
6
Acarbose Approved, Investigational Phase 4,Phase 2 56180-94-0 441184
7
Pasireotide Approved Phase 4,Phase 2,Phase 1 396091-73-9 9941444
8
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
9 Hormones Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
10 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
11 Angiopeptin Phase 4
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
13 Incretins Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
14 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
15 Vasodilator Agents Phase 4,Phase 2,Phase 3
16 Cardiac Glycosides Phase 4,Phase 2
17 Calcium, Dietary Phase 4
18 Sitagliptin Phosphate Phase 4
19 Dipeptidyl-Peptidase IV Inhibitors Phase 4
20
protease inhibitors Phase 4
21 Anti-Arrhythmia Agents Phase 4,Early Phase 1
22 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
23 calcium channel blockers Phase 4
24 HIV Protease Inhibitors Phase 4
25
Diazoxide Approved Phase 2, Phase 3 364-98-7 3019
26
Glucagon Approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 16941-32-5
27
Dopamine Approved Phase 3,Phase 2,Phase 1 62-31-7, 51-61-6 681
28 Antihypertensive Agents Phase 2, Phase 3
29 Glucagon-Like Peptide 1 Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Early Phase 1
31 Dopamine Agents Phase 3,Phase 2,Phase 1
32 Dihydroxyphenylalanine Phase 3,Phase 2,Phase 1
33
Exenatide Approved, Investigational Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 141758-74-9 15991534
34
Pancrelipase Approved, Investigational Phase 2,Not Applicable 53608-75-6
35
tannic acid Approved Phase 1, Phase 2 1401-55-4
36
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
37 Gastrointestinal Agents Phase 2,Not Applicable,Early Phase 1
38 Insulin, Globin Zinc Phase 1, Phase 2,Not Applicable,Early Phase 1
39 insulin Phase 1, Phase 2,Not Applicable,Early Phase 1
40 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
41 Anti-Obesity Agents Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
42 Pharmaceutical Solutions Phase 2
43 pancreatin Phase 2,Not Applicable
44 Plasma Substitutes Phase 1, Phase 2
45 Radiopharmaceuticals Phase 1, Phase 2
46 lysine Phase 1, Phase 2
47 Blood Substitutes Phase 1, Phase 2
48 Polygeline Phase 1, Phase 2
49 Immunologic Factors Phase 1, Phase 2,Early Phase 1
50
Lactitol Investigational Phase 1 585-86-4, 585-88-6 493591

Interventional clinical trials:

(show all 41)
# 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 Open-label Trial Evaluating Efficacy and Safety of Dasiglucagon in Children With Congenital Hyperinsulinism Recruiting NCT03777176 Phase 3 dasiglucagon
6 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
7 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
8 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
9 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
10 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
11 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
12 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Completed NCT00674440 Phase 2 F-DOPA
13 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
14 Efficacy, Tolerability and Pharmacokinetics of Subcutaneous Exendin (9-39) in Patients With Post Bariatric Hypoglycemia Completed NCT02771574 Phase 2 Exendin (9-39)
15 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
16 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Recruiting NCT02685852 Phase 2 Exenatide;Acarbose;Placebo
17 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, Phase 2 exendin-(9-39)
18 68Ga-NODAGA-exendin-4 PET/CT for Diagnostic Imaging in AHH Enrolling by invitation NCT03189953 Phase 1, Phase 2
19 Glucagon Ready to Use (RTU) in Subjects With Hyperinsulinemic Hypoglycemia After Bariatric Surgery Not yet recruiting NCT03770637 Phase 2 Glucagon RTU
20 Pasireotide in Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
21 Sirolimus for the Treatment of Hyperinsulinism Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
22 Role of GLP-1 in Hyperinsulinemic Hypoglycemia Post-bariatric Surgery Unknown status NCT02550145 Phase 1 Exendin (9-39)
23 Evaluation of Single Ascending Doses of Subcutaneous Exendin 9-39 in Patients With Post-Bariatric Hypoglycemia Unknown status NCT02996812 Phase 1 Exendin (9-39)
24 Fluorodopa F 18 in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
25 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
26 GLP1R-imaging in Hypoglycemia Recruiting NCT03182192 Phase 1
27 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
28 Etiology, Assessment and Treatment of Post-gastric Bypass Severe Hypoglycemia Unknown status NCT01865760 Not Applicable Octreotide;Synthetic Exendin 9-39
29 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
30 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
31 Post-Gastric Bypass Hypoglycemia Completed NCT01933490 Not Applicable
32 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541 Not Applicable
33 Understanding Hypoglycaemia After Bariatric Surgery Completed NCT03609632 Not Applicable
34 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Completed NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
35 GLP-1 Receptor Expression in CHI Recruiting NCT03768518
36 Bionic Pancreas in Children With Hyperinsulinism and Post-Pancreatectomy Diabetes Recruiting NCT03303196 Not Applicable
37 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222 Not Applicable
38 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
39 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
40 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
41 Compassionate Use of SOM230 for Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 1

