HHF3
MCID: HYP601
MIFTS: 58

Hyperinsulinemic Hypoglycemia, Familial, 3 (HHF3)

Categories: Blood diseases, Endocrine 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 73
Hyperinsulinemic Hypoglycemia Familial 3 53 29 6 40
Hhf3 57 12 53 75
Hyperinsulinism Due to Glucokinase Deficiency 12 53 59
Familial Hyperinsulinemic Hypoglycemia 3 12 75 15
Hyperinsulinemic Hypoglycemia Due to Glucokinase Deficiency 12 59
Congenital Hyperinsulinism 75 73
Persistent Hyperinsulinemic Hypoglycemia of Infancy 75
Phhi 75

Characteristics:

Orphanet epidemiological data:

59
hyperinsulinism due to glucokinase deficiency
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

32
hyperinsulinemic hypoglycemia, familial, 3:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Hyperinsulinemic Hypoglycemia, Familial, 3

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79299Disease definitionHyperinsulism 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.EpidemiologyPrevalence 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 descriptionClinical 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.EtiologyActivating 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 counselingMost activating mutations of genesGCK 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 hyperinsulinemic hypoglycemia familial 3, is related to hypoglycemia and maturity-onset diabetes of the young. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 3 is GCK (Glucokinase), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and FoxO signaling pathway. Affiliated tissues include brain, pancreas and kidney, and related phenotypes are seizures and muscle weakness

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 : 75 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.

Description from OMIM: 602485

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 all 48)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 31.6 ABCC8 G6PC GCK
2 maturity-onset diabetes of the young 29.8 ABCC8 GCK LOC105375258
3 monogenic diabetes 29.8 ABCC8 GCK
4 hyperglycemia 29.6 ABCC8 G6PC GCK PCK2
5 hyperinsulinemic hypoglycemia, familial, 1 12.6
6 hyperinsulinemic hypoglycemia, familial, 2 12.2
7 hyperinsulinemic hypoglycemia, familial, 5 12.1
8 hyperinsulinemic hypoglycemia, familial, 4 11.5
9 hyperinsulinemic hypoglycemia, familial, 6 11.3
10 hyperinsulinism 11.1
11 hyperinsulinemic hypoglycemia 11.1
12 munchausen by proxy 10.1 ABCC8 GCK
13 neuroblastoma 10.1
14 insulinoma 10.1
15 glucose intolerance 10.1
16 maturity-onset diabetes of the young, type 14 10.1 ABCC8 GCK
17 maturity-onset diabetes of the young, type 13 10.1 ABCC8 GCK
18 beckwith-wiedemann syndrome 10.1
19 hepatitis 10.1
20 hypertrophic cardiomyopathy 10.1
21 endocrine pancreas disease 10.1 ABCC8 GCK
22 fanconi-bickel syndrome 10.1 ABCC8 G6PC
23 pancreatic agenesis 10.0 ABCC8 GCK
24 glucose metabolism disease 10.0 ABCC8 G6PC GCK
25 kabuki syndrome 1 10.0
26 acute insulin response 10.0
27 diabetes mellitus 10.0
28 prostate small cell carcinoma 10.0 AURKA PTEN
29 carbohydrate metabolic disorder 9.9 ABCC8 G6PC
30 poland syndrome 9.8
31 septooptic dysplasia 9.8
32 costello syndrome 9.8
33 enterocolitis 9.8
34 galactokinase deficiency 9.8
35 retinitis pigmentosa 9.8
36 insulin-like growth factor i 9.8
37 leber congenital amaurosis 4 9.8
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
39 drug-induced hepatitis 9.8
40 neonatal diabetes mellitus 9.8
41 cholestasis 9.8
42 turner syndrome 9.8
43 retinitis 9.8
44 hepatoblastoma 9.8
45 perinatal necrotizing enterocolitis 9.8
46 hypopituitarism 9.8
47 degos 'en cocarde' erythrokeratoderma 9.8
48 diabetes mellitus, noninsulin-dependent 9.8 ABCC8 FASN G6PC GCK PCK2

