HHF3
MCID: HYP601
MIFTS: 48

Hyperinsulinemic Hypoglycemia, Familial, 3 (HHF3)

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 3

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 3:

Name: Hyperinsulinemic Hypoglycemia, Familial, 3 57 13 70
Hyperinsulinism Due to Glucokinase Deficiency 12 20 58 29 6
Hhf3 57 12 20 72
Familial Hyperinsulinemic Hypoglycemia 3 12 72 15
Hyperinsulinemic Hypoglycemia Due to Glucokinase Deficiency 12 58
Congenital Hyperinsulinism 72 70
Persistent Hyperinsulinemic Hypoglycemia of Infancy 72
Hypoglycemia, Hyperinsulinemic, Familial, Type 3 39
Hyperinsulinemic Hypoglycemia Familial 3 20
Phhi 72

Characteristics:

Orphanet epidemiological data:

58
hyperinsulinism due to glucokinase deficiency
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

31
hyperinsulinemic hypoglycemia, familial, 3:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070216
OMIM® 57 602485
OMIM Phenotypic Series 57 PS256450
ICD10 via Orphanet 33 E16.1
Orphanet 58 ORPHA79299
MedGen 41 C1865290
UMLS 70 C1865290 C3888018

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 3

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79299 Definition Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism (see this term), caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epidemiology Prevalence for congenital isolated hyperinsulinism (CHI, see this term) is estimated at 1/50,000 live births. GCK alterations are noted in 1.2% of patients with non-syndromic CHI. Clinical description Clinical picture is similar to that described in CHI with mild manifestations leading to a delay in diagnosis until adulthood. A notable clinical feature is the remarkable stability of their hypoglycemia consistent with a resetting of the threshold for insulin release. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide necessitating near-total pancreatectomy. The potential development of type 2 diabetes with age is another notable feature Neurological sequelae due to rapidly falling glucose levels are rare. Etiology Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified to cause HIGCK. Glucokinase has been described as the glucose sensor of pancreatic beta- cells. These mutations localize to an allosteric activator site and increase the protein's affinity to glucose and its efficacy in ATP-dependent phosphorylation of glucose, causing resetting of the threshold for insulin release at a value lower than normal. Recently, a somatic activating mutation in GCK has been proposed as a cause of a novel form of diazoxide-responsive focal CHI. Inactivating mutations GCK have been identified in cases of maturity onset diabetes of the young 2 (MODY 2, see this term). Genetic counseling Most activating mutations of genes GCK identified to date are dominant. De novo mutations have also been reported.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 3, also known as hyperinsulinism due to glucokinase deficiency, is related to hyperinsulinemic hypoglycemia, familial, 2 and hyperinsulinemic hypoglycemia, familial, 1. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 3 is GCK (Glucokinase), and among its related pathways/superpathways are Mitotic Prophase and Signaling by Rho GTPases. The drugs lanreotide and Angiopeptin have been mentioned in the context of this disorder. Affiliated tissues include kidney, pancreas and bone, and related phenotypes are recurrent hypoglycemia and fasting hyperinsulinemia

Disease Ontology : 12 A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has material basis in activating mutations in the GCK gene on chromosome 7p13.

UniProtKB/Swiss-Prot : 72 Familial hyperinsulinemic hypoglycemia 3: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.