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 1

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 1:

# Genetic test Affiliating Genes
1 Persistent Hyperinsulinemic Hypoglycemia of Infancy 30 ABCC8

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 1

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 1:

42
Brain, Pancreas, Pancreatic Islet, B Cells

Publications for Hyperinsulinemic Hypoglycemia, Familial, 1

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 1:

(show top 50) (show all 75)
# 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
A case of persistent hyperinsulinemic hypoglycemia of infancy successfully managed with subcutaneous octreotide injection and nocturnal intravenous glucose supply. ( 24790349 )
2007
21
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy. ( 16459471 )
2005
22
Growth restriction and exendin 4 promote endocrine expression in cultured islet cells derived from patients with persistent hyperinsulinemic hypoglycemia of infancy (PHHI). ( 16353670 )
2005
23
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
24
Persistent hyperinsulinemic hypoglycemia of infancy - nesidioblastosis. ( 15321046 )
2004
25
Megestrol acetate promotes euglycemia and appetite in a child with persistent hyperinsulinemic hypoglycemia of infancy. ( 15124853 )
2004
26
Persistent hyperinsulinemic hypoglycemia of infancy. ( 14518075 )
2003
27
Persistent hyperinsulinemic hypoglycemia of infancy in 38 children. ( 12939679 )
2003
28
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. ( 12606521 )
2003
29
Laparoscopic identification and removal of focal lesions in persistent hyperinsulinemic hypoglycemia of infancy. ( 14689291 )
2003
30
Early brain atrophy in persistent hyperinsulinemic hypoglycemia of infancy. ( 12410202 )
2002
31
The association of leukocyte adhesion defect type I and persistent hyperinsulinemic hypoglycemia of infancy in a Saudi Arabian family. ( 12186366 )
2002
32
Persistent hyperinsulinemic hypoglycemia of infancy: experience at Siriraj Hospital. ( 12403226 )
2002
33
ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. ( 12199344 )
2002
34
Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy. ( 11912517 )
2002
35
Persistent hyperinsulinemic hypoglycemia of infancy--successful therapy with nifedipine. ( 12003307 )
2002
36
Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 11443431 )
2001
37
The focal form of persistent hyperinsulinemic hypoglycemia of infancy. ( 11272187 )
2001
38
Focal or diffuse lesions in persistent hyperinsulinemic hypoglycemia of infancy: concerns about interpretation of intraoperative frozen sections. ( 11178629 )
2001
39
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. ( 11226335 )
2001
40
The molecular basis of persistent hyperinsulinemic hypoglycemia of infancy and its pathologic substrates. ( 10664155 )
2000
41
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
42
Persistent hyperinsulinemic hypoglycemia of infancy: long-term outcome following subtotal pancreatectomy. ( 10689636 )
2000
43
Characterization of genes encoding the pancreatic beta-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients. ( 11228046 )
2000
44
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. ( 10993895 )
2000
45
Histologic findings in persistent hyperinsulinemic hypoglycemia of infancy: Australian experience. ( 11000331 )
2000
46
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
47
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. ( 10334322 )
1999
48
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
49
Focal and Diffuse Beta Cell Changes in Persistent Hyperinsulinemic Hypoglycemia of Infancy. ( 12114766 )
1999
50
Combined raw cornstarch and nifedipine as an additional treatment in persistent hyperinsulinemic hypoglycemia of infancy. ( 10730516 )
1999