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hyperinsulinemic Hypoglycemia, Familial, 3:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
2 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
3 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
4 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
5 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
6 hyperinsulinemic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000825
7 fasting hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008283
8 recurrent hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001988
9 abnormality of the autonomic nervous system 59 32 very rare (1%) Very rare (<4-1%) HP:0002270
10 abnormal c-peptide level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030794
11 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
12 hand tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002378
13 diabetes mellitus 32 HP:0000819
14 intellectual disability 32 HP:0001249
15 hypoglycemic seizures 32 HP:0002173
16 abnormality of nervous system physiology 59 Very rare (<4-1%)
17 hypoglycemic coma 32 HP:0001325

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 viability GR00055-A-2 10.69 AURKA
2 Decreased viability GR00173-A 10.69 AURKB
3 Decreased viability GR00221-A-1 10.69 AURKA AURKB GCK PCK2 FASN
4 Decreased viability GR00221-A-2 10.69 AURKA AURKB GCK PCK2 FASN
5 Decreased viability GR00221-A-3 10.69 GCK
6 Decreased viability GR00221-A-4 10.69 AURKA AURKB GCK PCK2
7 Decreased viability GR00231-A 10.69 AURKA GCK
8 Decreased viability GR00402-S-2 10.69 AURKA AURKB GCK PCK2 FASN
9 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 AURKA AURKB PTEN
10 Synthetic lethal with c-Myc after tamoxifen stimulation GR00215-A 8.92 ABCC8 FASN MIR7-3HG PTEN

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia, Familial, 3

Search Clinical Trials , 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:

41
Brain, Pancreas, Kidney, Testes, Spleen, Pancreatic Islet, Prostate

Publications for Hyperinsulinemic Hypoglycemia, Familial, 3

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 3:

(show top 50) (show all 307)
# Title Authors Year
1
Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. ( 29151084 )
2018
2
CORRIGENDUM FOR &amp;quot;Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2&amp;quot;. ( 29538671 )
2018
3
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes. ( 29044608 )
2018
4
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. ( 29907798 )
2018
5
Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism. ( 29077992 )
2018
6
Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism. ( 29425029 )
2018
7
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2. ( 29329447 )
2018
8
Genetic characteristics of patients with congenital hyperinsulinism. ( 29750770 )
2018
9
Ketotic Hypoglycemia in Children with Previous Transient Congenital Hyperinsulinism. ( 29503277 )
2018
10
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. ( 29417725 )
2018
11
Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death. ( 29558846 )
2018
12
Continuous Flash Glucose Monitoring in children with Congenital Hyperinsulinism; first report on accuracy and patient experience. ( 29599801 )
2018
13
Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. ( 29902804 )
2018
14
18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation. ( 29116340 )
2018
15
Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation. ( 29176012 )
2018
16
Congenital hyperinsulinism and evolution to sulfonylurea-responsive diabetes later in life due to a novel homozygous p.L171F <i> <i>ABCC8</i> </i> mutation. ( 29739729 )
2018
17
Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants. ( 30026763 )
2018
18
The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study. ( 30029695 )
2018
19
Congenital hyperinsulinism treated by surgical resection of the hyperplastic lesion which had been preoperatively diagnosed by 18F-DOPA PET examination in Japan: a nationwide survey. ( 30076450 )
2018
20
Continuous Intragastric Dextrose: A Therapeutic Option for Refractory Hypoglycemia in Congenital Hyperinsulinism. ( 30086540 )
2018
21
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". ( 30097611 )
2018
22
Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism. ( 30186238 )
2018
23
Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia. ( 30246418 )
2018
24
The effect of hypoglycaemia on neurocognitive outcome in children and adolescents with transient or persistent congenital hyperinsulinism. ( 30246438 )
2018
25
Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide. ( 30247666 )
2018
26
The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism. ( 30311139 )
2018
27
Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. ( 30343978 )
2018
28
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions. ( 30386300 )
2018
29
Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes. ( 30462810 )
2018
30
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism? ( 29127764 )
2017
31
Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study. ( 28740482 )
2017
32
Congenital Hyperinsulinism. ( 29131920 )
2017
33
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation. ( 28242437 )
2017
34
Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism. ( 28787272 )
2017
35
Pancreatic uptake and radiation dosimetry of 6-[18F]fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism. ( 29117181 )
2017
36
Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria. ( 28752386 )
2017
37
Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry. ( 28701683 )
2017
38
Clinical practice guidelines for congenital hyperinsulinism. ( 28804205 )
2017
39
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism. ( 28491926 )
2017
40
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. ( 28605545 )
2017
41
Images from<sup>18</sup>F-DOPA Scan in Congenital Hyperinsulinism: Not Always a Clue for Diagnosis. ( 29242734 )
2017
42
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy. ( 29246172 )
2017
43
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
44
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism. ( 29241206 )
2017
45
Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia. ( 28597971 )
2017
46
Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9. ( 28600547 )
2017
47
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation. ( 28328534 )
2017
48
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report. ( 28439221 )
2017
49
Congenital Hyperinsulinism: Diagnosis and Treatment Update. ( 29280746 )
2017
50
Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years. ( 28163940 )
2017

