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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 56 13 71
Persistent Hyperinsulinemic Hypoglycemia of Infancy 56 73 29 6
Familial Hyperinsulinemic Hypoglycemia 1 12 73 15
Hhf1 56 12 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;
autosomal recessive hyperinsulinism due to sur1 deficiency
Inheritance: Autosomal recessive;

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:

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: 33
Orphanet: 58  
Rare endocrine diseases


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Summaries for Hyperinsulinemic Hypoglycemia, Familial, 1

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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 persistent hyperinsulinemic hypoglycemia of infancy, is related to hyperinsulinemic hypoglycemia, familial, 2 and retinitis pigmentosa. 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 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 : 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...

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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 121)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 2 26.7 SUPT16H SLC25A46 H4C9 H4C8 H4C6 H4C5
2 retinitis pigmentosa 24.4 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
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 hyperinsulinemic hypoglycemia 10.8
8 hypoglycemia 10.8
9 hyperinsulinism 10.8
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 paternal uniparental disomy 10.2
16 overgrowth syndrome 10.2
17 diabetes mellitus, noninsulin-dependent 10.2
18 beckwith-wiedemann syndrome 10.2
19 ocular motor apraxia 10.2
20 gallbladder disease 1 10.2
21 diabetes mellitus, insulin-dependent, 11 10.2
22 abdominal obesity-metabolic syndrome 1 10.2
23 cyanosis, transient neonatal 10.2
24 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
25 glucose intolerance 10.2
26 hypertrichosis 10.2
27 adenoma 10.2
28 neuroblastoma 10.2
29 kabuki syndrome 1 10.2
30 acute insulin response 10.2
31 monogenic diabetes 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 biotin deficiency 10.1 H4C12 H2AC18
38 enterocolitis 10.0
39 insulin-like growth factor i 10.0
40 helix syndrome 10.0
41 pulmonary hypertension 10.0
42 fanconi syndrome 10.0
43 exocrine pancreatic insufficiency 10.0
44 gonadal dysgenesis 10.0
45 glycogen storage disease 10.0
46 turner syndrome 10.0
47 hepatoblastoma 10.0
48 diabetes mellitus 10.0
49 hypopituitarism 10.0
50 fasting hypoglycemia 10.0

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 31)
# 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 coma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001259
4 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000825
5 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
6 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
7 tachycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001649
8 progressive neurologic deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002344
9 pancreatic islet-cell hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004510
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 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
18 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
19 agitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000713
20 large for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001520
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 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
24 abnormal brain fdg positron emission tomography 58 31 occasional (7.5%) Occasional (29-5%) HP:0012658
25 intellectual disability 31 HP:0001249
26 cognitive impairment 58 Frequent (79-30%)
27 hyperinsulinemia 58 Very frequent (99-80%)
28 hypoglycemic seizures 31 HP:0002173
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

Symptoms via clinical synopsis from OMIM:

56
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

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

26 (show all 44)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.35 H4C13 H4C14 H4C15 SUPT16H
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.35 H4C13 H2AC18
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.35 H4C11 H4C12
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.35 H4C13
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.35 H4C11 H4C12
6 Increased shRNA abundance (Z-score > 2) GR00366-A-144 10.35 SUPT16H
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.35 H4C13
8 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.35 H4C14 H4C15
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.35 H4C13 H2AC18
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.35 H4C13
11 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.35 SUPT16H
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.35 H4C14 H4C15
13 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.35 SUPT16H
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.35 H4C13
15 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.35 H4C11 H4C12
16 Increased shRNA abundance (Z-score > 2) GR00366-A-24 10.35 SUPT16H
17 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.35 H4C11 H4C12
18 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.35 SUPT16H
19 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.35 H4C11 H4C12
20 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.35 SUPT16H H4C11 H4C12
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.35 H4C14 H4C15
22 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.35 SUPT16H H2AC18
23 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.35 H4C13
24 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.35 H4C13 H4C14 H4C15
25 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.35 H4C11 H4C12
26 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.35 H4C14 H4C15
27 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.35 H4C14 H4C15
28 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.35 H4C13 H4C14 H4C15 SUPT16H H2AC18
29 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.35 H4C11 H4C12
30 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.35 H4C11 H4C12
31 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.35 H4C14 H4C15 H2AC18
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.98 H4-16
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.98 H4C11 H4C12
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.98 H4-16 H4C11 H4C12 H4C13 H4C5
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.98 H4C13
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.98 H4C13
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.98 H4C13 H4C5
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.98 H4C5
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.98 H4C5
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.98 H4C11 H4C12
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.98 H4C5
42 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.98 H4C11 H4C12
43 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.98 H4C5
44 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.98 H4-16
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
Pancrelipase Approved, Investigational Phase 2 53608-75-6
6
Exenatide Approved, Investigational Phase 1, Phase 2 141758-74-9 15991534
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 Antineoplastic Agents, Hormonal Phase 2
11 Hypoglycemic Agents Phase 1, 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 Blood Substitutes Phase 1, Phase 2
17 Plasma Substitutes Phase 1, Phase 2
18 Gastrointestinal Agents Phase 2
19 Incretins Phase 2
20 Glucagon-Like Peptide 1 Phase 1, Phase 2
21 Anesthetics, Local Phase 1, Phase 2
22 Anesthetics Phase 1, Phase 2
23 Central Nervous System Depressants Phase 1, Phase 2
24
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
25
Octreotide Approved, Investigational Phase 1 83150-76-9 6400441 383414
26
Levodopa Approved Phase 1 59-92-7 6047
27
Lactitol Investigational Phase 1 585-88-6, 585-86-4 493591
28 Glycoside Hydrolase Inhibitors Phase 1
29 Cardiac Glycosides Phase 1
30 insulin Phase 1
31 Insulin, Globin Zinc Phase 1
32
Insulin aspart Approved 116094-23-6 16132418
33
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
34
Dopamine Approved 51-61-6, 62-31-7 681
35
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
36 Tocotrienol Investigational 6829-55-6
37 Trace Elements
38 Vitamins
39 Micronutrients
40 Nutrients
41 Tocopherols
42 Protective Agents
43 Tocotrienols
44 Antioxidants
45 Dopamine Agents
46 Dihydroxyphenylalanine
47 Neurotransmitter Agents
48 Fluorides

Interventional clinical trials:

(show all 33)
# 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 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Recruiting NCT03984370 Phase 3 ZP4207
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 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
8 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
9 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)
10 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
11 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
12 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
13 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
14 Effect of Gelofusine on 111In-DTPA-AHX-Lys40-Exendin 4 Uptake in the Kidney Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
15 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
16 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)
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 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222
30 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Recruiting NCT03930368
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

