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HHF1
MCID: HYP304
MIFTS: 51

Hyperinsulinemic Hypoglycemia, Familial, 1 (HHF1)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 1

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MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 1:

Name: Hyperinsulinemic Hypoglycemia, Familial, 1 57 13 72
Persistent Hyperinsulinemic Hypoglycemia of Infancy 57 74 29 6
Familial Hyperinsulinemic Hypoglycemia 1 12 74 15
Hhf1 57 12 74
Congenital Hyperinsulinism 74 72
Phhi 57 74
Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency, Diazoxide-Resistant Focal Form 59
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency 59
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency 59
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 57
Diazoxide-Resistant Focal Hyperinsulinism Due to Sur1 Deficiency 59
Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis 57
Autosomal Recessive Hyperinsulinism Due to Sur1 Deficiency 59
Persistent Hyperinsulinemic Hypoglycemia of Infancy; Phhi 57
Autosomal Dominant Hyperinsulinism Due to Sur1 Deficiency 59
Hypoglycemia, Hyperinsulinemic, Familial, Type 1 40
Hypoglycemia, Hyperinsulinemic, of Infancy 57
Nesidioblastosis of Pancreas 57
Hyperinsulinism, Congenital 57

Characteristics:

Orphanet epidemiological data:

59
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;
autosomal recessive hyperinsulinism due to sur1 deficiency
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
hyperinsulinemic hypoglycemia, familial, 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance heterogeneous


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Endocrine diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0070219
ICD10 via Orphanet 34 E16.1
UMLS 72 C2931832 C3888018
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Summaries for Hyperinsulinemic Hypoglycemia, Familial, 1

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OMIM : 57 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)

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 1, also known as persistent hyperinsulinemic hypoglycemia of infancy, is related to beckwith-wiedemann syndrome and hyperinsulinemic hypoglycemia, familial, 2. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 1 is ABCC8 (ATP Binding Cassette Subfamily C Member 8). The drugs lanreotide and Angiopeptin 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.

UniProtKB/Swiss-Prot : 74 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 : 75 Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which... more...

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Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 1

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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 top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 beckwith-wiedemann syndrome 29.7 H19 ABCC8
2 hyperinsulinemic hypoglycemia, familial, 2 12.3
3 hyperinsulinemic hypoglycemia, familial, 3 11.8
4 hyperinsulinemic hypoglycemia, familial, 5 11.8
5 hyperinsulinemic hypoglycemia, familial, 4 11.8
6 hyperinsulinemic hypoglycemia, familial, 6 11.5
7 hyperinsulinism 10.8
8 hyperinsulinemic hypoglycemia 10.7
9 hypoglycemia 10.7
10 autosomal recessive disease 10.5
11 hyperglycemia 10.4
12 carbonic anhydrase va deficiency, hyperammonemia due to 10.4
13 insulinoma 10.3
14 maturity-onset diabetes of the young 10.2
15 overgrowth syndrome 10.2
16 diabetes mellitus, noninsulin-dependent 10.2
17 neuroblastoma 1 10.2
18 ocular motor apraxia 10.2
19 gallbladder disease 1 10.2
20 diabetes mellitus, insulin-dependent, 11 10.2
21 abdominal obesity-metabolic syndrome 1 10.2
22 cyanosis, transient neonatal 10.2
23 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
24 steatorrhea 10.2
25 glucose intolerance 10.2
26 hypertrichosis 10.2
27 adenoma 10.2
28 kabuki syndrome 1 10.2
29 acute insulin response 10.2
30 monogenic diabetes 10.2
31 paternal uniparental disomy 10.2
32 atrial standstill 1 10.1
33 alacrima, achalasia, and mental retardation syndrome 10.1
34 neonatal diabetes mellitus 10.1
35 cerebral palsy 10.1
36 hypertrophic cardiomyopathy 10.1
37 enterocolitis 10.0
38 insulin-like growth factor i 10.0
39 fanconi syndrome 10.0
40 exocrine pancreatic insufficiency 10.0
41 gonadal dysgenesis 10.0
42 glycogen storage disease 10.0
43 turner syndrome 10.0
44 hepatoblastoma 10.0
45 diabetes mellitus 10.0
46 hypopituitarism 10.0
47 fasting hypoglycemia 10.0
48 glucagonoma 10.0
49 seizure disorder 10.0
50 angelman syndrome 9.9