Variations for Hyperinsulinemic Hypoglycemia, Familial, 3

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

75
# 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

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

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 GCK NM_000162.3(GCK): c.1363G> A (p.Val455Met) single nucleotide variant Pathogenic rs104894012 GRCh37 Chromosome 7, 44184770: 44184770
2 GCK NM_000162.3(GCK): c.1363G> A (p.Val455Met) single nucleotide variant Pathogenic rs104894012 GRCh38 Chromosome 7, 44145171: 44145171
3 GCK NM_000162.3(GCK): c.1367C> T (p.Ala456Val) single nucleotide variant Pathogenic rs104894014 GRCh37 Chromosome 7, 44184766: 44184766
4 GCK NM_000162.3(GCK): c.1367C> T (p.Ala456Val) single nucleotide variant Pathogenic rs104894014 GRCh38 Chromosome 7, 44145167: 44145167
5 GCK NM_000162.3(GCK): c.641A> G (p.Tyr214Cys) single nucleotide variant Pathogenic rs104894015 GRCh37 Chromosome 7, 44189397: 44189397
6 GCK NM_000162.3(GCK): c.641A> G (p.Tyr214Cys) single nucleotide variant Pathogenic rs104894015 GRCh38 Chromosome 7, 44149798: 44149798
7 GCK GCK, VAL91LEU undetermined variant Pathogenic
8 GCK NM_000162.3(GCK): c.1361_1363dup (p.Ala454_Val455insAla) duplication Pathogenic GRCh38 Chromosome 7, 44145171: 44145173
9 GCK NM_000162.3(GCK): c.1361_1363dup (p.Ala454_Val455insAla) duplication Pathogenic GRCh37 Chromosome 7, 44184770: 44184772
10 GCK NM_000162.3(GCK): c.1165G> C (p.Val389Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 44145585: 44145585
11 GCK NM_000162.3(GCK): c.1165G> C (p.Val389Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 44185184: 44185184

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

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

# Name GO ID Score Top Affiliating Genes
1 regulation of cytokinesis GO:0032465 9.48 AURKA AURKB
2 anaphase-promoting complex-dependent catabolic process GO:0031145 9.46 AURKA AURKB
3 mammary gland development GO:0030879 9.43 FASN NTN1
4 cellular response to insulin stimulus GO:0032869 9.43 GCK PCK2 PTEN
5 response to zinc ion GO:0010043 9.4 ABCC8 PTEN
6 cellular glucose homeostasis GO:0001678 9.37 ABCC8 GCK
7 spindle organization GO:0007051 9.32 AURKA AURKB
8 cellular response to leptin stimulus GO:0044320 9.16 GCK PTEN
9 glucose 6-phosphate metabolic process GO:0051156 8.96 G6PC GCK
10 anterior/posterior axon guidance GO:0033564 8.62 NTN1 UNC5B

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 9.16 AURKA AURKB
2 phosphotransferase activity, alcohol group as acceptor GO:0016773 8.96 G6PC GCK
3 histone serine kinase activity GO:0035174 8.62 AURKA AURKB

Sources for Hyperinsulinemic Hypoglycemia, Familial, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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