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HHF1
MCID: HYP304
MIFTS: 62

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 Pathways 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 29 13 6 70
Familial Hyperinsulinemic Hypoglycemia 1 12 72 15
Hhf1 57 12 72
Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia 57 6
Persistent Hyperinsulinemic Hypoglycemia of Infancy 57 72
Congenital Hyperinsulinism 72 70
Phhi 57 72
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
Diazoxide-Resistant Focal Hyperinsulinism Due to Sur1 Deficiency 58
Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis 57
Autosomal Recessive Hyperinsulinism Due to Sur1 Deficiency 58
Persistent Hyperinsulinemic Hypoglycemia of Infancy; Phhi 57
Autosomal Dominant Hyperinsulinism Due to Sur1 Deficiency 58
Hypoglycemia, Hyperinsulinemic, Familial, Type 1 39
Hypoglycemia, Hyperinsulinemic, of Infancy 57
Nesidioblastosis of Pancreas 57
Hyperinsulinism, Congenital 57

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

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


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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) (Updated 20-May-2021)

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 1, also known as familial hyperinsulinemic hypoglycemia 1, is related to hyperinsulinemic hypoglycemia, familial, 3 and hyperinsulinemic hypoglycemia, familial, 6. 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 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. The drugs lanreotide and Angiopeptin have been mentioned in the context of this disorder. Affiliated tissues include pancreas, pancreatic islet and brain, 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 : 72 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 : 73 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 148)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 3 32.8 H4-16 H2AC18
2 hyperinsulinemic hypoglycemia, familial, 6 32.6 KCNJ11 ABCC8
3 hyperinsulinism 31.4 LOC110121471 KCNJ11 ABCC8
4 hyperinsulinemic hypoglycemia, familial, 2 31.0 SLC25A46 LOC110121471 KCNJ11 H4C9 H4C8 H4C6
5 permanent neonatal diabetes mellitus 31.0 LOC110121471 KCNJ11 ABCC8
6 acute insulin response 30.8 KCNJ11 ABCC8
7 transient neonatal diabetes mellitus 30.8 LOC110121471 KCNJ11 H2AC18 ABCC8
8 beckwith-wiedemann syndrome 30.7 KCNJ11 H2AC18 H19 ABCC8
9 asphyxia neonatorum 30.3 KCNJ11 ABCC8
10 maturity-onset diabetes of the young, type 2 30.2 KCNJ11 ABCC8
11 cantu syndrome 30.1 KCNJ11 ABCC8
12 hyperinsulinemic hypoglycemia 29.7 LOC110121471 KCNJ11 H4C9 H4C8 H4C6 H4C5
13 primary hyperoxaluria 28.7 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
14 hyperoxaluria, primary, type i 28.7 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
15 retinitis pigmentosa 28.7 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
16 hyperinsulinemic hypoglycemia, familial, 5 11.7
17 hyperinsulinemic hypoglycemia, familial, 4 11.5
18 hypoglycemia 10.7
19 autosomal recessive disease 10.5
20 munchausen by proxy 10.4 KCNJ11 ABCC8
21 factitious disorder 10.4 KCNJ11 ABCC8
22 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.4 KCNJ11 ABCC8
23 maturity-onset diabetes of the young, type 13 10.4 KCNJ11 ABCC8
24 maturity-onset diabetes of the young, type 11 10.4 KCNJ11 ABCC8
25 hyperinsulinemic hypoglycemia, familial, 7 10.4 KCNJ11 ABCC8
26 maturity-onset diabetes of the young, type 7 10.4 KCNJ11 ABCC8
27 maturity-onset diabetes of the young, type 9 10.4 KCNJ11 ABCC8
28 cardiomyopathy, dilated, 1o 10.4 KCNJ11 ABCC8
29 umbilical hernia 10.4 KCNJ11 H19 ABCC8
30 maturity-onset diabetes of the young, type 6 10.4 KCNJ11 ABCC8
31 carbonic anhydrase va deficiency, hyperammonemia due to 10.3
32 coronary artery vasospasm 10.3 KCNJ11 ABCC8
33 insulinoma 10.3
34 hyperglycemia 10.3
35 maturity-onset diabetes of the young 10.3
36 maturity-onset diabetes of the young, type 10 10.3 KCNJ11 ABCC8
37 maturity-onset diabetes of the young, type 4 10.3 KCNJ11 ABCC8
38 neonatal diabetes 10.3
39 diabetes mellitus, permanent neonatal, 1 10.3
40 ocular motor apraxia 10.2
41 gallbladder disease 1 10.2
42 abdominal obesity-metabolic syndrome 1 10.2
43 diabetes mellitus, transient neonatal, 3 10.2
44 cyanosis, transient neonatal 10.2
45 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.2
46 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
47 glucose intolerance 10.2
48 hypertrichosis 10.2
49 adenoma 10.2
50 neuroblastoma 10.2

