HHF4
MCID: HYP271
MIFTS: 50

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, 3 and hyperinsulinemic hypoglycemia, familial, 1. 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, pancreas and testes, and related phenotypes are decreased 3-hydroxyacyl-coa dehydrogenase level 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 124)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 3 32.4 CEP55 AURKB
2 hyperinsulinemic hypoglycemia, familial, 1 12.6
3 hyperinsulinemic hypoglycemia, familial, 2 12.4
4 hyperinsulinemic hypoglycemia, familial, 5 12.4
5 3-hydroxyacyl-coa dehydrogenase deficiency 12.2
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 10.7
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 10.3
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 hypotonia 10.2
34 atrial standstill 1 10.1
35 hemihyperplasia, isolated 10.1
36 alacrima, achalasia, and mental retardation syndrome 10.1
37 neonatal diabetes mellitus 10.1
38 hypertrophic cardiomyopathy 10.1
39 cerebral palsy 10.1
40 enterocolitis 10.0
41 insulin-like growth factor i 10.0
42 fanconi renotubular syndrome 2 10.0
43 helix syndrome 10.0
44 pulmonary hypertension 10.0
45 fanconi syndrome 10.0
46 exocrine pancreatic insufficiency 10.0
47 gonadal dysgenesis 10.0
48 glycogen storage disease 10.0
49 turner syndrome 10.0
50 hepatoblastoma 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:

31 58 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased 3-hydroxyacyl-coa dehydrogenase level 31 obligate (100%) HP:0100950
2 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
3 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
4 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
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 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
8 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
9 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
10 confusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0001289
11 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000825
12 proportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003508
13 fasting hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008283
14 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
15 hypoglycemic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002173
16 increased circulating free fatty acid level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030781
17 dicarboxylic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003215
18 hypoglycemic encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006929
19 increased c-peptide level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030796
20 abnormal circulating acetylcarnitine concentration 31 hallmark (90%) HP:0012071
21 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
22 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
23 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
24 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
25 hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001987
26 prolonged prothrombin time 58 31 occasional (7.5%) Occasional (29-5%) HP:0008151
27 lactic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003128
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 hepatic necrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002605
36 myoglobinuria 58 31 very rare (1%) Very rare (<4-1%) HP:0002913
37 intellectual disability 31 HP:0001249
38 mildly elevated creatine phosphokinase 58 Occasional (29-5%)
39 hypoglycemic coma 31 HP:0001325
40 decreased activity of 3-hydroxyacyl-coa dehydrogenase 58 Obligate (100%)
41 abnormality of acetylcarnitine metabolism 58 Very frequent (99-80%)

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

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Treatment With Lanreotide Autogel (Somatostatin Analogue) in Patients With Congenital Hyperinsulinism of Infancy Already Treated With Somatostatin Analog by Pump Unknown status NCT01070758 Phase 4 Lanreotide autogel
2 A Two-Period, Open-label Trial Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Recruiting NCT03777176 Phase 3 dasiglucagon
3 A Randomized Trial in 2 Parts: Double-Blind, Placebo-Controlled, Crossover Part 1 and Open-label Part 2, Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Recruiting NCT04172441 Phase 2, Phase 3 dasiglucagon;Placebo
4 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
5 An Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Enrolling by invitation NCT03941236 Phase 3 dasiglucagon
6 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
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 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
9 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
10 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)
11 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
12 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
13 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
14 A Phase 2, Interventional, Randomized, Double-Blind, Placebo-Controlled Pilot Study of Glucagon RTU in Subjects Who Experience Hyperinsulinemic Hypoglycemia After Bariatric Surgery Completed NCT03770637 Phase 2 Glucagon RTU
15 Effect of Gelofusine on 111In-DTPA-AHX-Lys40-Exendin 4 Uptake in the Kidney Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
16 Role of Glucagon-Like Peptide-1 (GLP-1) in Congenital Hyperinsulinism: Effect of Exendin (9-39) on Glucose Requirements to Maintain Euglycemia Terminated NCT00835328 Phase 1, Phase 2 Exendin (9-39);Vehicle
17 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
18 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
19 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
20 18F-Fluoro-L- DOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism Recruiting NCT04205604 Phase 1
21 The Use of Fluorodopa F 18 Positron Emission Tomography Combined With Computed Tomography in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
22 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
23 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
24 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
25 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541
26 Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Children With Congenital Hyperinsulinism - A Pilot Study Completed NCT03303196
27 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
28 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Recruiting NCT03768518
29 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Recruiting NCT03930368
30 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Active, not recruiting NCT03797222
31 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
32 Expanded Access Use of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
33 Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA
34 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery, Part 1 C: Effect of Postprandial Hypoglycaemia on Driving Performance. Not yet recruiting NCT04330196
35 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery Part 1 B: Evaluation of the Neuro-endocrine Response to Hypoglycaemia. Not yet recruiting NCT04334161

