HHF1
MCID: HYP304
MIFTS: 61

Hyperinsulinemic Hypoglycemia, Familial, 1 (HHF1)

Categories: Blood diseases, Endocrine diseases, Fetal 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 56 29 13 6 71
Familial Hyperinsulinemic Hypoglycemia 1 12 73 15
Hhf1 56 12 73
Persistent Hyperinsulinemic Hypoglycemia of Infancy 56 73
Congenital Hyperinsulinism 73 71
Phhi 56 73
Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency, Diazoxide-Resistant Focal Form 58
Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency 58
Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Sur1 Deficiency 58
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 56
Diazoxide-Resistant Focal Hyperinsulinism Due to Sur1 Deficiency 58
Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis 56
Autosomal Recessive Hyperinsulinism Due to Sur1 Deficiency 58
Persistent Hyperinsulinemic Hypoglycemia of Infancy; Phhi 56
Autosomal Dominant Hyperinsulinism Due to Sur1 Deficiency 58
Hypoglycemia, Hyperinsulinemic, Familial, Type 1 39
Hypoglycemia, Hyperinsulinemic, of Infancy 56
Nesidioblastosis of Pancreas 56
Hyperinsulinism, Congenital 56

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
hyperinsulinemic hypoglycemia, familial, 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Hyperinsulinemic Hypoglycemia, Familial, 1

OMIM : 56 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 familial hyperinsulinemic hypoglycemia 1, is related to hyperinsulinemic hypoglycemia, familial, 3 and hyperinsulinemic hypoglycemia. 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 Signaling by GPCR and Gene Expression. The drugs lanreotide and Angiopeptin have been mentioned in the context of this disorder. Affiliated tissues include brain, pancreas and kidney, 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 : 73 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 : 74 Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which... 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 top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 3 32.7 H4C14 H4C13 H4C12 H2AC18
2 hyperinsulinemic hypoglycemia 31.6 KCNJ11 H2AC18 ABCC8
3 acute insulin response 30.9 KCNJ11 ABCC8
4 beckwith-wiedemann syndrome 30.5 KCNJ11 H2AC18 H19 ABCC8
5 neonatal diabetes mellitus 30.4 LOC110121471 KCNJ11 H2AC18 ABCC8
6 asphyxia neonatorum 30.3 KCNJ11 ABCC8
7 diabetes mellitus, permanent neonatal 4 30.2 KCNJ11 ABCC8
8 maturity-onset diabetes of the young, type 2 30.0 KCNJ11 ABCC8
9 hyperinsulinemic hypoglycemia, familial, 2 28.3 SLC25A46 KCNJ11 H4C9 H4C8 H4C6 H4C5
10 primary hyperoxaluria 25.3 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
11 hyperoxaluria, primary, type i 25.2 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
12 retinitis pigmentosa 25.2 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
13 hyperinsulinemic hypoglycemia, familial, 5 11.8
14 hyperinsulinemic hypoglycemia, familial, 4 11.8
15 hyperinsulinemic hypoglycemia, familial, 6 11.5
16 hyperinsulinism 10.7
17 hypoglycemia 10.7
18 autosomal recessive disease 10.5
19 munchausen by proxy 10.5 KCNJ11 ABCC8
20 maturity-onset diabetes of the young, type 11 10.4 KCNJ11 ABCC8
21 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.4 KCNJ11 ABCC8
22 maturity-onset diabetes of the young, type 13 10.4 KCNJ11 ABCC8
23 maturity-onset diabetes of the young, type 10 10.4 KCNJ11 ABCC8
24 hyperglycemia 10.4
25 hyperinsulinemic hypoglycemia, familial, 7 10.4 KCNJ11 ABCC8
26 maturity-onset diabetes of the young, type 7 10.4 KCNJ11 ABCC8
27 carbonic anhydrase va deficiency, hyperammonemia due to 10.4
28 maturity-onset diabetes of the young, type 9 10.4 KCNJ11 ABCC8
29 maturity-onset diabetes of the young, type 6 10.4 KCNJ11 ABCC8
30 cardiomyopathy, dilated, 1o 10.3 KCNJ11 ABCC8
31 insulinoma 10.3
32 maturity-onset diabetes of the young, type 4 10.3 KCNJ11 ABCC8
33 maturity-onset diabetes of the young 10.3
34 diabetes mellitus, noninsulin-dependent 10.2
35 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.2 KCNJ11 ABCC8
36 paternal uniparental disomy 10.2
37 overgrowth syndrome 10.2
38 transient neonatal diabetes mellitus 10.2 LOC110121471 KCNJ11 H2AC18 ABCC8
39 ocular motor apraxia 10.2
40 gallbladder disease 1 10.2
41 diabetes mellitus, insulin-dependent, 11 10.2
42 abdominal obesity-metabolic syndrome 1 10.2
43 cyanosis, transient neonatal 10.2
44 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
45 glucose intolerance 10.2
46 hypertrichosis 10.2
47 adenoma 10.2
48 neuroblastoma 10.2
49 kabuki syndrome 1 10.2
50 monogenic diabetes 10.2