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
Sources

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 1

About this section

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

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

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. 61 56 6
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. 61 6 56
9769320 1998
3
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. 61 6 56
8751851 1996
4
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. 56 6 61
7716548 1995
5
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. 56 6
23273570 2013
6
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. 56 6
21978130 2012
7
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 6 56
18596924 2008
8
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 6 56
15579781 2004
9
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. 56 6
12941782 2003
10
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. 6 56
12559865 2003
11
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 6 56
11018078 2000
12
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. 56 6
9469993 1998
13
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. 56 6
8923011 1996
14
Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. 6 61
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. 56 61
10567373 1999
16
Congenital hyperinsulinism: molecular basis of a heterogeneous disease. 61 56
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. 56 61
9259578 1997
18
An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. 61 56
9100595 1997
19
Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. 61 56
7847376 1995
20
Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): autosomal recessive inheritance in 7 pedigrees. 61 56
2260597 1990
21
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. 56
21716120 2011
22
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. 6
20573158 2011
23
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. 6
21378087 2011
24
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 56
20685672 2010
25
Large islets, beta-cell proliferation, and a glucokinase mutation. 56
20375417 2010
26
The genetic basis of congenital hyperinsulinism. 56
19254908 2009
27
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism. 56
16882742 2006
28
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 56
15562009 2005
29
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 56
15277402 2004
30
Familial Hyperinsulinism 6
20301549 2003
31
Facial appearance in persistent hyperinsulinemic hypoglycemia. 56
12210338 2002
32
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. 56
11808879 2002
33
Clinical and genetic heterogeneity in congenital hyperinsulinism. 56
11808881 2002
34
Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia. 56
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. 56
10487673 1999
36
Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene. 56
10426386 1999
37
Noninsulinoma pancreatogenous hypoglycemia: a novel syndrome of hyperinsulinemic hypoglycemia in adults independent of mutations in Kir6.2 and SUR1 genes. 56
10323384 1999
38
Clinical features of 52 neonates with hyperinsulinism. 56
10202168 1999
39
Neonatal Hyperinsulinism. 56
10322395 1999
40
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. 6
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. 56
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. 56
7633448 1995
43
A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. 56
7789978 1995
44
Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. 56
8545179 1995
45