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 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, Pancreas, Testes, Kidney, Spleen, B Cells, Pancreatic Islet

Publications for Hyperinsulinemic Hypoglycemia, Familial, 4

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 4:

(show top 50) (show all 560)
# Title Authors PMID Year
1
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. 61 6 56
14693719 2004
2
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. 6 56
23273570 2013
3
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. 6 56
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. 6 61
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
A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia. 61
32336187 2020
10
18-F-L 3,4-Dihydroxyphenylalanine PET/Computed Tomography in the Management of Congenital Hyperinsulinism. 61
32498990 2020
11
Detection of Insulinomas Using Dual-Time-Point 68Ga-DOTA-Exendin 4 PET/CT. 61
32453080 2020
12
Multiplexing DNA methylation markers to detect circulating cell-free DNA derived from human pancreatic beta-cells. 61
32573495 2020
13
Surgical management of medically-refractory hyperinsulinism. 61
31757439 2020
14
Rare causes of hypoglycemia in adults. 61
32409005 2020
15
Sirolimus therapy and follow-up in a patient with severe congenital hyperinsulinism following subtotal pancreatectomy. 61
32482020 2020
16
Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism. 61
31777044 2020
17
Surgical treatment of congenital hyperinsulinism. 61
32571515 2020
18
Congenital hyperinsulinism: management and outcome, a single tertiary centre experience. 61
32002613 2020
19
Congenital hyperinsulinism due to mutations in HNF1A. 61
32325224 2020
20
Spontaneous Resolution of Congenital Hyperinsulinism With Octreotide Therapy. 61
32444525 2020
21
Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy. 61
32267248 2020
22
Complexities in the medical management of hypoglycaemia due to congenital hyperinsulinism. 61
31917867 2020
23
The role of 18F-DOPA PET/CT in the diagnosis of the congenital focal form of hyperinsulinism in children. 61
32448747 2020
24
Receptor-targeted photodynamic therapy of glucagon-like peptide 1 receptor positive lesions. 61
32385165 2020
25
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center. 61
31997554 2020
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 2020
27
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. 61
32027066 2020
28
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism. 61
32170320 2020
29
Rare association of Beckwith-Wiedemann syndrome with Hirschsprung's disease in an infant with hypoglycemia. 61
32341092 2020
30
Congenital Hyperinsulinism Caused by Novel Homozygous KATP Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families. 61
32203961 2020
31
Somatostatin Analogs in Clinical Practice: a Review. 61
32121432 2020
32
Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures. 61
31821855 2020
33
Necrotising enterocolitis in a newborn infant treated with octreotide for chylous effusion: is octreotide safe? 61
32051156 2020
34
Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature. 61
31840185 2020
35
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism. 61
30797057 2020
36
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism. 61
31577849 2020
37
Congenital hyperinsulinism associated with Hirschsprung's disease-a report of an extremely rare case. 61
31916119 2020
38
Congenital hyperinsulinism: characterization of patients treated in a pediatric university hospital in Colombia. 61
32226004 2020
39
Delayed Resolution of Feeding Problems in Patients With Congenital Hyperinsulinism. 61
32256453 2020
40
Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia. 61
31586326 2020
41
Congenital hyperinsulinsim: case report and review of literature. 61
32537058 2020
42
Targeted optical imaging of the glucagon-like peptide 1 receptor using exendin-4-IRDye800CW. 61
31924726 2020
43
PET-Based Human Dosimetry of 68Ga-NODAGA-Exendin-4, a Tracer for β-Cell Imaging. 61
31519801 2020
44
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
45
Congenital hyperinsulinism disorders: Genetic and clinical characteristics. 61
31414570 2019
46
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China 61
31208162 2019
47
[Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism]. 61
32202736 2019
48
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. 61
31147633 2019
49
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping. 61
31464105 2019
50
Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1. 61
31119523 2019

