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 dominant inheritance autosomal recessive 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 lanreotide 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 45)
# 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 smith-magenis syndrome 10.1
10 ocular motor apraxia 10.1
11 insulinoma 10.1
12 glucose intolerance 10.1
13 patulous eustachian tube 10.1
14 hyperinsulinism 10.1
15 diabetes mellitus 10.1
16 hepatitis 10.1
17 hypertrophic cardiomyopathy 10.1
18 kabuki syndrome 1 10.0
19 hemihyperplasia, isolated 10.0
20 acute insulin response 10.0
21 maturity-onset diabetes of the young 10.0
22 hepatoblastoma 10.0
23 poland syndrome 9.8
24 septooptic dysplasia 9.8
25 costello syndrome 9.8
26 enterocolitis 9.8
27 galactokinase deficiency 9.8
28 retinitis pigmentosa 9.8
29 insulin-like growth factor i 9.8
30 leber congenital amaurosis 4 9.8
31 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 9.8
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
33 drug-induced hepatitis 9.8
34 glycogen storage disease 9.8
35 neonatal diabetes mellitus 9.8
36 cholestasis 9.8
37 turner syndrome 9.8
38 retinitis 9.8
39 hyperglycemia 9.8
40 perinatal necrotizing enterocolitis 9.8
41 hypopituitarism 9.8
42 degos 'en cocarde' erythrokeratoderma 9.8
43 heparin-induced thrombocytopenia 9.8
44 monogenic diabetes 9.8
45 mosaic genome-wide paternal uniparental disomy 9.8

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
lanreotide Approved Phase 4 108736-35-2
3
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 83150-76-9 6400441 383414
4
Pasireotide Approved Phase 4,Phase 2,Phase 1 396091-73-9 9941444
5
Liraglutide Approved Phase 4 204656-20-2 44147092
6
Acarbose Approved, Investigational Phase 4,Phase 2 56180-94-0 441184
7
Verapamil Approved Phase 4 52-53-9 2520
8
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
9 Angiopeptin Phase 4
10 Hormones Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
12 Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
13 Hypoglycemic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
14 Incretins Phase 4,Phase 1,Phase 2,Not Applicable,Early Phase 1
15 Vasodilator Agents Phase 4,Phase 2,Phase 3
16 Sitagliptin Phosphate Phase 4
17 Calcium, Dietary Phase 4
18
protease inhibitors Phase 4
19 HIV Protease Inhibitors Phase 4
20 Anti-Arrhythmia Agents Phase 4,Early Phase 1
21 Dipeptidyl-Peptidase IV Inhibitors Phase 4
22 Glycoside Hydrolase Inhibitors Phase 4,Phase 2
23 Cardiac Glycosides Phase 4,Phase 2
24 calcium channel blockers 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
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
36
tannic acid Approved Phase 1, Phase 2 1401-55-4
37 Anti-Obesity Agents Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
38 Gastrointestinal Agents Phase 2,Not Applicable,Early Phase 1
39 Insulin, Globin Zinc Phase 1, Phase 2,Not Applicable,Early Phase 1
40 insulin Phase 1, Phase 2,Not Applicable,Early Phase 1
41 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
42 Pharmaceutical Solutions Phase 2
43 pancreatin Phase 2,Not Applicable
44 lysine Phase 1, Phase 2
45 Radiopharmaceuticals Phase 1, Phase 2
46 Plasma Substitutes 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 1 585-88-6, 585-86-4 493591

Interventional clinical trials:

(show all 43)
# 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 Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon in Children With Congenital Hyperinsulinism Enrolling by invitation NCT03941236 Phase 3 dasiglucagon
8 68Ga-NODAGA-exendin-4 PET/CT for Diagnostic Imaging in AHH Unknown status NCT03189953 Phase 1, Phase 2
9 Phase II Safety and Efficacy Study of F-DOPA PET/CT in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
10 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
11 CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
12 Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
13 Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
14 Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism Completed NCT00674440 Phase 2 F-DOPA
15 Sandostatine® LP and Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
16 Efficacy, Tolerability and Pharmacokinetics of Subcutaneous Exendin (9-39) in Patients With Post Bariatric Hypoglycemia Completed NCT02771574 Phase 2 Exendin (9-39)
17 Effect of Gelofusine on GLP1-receptor Imaging Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
