HHF3
MCID: HYP601
MIFTS: 49

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 56 13 71
Hhf3 56 12 52 73
Hyperinsulinism Due to Glucokinase Deficiency 12 52 58
Familial Hyperinsulinemic Hypoglycemia 3 12 73 15
Hyperinsulinemic Hypoglycemia Familial 3 52 29 6
Hyperinsulinemic Hypoglycemia Due to Glucokinase Deficiency 12 58
Congenital Hyperinsulinism 73 71
Persistent Hyperinsulinemic Hypoglycemia of Infancy 73
Hypoglycemia, Hyperinsulinemic, Familial, Type 3 39
Phhi 73

Characteristics:

Orphanet epidemiological data:

58
hyperinsulinism due to glucokinase deficiency
Inheritance: Autosomal dominant;

OMIM:

56
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


External Ids:

Disease Ontology 12 DOID:0070216
OMIM 56 602485
OMIM Phenotypic Series 56 PS256450
ICD10 via Orphanet 33 E16.1
Orphanet 58 ORPHA79299
MedGen 41 C1865290
UMLS 71 C1865290 C3888018

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 3

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 3, also known as hhf3, is related to hyperinsulinemic hypoglycemia, familial, 1 and hyperinsulinemic hypoglycemia, familial, 2. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 3 is GCK (Glucokinase), and among its related pathways/superpathways are DNA Damage and Aurora B signaling. The drugs lanreotide and Angiopeptin have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and pancreas, and related phenotypes are hyperinsulinemic 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 : 73 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 115)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinemic hypoglycemia, familial, 1 12.6
2 hyperinsulinemic hypoglycemia, familial, 2 12.4
3 hyperinsulinemic hypoglycemia, familial, 5 12.4
4 hyperinsulinemic hypoglycemia, familial, 4 12.0
5 hyperinsulinemic hypoglycemia, familial, 6 11.5
6 hyperinsulinemic hypoglycemia 11.1
7 hypoglycemia 11.1
8 hyperinsulinism 10.8
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 10.2
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 atrial standstill 1 10.1
32 hemihyperplasia, isolated 10.1
33 alacrima, achalasia, and mental retardation syndrome 10.1
34 neonatal diabetes mellitus 10.1
35 cerebral palsy 10.1
36 hypertrophic cardiomyopathy 10.1
37 hypotonia 10.1
38 enterocolitis 10.0
39 insulin-like growth factor i 10.0
40 pulmonary hypertension 10.0
41 fanconi syndrome 10.0
42 exocrine pancreatic insufficiency 10.0
43 gonadal dysgenesis 10.0
44 glycogen storage disease 10.0
45 turner syndrome 10.0
46 hepatoblastoma 10.0
47 diabetes mellitus 10.0
48 hypopituitarism 10.0
49 fasting hypoglycemia 10.0
50 glucagonoma 10.0

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 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperinsulinemic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000825
2 fasting hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008283
3 recurrent hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001988
4 abnormal c-peptide level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030794
5 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
6 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
7 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
8 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
9 hand tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002378
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 diabetes mellitus 31 HP:0000819
15 abnormality of nervous system physiology 58 Very rare (<4-1%)
16 hypoglycemic seizures 31 HP:0002173
17 hypoglycemic coma 31 HP:0001325

Symptoms via clinical synopsis from OMIM:

56
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 9.33 AURKB CEP55 UNC5B
2 Decreased cella89culturea89derived Hepatitis C virus (HCVcc; Luca89Jc1) infection GR00234-A-2 9.26 AURKB GCK
3 Decreased substrate adherent cell growth GR00193-A-2 9.13 AURKB
4 Decreased substrate adherent cell growth GR00193-A-4 9.13 AURKB AURKC
5 Effect on mitosis GR00257-A-2 8.92 AURKB AURKC CEP55 EDC4