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:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
3 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
4 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
5 tachycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001649
6 progressive neurologic deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002344
7 pancreatic islet-cell hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004510
8 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000825
9 coma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001259
10 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
11 abnormal circulating fatty-acid concentration 31 hallmark (90%) HP:0004359
12 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
13 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
14 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
15 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
16 low levels of vitamin b1 31 frequent (33%) HP:0100503
17 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
18 large for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001520
19 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
20 agitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000713
21 secondary growth hormone deficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008240
22 decreased circulating cortisol level 58 31 occasional (7.5%) Occasional (29-5%) HP:0008163
23 abnormal brain fdg positron emission tomography 58 31 occasional (7.5%) Occasional (29-5%) HP:0012658
24 seizure 31 occasional (7.5%) HP:0001250
25 intellectual disability 31 HP:0001249
26 seizures 58 Occasional (29-5%)
27 cognitive impairment 58 Frequent (79-30%)
28 hyperinsulinemia 58 Very frequent (99-80%)
29 abnormality of fatty-acid metabolism 58 Very frequent (99-80%)
30 vitamin b1 deficiency 58 Frequent (79-30%)
31 hypoglycemic coma 31 HP:0001325
32 hypoglycemic seizures 31 HP:0002173

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia

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

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

Growth Other:
large for gestational age

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

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

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.91 H4C13 H2AC18
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.91 H4C13
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.91 H4C11 H4C12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-13 9.91 H4C11 H4C12 H4C5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.91 H4C13 H2AC18
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.91 H4C5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.91 H2AC18
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.91 H4C13 H2AC18
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.91 H4C14 H4C15
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.91 H4C13
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.91 H2AC18
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.91 H4C11 H4C12
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.91 H4C11 H4C12
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.91 H4C11 H4C12
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.91 H2AC18
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 9.91 H4C11 H4C12
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.91 H4C14 H4C15
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.91 H2AC18
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.91 H4C14 H4C15
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.91 H4C11 H4C12

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 1

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

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2 Angiopeptin Phase 4
3
Diazoxide Approved Phase 2 364-98-7 3019
4
Pancrelipase Approved, Investigational Phase 2 53608-75-6
5
Exenatide Approved, Investigational Phase 1, Phase 2 141758-74-9 15991534
6
Glucagon Approved Phase 1, Phase 2 16941-32-5
7
tannic acid Approved Phase 1, Phase 2 1401-55-4
8
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
9 pancreatin Phase 2
10 Gastrointestinal Agents Phase 2
11 Antineoplastic Agents, Hormonal Phase 2
12 Anti-Obesity Agents Phase 1, Phase 2
13 Polygeline Phase 1, Phase 2
14 lysine Phase 1, Phase 2
15 Radiopharmaceuticals Phase 1, Phase 2
16 Plasma Substitutes Phase 1, Phase 2
17 Blood Substitutes Phase 1, Phase 2
18 Glucagon-Like Peptide 1 Phase 1, Phase 2
19
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
20
Octreotide Approved, Investigational Phase 1 83150-76-9 383414 6400441
21
Somatostatin Approved, Investigational Phase 1 38916-34-6, 51110-01-1 53481605
22
Levodopa Approved Phase 1 59-92-7 6047
23
Lactitol Approved, Investigational Phase 1 585-88-6, 585-86-4 493591
24 Cardiac Glycosides Phase 1
25 Glycoside Hydrolase Inhibitors Phase 1
26 Incretins Phase 1
27 Insulin, Globin Zinc Phase 1
28 insulin Phase 1
29
Insulin aspart Approved 116094-23-6 16132418
30
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
31
Dopamine Approved 51-61-6, 62-31-7 681
32
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
33 Tocotrienol Investigational 6829-55-6
34 Micronutrients
35 Trace Elements
36 Vitamins
37 Antioxidants
38 Nutrients
39 Protective Agents
40 Tocotrienols
41 Tocopherols
42 Dihydroxyphenylalanine
43 Neurotransmitter Agents
44 Dopamine Agents
45 Fluorides
46 Hypoglycemic Agents