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. 56
7920639 1994
46
Prenatal diagnosis of familial neonatal hyperinsulinemia. 56
8374219 1993
47
A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism. 56
1421899 1992
48
Familial hyperinsulinism presenting in adults. 56
1358043 1992
49
Familial hyperinsulinism: successful conservative management. 56
1941376 1991
50
Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. 56
1941377 1991
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 209) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC8 NM_001287174.2(ABCC8):c.4310G>A (p.Arg1437Gln)SNV Pathogenic 9086 rs387906407 11:17417157-17417157 11:17395610-17395610
2 ABCC8 NM_001287174.2(ABCC8):c.3992-9G>ASNV Pathogenic 9088 rs151344623 11:17418602-17418602 11:17397055-17397055
3 ABCC8 NM_001287174.2(ABCC8):c.2295-1G>ASNV Pathogenic 9090 rs1564905676 11:17436158-17436158 11:17414611-17414611
4 ABCC8 NM_001287174.2(ABCC8):c.4519G>A (p.Glu1507Lys)SNV Pathogenic 9097 rs137852671 11:17415842-17415842 11:17394295-17394295
5 ABCC8 NM_001287174.2(ABCC8):c.560T>A (p.Val187Asp)SNV Pathogenic 9099 rs137852672 11:17485004-17485004 11:17463457-17463457
6 ABCC8 NM_001287174.2(ABCC8):c.4157_4159CCT[1] (p.Ser1387del)short repeat Pathogenic 9100 rs387906408 11:17417438-17417440 11:17395891-17395893
7 ABCC8 NM_000352.4(ABCC8):c.-190C>GSNV Pathogenic 9101 rs1395224084 11:17498513-17498513 11:17476966-17476966
8 ABCC8 NM_001287174.2(ABCC8):c.2147G>T (p.Gly716Val)SNV Pathogenic 18449 rs72559723 11:17448671-17448671 11:17427124-17427124
9 ABCC8 NM_001287174.2(ABCC8):c.4058G>C (p.Arg1353Pro)SNV Pathogenic 9094 rs28936370 11:17418527-17418527 11:17396980-17396980
10 ABCC8 NM_000352.4:c.(?_1818)_(1923_?)deldeletion Pathogenic 39470
11 ABCC8 NM_001287174.2(ABCC8):c.512dup (p.Thr172fs)duplication Pathogenic 39471 rs1564980510 11:17485052-17485052 11:17463505-17463505
12 ABCC8 ABCC8, IVS8, A-G, -1013SNV Pathogenic 39472
13 ABCC8 NM_001287174.2(ABCC8):c.3512del (p.Leu1171fs)deletion Pathogenic 157696 rs587783169 11:17426107-17426107 11:17404560-17404560
14 ABCC8 NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del)deletion Pathogenic 196880 rs151344624 11:17417435-17417437 11:17395888-17395890
15 ABCC8 NM_001287174.2(ABCC8):c.2117-1G>ASNV Pathogenic 210072 rs797045207 11:17448702-17448702 11:17427155-17427155
16 ABCC8 NM_001287174.2(ABCC8):c.3751C>T (p.Arg1251Ter)SNV Pathogenic 370163 rs1057516281 11:17419891-17419891 11:17398344-17398344
17 ABCC8 NM_001287174.2(ABCC8):c.1630+1G>TSNV Pathogenic 370604 rs773306994 11:17464266-17464266 11:17442719-17442719
18 ABCC8 NM_001287174.2(ABCC8):c.584dup (p.Tyr195Ter)duplication Pathogenic 371346 rs1057517199 11:17483368-17483368 11:17461821-17461821
19 ABCC8 NM_001287174.2(ABCC8):c.4453G>A (p.Gly1485Arg)SNV Pathogenic 434044 rs1554904102 11:17415908-17415908 11:17394361-17394361
20 ABCC8 NM_001287174.2(ABCC8):c.2298_2310delinsAA (p.Arg767fs)indel Pathogenic 434054 rs1554917411 11:17436142-17436154 11:17414595-17414607
21 ABCC8 NM_001287174.2(ABCC8):c.1792C>T (p.Arg598Ter)SNV Pathogenic 434056 rs139328569 11:17452386-17452386 11:17430839-17430839
22 ABCC8 NM_001287174.2(ABCC8):c.1752del (p.His584fs)deletion Pathogenic 434060 rs1554926539 11:17452426-17452426 11:17430879-17430879
23 ABCC8 NM_001287174.2(ABCC8):c.1254_1284dup (p.Met429Ter)duplication Pathogenic 434055 rs768951263 11:17470111-17470141 11:17448564-17448594
24 ABCC8 NM_001287174.2(ABCC8):c.1634del (p.Phe545fs)deletion Pathogenic 446765 rs1260178539 11:17453788-17453788 11:17432241-17432241
25 ABCC8 NM_001287174.2(ABCC8):c.221G>A (p.Arg74Gln)SNV Pathogenic 495834 rs72559734 11:17496502-17496502 11:17474955-17474955