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



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 1
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Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 1

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Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 1:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
3 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
4 hyperinsulinemic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000825
5 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
6 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
7 tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001649
8 pancreatic islet-cell hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004510
9 progressive neurologic deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002344
10 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
11 abnormal circulating fatty-acid concentration 32 hallmark (90%) HP:0004359
12 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
13 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
14 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
15 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
16 low levels of vitamin b1 32 frequent (33%) HP:0100503
17 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
18 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
19 agitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000713
20 large for gestational age 59 32 occasional (7.5%) Occasional (29-5%) HP:0001520
21 secondary growth hormone deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008240
22 decreased circulating cortisol level 59 32 occasional (7.5%) Occasional (29-5%) HP:0008163
23 drowsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002329
24 abnormal brain fdg positron emission tomography 59 32 occasional (7.5%) Occasional (29-5%) HP:0012658
25 intellectual disability 32 HP:0001249
26 cognitive impairment 59 Frequent (79-30%)
27 hyperinsulinemia 59 Very frequent (99-80%)
28 hypoglycemic seizures 32 HP:0002173
29 abnormality of fatty-acid metabolism 59 Very frequent (99-80%)
30 vitamin b1 deficiency 59 Frequent (79-30%)
31 hypoglycemic coma 32 HP:0001325

Symptoms via clinical synopsis from OMIM:

57
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
Sources

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 1

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2 Angiopeptin Phase 4
3
Glucagon Approved Phase 3 16941-32-5
4
Diazoxide Approved Phase 2 364-98-7 3019
5
Exenatide Approved, Investigational Phase 1, Phase 2 141758-74-9 15991534
6
tannic acid Approved Phase 1, Phase 2 1401-55-4
7
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
8 Antineoplastic Agents, Hormonal Phase 2
9 Anti-Obesity Agents Phase 1, Phase 2
10 Hypoglycemic Agents Phase 1, Phase 2
11 lysine Phase 1, Phase 2
12 Radiopharmaceuticals Phase 1, Phase 2
13 Plasma Substitutes Phase 1, Phase 2
14 Polygeline Phase 1, Phase 2
15 Blood Substitutes Phase 1, Phase 2
16 Incretins Phase 2
17 Gastrointestinal Agents Phase 2
18 Glucagon-Like Peptide 1 Phase 1, Phase 2
19 Anesthetics, Local Phase 1, Phase 2
20 Central Nervous System Depressants Phase 1, Phase 2
21 Anesthetics Phase 1, Phase 2
22 Peripheral Nervous System Agents Phase 1, Phase 2
23
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
24
Octreotide Approved, Investigational Phase 1 83150-76-9 383414 6400441
25
Lactitol Investigational Phase 1 585-86-4, 585-88-6 493591
26 Glycoside Hydrolase Inhibitors Phase 1
27 Cardiac Glycosides Phase 1
28 insulin Phase 1
29 Insulin, Globin Zinc Phase 1
30
Insulin Aspart Approved 116094-23-6 16132418
31
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
32
Pancrelipase Approved, Investigational 53608-75-6
33
Dopamine Approved 51-61-6, 62-31-7 681
34
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
35 Tocotrienol Investigational 6829-55-6
36 Micronutrients
37 Trace Elements
38 Antioxidants
39 Tocotrienols
40 Vitamins
41 Protective Agents
42 Tocopherols
43 Nutrients
44 pancreatin
45 Dopamine Agents
46 Dihydroxyphenylalanine
47 Neurotransmitter Agents
48 Fluorides