Variations for Hyperinsulinemic Hypoglycemia, Familial, 1

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 1:

76 (show top 50) (show all 71)
# Symbol AA change Variation ID SNP ID
1 ABCC8 p.Gly716Val VAR_000100 rs72559723
2 ABCC8 p.Arg1352Pro VAR_008537 rs28936370
3 ABCC8 p.Arg1420Cys VAR_008539 rs28938469
4 ABCC8 p.Arg1493Trp VAR_008540 rs28936371
5 ABCC8 p.Arg74Gln VAR_008639 rs72559734
6 ABCC8 p.His125Gln VAR_008640 rs60637558
7 ABCC8 p.Val187Asp VAR_008641 rs137852672
8 ABCC8 p.Asn188Ser VAR_008642 rs797045213
9 ABCC8 p.Asn406Asp VAR_008644 rs72559728
10 ABCC8 p.Phe591Leu VAR_008646 rs72559726
11 ABCC8 p.Thr1138Met VAR_008649 rs201351976
12 ABCC8 p.Arg1214Gln VAR_008650 rs367850779
13 ABCC8 p.Gly1378Arg VAR_008653 rs925231098
14 ABCC8 p.Gly1381Ser VAR_008654 rs773448052
15 ABCC8 p.Arg1393His VAR_008655 rs769279368
16 ABCC8 p.Gly1478Arg VAR_008656 rs72559715
17 ABCC8 p.Val1360Met VAR_015007
18 ABCC8 p.Arg1436Gln VAR_015008 rs387906407
19 ABCC8 p.Glu1506Lys VAR_015009 rs137852671
20 ABCC8 p.Leu1543Pro VAR_015010 rs72559713
21 ABCC8 p.Gly7Arg VAR_031349 rs781059815
22 ABCC8 p.Val21Asp VAR_031350 rs200670692
23 ABCC8 p.Phe27Ser VAR_031351
24 ABCC8 p.Gly70Glu VAR_031352
25 ABCC8 p.Arg74Trp VAR_031353 rs201682634
26 ABCC8 p.Gly111Arg VAR_031355 rs761749884
27 ABCC8 p.Ala116Pro VAR_031356 rs72559731
28 ABCC8 p.Met233Arg VAR_031357
29 ABCC8 p.Asp310Asn VAR_031358 rs769569410
30 ABCC8 p.Cys418Arg VAR_031359 rs67254669
31 ABCC8 p.Arg495Gln VAR_031360 rs142060129
32 ABCC8 p.Glu501Lys VAR_031361 rs372307320
33 ABCC8 p.Leu503Pro VAR_031362
34 ABCC8 p.Leu508Pro VAR_031363 rs72559727
35 ABCC8 p.Pro551Arg VAR_031364
36 ABCC8 p.Arg620Cys VAR_031365 rs58241708
37 ABCC8 p.Phe686Ser VAR_031366
38 ABCC8 p.Lys719Thr VAR_031367
39 ABCC8 p.Arg841Gly VAR_031368
40 ABCC8 p.Lys889Thr VAR_031369 rs761862121
41 ABCC8 p.Ser956Phe VAR_031370 rs72559721
42 ABCC8 p.Thr1130Pro VAR_031371
43 ABCC8 p.Leu1147Arg VAR_031372 rs126251751
44 ABCC8 p.Arg1214Trp VAR_031373 rs139964066
45 ABCC8 p.Asn1295Lys VAR_031374 rs542157938
46 ABCC8 p.Lys1336Asn VAR_031375 rs67767715
47 ABCC8 p.Gly1342Glu VAR_031376
48 ABCC8 p.Leu1349Gln VAR_031377
49 ABCC8 p.Lys1384Gln VAR_031378
50 ABCC8 p.Ser1386Phe VAR_031379 rs72559718