26 ABCC8 NM_001287174.2(ABCC8):c.3871-1G>ASNV Pathogenic 552652 rs766431403 11:17418861-17418861 11:17397314-17397314
27 ABCC8 NM_001287174.2(ABCC8):c.4435G>A (p.Gly1479Arg)SNV Pathogenic/Likely pathogenic 434045 rs72559715 11:17415926-17415926 11:17394379-17394379
28 ABCC8 NM_001287174.2(ABCC8):c.1879del (p.His627fs)deletion Pathogenic/Likely pathogenic 370909 rs764613146 11:17450156-17450156 11:17428609-17428609
29 ABCC8 NM_001287174.2(ABCC8):c.62T>A (p.Val21Asp)SNV Pathogenic/Likely pathogenic 495835 rs200670692 11:17498262-17498262 11:17476715-17476715
30 ABCC8 NM_001287174.2(ABCC8):c.2222+1G>TSNV Pathogenic/Likely pathogenic 552779 rs1554923999 11:17448595-17448595 11:17427048-17427048
31 ABCC8 NM_001287174.2(ABCC8):c.2698-1G>CSNV Pathogenic/Likely pathogenic 371626 rs1057517420 11:17430065-17430065 11:17408518-17408518
32 ABCC8 NM_001287174.2(ABCC8):c.3133_3152del (p.Thr1045fs)deletion Pathogenic/Likely pathogenic 280115 rs886041392 11:17428448-17428467 11:17406901-17406920
33 ABCC8 NM_001287174.2(ABCC8):c.3577del (p.Asp1193fs)deletion Pathogenic/Likely pathogenic 370210 rs1057516317 11:17424284-17424284 11:17402737-17402737
34 ABCC8 NM_001287174.2(ABCC8):c.563A>G (p.Asn188Ser)SNV Pathogenic/Likely pathogenic 210082 rs797045213 11:17485001-17485001 11:17463454-17463454
35 ABCC8 NM_001287174.2(ABCC8):c.331G>A (p.Gly111Arg)SNV Pathogenic/Likely pathogenic 210074 rs761749884 11:17491729-17491729 11:17470182-17470182
36 ABCC8 NM_001287174.2(ABCC8):c.4122+1G>ASNV Pathogenic/Likely pathogenic 210078 rs797045211 11:17418462-17418462 11:17396915-17396915
37 ABCC8 NM_001287174.2(ABCC8):c.3643C>T (p.Arg1215Trp)SNV Pathogenic/Likely pathogenic 235633 rs139964066 11:17424218-17424218 11:17402671-17402671
38 ABCC8 NM_001287174.2(ABCC8):c.2509C>T (p.Arg837Ter)SNV Pathogenic/Likely pathogenic 188915 rs72559722 11:17434263-17434263 11:17412716-17412716
39 ABCC8 NM_001287174.2(ABCC8):c.4631T>C (p.Leu1544Pro)SNV Pathogenic/Likely pathogenic 188836 rs72559713 11:17414656-17414656 11:17393109-17393109
40 ABCC8 NM_001287174.2(ABCC8):c.4414G>A (p.Asp1472Asn)SNV Pathogenic/Likely pathogenic 188931 rs72559716 11:17416719-17416719 11:17395172-17395172
41 ABCC8 NM_001287174.2(ABCC8):c.2860C>T (p.Gln954Ter)SNV Pathogenic/Likely pathogenic 188905 rs541269678 11:17428964-17428964 11:17407417-17407417
42 ABCC8 NM_001287174.2(ABCC8):c.4261C>T (p.Arg1421Cys)SNV Pathogenic/Likely pathogenic 9095 rs28938469 11:17417206-17417206 11:17395659-17395659
43 ABCC8 NM_001287174.2(ABCC8):c.4480C>T (p.Arg1494Trp)SNV Pathogenic/Likely pathogenic 9096 rs28936371 11:17415881-17415881 11:17394334-17394334
44 ABCC8 NM_001287174.2(ABCC8):c.4309C>T (p.Arg1437Ter)SNV Pathogenic/Likely pathogenic 35617 rs193922402 11:17417158-17417158 11:17395611-17395611
45 ABCC8 NM_001287174.2(ABCC8):c.4454G>A (p.Gly1485Glu)SNV Likely pathogenic 35620 rs193922405 11:17415907-17415907 11:17394360-17394360
46 ABCC8 NM_001287174.2(ABCC8):c.2800C>T (p.Arg934Ter)SNV Likely pathogenic 188864 rs570388861 11:17429962-17429962 11:17408415-17408415
47 ABCC8 NM_001287174.2(ABCC8):c.3127_3129delinsCAGCCAGGAACTG (p.Thr1043fs)indel Likely pathogenic 188894 rs786204542 11:17428471-17428473 11:17406924-17406926
48 ABCC8 NM_001287174.2(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer)deletion Likely pathogenic 189120 rs786204717 11:17448691-17448694 11:17427144-17427147
49 ABCC8 NM_001287174.2(ABCC8):c.2116+2T>CSNV Likely pathogenic 189078 rs786204676 11:17449412-17449412 11:17427865-17427865
50 ABCC8 NM_001287174.2(ABCC8):c.4519_4539dup (p.Glu1507_Asp1513dup)duplication Likely pathogenic 210081 rs797045212 11:17415822-17415842 11:17394275-17394295

