HHF5
MCID: HYP326
MIFTS: 53

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 56 13 71
Familial Hyperinsulinemic Hypoglycemia 5 12 73 15
Hyperinsulinemic Hypoglycemia Familial 5 29 6 39
Hhf5 56 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:

56
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 56 609968
OMIM Phenotypic Series 56 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, 1 and hyperinsulinemic hypoglycemia, familial, 2. 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, testes 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 120)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 1 12.6
2 hyperinsulinemic hypoglycemia, familial, 2 12.4
3 hyperinsulinemic hypoglycemia, familial, 4 12.0
4 hyperinsulinemic hypoglycemia, familial, 3 11.7
5 hyperinsulinemic hypoglycemia, familial, 6 11.5
6 hyperinsulinemic hypoglycemia 11.1
7 hypoglycemia 11.1
8 hyperinsulinism 10.7
9 autosomal recessive disease 10.5
10 hyperglycemia 10.4
11 carbonic anhydrase va deficiency, hyperammonemia due to 10.4
12 insulinoma 10.3
13 maturity-onset diabetes of the young 10.3
14 diabetes mellitus, noninsulin-dependent 10.2
15 paternal uniparental disomy 10.2
16 overgrowth syndrome 10.2
17 beckwith-wiedemann syndrome 10.2
18 ocular motor apraxia 10.2
19 gallbladder disease 1 10.2
20 diabetes mellitus, insulin-dependent, 11 10.2
21 abdominal obesity-metabolic syndrome 1 10.2
22 cyanosis, transient neonatal 10.2
23 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
24 glucose intolerance 10.2
25 hypertrichosis 10.2
26 adenoma 10.2
27 neuroblastoma 10.2
28 kabuki syndrome 1 10.2
29 acute insulin response 10.2
30 monogenic diabetes 10.2
31 hypotonia 10.2
32 atrial standstill 1 10.1
33 hemihyperplasia, isolated 10.1
34 alacrima, achalasia, and mental retardation syndrome 10.1
35 neonatal diabetes mellitus 10.1
36 hypertrophic cardiomyopathy 10.1
37 cerebral palsy 10.1
38 enterocolitis 10.0
39 insulin-like growth factor i 10.0
40 fanconi renotubular syndrome 2 10.0
41 helix syndrome 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, 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 insulin resistance 58 31 occasional (7.5%) Occasional (29-5%) HP:0000855
8 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
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:

56
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

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 5

Drugs for Hyperinsulinemic Hypoglycemia, Familial, 5 (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, 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, Testes, Kidney, Brain, Spleen, B Cells, Pancreatic Islet

Publications for Hyperinsulinemic Hypoglycemia, Familial, 5

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 5:

(show top 50) (show all 558)
# Title Authors PMID Year
1
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. 6 56
15161766 2004
2
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 6
27896077 2014
3
Familial Hyperinsulinism 6
20301549 2003
4
Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 6
8288049 1994
5
A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia. 61
32336187 2020
6
18-F-L 3,4-Dihydroxyphenylalanine PET/Computed Tomography in the Management of Congenital Hyperinsulinism. 61
32498990 2020
7
Detection of Insulinomas Using Dual-Time-Point 68Ga-DOTA-Exendin 4 PET/CT. 61
32453080 2020
8
Multiplexing DNA methylation markers to detect circulating cell-free DNA derived from human pancreatic beta-cells. 61
32573495 2020
9
Surgical management of medically-refractory hyperinsulinism. 61
31757439 2020
10
Rare causes of hypoglycemia in adults. 61
32409005 2020
11
Sirolimus therapy and follow-up in a patient with severe congenital hyperinsulinism following subtotal pancreatectomy. 61
32482020 2020
12
Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism. 61
31777044 2020
13
Surgical treatment of congenital hyperinsulinism. 61
32571515 2020
14
Congenital hyperinsulinism: management and outcome, a single tertiary centre experience. 61
32002613 2020
15
Congenital hyperinsulinism due to mutations in HNF1A. 61
32325224 2020
16
Spontaneous Resolution of Congenital Hyperinsulinism With Octreotide Therapy. 61
32444525 2020
17
Complexities in the medical management of hypoglycaemia due to congenital hyperinsulinism. 61
31917867 2020
18
Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy. 61
32267248 2020
19
The role of 18F-DOPA PET/CT in the diagnosis of the congenital focal form of hyperinsulinism in children. 61
32448747 2020
20
Receptor-targeted photodynamic therapy of glucagon-like peptide 1 receptor positive lesions. 61
32385165 2020
21
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center. 61
31997554 2020
22
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
23
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
24
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism. 61
32170320 2020
25
Rare association of Beckwith-Wiedemann syndrome with Hirschsprung's disease in an infant with hypoglycemia. 61
32341092 2020
26
Congenital Hyperinsulinism Caused by Novel Homozygous KATP Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families. 61
32203961 2020
27
Somatostatin Analogs in Clinical Practice: a Review. 61
32121432 2020
28
Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures. 61
31821855 2020
29
Necrotising enterocolitis in a newborn infant treated with octreotide for chylous effusion: is octreotide safe? 61
32051156 2020
30
Neonatal cardiac hypertrophy: the role of hyperinsulinism-a review of literature. 61
31840185 2020
31
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism. 61
30797057 2020
32
Congenital hyperinsulinism associated with Hirschsprung's disease-a report of an extremely rare case. 61
31916119 2020
33
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism. 61
31577849 2020
34
Congenital hyperinsulinism: characterization of patients treated in a pediatric university hospital in Colombia. 61
32226004 2020
35
Delayed Resolution of Feeding Problems in Patients With Congenital Hyperinsulinism. 61
32256453 2020
36
Congenital hyperinsulinsim: case report and review of literature. 61
32537058 2020
37
Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia. 61
31586326 2020
38
Targeted optical imaging of the glucagon-like peptide 1 receptor using exendin-4-IRDye800CW. 61
31924726 2020
39
PET-Based Human Dosimetry of 68Ga-NODAGA-Exendin-4, a Tracer for β-Cell Imaging. 61
31519801 2020
40
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
41
Congenital hyperinsulinism disorders: Genetic and clinical characteristics. 61
31414570 2019
42
Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China 61
31208162 2019
43
[Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism]. 61
32202736 2019
44
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. 61
31147633 2019
45
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping. 61
31464105 2019
46
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
47
Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1. 61
31119523 2019
48
A Newborn with Congenital Hyperinsulinism. 61
31002010 2019
49
Novel Preparations of Glucagon for the Prevention and Treatment of Hypoglycemia. 61
31493043 2019
50
Thrombocytopaenia: a serious side effect of diazoxide. 61
31511269 2019