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:

58 31 (show all 30)
# 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 coma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001259
7 progressive neurologic deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002344
8 pancreatic islet-cell hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004510
9 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000825
10 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
11 abnormal circulating fatty-acid concentration 58 31 hallmark (90%) Very frequent (99-80%) 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 58 31 frequent (33%) Frequent (79-30%) 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 hypoglycemic coma 31 HP:0001325
30 hypoglycemic seizures 31 HP:0002173

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2 Angiopeptin Phase 4
3
Furosemide Approved, Vet_approved Phase 3 54-31-9 3440
4
Glucagon Approved Phase 3 16941-32-5
5 Sodium Potassium Chloride Symporter Inhibitors Phase 3
6 Radiopharmaceuticals Phase 3
7 diuretics Phase 3
8
Pancrelipase Approved, Investigational Phase 2 53608-75-6
9
Diazoxide Approved Phase 2 364-98-7 3019
10
Levodopa Approved Phase 2 59-92-7 6047
11
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
12
tannic acid Approved Phase 1, Phase 2 1401-55-4
13 Gastrointestinal Agents Phase 2
14 pancreatin Phase 2
15 Antineoplastic Agents, Hormonal Phase 2
16 Glucagon-Like Peptide 1 Phase 2
17
Exenatide Approved, Investigational Phase 1 141758-74-9 15991534
18
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
19
Octreotide Approved, Investigational Phase 1 83150-76-9 383414 6400441
20
Somatostatin Approved, Investigational Phase 1 51110-01-1, 38916-34-6 53481605
21
Lactitol Approved, Investigational Phase 1 585-86-4 157355
22 Anti-Obesity Agents Phase 1
23 Cardiac Glycosides Phase 1
24 Glycoside Hydrolase Inhibitors Phase 1
25 Incretins Phase 1
26 insulin Phase 1
27 Insulin, Globin Zinc Phase 1
28
Insulin aspart Approved 116094-23-6 16132418
29
Canagliflozin Approved 842133-18-0
30
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
31
Dopamine Approved 51-61-6, 62-31-7 681
32
gastric inhibitory polypeptide Investigational 100040-31-1
33 Hypoglycemic Agents
34 Sodium-Glucose Transporter 2 Inhibitors
35 Nutrients
36 Dihydroxyphenylalanine
37 Dopamine Agents
38 Neurotransmitter Agents
39 Fluorides

Interventional clinical trials:

(show all 39)
# 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 Completed 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 II - PET Imaging Optimization Recruiting NCT04706910 Phase 3 18F-DOPA;Furosemide Injection
5 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Active, not recruiting NCT03042416 Phase 3 18F-DOPA
6 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
7 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
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 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
11 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
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 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
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 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
16 18F-Fluoro-L- DOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism Recruiting NCT04205604 Phase 2 18F-Fluoro Dopa Imaging
17 An Open-Label Multiple-Dose Study of RZ358 in Patients With Congenital Hyperinsulinism Recruiting NCT04538989 Phase 2 RZ358 Sequential Group Cohort 1;RZ358 Sequential Group Cohort 2;RZ358 Sequential Group Cohort 3;RZ358 Sequential Group Cohort 4
18 A Phase 2, Multiple Ascending Dose, Open-label, Proof-of-concept Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of HM15136 Treatment for 8 Weeks in Subjects Aged ≥2 Years With Congenital Hyperinsulinism (CHI) Not yet recruiting NCT04732416 Phase 2 HM15136
19 A Phase 2, Open-Label, Cross-over Study to Assess the Safety and Efficacy of Avexitide in Acquired Hyperinsulinemic Hypoglycemia Not yet recruiting NCT04652479 Phase 2 Avexitide
20 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
21 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
22 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
23 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
24 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
25 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
26 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
27 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Unknown status NCT03768518
28 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Unknown status NCT03930368
29 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
30 Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Children With Congenital Hyperinsulinism - A Pilot Study Completed NCT03303196
31 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
32 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery, Part 1 C: Effect of Postprandial Hypoglycaemia on Driving Performance. Completed NCT04330196
33 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541
34 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery Part 1 B: Evaluation of the Neuro-endocrine Response to Hypoglycaemia. Recruiting NCT04334161
35 Canagliflozin: a New Therapeutic Option in Patients That Present Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y-gastric By-pass Recruiting NCT04720859 Canagliflozin 300 MG Oral Tablet
36 Role of Nutrient Transit and Incretin Hormones in Hyperinsulinemic Hypoglycemia Recruiting NCT04615546
37 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
38 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
39 Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia No longer 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 Hyperinsulinemic Hypoglycemia, Familial, 1 29 ABCC8
Sources

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 1

About this section

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

40
Pancreas, Pancreatic Islet, Brain, Kidney, B Cells, Myeloid, Pituitary
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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 181)
# Title Authors PMID Year
1
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. 6 57
23273570 2013
2
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. 57 6
21978130 2012
3
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. 6 57
21716120 2011
4
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 6 57
20685672 2010
5
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 57 6
18596924 2008
6
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 57 6
15562009 2005
7
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 57 6
15579781 2004
8
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. 57 6
12941782 2003
9
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. 6 57
12559865 2003
10
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 57 6
11018078 2000
11
Clinical features of 52 neonates with hyperinsulinism. 6 57
10202168 1999
12
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. 6 57
10334322 1999
13
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. 57 6
9769320 1998
14
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. 57 6
9469993 1998
15
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. 6 57
8923011 1996
16
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. 57 6
8751851 1996
17
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. 57 6
7716548 1995
18
Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. 57 6
7847376 1995
19
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping. 6
31464105 2019
20
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China 6
31208162 2019
21
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia. 6
30352420 2018
22
Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism. 6
30186238 2018
23
Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years. 6
28270372 2017
24
Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets. 6
28442472 2017
25
Neonatal Diabetes: A Case Series. 6
27889714 2017
26
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. 6
27691052 2016
27
Clinical whole exome sequencing in early onset diabetes patients. 6
27810688 2016
28
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 6
27908292 2016
29
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. 6
27573238 2016
30
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 6
27682711 2016
31
Clinical and genetic characterization of congenital hyperinsulinism in Spain. 6
27188453 2016
32
Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease. 6
27334808 2016
33
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. 6
25639667 2016
34
Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. 6
26545876 2016
35
ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes. 6
26246406 2015
36
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. 6
26740944 2015
37
Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel. 6
25931474 2015
38
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. 6
26268944 2015
39
Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds. 6
25781672 2015
40
Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. 6
25518065 2015
41
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 6
25720052 2015
42
Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism. 6
25765446 2015
43
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 6
26180531 2015
44
Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia. 6
25972930 2015
45
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
46
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. 6
25201519 2014
47
Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by (18) F DOPA-PET/CT scanning. 6
24750227 2014
48
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 6
25117148 2014
49
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. 6
24686051 2014
50
Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. 6
24645945 2014
Sources