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 3

Drugs for Hyperinsulinemic Hypoglycemia, Familial, 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2 Angiopeptin Phase 4
3
Glucagon Approved Phase 3 16941-32-5
4
Diazoxide Approved Phase 2 364-98-7 3019
5
Pancrelipase Approved, Investigational Phase 2 53608-75-6
6
Exenatide Approved, Investigational Phase 1, Phase 2 141758-74-9 15991534
7
tannic acid Approved Phase 1, Phase 2 1401-55-4
8
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
9 pancreatin Phase 2
10 Anti-Obesity Agents Phase 1, Phase 2
11 Hypoglycemic Agents Phase 1, Phase 2
12 Antineoplastic Agents, Hormonal Phase 2
13 Plasma Substitutes Phase 1, Phase 2
14 lysine Phase 1, Phase 2
15 Radiopharmaceuticals Phase 1, Phase 2
16 Polygeline Phase 1, Phase 2
17 Blood Substitutes Phase 1, Phase 2
18 Hormone Antagonists Phase 2
19 Hormones Phase 2
20 Gastrointestinal Agents Phase 2
21 Incretins Phase 2
22 Glucagon-Like Peptide 1 Phase 1, Phase 2
23 Anesthetics, Local Phase 1, Phase 2
24 Anesthetics Phase 1, Phase 2
25 Central Nervous System Depressants Phase 1, Phase 2
26
Acarbose Approved, Investigational Phase 1 56180-94-0 441184
27
Octreotide Approved, Investigational Phase 1 83150-76-9 383414 6400441
28
Somatostatin Approved, Investigational Phase 1 51110-01-1, 38916-34-6 53481605
29
Levodopa Approved Phase 1 59-92-7 6047
30
Lactitol Investigational Phase 1 585-86-4, 585-88-6 493591
31 Cardiac Glycosides Phase 1
32 Glycoside Hydrolase Inhibitors Phase 1
33 insulin Phase 1
34 Insulin, Globin Zinc Phase 1
35
Insulin aspart Approved 116094-23-6 16132418
36
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
37
Dopamine Approved 51-61-6, 62-31-7 681
38
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
39 Tocotrienol Investigational 6829-55-6
40 Micronutrients
41 Trace Elements
42 Tocopherols
43 Nutrients
44 Antioxidants
45 Tocotrienols
46 Protective Agents
47 Vitamins
48 Neurotransmitter Agents
49 Dopamine Agents
50 Dihydroxyphenylalanine