More information from OMIM: 602485 PS256450

Related Diseases for Hyperinsulinemic Hypoglycemia, Familial, 3

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

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 2 32.5 H4-16 H2AC20 H2AC18
2 hyperinsulinemic hypoglycemia, familial, 1 32.5 H4-16 H2AC20 H2AC18
3 hyperinsulinemic hypoglycemia, familial, 4 32.4 CEP55 AURKB
4 hyperinsulinemic hypoglycemia 31.6 H4-16 H2AC18 GCK
5 transient neonatal diabetes mellitus 30.2 H2AC18 GCK
6 hyperoxaluria, primary, type i 29.3 H4-16 H2AC20 H2AC18
7 primary hyperoxaluria 29.3 H4-16 H2AC20 H2AC18
8 hyperinsulinemic hypoglycemia, familial, 5 11.7
9 hyperinsulinemic hypoglycemia, familial, 6 11.3
10 hypoglycemia 11.1
11 hyperinsulinism 10.8
12 autosomal recessive disease 10.5
13 carbonic anhydrase va deficiency, hyperammonemia due to 10.3
14 insulinoma 10.3
15 hyperglycemia 10.3
16 maturity-onset diabetes of the young 10.3
17 permanent neonatal diabetes mellitus 10.3
18 neonatal diabetes 10.3
19 diabetes mellitus, permanent neonatal, 1 10.3
20 beckwith-wiedemann syndrome 10.2
21 ocular motor apraxia 10.2
22 gallbladder disease 1 10.2
23 abdominal obesity-metabolic syndrome 1 10.2
24 diabetes mellitus, transient neonatal, 3 10.2
25 cyanosis, transient neonatal 10.2
26 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.2
27 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
28 glucose intolerance 10.2
29 hypertrichosis 10.2
30 adenoma 10.2
31 neuroblastoma 10.2
32 diabetes mellitus 10.2
33 paternal uniparental disomy 10.2
34 overgrowth syndrome 10.2
35 atrial standstill 1 10.1
36 kabuki syndrome 1 10.1
37 acute insulin response 10.1
38 alacrima, achalasia, and mental retardation syndrome 10.1
39 monogenic diabetes 10.1
40 hypotonia 10.1
41 maturity-onset diabetes of the young, type 1 10.1
42 type 1 diabetes mellitus 10.1
43 hemihyperplasia, isolated 10.1
44 helix syndrome 10.1
45 hypertrophic cardiomyopathy 10.1
46 exocrine pancreatic insufficiency 10.1
47 cerebral palsy 10.1
48 seizure disorder 10.1
49 uterine corpus cancer 10.0 H2AC18 AURKB
50 transvestism 10.0 H2AC20 H2AC18

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia, Familial, 3:



Diseases related to Hyperinsulinemic Hypoglycemia, Familial, 3

Symptoms & Phenotypes for Hyperinsulinemic Hypoglycemia, Familial, 3

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 3:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001988
2 fasting hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008283
3 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000825
4 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
5 abnormal c-peptide level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030794
6 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 hand tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002378
9 seizure 31 frequent (33%) HP:0001250
10 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
11 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
12 abnormality of the autonomic nervous system 58 31 very rare (1%) Very rare (<4-1%) HP:0002270
13 intellectual disability 31 HP:0001249
14 seizures 58 Frequent (79-30%)
15 diabetes mellitus 31 HP:0000819
16 abnormality of nervous system physiology 58 Very rare (<4-1%)
17 hypoglycemic coma 31 HP:0001325
18 hypoglycemic seizures 31 HP:0002173

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
hyperinsulinemia
hypoglycemia, nonketotic

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

Endocrine Features:
hyperinsulinemic hypoglycemia
diabetes mellitus, insulin-dependent, late onset (uncommon)

Clinical features from OMIM®:

602485 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.4 PMPCA
2 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.4 H2AC20
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.4 PMPCA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.4 PMPCA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.4 H2AC20
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.4 H2AC20
7 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.4 PMPCA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.4 PMPCA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.4 H2AC18 H2AC20
10 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.4 H2AC18 H2AC20

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 3

Drugs for Hyperinsulinemic Hypoglycemia, Familial, 3 (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 Sodium Potassium Chloride Symporter Inhibitors Phase 3
6 Radiopharmaceuticals Phase 3
7 diuretics Phase 3
8
Pancrelipase Approved, Investigational Phase 2 53608-75-6
9
Diazoxide Approved Phase 2 364-98-7 3019
10
Levodopa Approved Phase 2 59-92-7 6047
11
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
12
tannic acid Approved Phase 1, Phase 2 1401-55-4
13 Gastrointestinal Agents Phase 2
14 pancreatin Phase 2
15 Antineoplastic Agents, Hormonal Phase 2
16 Glucagon-Like Peptide 1 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 Incretins Phase 1
26 insulin Phase 1
27 Insulin, Globin Zinc Phase 1
28
Insulin aspart Approved 116094-23-6 16132418
29
Canagliflozin Approved 842133-18-0
30
Diazepam Approved, Illicit, Investigational, Vet_approved 439-14-5 3016
31
Dopamine Approved 51-61-6, 62-31-7 681
32
gastric inhibitory polypeptide Investigational 100040-31-1
33 Hypoglycemic Agents
34 Sodium-Glucose Transporter 2 Inhibitors
35 Nutrients
36 Dihydroxyphenylalanine
37 Dopamine Agents
38 Neurotransmitter Agents
39 Fluorides

Interventional clinical trials:

(show all 39)
# 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 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
8 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)
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 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 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Completed NCT03984370 Phase 2 ZP4207
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 A Phase 2, Open-Label, Cross-over Study to Assess the Safety and Efficacy of Avexitide in Acquired Hyperinsulinemic Hypoglycemia Not yet recruiting NCT04652479 Phase 2 Avexitide
20 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
21 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
22 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
23 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
24 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
25 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
26 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
27 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Unknown status NCT03768518
28 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Unknown status NCT03930368
29 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
30 Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Children With Congenital Hyperinsulinism - A Pilot Study Completed NCT03303196
31 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
32 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery, Part 1 C: Effect of Postprandial Hypoglycaemia on Driving Performance. Completed NCT04330196
33 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541
34 Deciphering the Enigma of Postprandial Hyperinsulinaemic Hypoglycaemia After Bariatric Surgery Part 1 B: Evaluation of the Neuro-endocrine Response to Hypoglycaemia. Recruiting NCT04334161
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 Role of Nutrient Transit and Incretin Hormones in Hyperinsulinemic Hypoglycemia Recruiting NCT04615546
37 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
38 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
39 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, 3

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 3

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 3:

# Genetic test Affiliating Genes
1 Hyperinsulinism Due to Glucokinase Deficiency 29 GCK

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 3

MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia, Familial, 3:

40
Kidney, Pancreas, Bone, Pituitary

Publications for Hyperinsulinemic Hypoglycemia, Familial, 3

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 3:

# Title Authors PMID Year
1
Large islets, beta-cell proliferation, and a glucokinase mutation. 6 57
20375417 2010
2
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 57 6
15277402 2004
3
The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. 57 6
11916951 2002
4
Familial hyperinsulinism caused by an activating glucokinase mutation. 57 6
9435328 1998
5
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. 57 6
9469993 1998
6
Association of neuroimmune guidance cue netrin-1 and its chemorepulsive receptor UNC5B with atherosclerotic plaque expression signatures and stability in human(s): Tampere Vascular Study (TVS). 61
24122613 2013
7
Differential regulation of repeated histone genes during the fission yeast cell cycle. 61
17452352 2007

Variations for Hyperinsulinemic Hypoglycemia, Familial, 3

ClinVar genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 3:

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GCK NM_000162.5(GCK):c.1363G>A (p.Val455Met) SNV Pathogenic 16140 rs104894012 GRCh37: 7:44184770-44184770
GRCh38: 7:44145171-44145171
2 GCK NM_000162.5(GCK):c.1367C>T (p.Ala456Val) SNV Pathogenic 16143 rs104894014 GRCh37: 7:44184766-44184766
GRCh38: 7:44145167-44145167
3 GCK NM_000162.5(GCK):c.641A>G (p.Tyr214Cys) SNV Pathogenic 16144 rs104894015 GRCh37: 7:44189397-44189397
GRCh38: 7:44149798-44149798
4 GCK GCK, VAL91LEU Variation Pathogenic 16146 GRCh37:
GRCh38:
5 GCK NM_000162.5(GCK):c.766G>A (p.Glu256Lys) SNV Pathogenic 265175 rs769268803 GRCh37: 7:44187346-44187346
GRCh38: 7:44147747-44147747
6 GCK NM_000162.5(GCK):c.676G>A (p.Val226Met) SNV Pathogenic 36243 rs148311934 GRCh37: 7:44189362-44189362
GRCh38: 7:44149763-44149763
7 GCK NM_000162.5(GCK):c.667G>A (p.Gly223Ser) SNV Pathogenic 435306 rs1360415315 GRCh37: 7:44189371-44189371
GRCh38: 7:44149772-44149772
8 GCK NM_000162.5(GCK):c.544G>A (p.Val182Met) SNV Pathogenic 129144 rs587780345 GRCh37: 7:44189603-44189603
GRCh38: 7:44150004-44150004
9 GCK NM_000162.5(GCK):c.1165G>C (p.Val389Leu) SNV Pathogenic 435300 rs1350717554 GRCh37: 7:44185184-44185184
GRCh38: 7:44145585-44145585
10 GCK NM_000162.5(GCK):c.1358_1360CGG[3] (p.Ala454dup) Microsatellite Pathogenic 435297 rs1554334433 GRCh37: 7:44184769-44184770
GRCh38: 7:44145170-44145171
11 GCK NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) SNV Likely pathogenic 36200 rs193922283 GRCh37: 7:44184775-44184775
GRCh38: 7:44145176-44145176
12 GCK NM_000162.5(GCK):c.792C>A (p.Gly264=) SNV Uncertain significance 909471 GRCh37: 7:44187320-44187320
GRCh38: 7:44147721-44147721
13 GCK NM_000162.5(GCK):c.483+3G>A SNV Uncertain significance 909539 GRCh37: 7:44190552-44190552
GRCh38: 7:44150953-44150953
14 GCK NM_000162.5(GCK):c.435C>G (p.Pro145=) SNV Uncertain significance 909540 GRCh37: 7:44190603-44190603
GRCh38: 7:44151004-44151004
15 GCK NM_000162.5(GCK):c.-453C>T SNV Uncertain significance 435294 rs191795044 GRCh37: 7:44229005-44229005
GRCh38: 7:44189406-44189406
16 GCK NM_000162.5(GCK):c.-455A>G SNV Uncertain significance 909717 GRCh37: 7:44229007-44229007
GRCh38: 7:44189408-44189408
17 GCK NM_000162.5(GCK):c.680-14G>C SNV Uncertain significance 909472 GRCh37: 7:44187446-44187446
GRCh38: 7:44147847-44147847
18 GCK NM_000162.5(GCK):c.675C>T (p.Ile225=) SNV Uncertain significance 910410 GRCh37: 7:44189363-44189363
GRCh38: 7:44149764-44149764
19 GCK NM_000162.5(GCK):c.666C>T (p.Val222=) SNV Uncertain significance 36242 rs193922318 GRCh37: 7:44189372-44189372
GRCh38: 7:44149773-44149773
20 GCK NM_000162.5(GCK):c.-456G>A SNV Uncertain significance 910637 GRCh37: 7:44229008-44229008
GRCh38: 7:44189409-44189409
21 GCK NM_000162.5(GCK):c.1262A>G (p.Glu421Gly) SNV Uncertain significance 910353 GRCh37: 7:44184871-44184871
GRCh38: 7:44145272-44145272
22 GCK NM_000162.5(GCK):c.1253+12C>T SNV Uncertain significance 911565 GRCh37: 7:44185084-44185084
GRCh38: 7:44145485-44145485
23 GCK NM_000162.5(GCK):c.649G>A (p.Asp217Asn) SNV Uncertain significance 911631 GRCh37: 7:44189389-44189389
GRCh38: 7:44149790-44149790
24 GCK NM_000162.5(GCK):c.10G>A (p.Asp4Asn) SNV Uncertain significance 911766 GRCh37: 7:44228543-44228543
GRCh38: 7:44188944-44188944
25 GCK NM_000162.5(GCK):c.-279C>T SNV Uncertain significance 911818 GRCh37: 7:44228831-44228831
GRCh38: 7:44189232-44189232
26 GCK NM_000162.5(GCK):c.-396C>G SNV Uncertain significance 908862 GRCh37: 7:44228948-44228948
GRCh38: 7:44189349-44189349
27 GCK NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) SNV Uncertain significance 908615 GRCh37: 7:44185325-44185325
GRCh38: 7:44145726-44145726
28 GCK NM_000162.5(GCK):c.1386G>T (p.Met462Ile) SNV Uncertain significance 36202 rs193922285 GRCh37: 7:44184747-44184747
GRCh38: 7:44145148-44145148
29 GCK NM_000162.5(GCK):c.-137C>G SNV Uncertain significance 909651 GRCh37: 7:44228689-44228689
GRCh38: 7:44189090-44189090
30 GCK NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) SNV Uncertain significance 585914 rs1185622190 GRCh37: 7:44184823-44184823
GRCh38: 7:44145224-44145224
31 GCK NM_000162.5(GCK):c.1120G>T (p.Val374Leu) SNV Uncertain significance 908614 GRCh37: 7:44185229-44185229
GRCh38: 7:44145630-44145630
32 GCK NM_000162.5(GCK):c.580-11C>T SNV Uncertain significance 908684 GRCh37: 7:44189469-44189469
GRCh38: 7:44149870-44149870
33 GCK NM_000162.5(GCK):c.363+9C>T SNV Uncertain significance 748518 rs200985182 GRCh37: 7:44191861-44191861
GRCh38: 7:44152262-44152262
34 GCK NM_000162.5(GCK):c.-102G>C SNV Uncertain significance 908804 GRCh37: 7:44228654-44228654
GRCh38: 7:44189055-44189055
35 GCK NM_000162.5(GCK):c.-102G>A SNV Uncertain significance 435292 rs781377703 GRCh37: 7:44228654-44228654
GRCh38: 7:44189055-44189055
36 GCK NM_000162.5(GCK):c.-449G>A SNV Uncertain significance 908863 GRCh37: 7:44229001-44229001
GRCh38: 7:44189402-44189402
37 GCK NM_000162.5(GCK):c.363+10G>C SNV Uncertain significance 360300 rs758495950 GRCh37: 7:44191860-44191860
GRCh38: 7:44152261-44152261
38 GCK NM_000162.5(GCK):c.*678G>T SNV Uncertain significance 360290 rs555058443 GRCh37: 7:44184057-44184057
GRCh38: 7:44144458-44144458
39 GCK NM_000162.5(GCK):c.393C>T (p.Ser131=) SNV Uncertain significance 360299 rs139139350 GRCh37: 7:44190645-44190645
GRCh38: 7:44151046-44151046
40 GCK NM_000162.5(GCK):c.*11C>T SNV Uncertain significance 255399 rs200698755 GRCh37: 7:44184724-44184724
GRCh38: 7:44145125-44145125
41 GCK NM_000162.5(GCK):c.*721C>T SNV Uncertain significance 360289 rs886062346 GRCh37: 7:44184014-44184014
GRCh38: 7:44144415-44144415
42 GCK NM_000162.5(GCK):c.*270C>T SNV Uncertain significance 360297 rs886062348 GRCh37: 7:44184465-44184465
GRCh38: 7:44144866-44144866
43 GCK NM_000162.5(GCK):c.*723A>G SNV Uncertain significance 360288 rs886062345 GRCh37: 7:44184012-44184012
GRCh38: 7:44144413-44144413
44 GCK NM_000162.5(GCK):c.*844A>C SNV Uncertain significance 360283 rs886062344 GRCh37: 7:44183891-44183891
GRCh38: 7:44144292-44144292
45 GCK NM_000162.5(GCK):c.363+10G>A SNV Uncertain significance 360301 rs758495950 GRCh37: 7:44191860-44191860
GRCh38: 7:44152261-44152261
46 GCK NM_000162.5(GCK):c.*548G>A SNV Uncertain significance 360291 rs886062347 GRCh37: 7:44184187-44184187
GRCh38: 7:44144588-44144588
47 GCK NM_000162.5(GCK):c.*764C>T SNV Uncertain significance 360285 rs185418856 GRCh37: 7:44183971-44183971
GRCh38: 7:44144372-44144372
48 GCK NM_000162.5(GCK):c.46-12C>T SNV Likely benign 36222 rs142829768 GRCh37: 7:44193074-44193074
GRCh38: 7:44153475-44153475
49 GCK NM_000162.5(GCK):c.339C>T (p.Asp113=) SNV Likely benign 36213 rs149412035 GRCh37: 7:44191894-44191894
GRCh38: 7:44152295-44152295
50 GCK NM_000162.5(GCK):c.*735C>A SNV Likely benign 360287 rs556996030 GRCh37: 7:44184000-44184000
GRCh38: 7:44144401-44144401

