HHF5
MCID: HYP326
MIFTS: 51

Hyperinsulinemic Hypoglycemia, Familial, 5 (HHF5)

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 5

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 5:

Name: Hyperinsulinemic Hypoglycemia, Familial, 5 57 13 71
Familial Hyperinsulinemic Hypoglycemia 5 12 73 15
Hyperinsulinemic Hypoglycemia Familial 5 29 6 39
Hhf5 57 12 73
Hyperinsulinemic Hypoglycemia Due to Insulin Receptor Deficiency 12 58
Hyperinsulinemic Hypoglycemia Due to Insr Deficiency 12 58
Hyperinsulinism Due to Insr Deficiency 12 58
Congenital Hyperinsulinism 73 71
Persistent Hyperinsulinemic Hypoglycemia of Infancy 73
Phhi 73

Characteristics:

Orphanet epidemiological data:

58
hyperinsulinism due to insr deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

31
hyperinsulinemic hypoglycemia, familial, 5:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0070220
OMIM® 57 609968
OMIM Phenotypic Series 57 PS256450
ICD10 via Orphanet 33 E16.1
Orphanet 58 ORPHA263458
MedGen 41 C1864952
UMLS 71 C1864952 C3888018

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 5

UniProtKB/Swiss-Prot : 73 Familial hyperinsulinemic hypoglycemia 5: Familial hyperinsulinemic hypoglycemia [MIM:256450], 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.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 5, also known as familial hyperinsulinemic hypoglycemia 5, is related to hyperinsulinemic hypoglycemia, familial, 2 and hyperinsulinemic hypoglycemia, familial, 1. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 5 is INSR (Insulin Receptor), and among its related pathways/superpathways are Signaling by GPCR and Activation of cAMP-Dependent PKA. The drugs lanreotide and Angiopeptin have been mentioned in the context of this disorder. Affiliated tissues include pancreas, brain and kidney, and related phenotypes are hyperinsulinemic hypoglycemia and recurrent hypoglycemia

Disease Ontology : 12 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has material basis in mutation in the INSR gene on chromosome 19p13.

More information from OMIM: 609968 PS256450

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 5

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

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 2 11.9
2 hyperinsulinemic hypoglycemia, familial, 1 11.9
3 hyperinsulinemic hypoglycemia, familial, 4 11.5
4 hyperinsulinemic hypoglycemia, familial, 3 11.5
5 hyperinsulinemic hypoglycemia, familial, 6 11.3
6 hyperinsulinemic hypoglycemia 11.1
7 hypoglycemia 11.1
8 hyperinsulinism 10.8
9 autosomal recessive disease 10.5
10 carbonic anhydrase va deficiency, hyperammonemia due to 10.3
11 insulinoma 10.3
12 hyperglycemia 10.3
13 maturity-onset diabetes of the young 10.3
14 neonatal diabetes 10.3
15 beckwith-wiedemann syndrome 10.2
16 ocular motor apraxia 10.2
17 gallbladder disease 1 10.2
18 abdominal obesity-metabolic syndrome 1 10.2
19 cyanosis, transient neonatal 10.2
20 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
21 glucose intolerance 10.2
22 hypertrichosis 10.2
23 adenoma 10.2
24 neuroblastoma 10.2
25 paternal uniparental disomy 10.2
26 overgrowth syndrome 10.2
27 atrial standstill 1 10.1
28 kabuki syndrome 1 10.1
29 acute insulin response 10.1
30 alacrima, achalasia, and mental retardation syndrome 10.1
31 diabetes mellitus 10.1
32 monogenic diabetes 10.1
33 hypotonia 10.1
34 type 1 diabetes mellitus 10.1
35 hemihyperplasia, isolated 10.1
36 hypertrophic cardiomyopathy 10.1
37 exocrine pancreatic insufficiency 10.1
38 cerebral palsy 10.1
39 seizure disorder 10.1
40 maturity-onset diabetes of the young, type 1 10.0
41 enterocolitis 10.0
42 insulin-like growth factor i 10.0
43 helix syndrome 10.0
44 pulmonary hypertension 10.0
45 b-lymphoblastic leukemia/lymphoma 10.0
46 fanconi syndrome 10.0
47 gestational diabetes 10.0
48 gonadal dysgenesis 10.0
49 thrombocytopenia 10.0
50 glycogen storage disease 10.0