Variations for Hyperinsulinemic Hypoglycemia, Familial, 4

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

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.275T>G (p.Phe92Cys)SNV Conflicting interpretations of pathogenicity 211126 rs61735992 4:108935600-108935600 4:108014444-108014444
7 HADH NM_005327.5(HADH):c.456G>T (p.Gln152His)SNV Conflicting interpretations of pathogenicity 211127 rs1051519 4:108940732-108940732 4:108019576-108019576
8 HADH NM_001184705.2(HADH):c.-102G>ASNV Conflicting interpretations of pathogenicity 347125 rs182097151 4:108910987-108910987 4:107989831-107989831
9 HADH NM_005327.5(HADH):c.662G>A (p.Arg221His)SNV Conflicting interpretations of pathogenicity 393392 rs76476980 4:108948869-108948869 4:108027713-108027713
10 HADH NM_005327.5(HADH):c.643C>A (p.Pro215Thr)SNV Conflicting interpretations of pathogenicity 549514 rs140413151 4:108948850-108948850 4:108027694-108027694
11 HADH NM_005327.7(HADH):c.*168A>TSNV Conflicting interpretations of pathogenicity 903081 4:108955681-108955681 4:108034525-108034525
12 HADH NM_005327.7(HADH):c.*383G>CSNV Conflicting interpretations of pathogenicity 900589 4:108955896-108955896 4:108034740-108034740
13 HADH NM_005327.7(HADH):c.*514A>GSNV Conflicting interpretations of pathogenicity 900590 4:108956027-108956027 4:108034871-108034871
14 HADH NM_005327.7(HADH):c.133-15C>TSNV Conflicting interpretations of pathogenicity 902148 4:108930900-108930900 4:108009744-108009744
15 HADH NM_005327.7(HADH):c.710-14C>TSNV Uncertain significance 900536 4:108954318-108954318 4:108033162-108033162
16 HADH NM_005327.7(HADH):c.132+6C>GSNV Uncertain significance 902147 4:108911226-108911226 4:107990070-107990070
17 HADH NM_005327.7(HADH):c.*279C>ASNV Uncertain significance 899454 4:108955792-108955792 4:108034636-108034636
18 HADH NM_005327.7(HADH):c.*335C>ASNV Uncertain significance 899455 4:108955848-108955848 4:108034692-108034692
19 HADH NM_005327.7(HADH):c.*377G>ASNV Uncertain significance 899456 4:108955890-108955890 4:108034734-108034734
20 HADH NM_005327.5(HADH):c.349G>C (p.Val117Leu)SNV Uncertain significance 652881 4:108935674-108935674 4:108014518-108014518
21 HADH NC_000004.12:g.107989730A>GSNV Uncertain significance 902091 4:108910886-108910886 4:107989730-107989730
22 HADH NC_000004.12:g.107989847G>TSNV Uncertain significance 902970 4:108911003-108911003 4:107989847-107989847
23 HADH NC_000004.12:g.107989877C>ASNV Uncertain significance 900414 4:108911033-108911033 4:107989877-107989877
24 HADH NM_005327.7(HADH):c.-34C>TSNV Uncertain significance 900482 4:108911055-108911055 4:107989899-107989899
25 HADH NM_005327.7(HADH):c.159A>G (p.Val53=)SNV Uncertain significance 902149 4:108930941-108930941 4:108009785-108009785
26 HADH NM_005327.7(HADH):c.264C>T (p.Ala88=)SNV Uncertain significance 903028 4:108935589-108935589 4:108014433-108014433
27 HADH NM_005327.7(HADH):c.688G>A (p.Ala230Thr)SNV Uncertain significance 900535 4:108948895-108948895 4:108027739-108027739
28 HADH NM_005327.7(HADH):c.809C>T (p.Thr270Met)SNV Uncertain significance 902197 4:108954431-108954431 4:108033275-108033275
29 HADH NM_005327.7(HADH):c.823G>A (p.Asp275Asn)SNV Uncertain significance 902198 4:108954445-108954445 4:108033289-108033289