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 1:

6 (show top 50) (show all 408)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC8 NM_000352.4(ABCC8): c.1332+4del deletion Conflicting interpretations of pathogenicity rs587783164 GRCh37 Chromosome 11, 17470059: 17470059
2 ABCC8 NM_000352.4(ABCC8): c.1332+4del deletion Conflicting interpretations of pathogenicity rs587783164 GRCh38 Chromosome 11, 17448512: 17448512
3 ABCC8 NM_000352.4(ABCC8): c.1686C> T (p.His562=) single nucleotide variant Benign rs1799857 GRCh37 Chromosome 11, 17452492: 17452492
4 ABCC8 NM_000352.4(ABCC8): c.1686C> T (p.His562=) single nucleotide variant Benign rs1799857 GRCh38 Chromosome 11, 17430945: 17430945
5 ABCC8 NM_000352.4(ABCC8): c.1947G> A (p.Lys649=) single nucleotide variant Benign rs1799858 GRCh37 Chromosome 11, 17449929: 17449929
6 ABCC8 NM_000352.4(ABCC8): c.1947G> A (p.Lys649=) single nucleotide variant Benign rs1799858 GRCh38 Chromosome 11, 17428382: 17428382
7 ABCC8 NM_000352.4(ABCC8): c.2485C> T (p.Leu829=) single nucleotide variant Benign rs1805036 GRCh37 Chromosome 11, 17434284: 17434284
8 ABCC8 NM_000352.4(ABCC8): c.2485C> T (p.Leu829=) single nucleotide variant Benign rs1805036 GRCh38 Chromosome 11, 17412737: 17412737
9 ABCC8 NM_000352.4(ABCC8): c.3509del deletion Pathogenic rs587783169 GRCh37 Chromosome 11, 17426107: 17426107
10 ABCC8 NM_000352.4(ABCC8): c.3509del deletion Pathogenic rs587783169 GRCh38 Chromosome 11, 17404560: 17404560
11 ABCC8 NM_000352.4(ABCC8): c.3819G> A (p.Arg1273=) single nucleotide variant Benign rs1799859 GRCh37 Chromosome 11, 17419279: 17419279
12 ABCC8 NM_000352.4(ABCC8): c.3819G> A (p.Arg1273=) single nucleotide variant Benign rs1799859 GRCh38 Chromosome 11, 17397732: 17397732
13 ABCC8 NM_000352.4(ABCC8): c.4431C> T (p.Gly1477=) single nucleotide variant Conflicting interpretations of pathogenicity rs145673861 GRCh37 Chromosome 11, 17415927: 17415927
14 ABCC8 NM_000352.4(ABCC8): c.4431C> T (p.Gly1477=) single nucleotide variant Conflicting interpretations of pathogenicity rs145673861 GRCh38 Chromosome 11, 17394380: 17394380
15 ABCC8 NM_000352.4(ABCC8): c.878A> C (p.His293Pro) single nucleotide variant Uncertain significance rs587783175 GRCh37 Chromosome 11, 17482168: 17482168
16 ABCC8 NM_000352.4(ABCC8): c.878A> C (p.His293Pro) single nucleotide variant Uncertain significance rs587783175 GRCh38 Chromosome 11, 17460621: 17460621
17 ABCC8 NM_000352.4(ABCC8): c.4628T> C (p.Leu1543Pro) single nucleotide variant Likely pathogenic rs72559713 GRCh38 Chromosome 11, 17393109: 17393109
18 ABCC8 NM_000352.4(ABCC8): c.4628T> C (p.Leu1543Pro) single nucleotide variant Likely pathogenic rs72559713 GRCh37 Chromosome 11, 17414656: 17414656
19 ABCC8 NM_000352.4(ABCC8): c.4411G> A (p.Asp1471Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72559716 GRCh37 Chromosome 11, 17416719: 17416719
20 ABCC8 NM_000352.4(ABCC8): c.4411G> A (p.Asp1471Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72559716 GRCh38 Chromosome 11, 17395172: 17395172
21 ABCC8 NM_000352.4(ABCC8): c.3124_3126delACCinsCAGCCAGGAACTG (p.Thr1042Glnfs) indel Likely pathogenic rs786204542 GRCh38 Chromosome 11, 17406924: 17406926
22 ABCC8 NM_000352.4(ABCC8): c.3124_3126delACCinsCAGCCAGGAACTG (p.Thr1042Glnfs) indel Likely pathogenic rs786204542 GRCh37 Chromosome 11, 17428471: 17428473
23 ABCC8 NM_000352.4(ABCC8): c.2857C> T (p.Gln953Ter) single nucleotide variant Pathogenic/Likely pathogenic rs541269678 GRCh38 Chromosome 11, 17407417: 17407417
