HHF4
MCID: HYP271
MIFTS: 48

Hyperinsulinemic Hypoglycemia, Familial, 4 (HHF4)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 4

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 4:

Name: Hyperinsulinemic Hypoglycemia, Familial, 4 56 29 13 6 39 71
Hyperinsulinism Due to Glutamodehydrogenase Deficiency 12 52 58
Familial Hyperinsulinemic Hypoglycemia 4 12 73 15
Hhf4 56 12 73
Hyperinsulinemic Hypoglycemia Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 12 58
Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 12 58
Hyperinsulinism Due to Schad Deficiency 12 58
Congenital Hyperinsulinism 73 71
Persistent Hyperinsulinemic Hypoglycemia of Infancy 73
Schad Deficiency 58
Phhi 73

Characteristics:

Orphanet epidemiological data:

58
hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

31
hyperinsulinemic hypoglycemia, familial, 4:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Hyperinsulinemic Hypoglycemia, Familial, 4

UniProtKB/Swiss-Prot : 73 Familial hyperinsulinemic hypoglycemia 4: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 4, also known as hyperinsulinism due to glutamodehydrogenase deficiency, is related to hyperinsulinemic hypoglycemia, familial, 1 and hyperinsulinemic hypoglycemia, familial, 2. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 4 is HADH (Hydroxyacyl-CoA Dehydrogenase). The drugs lanreotide and Angiopeptin have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and pancreas, and related phenotypes are decreased activity of 3-hydroxyacyl-coa dehydrogenase and neonatal hypotonia

Disease Ontology : 12 A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has material basis in mutation in the HADH gene on chromosome 4q25.

More information from OMIM: 609975 PS256450

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 4

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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 1 12.6
2 hyperinsulinemic hypoglycemia, familial, 2 12.4
3 hyperinsulinemic hypoglycemia, familial, 5 12.4
4 3-hydroxyacyl-coa dehydrogenase deficiency 12.1
5 hyperinsulinemic hypoglycemia, familial, 3 11.7
6 hyperinsulinemic hypoglycemia, familial, 6 11.5
7 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.3
8 hyperinsulinemic hypoglycemia 11.1
9 hypoglycemia 11.1
10 hyperinsulinism 10.8
11 autosomal recessive disease 10.5
12 hyperglycemia 10.4
13 carbonic anhydrase va deficiency, hyperammonemia due to 10.4
14 insulinoma 10.3
15 maturity-onset diabetes of the young 10.2
16 diabetes mellitus, noninsulin-dependent 10.2
17 paternal uniparental disomy 10.2
18 overgrowth syndrome 10.2
19 beckwith-wiedemann syndrome 10.2
20 ocular motor apraxia 10.2
21 gallbladder disease 1 10.2
22 diabetes mellitus, insulin-dependent, 11 10.2
23 abdominal obesity-metabolic syndrome 1 10.2
24 cyanosis, transient neonatal 10.2
25 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
26 glucose intolerance 10.2
27 hypertrichosis 10.2
28 adenoma 10.2
29 neuroblastoma 10.2
30 kabuki syndrome 1 10.2
31 acute insulin response 10.2
32 monogenic diabetes 10.2
33 atrial standstill 1 10.1
34 hemihyperplasia, isolated 10.1
35 alacrima, achalasia, and mental retardation syndrome 10.1
36 neonatal diabetes mellitus 10.1
37 cerebral palsy 10.1
38 hypertrophic cardiomyopathy 10.1
39 hypotonia 10.1
40 enterocolitis 10.0
41 insulin-like growth factor i 10.0
42 pulmonary hypertension 10.0
43 fanconi syndrome 10.0
44 exocrine pancreatic insufficiency 10.0
45 gonadal dysgenesis 10.0
46 glycogen storage disease 10.0
47 turner syndrome 10.0
48 hepatoblastoma 10.0
49 diabetes mellitus 10.0
50 hypopituitarism 10.0

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 4:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 4

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 4

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 4:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased activity of 3-hydroxyacyl-coa dehydrogenase 58 31 obligate (100%) Obligate (100%) HP:0100950
2 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
3 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
4 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
5 hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001397
6 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
7 confusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0001289
8 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000825
9 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
10 fasting hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008283
11 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
12 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
13 hypoglycemic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002173
14 proportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003508
15 increased circulating free fatty acid level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030781
16 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
17 increased c-peptide level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030796
18 dicarboxylic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003215
19 hypoglycemic encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006929
20 abnormal circulating acetylcarnitine concentration 31 hallmark (90%) HP:0012071
21 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
22 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
23 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
24 lactic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003128
25 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
26 hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001987
27 prolonged prothrombin time 58 31 occasional (7.5%) Occasional (29-5%) HP:0008151
28 pigmentary retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000580
29 decreased plasma carnitine 58 31 occasional (7.5%) Occasional (29-5%) HP:0003234
30 mildly elevated creatine kinase 31 occasional (7.5%) HP:0008180
31 hypertrophic cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001639
32 prolonged qt interval 58 31 very rare (1%) Very rare (<4-1%) HP:0001657
33 dilated cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001644
34 acute hepatic failure 58 31 very rare (1%) Very rare (<4-1%) HP:0006554
35 myoglobinuria 58 31 very rare (1%) Very rare (<4-1%) HP:0002913
36 hepatic necrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002605
37 intellectual disability 31 HP:0001249
38 mildly elevated creatine phosphokinase 58 Occasional (29-5%)
39 abnormality of acetylcarnitine metabolism 58 Very frequent (99-80%)
40 hypoglycemic coma 31 HP:0001325