18 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Recruiting NCT02685852 Phase 2 Exenatide;Acarbose;Placebo
19 Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia Recruiting NCT00835328 Phase 1, Phase 2 exendin-(9-39)
20 Glucagon Ready to Use (RTU) in Subjects With Hyperinsulinemic Hypoglycemia After Bariatric Surgery Not yet recruiting NCT03770637 Phase 2 Glucagon RTU
21 Pasireotide in Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
22 Sirolimus for the Treatment of Hyperinsulinism Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
23 GLP1R-imaging in Hypoglycemia Unknown status NCT03182192 Phase 1
24 Role of GLP-1 in Hyperinsulinemic Hypoglycemia Post-bariatric Surgery Unknown status NCT02550145 Phase 1 Exendin (9-39)
25 Evaluation of Single Ascending Doses of Subcutaneous Exendin 9-39 in Patients With Post-Bariatric Hypoglycemia Unknown status NCT02996812 Phase 1 Exendin (9-39)
26 Fluorodopa F 18 in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
27 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
28 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
29 Etiology, Assessment and Treatment of Post-gastric Bypass Severe Hypoglycemia Unknown status NCT01865760 Not Applicable Octreotide;Synthetic Exendin 9-39
30 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
31 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
32 Post-Gastric Bypass Hypoglycemia Completed NCT01933490 Not Applicable
33 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541 Not Applicable
34 Understanding Hypoglycaemia After Bariatric Surgery Completed NCT03609632 Not Applicable
35 Hypoglycemia Associated Autonomic Failure in Type 1 Diabetes Mellitus Completed NCT00607646 Early Phase 1 Dehydroepiandrosterone;Placebo
36 GLP-1 Receptor Expression in CHI Recruiting NCT03768518
37 Bionic Pancreas in Children With Hyperinsulinism and Post-Pancreatectomy Diabetes Recruiting NCT03303196 Not Applicable
38 Application of Raw Corn Starch on Patients With Insulinoma Recruiting NCT03930368 Not Applicable
39 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222 Not Applicable
40 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
41 Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
42 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
43 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 88)
# Title Authors Year
1
Tracer Accumulation in Relation to Venous Thrombus on 18F-DOPA PET/CT in a Case of Persistent Hyperinsulinemic Hypoglycemia of Infancy. ( 31057687 )
2019
2
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis. ( 29958183 )
2018
3
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. ( 29087246 )
2017
4
Single incision laparoscopic 90 % pancreatectomy for the treatment of persistent hyperinsulinemic hypoglycemia of infancy. ( 27473008 )
2016
5
Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients. ( 25871929 )
2015
6
Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy. ( 26331229 )
2015
7
Persistent hyperinsulinemic hypoglycemia of infancy: a clinical and pathological study of 19 cases in a single institution. ( 26823758 )
2015
8
Comment on persistent hyperinsulinemic hypoglycemia of infancy. ( 23798817 )
2013
9
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. ( 23273570 )
2013
10
Food aversion among patients with persistent hyperinsulinemic hypoglycemia of infancy. ( 22595568 )
2012
11
Persistent hyperinsulinemic hypoglycemia of infancy: An overview of current concepts. ( 22869973 )
2012
12
Persistent hyperinsulinemic hypoglycemia of infancy. ( 22876564 )
2012
13
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. ( 21978130 )
2012
14
Is octreotide safe for the management of persistent hyperinsulinemic hypoglycemia of infancy? ( 21283963 )
2011
15
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. ( 21956412 )
2011
16
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. ( 21378087 )
2011
17
Laparoscopic near-total pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy: report of two cases. ( 19432529 )
2010
18
Persistent hyperinsulinemic hypoglycemia of infancy associated with congenital neuroblastoma: a case report. ( 20572382 )
2010
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
Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 19159730 )
2009
22
Laparoscopic vs open pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 19433178 )
2009
23
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
24