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>CSNV Pathogenic 211189 rs797045624 19:7167977-7167977 19:7167966-7167966
3 INSR NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)SNV Conflicting interpretations of pathogenicity 549552 rs78433961 19:7142981-7142981 19:7142970-7142970
4 INSR NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)SNV Uncertain significance 282255 rs76077021 19:7141705-7141705 19:7141694-7141694
5 INSR NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)SNV Uncertain significance 435517 rs369102740 19:7119479-7119479 19:7119468-7119468
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 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 YWHAB PTPN3 INSR GNAI2 GNA15 GNA14
2
Show member pathways
13.21 YWHAB PTPN3 INSR GNAI2 GNA15 GNA14
3
Show member pathways
13.12 YWHAB GNAI2 GNA15 GNA14 CXCL6
4
Show member pathways
12.99 YWHAB INSR GNAI2 GNA15 GNA14 CXCL6
5
Show member pathways
12.8 YWHAB GNAI2 GNA15 GNA14
6
Show member pathways
12.68 YWHAB INSR GNAI2 GNA15 GNA14
7
Show member pathways
12.67 INSR GNAI2 GNA15 GNA14
8
Show member pathways
12.62 YWHAB GNAI2 GNA15 GNA14
9
Show member pathways
12.62 GNAI2 GNA15 GNA14 CXCL6
10
Show member pathways
12.42 GNAI2 GNA15 GNA14
11
Show member pathways
12.39 YWHAB INSR GNAI2 GNA15 GNA14
12
Show member pathways
12.25 YWHAB GNAI2 GNA15 GNA14
13
Show member pathways
12.24 GNAI2 GNA15 GNA14
14 12.2 GNAI2 GNA15 GNA14
15
Show member pathways
12.16 GNAI2 GNA15 GNA14
16
Show member pathways
12.13 GNAI2 GNA15 GNA14
17
Show member pathways
12.05 YWHAB INSR GNAI2 GNA15 GNA14
18
Show member pathways
11.93 GNAI2 GNA15 GNA14
19
Show member pathways
11.69 GNAI2 GNA15 GNA14
20 11.64 GNAI2 GNA15 GNA14
21 11.53 GNAI2 CXCL6
22 11.5 INSR GNA15 GNA14
23 11.39 INSR GNAI2
24 11.34 GNAI2 GNA15
25 11.31 GNA15 GNA14
26 11.31 GNAI2 GNA15 GNA14
27
Show member pathways
11.16 INSR GNAI2 GNA15 GNA14
28 11.13 GNA15 GNA14
29 11.04 YWHAB INSR
30
Show member pathways
10.73 GNA15 GNA14
31 10.46 INSR GNAI2 GNA15 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 8.8 GNAI2 GNA15 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 9.55 INSR GNAI2 GNA15 GNA14 CXCL6
2 response to nutrient GO:0007584 9.32 UCP3 GNAI2
3 action potential GO:0001508 9.26 GNA15 GNA14
4 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 8.96 GNA15 GNA14
5 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 8.8 GNAI2 GNA15 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 9.62 INSR GNAI2 GNA15 GNA14
2 GTPase activity GO:0003924 9.54 GNAI2 GNA15 GNA14
3 G protein-coupled receptor binding GO:0001664 9.43 GNAI2 GNA15 GNA14
4 type 2A serotonin receptor binding GO:0031826 9.16 GNA15 GNA14
5 G-protein beta/gamma-subunit complex binding GO:0031683 9.13 GNAI2 GNA15 GNA14
6 guanyl nucleotide binding GO:0019001 8.8 GNAI2 GNA15 GNA14

Sources for Hyperinsulinemic Hypoglycemia, Familial, 5

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
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