Variations for Hyperinsulinemic Hypoglycemia, Familial, 1

About this section

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

6 (show top 50) (show all 456)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ11 NM_000525.3(KCNJ11):c.776A>G (p.His259Arg) SNV Pathogenic 8677 rs104894248 GRCh37: 11:17408863-17408863
GRCh38: 11:17387316-17387316
2 KCNJ11 NM_000525.3(KCNJ11):c.466G>A (p.Gly156Arg) SNV Pathogenic 8684 rs1404429785 GRCh37: 11:17409173-17409173
GRCh38: 11:17387626-17387626
3 KCNJ11 NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys) SNV Pathogenic 435558 rs766891274 GRCh37: 11:17409233-17409233
GRCh38: 11:17387686-17387686
4 KCNJ11 NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) SNV Pathogenic 211230 rs780957825 GRCh37: 11:17408758-17408758
GRCh38: 11:17387211-17387211
5 KCNJ11 NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu) SNV Pathogenic 8675 rs104894237 GRCh37: 11:17408878-17408878
GRCh38: 11:17387331-17387331
6 KCNJ11 NM_000525.3(KCNJ11):c.-134G>T SNV Pathogenic 8674 rs387906398 GRCh37: 11:17409772-17409772
GRCh38: 11:17388225-17388225
7 KCNJ11 NM_001166290.2(KCNJ11):c.-16-210C>A SNV Pathogenic 8673 rs104894236 GRCh37: 11:17409603-17409603
GRCh38: 11:17388056-17388056
8 KCNJ11 NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro) SNV Pathogenic 8665 rs28936678 GRCh37: 11:17409199-17409199
GRCh38: 11:17387652-17387652
9 KCNJ11 NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del) Microsatellite Pathogenic 988945 GRCh37: 11:17408745-17408747
GRCh38: 11:17387198-17387200
10 KCNJ11 NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) SNV Pathogenic 8686 rs267607196 GRCh37: 11:17408795-17408795
GRCh38: 11:17387248-17387248
11 ABCC8 NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) SNV Pathogenic 9086 rs387906407 GRCh37: 11:17417157-17417157
GRCh38: 11:17395610-17395610
12 ABCC8 NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val) SNV Pathogenic 18449 rs72559723 GRCh37: 11:17448671-17448671
GRCh38: 11:17427124-17427124
13 ABCC8 , LOC110121471 NM_000352.5(ABCC8):c.2292-1G>A SNV Pathogenic 9090 rs1564905676 GRCh37: 11:17436158-17436158
GRCh38: 11:17414611-17414611
14 ABCC8 NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) SNV Pathogenic 9097 rs137852671 GRCh37: 11:17415842-17415842
GRCh38: 11:17394295-17394295
15 ABCC8 NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) SNV Pathogenic 9099 rs137852672 GRCh37: 11:17485004-17485004
GRCh38: 11:17463457-17463457
16 ABCC8 NM_000352.4(ABCC8):c.-190C>G SNV Pathogenic 9101 rs1395224084 GRCh37: 11:17498513-17498513
GRCh38: 11:17476966-17476966
17 ABCC8 NM_000352.4:c.(?_1818)_(1923_?)del Deletion Pathogenic 39470 GRCh37:
GRCh38:
18 ABCC8 NM_000352.6(ABCC8):c.512dup (p.Thr172fs) Duplication Pathogenic 39471 rs1564980510 GRCh37: 11:17485051-17485052
GRCh38: 11:17463504-17463505
19 ABCC8 NM_000352.6(ABCC8):c.1333-1013A>G SNV Pathogenic 39472 GRCh37: 11:17465872-17465872
GRCh38: 11:17444325-17444325
20 ABCC8 NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) SNV Pathogenic 9094 rs28936370 GRCh37: 11:17418527-17418527
GRCh38: 11:17396980-17396980
21 ABCC8 NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) Deletion Pathogenic 157696 rs587783169 GRCh37: 11:17426107-17426107
GRCh38: 11:17404560-17404560
22 ABCC8 NM_000352.5(ABCC8):c.2117-1G>A SNV Pathogenic 210072 rs797045207 GRCh37: 11:17448702-17448702
GRCh38: 11:17427155-17427155
23 ABCC8 NM_001287174.2(ABCC8):c.1630+1G>T SNV Pathogenic 370604 rs773306994 GRCh37: 11:17464266-17464266
GRCh38: 11:17442719-17442719
24 ABCC8 NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter) Duplication Pathogenic 371346 rs1057517199 GRCh37: 11:17483367-17483368
GRCh38: 11:17461820-17461821
25 ABCC8 NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) SNV Pathogenic 370163 rs1057516281 GRCh37: 11:17419891-17419891
GRCh38: 11:17398344-17398344