UniProtKB/Swiss-Prot genetic disease variations for Hyperinsulinemic Hypoglycemia, Familial, 3:

72
# Symbol AA change Variation ID SNP ID
1 GCK p.Val455Met VAR_003715 rs104894012
2 GCK p.Thr65Ile VAR_078243
3 GCK p.Val91Leu VAR_078244
4 GCK p.Trp99Cys VAR_078245
5 GCK p.Glu442Lys VAR_078257 rs758737171
6 GCK p.Tyr214Cys VAR_079456 rs104894015
7 GCK p.Ala456Val VAR_079477 rs104894014

Expression for Hyperinsulinemic Hypoglycemia, Familial, 3

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia, Familial, 3.

Pathways for Hyperinsulinemic Hypoglycemia, Familial, 3

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 3

Cellular components related to Hyperinsulinemic Hypoglycemia, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.26 H4-16 H2AC20 H2AC18 AURKB
2 nucleosome GO:0000786 8.8 H4-16 H2AC20 H2AC18

Biological processes related to Hyperinsulinemic Hypoglycemia, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin silencing GO:0006342 8.62 H2AC20 H2AC18

Molecular functions related to Hyperinsulinemic Hypoglycemia, Familial, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 8.8 H4-16 H2AC20 H2AC18

Sources for Hyperinsulinemic Hypoglycemia, Familial, 3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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