MCID: HYP601
MIFTS: 39

Hyperinsulinemic Hypoglycemia, Familial, 3

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Hyperinsulinemic Hypoglycemia, Familial, 3

MalaCards integrated aliases for Hyperinsulinemic Hypoglycemia, Familial, 3:

Name: Hyperinsulinemic Hypoglycemia, Familial, 3 53 13 69
Hhf3 53 49 71
Hyperinsulinemic Hypoglycemia Familial 3 49 28
Congenital Hyperinsulinism 71 69
Hyperinsulinemic Hypoglycemia Due to Glucokinase Deficiency 55
Persistent Hyperinsulinemic Hypoglycemia of Infancy 71
Hyperinsulinism Due to Glucokinase Deficiency 55
Familial Hyperinsulinemic Hypoglycemia 3 71
Phhi 71

Characteristics:

Orphanet epidemiological data:

55
hyperinsulinism due to glucokinase deficiency
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see hhf1 )


HPO:

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


Classifications:



External Ids:

OMIM 53 602485
Orphanet 55 ORPHA79299
ICD10 via Orphanet 33 E16.1
MedGen 39 C1865290

Summaries for Hyperinsulinemic Hypoglycemia, Familial, 3

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Hyperinsulinemic Hypoglycemia, Familial, 3, also known as hhf3, is related to hyperinsulinism and hypoglycemia, and has symptoms including hyperinsulinemic hypoglycemia, fatigue and seizures. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 3 is GCK (Glucokinase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Type II diabetes mellitus. Affiliated tissues include brain.

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 hyperinsulinism 30.9 ABCC8 GCK
2 hypoglycemia 29.7 ABCC8 GCK
3 monogenic diabetes 29.2 ABCC8 GCK
4 hyperinsulinemic hypoglycemia 29.2 ABCC8 GCK
5 neonatal diabetes mellitus 29.2 ABCC8 GCK
6 diabetes mellitus 29.0 ABCC8 GCK
7 hyperglycemia 29.0 ABCC8 GCK
8 maturity-onset diabetes of the young 28.9 ABCC8 GCK
9 hyperinsulinism due to glucokinase deficiency 12.4
10 hyperinsulinemic hypoglycemia, familial, 5 11.9
11 hyperinsulinemic hypoglycemia, familial, 1 11.9
12 hyperinsulinemic hypoglycemia, familial, 4 11.6
13 hyperinsulinemic hypoglycemia, familial, 6 11.3
14 hyperinsulinemic hypoglycemia, familial, 2 11.2
15 pancreatitis 10.3
16 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
17 hepatitis 10.0
18 beckwith-wiedemann syndrome 9.9
19 acute insulin response 9.9
20 hypertrophic cardiomyopathy 9.9
21 hemihyperplasia, isolated 9.8
22 munchausen by proxy 9.8 ABCC8 GCK
23 factitious disorder 9.8 ABCC8 GCK
24 pancreatic agenesis 9.8 ABCC8 GCK
25 endocrine pancreas disease 9.8 ABCC8 GCK
26 diabetes mellitus, permanent neonatal 9.8 ABCC8 GCK
27 glucose metabolism disease 9.7 ABCC8 GCK
28 insulinoma 9.7 ABCC8 GCK
29 poland syndrome 9.7
30 septooptic dysplasia 9.7
31 costello syndrome 9.7
32 enterocolitis 9.7
33 galactokinase deficiency 9.7
34 retinitis pigmentosa 9.7
35 insulin-like growth factor i 9.7
36 leber congenital amaurosis 4 9.7
37 autoinflammation with infantile enterocolitis 9.7
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
39 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.7
40 drug-induced hepatitis 9.7
41 allergic hypersensitivity disease 9.7
42 cholestasis 9.7
43 retinitis 9.7
44 hepatoblastoma 9.7
45 perinatal necrotizing enterocolitis 9.7
46 hypopituitarism 9.7
47 streptococcal group a invasive disease 9.7
48 diabetes mellitus, noninsulin-dependent 9.4 ABCC8 GCK

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:

53
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:

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperinsulinemic hypoglycemia 55 31 Very frequent (99-80%) HP:0000825
2 fatigue 55 Frequent (79-30%)
3 seizures 55 Frequent (79-30%)
4 muscle weakness 55 Frequent (79-30%)
5 diabetes mellitus 31 HP:0000819
6 intellectual disability 31 HP:0001249
7 type ii diabetes mellitus 55 Occasional (29-5%)
8 coma 55 Occasional (29-5%)
9 fasting hyperinsulinemia 55 Very frequent (99-80%)
10 recurrent hypoglycemia 55 Very frequent (99-80%)
11 hypoglycemic seizures 31 HP:0002173
12 abnormality of the autonomic nervous system 55 Very rare (<4-1%)
13 abnormality of nervous system physiology 55 Very rare (<4-1%)
14 abnormal c-peptide level 55 Very frequent (99-80%)
15 hypoketotic hypoglycemia 55 Very frequent (99-80%)
16 hand tremor 55 Frequent (79-30%)
17 hypoglycemic coma 31 HP:0001325

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 28 GCK

Anatomical Context for Hyperinsulinemic Hypoglycemia, Familial, 3

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

38
Brain

Publications for Hyperinsulinemic Hypoglycemia, Familial, 3

Articles related to Hyperinsulinemic Hypoglycemia, Familial, 3:

(show top 50) (show all 273)
# Title Authors Year
1
18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation. ( 29116340 )
2018
2
Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. ( 29151084 )
2018
3
Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism. ( 29077992 )
2018
4
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2. ( 29329447 )
2018
5
Sirolimus therapy for congenital hyperinsulinism in an infant with a novel homozygous KCNJ11 mutation. ( 29176012 )
2018
6
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes. ( 29044608 )
2018
7
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. ( 29417725 )
2018
8
Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism. ( 29425029 )
2018
9
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
10
Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria. ( 28752386 )
2017
11
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
12
Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report. ( 28439221 )
2017
13
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism? ( 29127764 )
2017
14
A Novel Intragenic SLC16A1 Mutation Associated With Congenital Hyperinsulinism. ( 28491926 )
2017
15
Congenital hyperinsulinism: diagnostic and management challenges in a developing country - case report. ( 29301189 )
2017
16
Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. ( 28605545 )
2017
17
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
18
Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9. ( 28600547 )
2017
19
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism. ( 29241206 )
2017
20
Clinical practice guidelines for congenital hyperinsulinism. ( 28804205 )
2017
21
Congenital Hyperinsulinism. ( 29131920 )
2017
22
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
23
Congenital Hyperinsulinism: Diagnosis and Treatment Update. ( 29280746 )
2017
24
Images from<sup>18</sup>F-DOPA Scan in Congenital Hyperinsulinism: Not Always a Clue for Diagnosis. ( 29242734 )
2017
25
Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI). ( 28532504 )
2017
26
Pancreatic uptake and radiation dosimetry of 6-[18F]fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism. ( 29117181 )
2017
27
Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism. ( 28787272 )
2017
28
Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia. ( 28597971 )
2017
29
Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study. ( 28740482 )
2017
30
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. ( 27908292 )
2016
31
Iatrogenic Necrolytic Migratory Erythema in an Infant with Congenital Hyperinsulinism. ( 26648573 )
2016
32
Diagnosis of ABCC8 congenital hyperinsulinism of infancy in a 20 year-old man evaluated for factitious hypoglycemia. ( 27754802 )
2016
33
Successful treatment of a newborn with congenital hyperinsulinism having a novel heterozygous mutation in the ABCC8 gene using subtotal pancreatectomy. ( 28757749 )
2016
34
Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. ( 27682711 )
2016
35
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2 (UCP2). ( 27967291 )
2016
36
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. ( 27691052 )
2016
37
Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 Children. ( 28508606 )
2016
38
Clinical and genetic characterization of congenital hyperinsulinism in Spain. ( 27188453 )
2016
39
Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism. ( 26903946 )
2016
40
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. ( 27174046 )
2016
41
A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism. ( 28018462 )
2016
42
A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA). ( 26656609 )
2016
43
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. ( 27173951 )
2016
44
Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease. ( 27334808 )
2016
45
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. ( 26908106 )
2016
46
A NOVEL HOMOZYGOUS MUTATION IN THE KCNJ11 GENE p.F315I OF A NEONATE WITH CONGENITAL HYPERINSULINISM AND SUCCESFUL MANAGEMENT BY SIROLIMUS. ( 27181099 )
2016
47
Fluoxetine induced Hypoglycaemia in a patient with persistent form of Congenital Hyperinsulinism (CHI) on Lanreotide Therapy. ( 27087264 )
2016
48
Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers. ( 26608306 )
2015
49
Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with Costello syndrome: Case report and review of the literature. ( 25668678 )
2015
50
High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. ( 26431509 )
2015