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

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
 14.2 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
2
Gene Expression 65
Show member pathways
 13.94 SUPT16H H4C9 H4C8 H4C6 H4C5 H4C4
3
Metabolism of proteins 65
Show member pathways
 13.93 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
4
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 65
Show member pathways
 13.91 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
5
Apoptotic Pathways in Synovial Fibroblasts 63
Show member pathways
 13.87 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
6
Developmental Biology 65
Show member pathways
 13.68 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
7
DNA Double-Strand Break Repair 65
Show member pathways
 13.39 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
8
RNA Polymerase II Transcription Initiation And Promoter Clearance 65
Show member pathways
 13.22 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
9
Signaling by Rho GTPases 65
Show member pathways
 13.2 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
10
Signaling by Wnt 65
Show member pathways
 13.12 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
11
Mitotic Prophase 65
Show member pathways
 12.93 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
12
Cell Cycle Checkpoints 65
Show member pathways
 12.92 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
13
Chromatin organization 65
Show member pathways
 12.9 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
14
Cellular Senescence (REACTOME) 65
Show member pathways
 12.81 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
15
Meiosis 65
Show member pathways
 12.74 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
16
DNA Double Strand Break Response 65
Show member pathways
 12.73 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
17
Viral carcinogenesis 36
12.7 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
18
Chromosome Maintenance 65
Show member pathways
 12.69 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
19
Cell Cycle, Mitotic 65
Show member pathways
 12.69 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
20
Development NOTCH1-mediated pathway for NF-KB activity modulation 22
Show member pathways
 12.61 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
21
DNA Damage/Telomere Stress Induced Senescence 65
Show member pathways
 12.57 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
22
PKMTs methylate histone lysines 65
Show member pathways
 12.54 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
23
Signaling events mediated by HDAC Class III 1
11.99 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 11)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.41 SUPT16H H4C9 H4C8 H4C6 H4C5 H4C4
2 membrane GO:0016020 10.4 SLC25A46 H4C9 H4C8 H4C6 H4C5 H4C4
3 nucleoplasm GO:0005654 10.36 SUPT16H H4C9 H4C8 H4C6 H4C5 H4C4
4 extracellular exosome GO:0070062 10.31 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
5 extracellular region GO:0005576 10.28 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
6 protein-containing complex GO:0032991 10.21 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
7 nuclear nucleosome GO:0000788 10.17 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
8 nuclear chromosome, telomeric region GO:0000784 10.1 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
9 nuclear chromosome GO:0000228 10 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
10 nucleosome GO:0000786 9.86 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
11 chromosome GO:0005694 9.55 SUPT16H H4C9 H4C8 H4C6 H4C5 H4C4

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 10.39 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
2 protein heterotetramerization GO:0051290 10.38 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
3 negative regulation of gene expression, epigenetic GO:0045814 10.37 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
4 negative regulation of megakaryocyte differentiation GO:0045653 10.36 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
5 regulation of megakaryocyte differentiation GO:0045652 10.34 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
6 cellular protein metabolic process GO:0044267 10.32 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
7 CENP-A containing nucleosome assembly GO:0034080 10.3 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
8 telomere organization GO:0032200 10.28 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
9 telomere capping GO:0016233 10.25 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
10 DNA-templated transcription, initiation GO:0006352 10.21 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
11 DNA replication-independent nucleosome assembly GO:0006336 10.17 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
12 DNA replication-dependent nucleosome assembly GO:0006335 10.1 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
13 double-strand break repair via nonhomologous end joining GO:0006303 10 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
14 chromatin silencing at rDNA GO:0000183 9.8 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
15 nucleosome assembly GO:0006334 9.5 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 10.16 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
2 RNA binding GO:0003723 10.03 SUPT16H H4C9 H4C8 H4C6 H4C5 H4C4
3 protein domain specific binding GO:0019904 9.8 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
4 protein heterodimerization activity GO:0046982 9.53 H4C9 H4C8 H4C6 H4C5 H4C4 H4C3
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
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
71 UMLS
72 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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