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 5:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 5

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 5

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 5:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperinsulinemic hypoglycemia 58 31 obligate (100%) Obligate (100%) HP:0000825
2 recurrent hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001988
3 fasting hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008283
4 abnormal c-peptide level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030794
5 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
6 seizure 31 frequent (33%) HP:0001250
7 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
8 insulin resistance 58 31 occasional (7.5%) Occasional (29-5%) HP:0000855
9 seizures 58 Frequent (79-30%)
10 hypoglycemia 58 Very frequent (99-80%)
11 hypoglycemic coma 31 HP:0001325
12 hypoglycemic seizures 31 HP:0002173

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Endocrine Features:
hyperinsulinemic hypoglycemia

Laboratory Abnormalities:
hypoglycemia, postprandial
hyperinsulinemia, fasting
elevated serum insulin-to-c-peptide ratio

Neurologic Central Nervous System:
seizures, hypoglycemic
loss of consciousness due to hypoglycemia

Clinical features from OMIM®:

609968 (Updated 05-Mar-2021)

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 5

Drugs for Hyperinsulinemic Hypoglycemia, Familial, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Treatment With Lanreotide Autogel (Somatostatin Analogue) in Patients With Congenital Hyperinsulinism of Infancy Already Treated With Somatostatin Analog by Pump Unknown status NCT01070758 Phase 4 Lanreotide autogel
2 A Two-Period, Open-label Trial Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Completed NCT03777176 Phase 3 dasiglucagon
3 A Randomized Trial in 2 Parts: Double-Blind, Placebo-Controlled, Crossover Part 1 and Open-label Part 2, Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Recruiting NCT04172441 Phase 2, Phase 3 dasiglucagon;Placebo
4 18F-DOPA II - PET Imaging Optimization Recruiting NCT04706910 Phase 3 18F-DOPA;Furosemide Injection
5 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Active, not recruiting NCT03042416 Phase 3 18F-DOPA
6 An Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Enrolling by invitation NCT03941236 Phase 3 dasiglucagon
7 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)
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 A Phase 2 Proof-of-Concept Study of CSI-Glucagon™ (Continuous Subcutaneous Glucagon Infusion) to Prevent Hypoglycemia With Lower Intravenous Glucose Infusion Rates in Children up to One Year of Age With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
10 A Phase II Safety and Efficacy Study of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
11 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
12 Role of GLP-1 in Congenital Hyperinsulinism:Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
13 Replace Sandostatine® in Three Daily Subcutaneous Injections by a Single Intramuscular Injection of Sandostatine® LP Per Month in Patients With a Diffuse Form of Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
14 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
15 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
16 18F-Fluoro-L- DOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism Recruiting NCT04205604 Phase 2 18F-Fluoro Dopa Imaging
17 An Open-Label Multiple-Dose Study of RZ358 in Patients With Congenital Hyperinsulinism Recruiting NCT04538989 Phase 2 RZ358 Sequential Group Cohort 1;RZ358 Sequential Group Cohort 2;RZ358 Sequential Group Cohort 3;RZ358 Sequential Group Cohort 4
18 A Phase 2, Multiple Ascending Dose, Open-label, Proof-of-concept Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of HM15136 Treatment for 8 Weeks in Subjects Aged ≥2 Years With Congenital Hyperinsulinism (CHI) Not yet recruiting NCT04732416 Phase 2 HM15136
19 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
20 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
21 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
22 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
23 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
24 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
25 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
26 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Unknown status NCT03768518
27 Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Children With Congenital Hyperinsulinism - A Pilot Study Completed NCT03303196
28 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
29 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
30 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541
31 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery Part 1 B: Evaluation of the Neuro-endocrine Response to Hypoglycaemia. Recruiting NCT04334161
32 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery, Part 1 C: Effect of Postprandial Hypoglycaemia on Driving Performance. Recruiting NCT04330196
33 Role of Nutrient Transit and Incretin Hormones in Hyperinsulinemic Hypoglycemia Recruiting NCT04615546
34 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Recruiting NCT03930368
35 Canagliflozin: a New Therapeutic Option in Patients That Present Postprandial Hyperinsulinemic Hypoglycemia After Roux-en-Y-gastric By-pass Recruiting NCT04720859 Canagliflozin 300 MG Oral Tablet
36 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
37 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
38 Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia No longer available NCT02533219 18 F-DOPA