Variations for Hyperinsulinemic Hypoglycemia, Familial, 3

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

71
# 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 45)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC8 NM_001287174.1(ABCC8): c.4310G> A (p.Arg1437Gln) single nucleotide variant Pathogenic rs387906407 GRCh37 Chromosome 11, 17417157: 17417157
2 ABCC8 NM_001287174.1(ABCC8): c.3992-9G> A single nucleotide variant Pathogenic rs151344623 GRCh37 Chromosome 11, 17418602: 17418602
3 ABCC8 ABCC8, IVS, G-A, -1 single nucleotide variant Pathogenic
4 ABCC8 ABCC8, BRANCH POINT, A-G, -20 single nucleotide variant Pathogenic
5 ABCC8 ABCC8, EX35, G-A single nucleotide variant Pathogenic
6 ABCC8 NM_001287174.1(ABCC8): c.4058G> C (p.Arg1353Pro) single nucleotide variant Pathogenic rs28936370 GRCh37 Chromosome 11, 17418527: 17418527
7 ABCC8 NM_001287174.1(ABCC8): c.4261C> T (p.Arg1421Cys) single nucleotide variant Pathogenic rs28938469 GRCh37 Chromosome 11, 17417206: 17417206
8 ABCC8 NM_000352.4(ABCC8): c.4477C> T (p.Arg1493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs28936371 GRCh37 Chromosome 11, 17415881: 17415881
9 ABCC8 NM_001287174.1(ABCC8): c.4519G> A (p.Glu1507Lys) single nucleotide variant Pathogenic rs137852671 GRCh37 Chromosome 11, 17415842: 17415842
10 ABCC8 NM_000352.4(ABCC8): c.560T> A (p.Val187Asp) single nucleotide variant Pathogenic rs137852672 GRCh37 Chromosome 11, 17485004: 17485004
11 ABCC8 NM_000352.4(ABCC8): c.4157_4159delCCT (p.Ser1386del) deletion Pathogenic rs387906408 GRCh37 Chromosome 11, 17417438: 17417440
12 ABCC8 ABCC8, -64C-G single nucleotide variant Pathogenic
13 GCK NM_000162.3(GCK): c.1363G> A (p.Val455Met) single nucleotide variant Pathogenic rs104894012 GRCh37 Chromosome 7, 44184770: 44184770
14 GCK NM_000162.3(GCK): c.1367C> T (p.Ala456Val) single nucleotide variant Pathogenic rs104894014 GRCh37 Chromosome 7, 44184766: 44184766
15 GCK NM_000162.3(GCK): c.641A> G (p.Tyr214Cys) single nucleotide variant Pathogenic rs104894015 GRCh37 Chromosome 7, 44189397: 44189397
16 GCK GCK, VAL91LEU undetermined variant Pathogenic
17 ABCC8 NM_001287174.1(ABCC8): c.2147G> T (p.Gly716Val) single nucleotide variant Pathogenic rs72559723 GRCh37 Chromosome 11, 17448671: 17448671
18 ABCC8 NM_000352.4(ABCC8): c.4198G> A (p.Gly1400Arg) single nucleotide variant Pathogenic/Likely pathogenic rs137852676 GRCh37 Chromosome 11, 17417399: 17417399
19 ABCC8 NM_000352.4(ABCC8): c.4306C> T (p.Arg1436Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922402 GRCh37 Chromosome 11, 17417158: 17417158
20 ABCC8 ABCC8, EX13DEL deletion Pathogenic
21 ABCC8 ABCC8, 1-BP DUP, 512T duplication Pathogenic
22 ABCC8 ABCC8, IVS8, A-G, -1013 single nucleotide variant Pathogenic
23 ABCC8 NM_000352.4(ABCC8): c.3509delT (p.Leu1170Argfs) deletion Pathogenic rs587783169 GRCh37 Chromosome 11, 17426107: 17426107
24 ABCC8 NM_000352.4(ABCC8): c.2857C> T (p.Gln953Ter) single nucleotide variant Pathogenic/Likely pathogenic rs541269678 GRCh38 Chromosome 11, 17407417: 17407417
25 ABCC8 NM_001287174.1(ABCC8): c.2800C> T (p.Arg934Ter) single nucleotide variant Pathogenic/Likely pathogenic rs570388861 GRCh38 Chromosome 11, 17408415: 17408415