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Treatment With Lanreotide Autogel (Somatostatin Analogue) in Patients With Congenital Hyperinsulinism of Infancy Already Treated With Somatostatin Analog by Pump Unknown status NCT01070758 Phase 4 Lanreotide autogel
2 A Two-Period, Open-label Trial Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Recruiting NCT03777176 Phase 3 dasiglucagon
3 A Randomized Trial in 2 Parts: Double-Blind, Placebo-Controlled, Crossover Part 1 and Open-label Part 2, Evaluating the Efficacy and Safety of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Recruiting NCT04172441 Phase 2, Phase 3 dasiglucagon;Placebo
4 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
5 Dasiglucagon in the Treatment of Postprandial Hypoglycaemia After Roux-en-Y Gastric Bypass Recruiting NCT03984370 Phase 3 ZP4207
6 An Extension Trial Evaluating the Long-term Safety and Efficacy of Dasiglucagon for the Treatment of Children With Congenital Hyperinsulinism Enrolling by invitation NCT03941236 Phase 3 dasiglucagon
7 Localization of Focal Forms of Hyperinsulinism of Infancy With 18F-labeled L-fluoro-DOPA PET Scan Completed NCT00674440 Phase 2 F-DOPA
8 A Phase II Safety and Efficacy Study of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Children With Hyperinsulinemic Hypoglycemia Completed NCT01468454 Phase 2 18 F-DOPA
9 A Single-Dose Open-Label Study of XOMA 358 in Subjects With Congenital Hyperinsulinism (HI) Completed NCT02604485 Phase 2 Cohort 1;Cohort 2;Cohort 3;Cohort 4
10 Role of GLP-1 in Congenital Hyperinsulinism:Effect of Exendin-(9-39) on Fasting Adaptation and Protein Sensitivity Completed NCT00897676 Phase 1, Phase 2 Exendin-(9-39);placebo
11 An Open Label Pilot Study of the Effects of the Glucagon-like Peptide-1 Receptor Antagonist, Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism Completed NCT00571324 Phase 1, Phase 2 Exendin-(9-39)
12 A Phase 2 Proof-of-Concept Study of CSI-Glucagon™ (Continuous Subcutaneous Glucagon Infusion) to Prevent Hypoglycemia With Lower Intravenous Glucose Infusion Rates in Children up to One Year of Age With Congenital Hyperinsulinism Completed NCT02937558 Phase 2 Glucagon
13 Replace Sandostatine® in Three Daily Subcutaneous Injections by a Single Intramuscular Injection of Sandostatine® LP Per Month in Patients With a Diffuse Form of Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
14 Effect of Gelofusine on 111In-DTPA-AHX-Lys40-Exendin 4 Uptake in the Kidney Completed NCT02541734 Phase 1, Phase 2 Gelofusine;Placebo
15 A Phase 2, Interventional, Randomized, Double-Blind, Placebo-Controlled Pilot Study of Glucagon RTU in Subjects Who Experience Hyperinsulinemic Hypoglycemia After Bariatric Surgery Recruiting NCT03770637 Phase 2 Glucagon RTU
16 Role of GLP-1 In Congenital Hyperinsulinism: Effect Of Exendin-(9-39)On Glucose Requirements To Maintain Euglycemia Suspended NCT00835328 Phase 1, Phase 2 exendin-(9-39)
17 Pasireotide for Prevention of Hypoglycemia in Patients With Hyperinsulinemic Hypoglycemia Withdrawn NCT03053284 Phase 2 Pasireotide 0.6Mg Solution for Injection;Saline Solution
18 Pilot Study of the Efficacy and Safety of Sirolimus in the Treatment of Congenital Hyperinsulinism. Withdrawn NCT02524639 Phase 1, Phase 2 Sirolimus
19 A Pilot Study Evaluating Exenatide for the Treatment of Postprandial Hyperinsulinemic Hypoglycemia Post-RYGB Completed NCT02685852 Phase 1 Exenatide;Acarbose;Placebo
20 18F-Fluoro-L- DOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism Recruiting NCT04205604 Phase 1
21 The Use of Fluorodopa F 18 Positron Emission Tomography Combined With Computed Tomography in Congenital Hyperinsulinism and Insulinoma Recruiting NCT02021604 Phase 1 Fluorodopa F 18
22 Treatment Plan for an Individual Patient With Pasireotide for Hyperinsulinemic Hypoglycemia Recruiting NCT03103009 Phase 1 Pasireotide
23 Long Term Glucose Metabolism in Conservatively Treated Patients With Congenital Hyperinsulinism Unknown status NCT01819584
24 Towards Individualized Surgery in Non-focal Congenital Hyperinsulinism Completed NCT02108730
25 New Imaging Procedure for the Localisation of Insulinoma Completed NCT02127541
26 Bihormonal Bionic Pancreas for the Treatment of Diabetes Post-Pancreatectomy in Children With Congenital Hyperinsulinism - A Pilot Study Completed NCT03303196
27 Prevention of Hypoglycemia in Patients With Post-Gastric Bypass Hyperinsulinemic Hypoglycemia Completed NCT01933490
28 The Physiology of Glucagon-like-peptide-1 Espression in Patients With Endogenous Hyperinsulinism: Correlation With Histopathology Recruiting NCT03768518
29 Vitamin E Supplementation in Hyperinsulinism/Hyperammonemia Syndrome Recruiting NCT03797222
30 Application of Raw Corn Starch on Patients With Unoperated Insulinoma is Helpful to Decrease Risk of Hypoglycemia Recruiting NCT03930368
31 Compassionate Use of SOM230 for Individual Patient (NS, 14-Jan-1986) With Hyperinsulinemic/Hypoglycemia Available NCT02835131 Pasireotide
32 Expanded Access Use of 18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia Available NCT01916148 18F-DOPA
33 Phase II Study of the Use of [18F]-DOPA in Hyperinsulinemic Hypoglycemia Available NCT02533219 18 F-DOPA