30 HADH NM_005327.7(HADH):c.825T>G (p.Asp275Glu)SNV Uncertain significance 902199 4:108954447-108954447 4:108033291-108033291
31 HADH NM_005327.7(HADH):c.*142G>ASNV Uncertain significance 903080 4:108955655-108955655 4:108034499-108034499
32 HADH NM_005327.5(HADH):c.-36C>TSNV Uncertain significance 347130 rs746854470 4:108911053-108911053 4:107989897-107989897
33 HADH NM_005327.5(HADH):c.*600C>TSNV Uncertain significance 347139 rs544321475 4:108956113-108956113 4:108034957-108034957
34 HADH NM_005327.5(HADH):c.21G>A (p.Gln7=)SNV Uncertain significance 347131 rs886058980 4:108911109-108911109 4:107989953-107989953
35 HADH NM_005327.5(HADH):c.240G>A (p.Lys80=)SNV Uncertain significance 347133 rs748623569 4:108931022-108931022 4:108009866-108009866
36 HADH NM_005327.5(HADH):c.*305T>ASNV Uncertain significance 347138 rs3822294 4:108955818-108955818 4:108034662-108034662
37 HADH NM_005327.5(HADH):c.132+7G>TSNV Uncertain significance 211125 rs534966818 4:108911227-108911227 4:107990071-107990071
38 HADH NM_001184705.2(HADH):c.-195A>GSNV Uncertain significance 347122 rs886058979 4:108910894-108910894 4:107989738-107989738
39 HADH NM_005327.5(HADH):c.72G>A (p.Lys24=)SNV Uncertain significance 347132 rs781319494 4:108911160-108911160 4:107990004-107990004
40 HADH NM_005327.5(HADH):c.889G>A (p.Val297Ile)SNV Uncertain significance 347135 rs376876153 4:108955457-108955457 4:108034301-108034301
41 HADH NM_005327.5(HADH):c.*59G>ASNV Uncertain significance 347136 rs529762487 4:108955572-108955572 4:108034416-108034416
42 HADH NM_001184705.2(HADH):c.-195A>CSNV Uncertain significance 347121 rs886058979 4:108910894-108910894 4:107989738-107989738
43 HADH NM_001184705.2(HADH):c.-65G>ASNV Benign/Likely benign 347127 rs28703310 4:108911024-108911024 4:107989868-107989868
44 HADH NM_005327.5(HADH):c.636+13G>ASNV Benign/Likely benign 257611 rs17511214 4:108944732-108944732 4:108023576-108023576
45 HADH NM_001184705.2(HADH):c.-193G>ASNV Benign/Likely benign 347123 rs10017687 4:108910896-108910896 4:107989740-107989740
46 HADH NM_001331027.1(HADH):c.*818A>GSNV Benign/Likely benign 347141 rs17511319 4:108956331-108956331 4:108035175-108035175
47 HADH NM_005327.5(HADH):c.*109T>ASNV Benign 347137 rs221347 4:108955622-108955622 4:108034466-108034466
48 HADH NM_001184705.2(HADH):c.-71C>TSNV Benign 347126 rs760202 4:108911018-108911018 4:107989862-107989862
49 HADH NM_005327.5(HADH):c.-38T>CSNV Benign 347129 rs17550794 4:108911051-108911051 4:107989895-107989895

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

Cellular components related to Hyperinsulinemic Hypoglycemia, Familial, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 8.8 TMEM97 SCAI HOXA7

Sources for Hyperinsulinemic Hypoglycemia, Familial, 4

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
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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
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56 OMIM
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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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