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 Treatment With Lanreotide Autogel (Somatostatin Analogue) in Patients With Congenital Hyperinsulinism of Infancy Already Treated With Somatostatin Analog by Pump Unknown status NCT01070758 Phase 4 Lanreotide autogel
2 A Two-Period, Open-label Trial Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Recruiting NCT03777176 Phase 3 dasiglucagon
3 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
4 An Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Enrolling by invitation NCT03941236 Phase 3 dasiglucagon
5 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Not yet recruiting NCT03984370 Phase 3 ZP4207
6 A Phase II Safety and Efficacy Study of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
7 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
8 An Open Label Pilot Study of the Effects of the Glucagon-like Peptide-1 Receptor Antagonist, Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
9 A Phase 2 Proof-of-Concept Study of CSI-Glucagonâ„¢ (Continuous Subcutaneous Glucagon Infusion) to Prevent Hypoglycemia With Lower Intravenous Glucose Infusion Rates in Children up to One Year of Age With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
10 Replace Sandostatine® in Three Daily Subcutaneous Injections by a Single Intramuscular Injection of Sandostatine® LP Per Month in Patients With a Diffuse Form of Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
11 A Single-Dose Open-Label Study of XOMA 358 in Subjects With Congenital Hyperinsulinism (HI) Completed NCT02604485 Phase 2 Cohort 1;Cohort 2;Cohort 3;Cohort 4
12 Role of GLP-1 in Congenital Hyperinsulinism:Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
13 Effect of Gelofusine on 111In-DTPA-AHX-Lys40-Exendin 4 Uptake in the Kidney Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
14 A Phase 2, Interventional, Randomized, Double-Blind, Placebo-Controlled Pilot Study of Glucagon RTU in Subjects Who Experience Hyperinsulinemic Hypoglycemia After Bariatric Surgery Recruiting NCT03770637 Phase 2 Glucagon RTU
15 Role of GLP-1 In Congenital Hyperinsulinism: Effect Of Exendin-(9-39)On Glucose Requirements To Maintain Euglycemia Suspended NCT00835328 Phase 1, Phase 2 exendin-(9-39)
16 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
17 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
18 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
19 The Use of Fluorodopa F 18 Positron Emission Tomography Combined With Computed Tomography in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
20 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
21 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
22 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
23 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541
24 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
25 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Recruiting NCT03768518
26 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222
27 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Recruiting NCT03930368
28 Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Children With Congenital Hyperinsulinism - A Pilot Study Active, not recruiting NCT03303196
29 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
30 Expanded Access Use of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
31 Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 1

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Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 1

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Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 1:

# Genetic test Affiliating Genes
1 Persistent Hyperinsulinemic Hypoglycemia of Infancy 29 ABCC8
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Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 1

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

41
Brain, Pancreas, Pancreatic Islet, Kidney, B Cells, Liver
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Publications for Hyperinsulinemic Hypoglycemia, Familial, 1

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Articles related to Hyperinsulinemic Hypoglycemia, Familial, 1:

(show top 50) (show all 199)
# Title Authors PMID Year
1
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. 38 8 71
10334322 1999
2
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. 38 8 71
9769320 1998
3
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. 38 8 71
8751851 1996
4
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. 38 8 71
7716548 1995
5
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. 8 71
23273570 2013
6
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. 8 71
21978130 2012
7
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 8 71
18596924 2008
8
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 8 71
15579781 2004
9
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. 8 71
12941782 2003
10
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. 8 71
12559865 2003
11
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 8 71
11018078 2000
12
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. 8 71
9469993 1998
13
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. 8 71
8923011 1996
14
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. 38 71
10993895 2000
15
Engineering a glucose-responsive human insulin-secreting cell line from islets of Langerhans isolated from a patient with persistent hyperinsulinemic hypoglycemia of infancy. 38 8
10567373 1999
16
Congenital hyperinsulinism: molecular basis of a heterogeneous disease. 38 8
10338089 1999
17
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. 38 8
9259578 1997
18
An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. 38 8
9100595 1997
19
Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. 38 8
7847376 1995
20
Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): autosomal recessive inheritance in 7 pedigrees. 38 8
2260597 1990
21
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. 8
21716120 2011
22
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. 71
20573158 2011
23
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. 71
21378087 2011
24
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 8
20685672 2010
25
Large islets, beta-cell proliferation, and a glucokinase mutation. 8
20375417 2010
26
The genetic basis of congenital hyperinsulinism. 8
19254908 2009
27
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism. 8
16882742 2006
28
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 8
15562009 2005
29
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 8
15277402 2004
30
Familial Hyperinsulinism 71
20301549 2003
31
Facial appearance in persistent hyperinsulinemic hypoglycemia. 8
12210338 2002
32
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. 8
11808879 2002
33
Clinical and genetic heterogeneity in congenital hyperinsulinism. 8
11808881 2002
34
Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia. 8
11445544 2001
35
Suppression of insulin oversecretion by subcutaneous recombinant human insulin-like growth factor I in children with congenital hyperinsulinism due to defective beta-cell sulfonylurea receptor. 8
10487673 1999
36
Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene. 8
10426386 1999
37
Noninsulinoma pancreatogenous hypoglycemia: a novel syndrome of hyperinsulinemic hypoglycemia in adults independent of mutations in Kir6.2 and SUR1 genes. 8
10323384 1999
38
Clinical features of 52 neonates with hyperinsulinism. 8
10202168 1999
39
Neonatal Hyperinsulinism. 8
10322395 1999
40
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. 71
10447255 1999
41
Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria. 8
9727845 1998
42
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews. 8
7633448 1995
43
A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. 8
7789978 1995
44
Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. 8
8545179 1995
45
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. 8
7920639 1994
46
Prenatal diagnosis of familial neonatal hyperinsulinemia. 8
8374219 1993
47
A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism. 8
1421899 1992
48
Familial hyperinsulinism presenting in adults. 8
1358043 1992
49
Familial hyperinsulinism: successful conservative management. 8
1941376 1991
50
Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. 8
1941377 1991
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Variations for Hyperinsulinemic Hypoglycemia, Familial, 1