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. ( 18596924 )
2008
25
A case of persistent hyperinsulinemic hypoglycemia of infancy successfully managed with subcutaneous octreotide injection and nocturnal intravenous glucose supply. ( 24790349 )
2007
26
Growth restriction and exendin 4 promote endocrine expression in cultured islet cells derived from patients with persistent hyperinsulinemic hypoglycemia of infancy (PHHI). ( 16353670 )
2005
27
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy. ( 16459471 )
2005
28
Megestrol acetate promotes euglycemia and appetite in a child with persistent hyperinsulinemic hypoglycemia of infancy. ( 15124853 )
2004
29
Persistent hyperinsulinemic hypoglycemia of infancy - nesidioblastosis. ( 15321046 )
2004
30
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
31
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. ( 15579781 )
2004
32
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. ( 12606521 )
2003
33
Persistent hyperinsulinemic hypoglycemia of infancy in 38 children. ( 12939679 )
2003
34
Persistent hyperinsulinemic hypoglycemia of infancy. ( 14518075 )
2003
35
Laparoscopic identification and removal of focal lesions in persistent hyperinsulinemic hypoglycemia of infancy. ( 14689291 )
2003
36
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. ( 12941782 )
2003
37
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. ( 12559865 )
2003
38
ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. ( 12199344 )
2002
39
Persistent hyperinsulinemic hypoglycemia of infancy: experience at Siriraj Hospital. ( 12403226 )
2002
40
Early brain atrophy in persistent hyperinsulinemic hypoglycemia of infancy. ( 12410202 )
2002
41
Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy. ( 11912517 )
2002
42
Persistent hyperinsulinemic hypoglycemia of infancy--successful therapy with nifedipine. ( 12003307 )
2002
43
The association of leukocyte adhesion defect type I and persistent hyperinsulinemic hypoglycemia of infancy in a Saudi Arabian family. ( 12186366 )
2002
44
Focal or diffuse lesions in persistent hyperinsulinemic hypoglycemia of infancy: concerns about interpretation of intraoperative frozen sections. ( 11178629 )
2001
45
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. ( 11226335 )
2001
46
The focal form of persistent hyperinsulinemic hypoglycemia of infancy. ( 11272187 )
2001
47
Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. ( 11443431 )
2001
48
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
49
The molecular basis of persistent hyperinsulinemic hypoglycemia of infancy and its pathologic substrates. ( 10664155 )
2000
50
Persistent hyperinsulinemic hypoglycemia of infancy: long-term outcome following subtotal pancreatectomy. ( 10689636 )
2000

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 414)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC8 NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln) single nucleotide variant Pathogenic rs387906407 GRCh37 Chromosome 11, 17417157: 17417157
2 ABCC8 NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln) single nucleotide variant Pathogenic rs387906407 GRCh38 Chromosome 11, 17395610: 17395610
3 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
4 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh38 Chromosome 11, 17397055: 17397055
5 ABCC8 NM_000352.4(ABCC8): c.2292-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 17414611: 17414611
6 ABCC8 NM_000352.4(ABCC8): c.2292-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17436158: 17436158
7 ABCC8 NM_000352.4(ABCC8): c.1672-20A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 17430979: 17430979
8 ABCC8 NM_000352.4(ABCC8): c.1672-20A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 17452526: 17452526
9 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh37 Chromosome 11, 17418527: 17418527
10 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh38 Chromosome 11, 17396980: 17396980
11 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28938469 GRCh37 Chromosome 11, 17417206: 17417206
12 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28938469 GRCh38 Chromosome 11, 17395659: 17395659
13 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh37 Chromosome 11, 17415881: 17415881
14 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh38 Chromosome 11, 17394334: 17394334
15 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh37 Chromosome 11, 17415842: 17415842