Interventional clinical trials:

(show all 35)
# 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 A Randomized Trial in 2 Parts: Double-Blind, Placebo-Controlled, Crossover Part 1 and Open-label Part 2, Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Recruiting NCT04172441 Phase 2, Phase 3 dasiglucagon;Placebo
4 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
5 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
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-Glucagon™ (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 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
14 A Phase 2, Interventional, Randomized, Double-Blind, Placebo-Controlled Pilot Study of Glucagon RTU in Subjects Who Experience Hyperinsulinemic Hypoglycemia After Bariatric Surgery Completed NCT03770637 Phase 2 Glucagon RTU
15 Effect of Gelofusine on 111In-DTPA-AHX-Lys40-Exendin 4 Uptake in the Kidney Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
16 Role of Glucagon-Like Peptide-1 (GLP-1) in Congenital Hyperinsulinism: Effect of Exendin (9-39) on Glucose Requirements to Maintain Euglycemia Terminated NCT00835328 Phase 1, Phase 2 Exendin (9-39);Vehicle
17 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
18 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
19 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
20 18F-Fluoro-L- DOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism Recruiting NCT04205604 Phase 1
21 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
22 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
23 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
24 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
25 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541
26 Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Children With Congenital Hyperinsulinism - A Pilot Study Completed NCT03303196
27 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
28 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Recruiting NCT03768518
29 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Recruiting NCT03930368
30 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Active, not recruiting NCT03797222
31 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
32 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
33 Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
34 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery, Part 1 C: Effect of Postprandial Hypoglycaemia on Driving Performance. Not yet recruiting NCT04330196
35 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery Part 1 B: Evaluation of the Neuro-endocrine Response to Hypoglycaemia. Not yet recruiting NCT04334161

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 Hyperinsulinemic Hypoglycemia, Familial, 1 29 ABCC8