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 5

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 5

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 5:

# Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia Familial 5 29 INSR

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 5

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 5:

40
Pancreas, Brain, Kidney, Spleen, Pituitary

Publications for Hyperinsulinemic Hypoglycemia, Familial, 5

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 5:

(show top 50) (show all 597)
# Title Authors PMID Year
1
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. 6 57
15161766 2004
2
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 6
27896077 2014
3
Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 6
8288049 1994
4
SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism. 61
33404684 2021
5
Biphasic dynamics of beta cell mass in a mouse model of congenital hyperinsulinism: implications for type 2 diabetes. 61
33558985 2021
6
Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience. 61
33528087 2021
7
Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation. 61
33595839 2021
8
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease. 61
33490854 2021
9
Long-term outcome and treatment in persistent and transient congenital hyperinsulinism: a Finnish population-based study. 61
33475139 2021
10
Gut Microbiome Profile After Pancreatectomy in Infants With Congenital Hyperinsulinism. 61
33370028 2021
11
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism. 61
33410562 2021
12
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro. 61
32876354 2021
13
Open-Source Technology for Real-Time Continuous Glucose Monitoring in the Neonatal Intensive Care Unit: Case Study in a Neonate With Transient Congenital Hyperinsulinism. 61
33275114 2020
14
A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia. 61
32336187 2020
15
Receptor-Targeted Photodynamic Therapy of Glucagon-Like Peptide 1 Receptor-Positive Lesions. 61
32385165 2020
16
Aberrant methylation underlies insulin gene expression in human insulinoma. 61
33060578 2020
17
Long-term Follow-up of Patients with Congenital Hyperinsulinism in Austria. 61
33600688 2020
18
[The use of long-acting somatostatin analogs in congenital hyperinsulinism]. 61
33369374 2020
19
[Congenital hyperinsulinism in Gran Canaria, Canary Isles]. 61
33082084 2020
20
Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother. 61
33031054 2020
21
Suspected congenital hyperinsulinism in a Shiba Inu dog. 61
32592436 2020
22
[Continuous subcutaneous infusion of somatostatin analogues in the treatment of congenital hyperinsulinism]. 61
33351342 2020
23
Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience. 61
32928245 2020
24
The role of 18F-DOPA PET/CT in the diagnosis of the congenital focal form of hyperinsulinism in children. 61
32448747 2020
25
Challenges of managing congenital hyperinsulinism in remote Aboriginal Australian communities. 61
32808382 2020
26
[Congenital hyperinsulinism in three patients from the same family. Expanding the genotype of this disease]. 61
32819847 2020
27
Focal form of congenital hyperinsulinism in a newborn diagnosed with 18F-DOPA PET/CT allows laparoscopic surgical approach. 61
32800749 2020
28
A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome 61
32830475 2020
29
Congenital Hyperinsulinism: Two case reports with different rare variants in ABCC8. 61
32871644 2020
30
Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia. 61
32841164 2020
31
Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism. 61
32695361 2020
32
Octreotide-related exocrine pancreatic insufficiency (EPI) in congenital hyperinsulinism. 61
32634108 2020
33
18-F-L 3,4-Dihydroxyphenylalanine PET/Computed Tomography in the Management of Congenital Hyperinsulinism. 61
32498990 2020
34
Persistent Hypoglycemia in Seven-year-old Saudi Child: A Case Report. 61
32802414 2020
35
Multiplexing DNA methylation markers to detect circulating cell-free DNA derived from human pancreatic β cells. 61
32573495 2020
36
Detection of Insulinomas Using Dual-Time-Point 68Ga-DOTA-Exendin 4 PET/CT. 61
32453080 2020
37
Cardiopulmonary Bypass for a Patient With Congenital Hyperinsulinemia. 61
29334830 2020
38
Targeted Optical Imaging of the Glucagonlike Peptide 1 Receptor Using Exendin-4-IRDye 800CW. 61
31924726 2020
39
Meeting Report: Updates in Diagnosis and Management of Hyperinsulinism and Neonatal Hypoglycemia: Highlights from the Fourth International Hyperinsulinism Symposium. 61
32741158 2020
40
Surgical management of medically-refractory hyperinsulinism. 61
31757439 2020
41
Rare causes of hypoglycemia in adults. 61
32409005 2020
42
Sirolimus therapy and follow-up in a patient with severe congenital hyperinsulinism following subtotal pancreatectomy. 61
32482020 2020
43
Surgical treatment of congenital hyperinsulinism. 61
32571515 2020
44
Congenital hyperinsulinism: management and outcome, a single tertiary centre experience. 61
32002613 2020
45
Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism. 61
31777044 2020
46
Congenital hyperinsulinism due to mutations in HNF1A. 61
32325224 2020
47
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
48
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
49
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center. 61
31997554 2020
50
Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy. 61
32267248 2020