16 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh38 Chromosome 11, 17394295: 17394295
17 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh37 Chromosome 11, 17485004: 17485004
18 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh38 Chromosome 11, 17463457: 17463457
19 ABCC8 NM_000352.4(ABCC8): c.4157_4159delCCT (p.Ser1386del) deletion Pathogenic rs387906408 GRCh37 Chromosome 11, 17417438: 17417440
20 ABCC8 NM_000352.4(ABCC8): c.4157_4159delCCT (p.Ser1386del) deletion Pathogenic rs387906408 GRCh38 Chromosome 11, 17395891: 17395893
21 ABCC8 NM_000352.4(ABCC8): c.-190C> G single nucleotide variant Pathogenic GRCh38 Chromosome 11, 17476966: 17476966
22 ABCC8 NM_000352.4(ABCC8): c.-190C> G single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17498513: 17498513
23 ABCC8 NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 GRCh37 Chromosome 11, 17448671: 17448671
24 ABCC8 NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 GRCh38 Chromosome 11, 17427124: 17427124
25 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Likely pathogenic rs137852676 GRCh37 Chromosome 11, 17417399: 17417399
26 ABCC8 NM_000352.4(ABCC8): c.413-5G> A single nucleotide variant Uncertain significance rs186946111 GRCh37 Chromosome 11, 17485156: 17485156
27 ABCC8 NM_000352.4(ABCC8): c.413-5G> A single nucleotide variant Uncertain significance rs186946111 GRCh38 Chromosome 11, 17463609: 17463609
28 ABCC8 NM_000352.4(ABCC8): c.4135C> A (p.Arg1379Ser) single nucleotide variant Uncertain significance rs137852673 GRCh37 Chromosome 11, 17417462: 17417462
29 ABCC8 NM_000352.4(ABCC8): c.4135C> A (p.Arg1379Ser) single nucleotide variant Uncertain significance rs137852673 GRCh38 Chromosome 11, 17395915: 17395915
30 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Likely pathogenic rs137852676 GRCh38 Chromosome 11, 17395852: 17395852
31 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
32 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh38 Chromosome 11, 17395611: 17395611
33 ABCC8 NM_000352.4(ABCC8): c.4451G> A (p.Gly1484Glu) single nucleotide variant Likely pathogenic rs193922405 GRCh37 Chromosome 11, 17415907: 17415907
34 ABCC8 NM_000352.4(ABCC8): c.4451G> A (p.Gly1484Glu) single nucleotide variant Likely pathogenic rs193922405 GRCh38 Chromosome 11, 17394360: 17394360
35 ABCC8 NM_000352.4(ABCC8): c.886G> A (p.Gly296Arg) single nucleotide variant Uncertain significance rs148529020 GRCh37 Chromosome 11, 17482160: 17482160
36 ABCC8 NM_000352.4(ABCC8): c.886G> A (p.Gly296Arg) single nucleotide variant Uncertain significance rs148529020 GRCh38 Chromosome 11, 17460613: 17460613
37 ABCC8 NM_000352.4: c.(?_1818)_(1923_?)del deletion Pathogenic
38 ABCC8 NM_000352.4(ABCC8): c.512dup (p.Thr172Hisfs) duplication Pathogenic GRCh38 Chromosome 11, 17463505: 17463505
39 ABCC8 NM_000352.4(ABCC8): c.512dup (p.Thr172Hisfs) duplication Pathogenic GRCh37 Chromosome 11, 17485052: 17485052
40 ABCC8 ABCC8, IVS8, A-G, -1013 single nucleotide variant Pathogenic
41 ABCC8 NM_000352.4(ABCC8): c.1332+4del deletion Conflicting interpretations of pathogenicity rs587783164 GRCh37 Chromosome 11, 17470059: 17470059
42 ABCC8 NM_000352.4(ABCC8): c.1332+4del deletion Conflicting interpretations of pathogenicity rs587783164 GRCh38 Chromosome 11, 17448512: 17448512
43 ABCC8 NM_000352.4(ABCC8): c.1686C> T (p.His562=) single nucleotide variant Benign rs1799857 GRCh37 Chromosome 11, 17452492: 17452492
44 ABCC8 NM_000352.4(ABCC8): c.1686C> T (p.His562=) single nucleotide variant Benign rs1799857 GRCh38 Chromosome 11, 17430945: 17430945
45 ABCC8 NM_000352.4(ABCC8): c.1947G> A (p.Lys649=) single nucleotide variant Benign rs1799858 GRCh37 Chromosome 11, 17449929: 17449929
46 ABCC8 NM_000352.4(ABCC8): c.1947G> A (p.Lys649=) single nucleotide variant Benign rs1799858 GRCh38 Chromosome 11, 17428382: 17428382
47 ABCC8 NM_000352.4(ABCC8): c.2485C> T (p.Leu829=) single nucleotide variant Benign rs1805036 GRCh37 Chromosome 11, 17434284: 17434284
48 ABCC8 NM_000352.4(ABCC8): c.2485C> T (p.Leu829=) single nucleotide variant Benign rs1805036 GRCh38 Chromosome 11, 17412737: 17412737
49 ABCC8 NM_000352.4(ABCC8): c.3509del deletion Pathogenic rs587783169 GRCh37 Chromosome 11, 17426107: 17426107
50 ABCC8 NM_000352.4(ABCC8): c.3509del deletion Pathogenic rs587783169 GRCh38 Chromosome 11, 17404560: 17404560

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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