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 1

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

40
Brain, Pancreas, Kidney, Pancreatic Islet, B Cells

Publications for Hyperinsulinemic Hypoglycemia, Familial, 1

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 1:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. 6 56
23273570 2013
2
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. 56 6
21978130 2012
3
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 56 6
18596924 2008
4
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 6 56
15579781 2004
5
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. 6 56
12941782 2003
6
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. 56 6
12559865 2003
7
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 6 56
11018078 2000
8
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. 56 6
10334322 1999
9
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. 56 6
9769320 1998
10
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. 6 56
9469993 1998
11
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. 6 56
8923011 1996
12
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. 56 6
8751851 1996
13
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. 56 6
7716548 1995
14
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. 56
21716120 2011
15
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. 6
20573158 2011
16
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. 6
21378087 2011
17
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 56
20685672 2010
18
Large islets, beta-cell proliferation, and a glucokinase mutation. 56
20375417 2010
19
The genetic basis of congenital hyperinsulinism. 56
19254908 2009
20
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism. 56
16882742 2006
21
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 56
15562009 2005
22
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 56
15277402 2004
23
Familial Hyperinsulinism 6
20301549 2003
24
Facial appearance in persistent hyperinsulinemic hypoglycemia. 56
12210338 2002
25
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. 56
11808879 2002
26
Clinical and genetic heterogeneity in congenital hyperinsulinism. 56
11808881 2002
27
Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia. 56
11445544 2001
28
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. 6
10993895 2000
29
Engineering a glucose-responsive human insulin-secreting cell line from islets of Langerhans isolated from a patient with persistent hyperinsulinemic hypoglycemia of infancy. 56
10567373 1999
30
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. 56
10487673 1999
31
Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene. 56
10426386 1999
32
Noninsulinoma pancreatogenous hypoglycemia: a novel syndrome of hyperinsulinemic hypoglycemia in adults independent of mutations in Kir6.2 and SUR1 genes. 56
10323384 1999
33
Clinical features of 52 neonates with hyperinsulinism. 56
10202168 1999
34
Neonatal Hyperinsulinism. 56
10322395 1999
35
Congenital hyperinsulinism: molecular basis of a heterogeneous disease. 56
10338089 1999
36
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. 6
10447255 1999
37
Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria. 56
9727845 1998
38
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. 56
9259578 1997
39
An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. 56
9100595 1997
40
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. 56
7633448 1995
41
Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. 56
7847376 1995
42
A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. 56
7789978 1995
43
Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. 56
8545179 1995
44
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. 56
7920639 1994
45
Prenatal diagnosis of familial neonatal hyperinsulinemia. 56
8374219 1993
46
A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism. 56
1421899 1992
47
Familial hyperinsulinism presenting in adults. 56
1358043 1992
48
Familial hyperinsulinism: successful conservative management. 56
1941376 1991
49
Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. 56
1941377 1991
50
Nesidioblastosis: evidence for autosomal recessive inheritance. 56
2031615 1991