Variations for Hyperinsulinemic Hypoglycemia, Familial, 5

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INSR NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) SNV Pathogenic 14708 rs121913156 19:7120688-7120688 19:7120677-7120677
2 INSR NM_000208.4(INSR):c.1610+2T>C SNV Pathogenic 211189 rs797045624 19:7167977-7167977 19:7167966-7167966
3 INSR NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) SNV Uncertain significance 435517 rs369102740 19:7119479-7119479 19:7119468-7119468
4 INSR NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) SNV Uncertain significance 549552 rs78433961 19:7142981-7142981 19:7142970-7142970
5 INSR NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) SNV Uncertain significance 282255 rs76077021 19:7141705-7141705 19:7141694-7141694
6 INSR NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) SNV Uncertain significance 502299 rs777565396 19:7142871-7142871 19:7142860-7142860

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 5:

73
# Symbol AA change Variation ID SNP ID
1 INSR p.Arg1201Gln VAR_015929 rs121913156

Expression for Hyperinsulinemic Hypoglycemia, Familial, 5

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 5.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 5

Pathways related to Hyperinsulinemic Hypoglycemia, Familial, 5 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 YWHAB PTPN3 INSR GNAI2 GNA14 CXCL6
2
Show member pathways
13.11 YWHAB PTPN3 INSR GNAI2 GNA14
3
Show member pathways
12.87 YWHAB INSR GNAI2 GNA14 CXCL6
4
Show member pathways
12.59 YWHAB INSR GNAI2 GNA14
5
Show member pathways
12.56 INSR GNAI2 GNA14
6
Show member pathways
12.2 YWHAB INSR GNAI2 GNA14
7
Show member pathways
12.17 YWHAB GNAI2 GNA14
8
Show member pathways
11.67 INSR GNAI2 GNA14
9
Show member pathways
11.62 YWHAB INSR GNAI2 GNA14
10 11.42 GNAI2 CXCL6
11 11.34 GNAI2 GNA14
12 11.32 GNAI2 GNA14
13 11.25 INSR GNAI2
14 10.83 YWHAB INSR
15 10.16 INSR GNAI2 GNA14 CXCL6

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 5

Cellular components related to Hyperinsulinemic Hypoglycemia, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.62 GNAI2 GNA14

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.26 INSR GNAI2 GNA14 CXCL6
2 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 8.62 GNAI2 GNA14

Molecular functions related to Hyperinsulinemic Hypoglycemia, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.33 INSR GNAI2 GNA14
2 G protein-coupled receptor binding GO:0001664 9.26 GNAI2 GNA14
3 G-protein beta/gamma-subunit complex binding GO:0031683 8.96 GNAI2 GNA14
4 guanyl nucleotide binding GO:0019001 8.62 GNAI2 GNA14

Sources for Hyperinsulinemic Hypoglycemia, Familial, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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