26 ABCC8 NM_001287174.1(ABCC8): c.2509C> T (p.Arg837Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72559722 GRCh38 Chromosome 11, 17412716: 17412716
27 ABCC8 NM_001287174.1(ABCC8): c.4163_4165delTCT (p.Phe1388del) deletion Pathogenic rs151344624 GRCh37 Chromosome 11, 17417435: 17417437
28 ABCC8 NM_000352.4(ABCC8): c.4119+1G> A single nucleotide variant Pathogenic rs797045211 GRCh38 Chromosome 11, 17396915: 17396915
29 ABCC8 NM_000352.4(ABCC8): c.2117-1G> A single nucleotide variant Pathogenic rs797045207 GRCh37 Chromosome 11, 17448702: 17448702
30 ABCC8 NM_000352.4(ABCC8): c.563A> G (p.Asn188Ser) single nucleotide variant Pathogenic/Likely pathogenic rs797045213 GRCh38 Chromosome 11, 17463454: 17463454
31 ABCC8 NM_000352.4(ABCC8): c.331G> A (p.Gly111Arg) single nucleotide variant Pathogenic/Likely pathogenic rs761749884 GRCh37 Chromosome 11, 17491729: 17491729
32 ABCC8 NM_000352.4(ABCC8): c.3748C> T (p.Arg1250Ter) single nucleotide variant Pathogenic rs1057516281 GRCh37 Chromosome 11, 17419891: 17419891
33 ABCC8 NM_000352.4(ABCC8): c.1879delC (p.His627Metfs) deletion Pathogenic/Likely pathogenic rs1057516860 GRCh37 Chromosome 11, 17450156: 17450156
34 ABCC8 NM_000352.4(ABCC8): c.1630+1G> T single nucleotide variant Pathogenic rs773306994 GRCh38 Chromosome 11, 17442719: 17442719
35 ABCC8 NM_000352.4(ABCC8): c.584dupA (p.Tyr195Terfs) duplication Pathogenic rs1057517199 GRCh38 Chromosome 11, 17461821: 17461821
36 GCK NM_000162.3(GCK): c.1361_1363dup (p.Ala454_Val455insAla) duplication Pathogenic GRCh38 Chromosome 7, 44145171: 44145173
37 GCK NM_000162.3(GCK): c.1165G> C (p.Val389Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 44145585: 44145585
38 ABCC8 NM_000352.4(ABCC8): c.4450G> A (p.Gly1484Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 17415908: 17415908
39 ABCC8 NM_000352.4(ABCC8): c.4432G> A (p.Gly1478Arg) single nucleotide variant Pathogenic rs72559715 GRCh38 Chromosome 11, 17394379: 17394379
40 ABCC8 NM_000352.4(ABCC8): c.4376T> G (p.Leu1459Arg) single nucleotide variant Pathogenic rs971604271 GRCh37 Chromosome 11, 17416754: 17416754
41 ABCC8 NM_000352.4(ABCC8): c.2992C> T (p.Arg998Ter) single nucleotide variant Pathogenic rs769518471 GRCh37 Chromosome 11, 17428605: 17428605
42 ABCC8 NM_000352.4(ABCC8): c.2295_2307delGAGAGGCCCCGTGinsAA (p.Arg766Serfs) indel Pathogenic GRCh38 Chromosome 11, 17414595: 17414607
43 ABCC8 NM_000352.4(ABCC8): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs139328569 GRCh37 Chromosome 11, 17452386: 17452386
44 ABCC8 NM_000352.4(ABCC8): c.1752delT (p.His584Glnfs) deletion Pathogenic GRCh37 Chromosome 11, 17452426: 17452426
45 ABCC8 NM_000352.4(ABCC8): c.1254_1284dup (p.Met429Terfs) duplication Pathogenic rs768951263 GRCh38 Chromosome 11, 17448564: 17448594

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
Show member pathways
11.83 ABCC8 GCK
2
Show member pathways
10.94 ABCC8 GCK
3 10.27 ABCC8 GCK

GO Terms for Hyperinsulinemic Hypoglycemia, Familial, 3

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

# Name GO ID Score Top Affiliating Genes
1 regulation of insulin secretion GO:0050796 8.96 ABCC8 GCK
2 cellular glucose homeostasis GO:0001678 8.62 ABCC8 GCK

Sources for Hyperinsulinemic Hypoglycemia, Familial, 3

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