26 ABCC8 , LOC110121471 NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs) Indel Pathogenic 434054 rs1554917411 GRCh37: 11:17436142-17436154
GRCh38: 11:17414595-17414607
27 ABCC8 NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) SNV Pathogenic 434056 rs139328569 GRCh37: 11:17452386-17452386
GRCh38: 11:17430839-17430839
28 ABCC8 NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg) SNV Pathogenic 434044 rs1554904102 GRCh37: 11:17415908-17415908
GRCh38: 11:17394361-17394361
29 ABCC8 NM_000352.6(ABCC8):c.1752del (p.His584fs) Deletion Pathogenic 434060 rs1554926539 GRCh37: 11:17452426-17452426
GRCh38: 11:17430879-17430879
30 ABCC8 NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) Duplication Pathogenic 434055 rs768951263 GRCh37: 11:17470110-17470111
GRCh38: 11:17448563-17448564
31 ABCC8 NM_000352.6(ABCC8):c.1634del (p.Phe545fs) Deletion Pathogenic 446765 rs1260178539 GRCh37: 11:17453788-17453788
GRCh38: 11:17432241-17432241
32 ABCC8 NM_001287174.2(ABCC8):c.3871-1G>A SNV Pathogenic 552652 rs766431403 GRCh37: 11:17418861-17418861
GRCh38: 11:17397314-17397314
33 ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) SNV Pathogenic 495834 rs72559734 GRCh37: 11:17496502-17496502
GRCh38: 11:17474955-17474955
34 ABCC8 NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) SNV Pathogenic 217846 rs863225280 GRCh37: 11:17483269-17483269
GRCh38: 11:17461722-17461722
35 ABCC8 NM_000352.6(ABCC8):c.598del (p.Thr200fs) Deletion Pathogenic 802661 rs1591890137 GRCh37: 11:17483354-17483354
GRCh38: 11:17461807-17461807
36 ABCC8 NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) SNV Pathogenic 633027 rs1564977373 GRCh37: 11:17483257-17483257
GRCh38: 11:17461710-17461710
37 ABCC8 NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter) SNV Pathogenic 585343 rs755259997 GRCh37: 11:17428490-17428490
GRCh38: 11:17406943-17406943
38 ABCC8 NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) SNV Pathogenic 585351 rs72559730 GRCh37: 11:17483210-17483210
GRCh38: 11:17461663-17461663
39 ABCC8 NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn) SNV Pathogenic 977924 GRCh37: 11:17432200-17432200
GRCh38: 11:17410653-17410653
40 ABCC8 NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) SNV Pathogenic 632619 rs367850779 GRCh37: 11:17424217-17424217
GRCh38: 11:17402670-17402670
41 ABCC8 NM_000352.6(ABCC8):c.3989-9G>A SNV Pathogenic 9088 rs151344623 GRCh37: 11:17418602-17418602
GRCh38: 11:17397055-17397055
42 ABCC8 NM_000352.6(ABCC8):c.4154_4156CCT[1] (p.Ser1386del) Microsatellite Pathogenic 9100 rs387906408 GRCh37: 11:17417438-17417440
GRCh38: 11:17395891-17395893
43 ABCC8 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) Deletion Pathogenic 196880 rs151344624 GRCh37: 11:17417435-17417437
GRCh38: 11:17395888-17395890
44 ABCC8 NM_000352.5(ABCC8):c.4119+1G>A SNV Pathogenic 210078 rs797045211 GRCh37: 11:17418462-17418462
GRCh38: 11:17396915-17396915
45 ABCC8 NM_000352.6(ABCC8):c.1879del (p.His627fs) Deletion Pathogenic 370909 rs764613146 GRCh37: 11:17450156-17450156
GRCh38: 11:17428609-17428609
46 ABCC8 NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) SNV Pathogenic 434053 rs769518471 GRCh37: 11:17428605-17428605
GRCh38: 11:17407058-17407058
47 ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) SNV Pathogenic 188915 rs72559722 GRCh37: 11:17434263-17434263
GRCh38: 11:17412716-17412716
48 ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) SNV Pathogenic/Likely pathogenic 188915 rs72559722 GRCh37: 11:17434263-17434263
GRCh38: 11:17412716-17412716
49 ABCC8 NM_000352.6(ABCC8):c.2833_2834GA[1] (p.Arg946fs) Microsatellite Pathogenic/Likely pathogenic 556981 rs1554913069 GRCh37: 11:17428983-17428986
GRCh38: 11:17407436-17407439
50 ABCC8 NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) Deletion Pathogenic/Likely pathogenic 280115 rs886041392 GRCh37: 11:17428448-17428467
GRCh38: 11:17406901-17406920