24 ABCC8 NM_000352.4(ABCC8): c.2857C> T (p.Gln953Ter) single nucleotide variant Pathogenic/Likely pathogenic rs541269678 GRCh37 Chromosome 11, 17428964: 17428964
25 ABCC8 NM_001287174.1(ABCC8): c.2800C> T (p.Arg934Ter) single nucleotide variant Likely pathogenic rs570388861 GRCh37 Chromosome 11, 17429962: 17429962
26 ABCC8 NM_001287174.1(ABCC8): c.2800C> T (p.Arg934Ter) single nucleotide variant Likely pathogenic rs570388861 GRCh38 Chromosome 11, 17408415: 17408415
27 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh38 Chromosome 11, 17412716: 17412716
28 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh37 Chromosome 11, 17434263: 17434263
29 ABCC8 NM_000352.4(ABCC8): c.2124_2127delGACT (p.Thr709Terfs) deletion Likely pathogenic rs786204717 GRCh38 Chromosome 11, 17427144: 17427147
30 ABCC8 NM_000352.4(ABCC8): c.2124_2127delGACT (p.Thr709Terfs) deletion Likely pathogenic rs786204717 GRCh37 Chromosome 11, 17448691: 17448694
31 ABCC8 NM_000352.4(ABCC8): c.2116+2T> C single nucleotide variant Likely pathogenic rs786204676 GRCh38 Chromosome 11, 17427865: 17427865
32 ABCC8 NM_000352.4(ABCC8): c.2116+2T> C single nucleotide variant Likely pathogenic rs786204676 GRCh37 Chromosome 11, 17449412: 17449412
33 ABCC8 NM_000352.4(ABCC8): c.1678G> A (p.Val560Met) single nucleotide variant Likely benign rs4148619 GRCh38 Chromosome 11, 17430953: 17430953
34 ABCC8 NM_000352.4(ABCC8): c.1678G> A (p.Val560Met) single nucleotide variant Likely benign rs4148619 GRCh37 Chromosome 11, 17452500: 17452500
35 ABCC8 NM_000352.4(ABCC8): c.291-2A> G single nucleotide variant Likely pathogenic rs786204695 GRCh38 Chromosome 11, 17470224: 17470224
36 ABCC8 NM_000352.4(ABCC8): c.291-2A> G single nucleotide variant Likely pathogenic rs786204695 GRCh37 Chromosome 11, 17491771: 17491771
37 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
38 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh38 Chromosome 11, 17395888: 17395890
39 ABCC8 NM_000352.4(ABCC8) duplication Likely pathogenic rs797045212 GRCh37 Chromosome 11, 17415822: 17415842
40 ABCC8 NM_000352.4(ABCC8) duplication Likely pathogenic rs797045212 GRCh38 Chromosome 11, 17394275: 17394295
41 ABCC8 NM_000352.4(ABCC8): c.4119+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs797045211 GRCh38 Chromosome 11, 17396915: 17396915
42 ABCC8 NM_000352.4(ABCC8): c.4119+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs797045211 GRCh37 Chromosome 11, 17418462: 17418462
43 ABCC8 NM_000352.4(ABCC8): c.2117-1G> A single nucleotide variant Pathogenic rs797045207 GRCh37 Chromosome 11, 17448702: 17448702
44 ABCC8 NM_000352.4(ABCC8): c.2117-1G> A single nucleotide variant Pathogenic rs797045207 GRCh38 Chromosome 11, 17427155: 17427155
45 ABCC8 NM_000352.4(ABCC8): c.1858C> T (p.Arg620Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs58241708 GRCh38 Chromosome 11, 17428630: 17428630
46 ABCC8 NM_000352.4(ABCC8): c.1858C> T (p.Arg620Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs58241708 GRCh37 Chromosome 11, 17450177: 17450177
47 ABCC8 NM_000352.4(ABCC8): c.1532T> C (p.Leu511Pro) single nucleotide variant Likely pathogenic rs797045206 GRCh37 Chromosome 11, 17464365: 17464365
48 ABCC8 NM_000352.4(ABCC8): c.1532T> C (p.Leu511Pro) single nucleotide variant Likely pathogenic rs797045206 GRCh38 Chromosome 11, 17442818: 17442818
49 ABCC8 NM_000352.4(ABCC8): c.1252T> C (p.Cys418Arg) single nucleotide variant Uncertain significance rs67254669 GRCh38 Chromosome 11, 17448596: 17448596
50 ABCC8 NM_000352.4(ABCC8): c.1252T> C (p.Cys418Arg) single nucleotide variant Uncertain significance rs67254669 GRCh37 Chromosome 11, 17470143: 17470143