Variations for Hyperinsulinemic Hypoglycemia, Familial, 1

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

6 (show top 50) (show all 318) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC8 NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg)SNV Pathogenic 434044 rs1554904102 11:17415908-17415908 11:17394361-17394361
2 ABCC8 NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)SNV Pathogenic 434056 rs139328569 11:17452386-17452386 11:17430839-17430839
3 ABCC8 NM_000352.6(ABCC8):c.1752del (p.His584fs)deletion Pathogenic 434060 rs1554926539 11:17452426-17452426 11:17430879-17430879
4 ABCC8 NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)duplication Pathogenic 434055 rs768951263 11:17470110-17470111 11:17448563-17448564
5 ABCC8 NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs)indel Pathogenic 434054 rs1554917411 11:17436142-17436154 11:17414595-17414607
6 ABCC8 NM_000352.6(ABCC8):c.1634del (p.Phe545fs)deletion Pathogenic 446765 rs1260178539 11:17453788-17453788 11:17432241-17432241
7 ABCC8 NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)SNV Pathogenic 495835 rs200670692 11:17498262-17498262 11:17476715-17476715
8 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)SNV Pathogenic 495834 rs72559734 11:17496502-17496502 11:17474955-17474955
9 ABCC8 NM_001287174.2(ABCC8):c.3871-1G>ASNV Pathogenic 552652 rs766431403 11:17418861-17418861 11:17397314-17397314
10 ABCC8 NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)SNV Pathogenic 633027 rs1564977373 11:17483257-17483257 11:17461710-17461710
11 ABCC8 NM_000352.6(ABCC8):c.598del (p.Thr200fs)deletion Pathogenic 802661 11:17483354-17483354 11:17461807-17461807
12 ABCC8 NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)SNV Pathogenic 9097 rs137852671 11:17415842-17415842 11:17394295-17394295
13 ABCC8 NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)SNV Pathogenic 9099 rs137852672 11:17485004-17485004 11:17463457-17463457
14 ABCC8 NM_000352.6(ABCC8):c.4154_4156CCT[1] (p.Ser1386del)short repeat Pathogenic 9100 rs387906408 11:17417438-17417440 11:17395891-17395893
15 ABCC8 NM_000352.4(ABCC8):c.-190C>GSNV Pathogenic 9101 rs1395224084 11:17498513-17498513 11:17476966-17476966
16 ABCC8 NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val)SNV Pathogenic 18449 rs72559723 11:17448671-17448671 11:17427124-17427124
17 ABCC8 NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)SNV Pathogenic 9086 rs387906407 11:17417157-17417157 11:17395610-17395610
18 ABCC8 NM_001287174.2(ABCC8):c.2295-1G>ASNV Pathogenic 9090 rs1564905676 11:17436158-17436158 11:17414611-17414611
19 ABCC8 NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)SNV Pathogenic 9094 rs28936370 11:17418527-17418527 11:17396980-17396980
20 ABCC8 NM_000352.4:c.(?_1818)_(1923_?)deldeletion Pathogenic 39470
21 ABCC8 NM_000352.6(ABCC8):c.512dup (p.Thr172fs)duplication Pathogenic 39471 rs1564980510 11:17485051-17485052 11:17463504-17463505
22 ABCC8 NM_000352.6(ABCC8):c.1333-1013A>GSNV Pathogenic 39472 11:17465872-17465872 11:17444325-17444325
23 ABCC8 NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)deletion Pathogenic 157696 rs587783169 11:17426107-17426107 11:17404560-17404560
24 ABCC8 NM_001287174.2(ABCC8):c.4122+1G>ASNV Pathogenic 210078 rs797045211 11:17418462-17418462 11:17396915-17396915
25 ABCC8 NM_001287174.2(ABCC8):c.2117-1G>ASNV Pathogenic 210072 rs797045207 11:17448702-17448702 11:17427155-17427155
26 ABCC8 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)deletion Pathogenic 196880 rs151344624 11:17417435-17417437 11:17395888-17395890
27 ABCC8 NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)SNV Pathogenic 217846 rs863225280 11:17483269-17483269 11:17461722-17461722
28 ABCC8 NM_001287174.2(ABCC8):c.4311-2A>GSNV Pathogenic 280114 rs886041391 11:17416824-17416824 11:17395277-17395277
29 ABCC8 NM_001287174.2(ABCC8):c.2698-1G>CSNV Pathogenic 371626 rs1057517420 11:17430065-17430065 11:17408518-17408518
30 ABCC8 NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)SNV Pathogenic 370163 rs1057516281 11:17419891-17419891 11:17398344-17398344
31 ABCC8 NM_000352.6(ABCC8):c.1879del (p.His627fs)deletion Pathogenic 370909 rs764613146 11:17450156-17450156 11:17428609-17428609
32 ABCC8 NM_001287174.2(ABCC8):c.1630+1G>TSNV Pathogenic 370604 rs773306994 11:17464266-17464266 11:17442719-17442719
33 ABCC8 NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter)duplication Pathogenic 371346 rs1057517199 11:17483367-17483368 11:17461820-17461821
34 ABCC8 NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)deletion Pathogenic/Likely pathogenic 370210 rs1057516317 11:17424284-17424284 11:17402737-17402737
35 ABCC8 NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)deletion Pathogenic/Likely pathogenic 280115 rs886041392 11:17428448-17428467 11:17406901-17406920
36 ABCC8 NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)SNV Pathogenic/Likely pathogenic 235633 rs139964066 11:17424218-17424218 11:17402671-17402671
37 ABCC8 NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)SNV Pathogenic/Likely pathogenic 210082 rs797045213 11:17485001-17485001 11:17463454-17463454
38 ABCC8 NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)SNV Pathogenic/Likely pathogenic 210074 rs761749884 11:17491729-17491729 11:17470182-17470182
39 ABCC8 NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)SNV Pathogenic/Likely pathogenic 188836 rs72559713 11:17414656-17414656 11:17393109-17393109
40 ABCC8 NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)SNV Pathogenic/Likely pathogenic 188905 rs541269678 11:17428964-17428964 11:17407417-17407417
41 ABCC8 NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)SNV Pathogenic/Likely pathogenic 188864 rs570388861 11:17429962-17429962 11:17408415-17408415
42 ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)SNV Pathogenic/Likely pathogenic 188915 rs72559722 11:17434263-17434263 11:17412716-17412716
43 ABCC8 NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)SNV Pathogenic/Likely pathogenic 35617 rs193922402 11:17417158-17417158 11:17395611-17395611
44 ABCC8 NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)SNV Pathogenic/Likely pathogenic 9095 rs28938469 11:17417206-17417206 11:17395659-17395659
45 ABCC8 NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)SNV Pathogenic/Likely pathogenic 9096 rs28936371 11:17415881-17415881 11:17394334-17394334
46 ABCC8 NM_001287174.2(ABCC8):c.2041-21G>ASNV Pathogenic/Likely pathogenic 553929 rs746714109 11:17449510-17449510 11:17427963-17427963
47 ABCC8 NM_001287174.2(ABCC8):c.2222+1G>TSNV Pathogenic/Likely pathogenic 552779 rs1554923999 11:17448595-17448595 11:17427048-17427048
48 ABCC8 NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)SNV Pathogenic/Likely pathogenic 434045 rs72559715 11:17415926-17415926 11:17394379-17394379
49 ABCC8 NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)SNV Likely pathogenic 434046 rs1554905662 11:17418473-17418473 11:17396926-17396926
50 ABCC8 NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val)SNV Likely pathogenic 434052 rs193922405 11:17415907-17415907 11:17394360-17394360