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

6 (show top 50) (show all 209)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCC8 NM_000352.5(ABCC8): c.3748C> T (p.Arg1250Ter) single nucleotide variant Pathogenic rs1057516281 11:17419891-17419891 11:17398344-17398344
2 ABCC8 NM_000352.5(ABCC8): c.1630+1G> T single nucleotide variant Pathogenic rs773306994 11:17464266-17464266 11:17442719-17442719
3 ABCC8 NM_000352.5(ABCC8): c.584dup (p.Tyr195Ter) duplication Pathogenic rs1057517199 11:17483368-17483368 11:17461821-17461821
4 ABCC8 NM_000352.5(ABCC8): c.4450G> A (p.Gly1484Arg) single nucleotide variant Pathogenic rs1554904102 11:17415908-17415908 11:17394361-17394361
5 ABCC8 NM_000352.5(ABCC8): c.2295_2307delinsAA (p.Arg766fs) indel Pathogenic rs1554917411 11:17436142-17436154 11:17414595-17414607
6 ABCC8 NM_000352.5(ABCC8): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs139328569 11:17452386-17452386 11:17430839-17430839
7 ABCC8 NM_000352.5(ABCC8): c.1752del (p.His584fs) deletion Pathogenic rs1554926539 11:17452426-17452426 11:17430879-17430879
8 ABCC8 NM_000352.5(ABCC8): c.1254_1284dup (p.Met429Ter) duplication Pathogenic rs768951263 11:17470111-17470141 11:17448564-17448594
9 ABCC8 NM_000352.5(ABCC8): c.221G> A (p.Arg74Gln) single nucleotide variant Pathogenic rs72559734 11:17496502-17496502 11:17474955-17474955
10 ABCC8 NM_000352.5(ABCC8): c.1634del (p.Phe545fs) deletion Pathogenic rs1260178539 11:17453788-17453788 11:17432241-17432241
11 ABCC8 NM_000352.5(ABCC8): c.3868-1G> A single nucleotide variant Pathogenic rs766431403 11:17418861-17418861 11:17397314-17397314
12 ABCC8 NM_000352.5(ABCC8): c.4307G> A (p.Arg1436Gln) single nucleotide variant Pathogenic rs387906407 11:17417157-17417157 11:17395610-17395610
13 ABCC8 NM_000352.5(ABCC8): c.3989-9G> A single nucleotide variant Pathogenic rs151344623 11:17418602-17418602 11:17397055-17397055
14 ABCC8 NM_000352.5(ABCC8): c.2292-1G> A single nucleotide variant Pathogenic 11:17436158-17436158 11:17414611-17414611
15 ABCC8 NM_000352.5(ABCC8): c.4516G> A (p.Glu1506Lys) single nucleotide variant Pathogenic rs137852671 11:17415842-17415842 11:17394295-17394295
16 ABCC8 NM_000352.5(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 11:17485004-17485004 11:17463457-17463457
17 ABCC8 NM_000352.5(ABCC8): c.4154_4156CCT[1] (p.Ser1386del) short repeat Pathogenic rs387906408 11:17417438-17417440 11:17395891-17395893
18 ABCC8 NM_000352.4(ABCC8): c.-190C> G single nucleotide variant Pathogenic 11:17498513-17498513 11:17476966-17476966
19 ABCC8 NM_000352.5(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 11:17448671-17448671 11:17427124-17427124
20 ABCC8 NM_000352.5(ABCC8): c.4055G> C (p.Arg1352Pro) single nucleotide variant Pathogenic rs28936370 11:17418527-17418527 11:17396980-17396980
21 ABCC8 NM_000352.4: c.(?_1818)_(1923_?)del deletion Pathogenic
22 ABCC8 NM_000352.5(ABCC8): c.512dup (p.Thr172fs) duplication Pathogenic 11:17485052-17485052 11:17463505-17463505
23 ABCC8 ABCC8, IVS8, A-G, -1013 single nucleotide variant Pathogenic
24 ABCC8 NM_000352.5(ABCC8): c.3509del (p.Leu1170fs) deletion Pathogenic rs587783169 11:17426107-17426107 11:17404560-17404560
25 ABCC8 NM_000352.5(ABCC8): c.4160_4162del (p.Phe1387del) deletion Pathogenic rs151344624 11:17417435-17417437 11:17395888-17395890
26 ABCC8 NM_000352.5(ABCC8): c.2117-1G> A single nucleotide variant Pathogenic rs797045207 11:17448702-17448702 11:17427155-17427155
27 ABCC8 NM_000352.5(ABCC8): c.4628T> C (p.Leu1543Pro) single nucleotide variant Pathogenic/Likely pathogenic rs72559713 11:17414656-17414656 11:17393109-17393109
28 ABCC8 NM_000352.5(ABCC8): c.4411G> A (p.Asp1471Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72559716 11:17416719-17416719 11:17395172-17395172
29 ABCC8 NM_000352.5(ABCC8): c.2857C> T (p.Gln953Ter) single nucleotide variant Pathogenic/Likely pathogenic rs541269678 11:17428964-17428964 11:17407417-17407417