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

72 (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

Sources

Expression for Hyperinsulinemic Hypoglycemia, Familial, 1

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

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 14.18 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
2
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 65
Show member pathways
 13.92 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
3
Gene Expression 65
Show member pathways
 13.9 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
4
Metabolism of proteins 65
Show member pathways
 13.88 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
5
Apoptotic Pathways in Synovial Fibroblasts 63
Show member pathways
 13.86 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
6
Developmental Biology 65
Show member pathways
 13.65 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
7
Cell Cycle, Mitotic 65
Show member pathways
 13.59 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
8
DNA Double-Strand Break Repair 65
Show member pathways
 13.39 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
9
RNA Polymerase II Transcription Initiation And Promoter Clearance 65
Show member pathways
 13.21 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
10
Signaling by Rho GTPases 65
Show member pathways
 13.14 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
11
Signaling by Wnt 65
Show member pathways
 13.07 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
12
Cell Cycle Checkpoints 65
Show member pathways
 12.87 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
13
Mitotic Prophase 65
Show member pathways
 12.87 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
14
DNA Double Strand Break Response 65
Show member pathways
 12.7 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
15
Viral carcinogenesis 36
12.69 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
16
Chromatin organization 65
Show member pathways
 12.68 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
17
Meiosis 65
Show member pathways
 12.66 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
18
Chromosome Maintenance 65
Show member pathways
 12.56 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
19
Development NOTCH1-mediated pathway for NF-KB activity modulation 23
Show member pathways
 12.55 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
20
PKMTs methylate histone lysines 65
Show member pathways
 12.51 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
21
DNA Damage/Telomere Stress Induced Senescence 65
Show member pathways
 12.48 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
22
Cellular Senescence (REACTOME) 65
Show member pathways
 12.45 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
23
Signaling events mediated by HDAC Class III 1
11.96 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
Sources

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.41 SLC25A46 KCNJ11 H4C9 H4C8 H4C6 H4C5
2 nucleus GO:0005634 10.39 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
3 nucleoplasm GO:0005654 10.3 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
4 extracellular region GO:0005576 10.28 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
5 extracellular exosome GO:0070062 10.28 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
6 host cell nucleus GO:0042025 10.21 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
7 protein-containing complex GO:0032991 10.17 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
8 chromosome, telomeric region GO:0000781 10.1 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
9 nuclear chromosome GO:0000228 10 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
10 chromosome GO:0005694 9.83 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
11 nucleosome GO:0000786 9.5 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
12 inward rectifying potassium channel GO:0008282 9.49 KCNJ11 ABCC8

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

Sources for Hyperinsulinemic Hypoglycemia, Familial, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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