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
hypoglycemia
hyperinsulinemia
elevated blood spot hydroxybutyryl carnitine

Neurologic Central Nervous System:
seizures, hypoglycemic
mental retardation due to repeated episodes of hypoglycemia
coma, hypoglycemic

Endocrine Features:
hyperinsulinemic hypoglycemia

Clinical features from OMIM:

609975

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 4

Drugs for Hyperinsulinemic Hypoglycemia, Familial, 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# 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 1994-09-7, 94-09-7 2337
9 pancreatin Phase 2
10 Anti-Obesity Agents Phase 1, Phase 2
11 Hypoglycemic Agents Phase 1, Phase 2
12 Antineoplastic Agents, Hormonal Phase 2
13 Plasma Substitutes Phase 1, Phase 2
14 lysine Phase 1, Phase 2
15 Radiopharmaceuticals Phase 1, Phase 2
16 Polygeline Phase 1, Phase 2
17 Blood Substitutes Phase 1, Phase 2
18 Hormone Antagonists Phase 2
19 Hormones Phase 2
20 Gastrointestinal Agents Phase 2
21 Incretins Phase 2
22 Glucagon-Like Peptide 1 Phase 1, Phase 2
23 Anesthetics, Local Phase 1, Phase 2
24 Anesthetics Phase 1, Phase 2
25 Central Nervous System Depressants Phase 1, Phase 2
26
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
27
Octreotide Approved, Investigational Phase 1 83150-76-9 383414 6400441
28
Somatostatin Approved, Investigational Phase 1 51110-01-1, 38916-34-6 53481605
29
Levodopa Approved Phase 1 59-92-7 6047
30
Lactitol Investigational Phase 1 585-86-4, 585-88-6 493591
31 Cardiac Glycosides Phase 1
32 Glycoside Hydrolase Inhibitors Phase 1
33 insulin Phase 1
34 Insulin, Globin Zinc Phase 1
35
Insulin aspart Approved 116094-23-6 16132418
36
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
37
Dopamine Approved 51-61-6, 62-31-7 681
38
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
39 Tocotrienol Investigational 6829-55-6
40 Micronutrients
41 Trace Elements
42 Tocopherols
43 Nutrients
44 Antioxidants
45 Tocotrienols
46 Protective Agents
47 Vitamins
48 Neurotransmitter Agents
49 Dopamine Agents
50 Dihydroxyphenylalanine

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 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
8 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
9 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
10 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
11 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)
12 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
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 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, 4

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 4

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 4:

# Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia, Familial, 4 29 HADH

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 4

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 4:

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

Publications for Hyperinsulinemic Hypoglycemia, Familial, 4

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 4:

(show top 50) (show all 538)
# Title Authors PMID Year
1
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. 61 56 6
14693719 2004
2
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. 56 6
23273570 2013
3
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. 56 6
21252247 2011
4
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. 56 6
11489939 2001
5
Glucagon deficiency causing severe neonatal hypoglycemia in a patient with normal insulin secretion. 56 6
904979 1977
6
Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene. 61 6
19318379 2009
7
Familial Hyperinsulinism 6
20301549 2003
8
Hunting for a hypoglycemia gene: severe neonatal hypoglycemia in a consanguineous family. 56
12400064 2002
9
Update of variants identified in the pancreatic beta-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. 61
32027066 2020
10
Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures. 61
31821855 2020
11
Targeted optical imaging of the glucagon-like peptide 1 receptor using exendin-4-IRDye800CW. 61
31924726 2020
12
PET-Based Human Dosimetry of 68Ga-NODAGA-Exendin-4, a Tracer for β-Cell Imaging. 61
31519801 2020
13
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389. 61
32027664 2020
14
Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia. 61
31586326 2020
15
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center. 61
31997554 2020
16
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism. 61
30797057 2020
17
Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature. 61
31840185 2020
18
Congenital hyperinsulinism: management and outcome, a single tertiary centre experience. 61
32002613 2020
19
Congenital hyperinsulinism associated with Hirschsprung's disease-a report of an extremely rare case. 61
31916119 2020
20
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism. 61
31577849 2020
21
Complexities in the medical management of hypoglycaemia due to congenital hyperinsulinism. 61
31917867 2020
22
Congenital hyperinsulinism disorders: Genetic and clinical characteristics. 61
31414570 2019
23
Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism. 61
31777044 2019
24
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China 61
31208162 2019
25
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. 61
31147633 2019
26
Nationwide survey of endogenous hyperinsulinemic hypoglycemia in Japan (2017-2018): Congenital hyperinsulinism, insulinoma, non-insulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata's disease). 61
31742894 2019
27
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping. 61
31464105 2019
28
Clinical and enzymatic phenotypes in congenital hyperinsulinemic hypoglycemia due to glucokinase-activating mutations: A report of two cases and a brief overview of the literature. 61
31094068 2019
29
Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1. 61
31119523 2019
30
A Newborn with Congenital Hyperinsulinism. 61
31002010 2019
31
Surgical management of medically-refractory hyperinsulinism. 61
31757439 2019
32
Novel Preparations of Glucagon for the Prevention and Treatment of Hypoglycemia. 61
31493043 2019
33
Thrombocytopaenia: a serious side effect of diazoxide. 61
31511269 2019
34
Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning. 61
31218401 2019
35
Clinical characteristics and phenotype-genotype review of 25 Omani children with congenital hyperinsulinism in infancy. A one-decade single-center experience. 61
31287126 2019
36
Mechanism of pharmacochaperoning in a mammalian KATP channel revealed by cryo-EM. 61
31343405 2019
37
Central venous catheter-associated thrombosis in children with congenital hyperinsulinism 61
31373474 2019
38
Current and Emerging Agents for the Treatment of Hypoglycemia in Patients with Congenital Hyperinsulinism. 61
31218604 2019
39
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature. 61
31124053 2019
40
Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study. 61
30882046 2019
41
Indications and outcomes of duodenum-preserving resection of the pancreatic head in children. 61
30386905 2019
42
The effect of hypoglycaemia on neurocognitive outcome in children and adolescents with transient or persistent congenital hyperinsulinism. 61
30246438 2019
43
ATP binding without hydrolysis switches sulfonylurea receptor 1 (SUR1) to outward-facing conformations that activate KATP channels. 61
30587573 2019
44
Spacial models of malfunctioned protein complexes help to elucidate signal transduction critical for insulin release. 61
30395892 2019
45
Molecular and cellular regulation of human glucokinase. 61
30641049 2019
46
A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8. 61
30730840 2019
47
News: FDA Reviews NDA for 18F-FDOPA in Congenital Hyperinsulinism. 61
30824673 2019
48
Hepatoblastoma and Wilms' tumour in an infant with Beckwith-Wiedemann syndrome and diazoxide resistant congenital hyperinsulinism. 61
30817313 2019
49
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation 61
29739729 2019
50
Correction: Increased proliferation and altered cell cycle regulation in pancreatic stem cells derived from patients with congenital hyperinsulinism. 61
31600346 2019

Variations for Hyperinsulinemic Hypoglycemia, Familial, 4

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 4:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HADH NM_005327.5(HADH):c.773C>T (p.Pro258Leu)SNV Pathogenic 8020 rs137853103 4:108954395-108954395 4:108033239-108033239
2 HADH HADH, 6-BP DELdeletion Pathogenic 8021
3 HADH NM_005327.5(HADH):c.706C>T (p.Arg236Ter)SNV Pathogenic 39482 rs375717077 4:108948913-108948913 4:108027757-108027757
4 HADH HADH, EX1DELdeletion Pathogenic 39483
5 HADH NM_005327.5(HADH):c.636+471G>TSNV Pathogenic 39484 rs786200932 4:108945190-108945190 4:108024034-108024034
6 HADH NM_005327.5(HADH):c.662G>A (p.Arg221His)SNV Conflicting interpretations of pathogenicity 393392 rs76476980 4:108948869-108948869 4:108027713-108027713
7 HADH NM_005327.5(HADH):c.643C>A (p.Pro215Thr)SNV Conflicting interpretations of pathogenicity 549514 rs140413151 4:108948850-108948850 4:108027694-108027694
8 HADH NM_005327.5(HADH):c.456G>T (p.Gln152His)SNV Conflicting interpretations of pathogenicity 211127 rs1051519 4:108940732-108940732 4:108019576-108019576

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 4:

73
# Symbol AA change Variation ID SNP ID
1 HADH p.Pro258Leu VAR_024081 rs137853103

Expression for Hyperinsulinemic Hypoglycemia, Familial, 4

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 4.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 4

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 4

Molecular functions related to Hyperinsulinemic Hypoglycemia, Familial, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 8.62 ELAVL4 ELAVL2

Sources for Hyperinsulinemic Hypoglycemia, Familial, 4

3 CDC
7 CNVD
9 Cosmic
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11 DGIdb
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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