30 ABCC8 NM_000352.5(ABCC8): c.2506C> T (p.Arg836Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 11:17434263-17434263 11:17412716-17412716
31 ABCC8 NM_000352.5(ABCC8): c.4258C> T (p.Arg1420Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28938469 11:17417206-17417206 11:17395659-17395659
32 ABCC8 NM_000352.5(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 11:17415881-17415881 11:17394334-17394334
33 ABCC8 NM_000352.5(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 11:17417158-17417158 11:17395611-17395611
34 ABCC8 NM_000352.5(ABCC8): c.563A> G (p.Asn188Ser) single nucleotide variant Pathogenic/Likely pathogenic rs797045213 11:17485001-17485001 11:17463454-17463454
35 ABCC8 NM_000352.5(ABCC8): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic/Likely pathogenic rs761749884 11:17491729-17491729 11:17470182-17470182
36 ABCC8 NM_000352.5(ABCC8): c.4119+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs797045211 11:17418462-17418462 11:17396915-17396915
37 ABCC8 NM_000352.5(ABCC8): c.3640C> T (p.Arg1214Trp) single nucleotide variant Pathogenic/Likely pathogenic rs139964066 11:17424218-17424218 11:17402671-17402671
38 ABCC8 NM_000352.5(ABCC8): c.3130_3149del (p.Thr1044fs) deletion Pathogenic/Likely pathogenic rs886041392 11:17428448-17428467 11:17406901-17406920
39 ABCC8 NM_000352.5(ABCC8): c.2222+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs1554923999 11:17448595-17448595 11:17427048-17427048
40 ABCC8 NM_000352.5(ABCC8): c.62T> A (p.Val21Asp) single nucleotide variant Pathogenic/Likely pathogenic rs200670692 11:17498262-17498262 11:17476715-17476715
41 ABCC8 NM_000352.5(ABCC8): c.4432G> A (p.Gly1478Arg) single nucleotide variant Pathogenic/Likely pathogenic rs72559715 11:17415926-17415926 11:17394379-17394379
42 ABCC8 NM_000352.5(ABCC8): c.1879del (p.His627fs) deletion Pathogenic/Likely pathogenic rs764613146 11:17450156-17450156 11:17428609-17428609
43 ABCC8 NM_000352.5(ABCC8): c.2695-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs1057517420 11:17430065-17430065 11:17408518-17408518
44 ABCC8 NM_000352.5(ABCC8): c.3574del (p.Asp1192fs) deletion Pathogenic/Likely pathogenic rs1057516317 11:17424284-17424284 11:17402737-17402737
45 ABCC8 NM_000352.5(ABCC8): c.3525C> G (p.Tyr1175Ter) single nucleotide variant Likely pathogenic rs1057516439 11:17426091-17426091 11:17404544-17404544
46 ABCC8 NM_000352.5(ABCC8): c.3400-1G> A single nucleotide variant Likely pathogenic rs576684889 11:17426217-17426217 11:17404670-17404670
47 ABCC8 NM_000352.5(ABCC8): c.3108G> A (p.Trp1036Ter) single nucleotide variant Likely pathogenic rs1057516585 11:17428489-17428489 11:17406942-17406942
48 ABCC8 NM_000352.5(ABCC8): c.4478G> A (p.Arg1493Gln) single nucleotide variant Likely pathogenic rs746480424 11:17415880-17415880 11:17394333-17394333
49 ABCC8 NM_000352.5(ABCC8): c.4474del (p.Ala1492fs) deletion Likely pathogenic rs1057516655 11:17415884-17415884 11:17394337-17394337
50 ABCC8 NM_000352.5(ABCC8): c.4353G> A (p.Trp1451Ter) single nucleotide variant Likely pathogenic rs1057516404 11:17416777-17416777 11:17395230-17395230

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

74 (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 rs155493316
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

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Expression for Hyperinsulinemic Hypoglycemia, Familial, 1

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Pathways for Hyperinsulinemic Hypoglycemia, Familial, 1

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GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 1

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Sources for Hyperinsulinemic Hypoglycemia, Familial, 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
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46 MGI
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50 NCIt
51 NDF-RT
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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