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

73 (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

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:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.18 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
2
Show member pathways
13.91 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
3
Show member pathways
13.89 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
4
Show member pathways
13.88 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
5
Show member pathways
13.86 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
6
Show member pathways
13.65 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
7
Show member pathways
13.59 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
8
Show member pathways
13.39 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
9
Show member pathways
13.21 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
10
Show member pathways
13.14 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
11
Show member pathways
13.07 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
12
Show member pathways
12.87 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
13
Show member pathways
12.87 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
14
Show member pathways
12.7 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
15 12.69 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
16
Show member pathways
12.68 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
17
Show member pathways
12.66 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
18
Show member pathways
12.56 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
19
Show member pathways
12.55 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
20
Show member pathways
12.51 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
21
Show member pathways
12.48 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
22
Show member pathways
12.45 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
23 11.96 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.42 SLC25A46 KCNJ11 H4C9 H4C8 H4C6 H4C5
2 nucleus GO:0005634 10.4 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
3 nucleoplasm GO:0005654 10.32 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
4 extracellular exosome GO:0070062 10.31 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
5 extracellular region GO:0005576 10.3 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
6 host cell nucleus GO:0042025 10.25 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
7 protein-containing complex GO:0032991 10.21 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
8 nuclear nucleosome GO:0000788 10.17 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
9 nuclear chromosome, telomeric region GO:0000784 10.1 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
10 nuclear chromosome GO:0000228 10 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
11 chromosome GO:0005694 9.83 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
12 inward rectifying potassium channel GO:0008282 9.51 KCNJ11 ABCC8
13 nucleosome GO:0000786 9.5 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene silencing by miRNA GO:0060964 10.38 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
2 negative regulation of gene expression, epigenetic GO:0045814 10.37 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
3 negative regulation of megakaryocyte differentiation GO:0045653 10.36 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
4 regulation of megakaryocyte differentiation GO:0045652 10.34 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
5 cellular protein metabolic process GO:0044267 10.32 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
6 CENP-A containing nucleosome assembly GO:0034080 10.3 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
7 telomere organization GO:0032200 10.28 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
8 telomere capping GO:0016233 10.25 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
9 DNA-templated transcription, initiation GO:0006352 10.21 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
10 DNA replication-independent nucleosome assembly GO:0006336 10.17 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
11 DNA replication-dependent nucleosome assembly GO:0006335 10.1 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
12 nucleosome assembly GO:0006334 10 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
13 double-strand break repair via nonhomologous end joining GO:0006303 9.8 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
14 inorganic cation transmembrane transport GO:0098662 9.55 KCNJ11 ABCC8
15 chromatin silencing at rDNA GO:0000183 9.47 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.13 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
2 RNA binding GO:0003723 10 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
3 protein domain specific binding GO:0019904 9.8 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
4 protein heterodimerization activity GO:0046982 9.5 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
5 cation-transporting ATPase activity GO:0019829 9.37 KCNJ11 ABCC8
6 ATP-activated inward rectifier potassium channel activity GO:0015272 9.32 KCNJ11 ABCC8

Sources for Hyperinsulinemic Hypoglycemia, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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