Expression for Hyperinsulinemic Hypoglycemia, Familial, 1

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 1.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 1

Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 HIST1H4C HIST1H4I
2
Show member pathways
11.11 HIST1H4C HIST1H4I
3 10.21 HIST1H4C HIST1H4I

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 1

Cellular components related to Hyperinsulinemic Hypoglycemia, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.26 HIST1H4C HIST1H4I
2 nucleosome GO:0000786 9.16 HIST1H4C HIST1H4I
3 nuclear chromosome GO:0000228 8.96 HIST1H4C HIST1H4I
4 nuclear nucleosome GO:0000788 8.62 HIST1H4C HIST1H4I

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleosome assembly GO:0006334 9.54 HIST1H4C HIST1H4I
2 regulation of megakaryocyte differentiation GO:0045652 9.52 HIST1H4C HIST1H4I
3 double-strand break repair via nonhomologous end joining GO:0006303 9.51 HIST1H4C HIST1H4I
4 regulation of gene silencing by miRNA GO:0060964 9.49 HIST1H4C HIST1H4I
5 negative regulation of gene expression, epigenetic GO:0045814 9.48 HIST1H4C HIST1H4I
6 protein heterotetramerization GO:0051290 9.46 HIST1H4C HIST1H4I
7 CENP-A containing nucleosome assembly GO:0034080 9.43 HIST1H4C HIST1H4I
8 DNA-templated transcription, initiation GO:0006352 9.4 HIST1H4C HIST1H4I
9 chromatin silencing at rDNA GO:0000183 9.37 HIST1H4C HIST1H4I
10 DNA replication-dependent nucleosome assembly GO:0006335 9.32 HIST1H4C HIST1H4I
11 telomere capping GO:0016233 9.26 HIST1H4C HIST1H4I
12 telomere organization GO:0032200 9.16 HIST1H4C HIST1H4I
13 DNA replication-independent nucleosome assembly GO:0006336 8.96 HIST1H4C HIST1H4I
14 negative regulation of megakaryocyte differentiation GO:0045653 8.62 HIST1H4C HIST1H4I

Sources for Hyperinsulinemic Hypoglycemia, Familial, 1

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