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia, Familial, 3

Genetic Tests for Hyperinsulinemic Hypoglycemia, Familial, 3

Genetic tests related to Hyperinsulinemic Hypoglycemia, Familial, 3:

# Genetic test Affiliating Genes
1 Hyperinsulinemic Hypoglycemia Familial 3 29 GCK

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 3

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

40
Brain, Kidney, Pancreas, 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. 56 6
20375417 2010
2
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. 56 6
15277402 2004
3
The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. 56 6
11916951 2002
4
Familial hyperinsulinism caused by an activating glucokinase mutation. 56 6
9435328 1998
5
Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. 56 6
9469993 1998
6
Familial Hyperinsulinism 6
20301549 2003
7
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
8
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 all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GCK NM_000162.5(GCK):c.1363G>A (p.Val455Met)SNV Pathogenic 16140 rs104894012 7:44184770-44184770 7:44145171-44145171
2 GCK NM_000162.5(GCK):c.1367C>T (p.Ala456Val)SNV Pathogenic 16143 rs104894014 7:44184766-44184766 7:44145167-44145167
3 GCK NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)SNV Pathogenic 16144 rs104894015 7:44189397-44189397 7:44149798-44149798
4 GCK GCK, VAL91LEUundetermined variant Pathogenic 16146
5 GCK NM_000162.5(GCK):c.544G>A (p.Val182Met)SNV Pathogenic 129144 rs587780345 7:44189603-44189603 7:44150004-44150004
6 GCK NM_000162.5(GCK):c.766G>A (p.Glu256Lys)SNV Pathogenic 265175 rs769268803 7:44187346-44187346 7:44147747-44147747
7 GCK NM_000162.5(GCK):c.1358_1360CGG[3] (p.Ala454dup)short repeat Pathogenic 435297 rs1554334433 7:44184769-44184770 7:44145170-44145171
8 GCK NM_000162.5(GCK):c.1165G>C (p.Val389Leu)SNV Pathogenic 435300 rs1350717554 7:44185184-44185184 7:44145585-44145585
9 GCK NM_000162.5(GCK):c.667G>A (p.Gly223Ser)SNV Pathogenic 435306 rs1360415315 7:44189371-44189371 7:44149772-44149772
10 GCK NM_000162.5(GCK):c.676G>A (p.Val226Met)SNV Pathogenic/Likely pathogenic 36243 rs148311934 7:44189362-44189362 7:44149763-44149763
11 GCK NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)SNV Likely pathogenic 36200 rs193922283 7:44184775-44184775 7:44145176-44145176
12 GCK NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)SNV Uncertain significance 585914 rs1185622190 7:44184823-44184823 7:44145224-44145224

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

73
# 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

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

# Super pathways Score Top Affiliating Genes
1 11.6 CEP55 AURKC AURKB
2
Show member pathways
10.28 AURKC AURKB

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 midbody GO:0030496 9.43 CEP55 AURKC AURKB
2 spindle microtubule GO:0005876 9.37 AURKC AURKB
3 spindle midzone GO:0051233 9.32 AURKC AURKB
4 spindle pole centrosome GO:0031616 9.16 AURKC AURKB
5 condensed nuclear chromosome, centromeric region GO:0000780 8.96 AURKC AURKB
6 chromosome passenger complex GO:0032133 8.62 AURKC AURKB

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

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.58 CEP55 AURKC AURKB
2 mitotic spindle organization GO:0007052 9.37 AURKC AURKB
3 regulation of cytokinesis GO:0032465 9.32 AURKC AURKB
4 positive regulation of cytokinesis GO:0032467 9.26 AURKC AURKB
5 attachment of spindle microtubules to kinetochore GO:0008608 9.16 AURKC AURKB
6 histone modification GO:0016570 8.96 AURKC AURKB
7 mitotic spindle midzone assembly GO:0051256 8.62 AURKC AURKB

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

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine/tyrosine kinase activity GO:0004712 8.96 AURKC AURKB
2 histone serine kinase activity GO:0035174 8.62 AURKC AURKB

Sources for Hyperinsulinemic Hypoglycemia, Familial, 3

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
35 IUPHAR
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
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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