MCID: HYP060
MIFTS: 56

Hyperinsulinism malady

Summaries for Hyperinsulinism

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63Wikipedia, 32MalaCards
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Wikipedia:63 Hyperinsulinism refers to an above normal level of insulin in the blood of a person or animal. Normal... more...

MalaCards: Hyperinsulinism, also known as hyperinsulinemia, is related to familial hyperinsulinism and pancreatitis. An important gene associated with Hyperinsulinism is GLUD1 (glutamate dehydrogenase 1), and among its related pathways are ATP sensitive Potassium channels and Reversible Hydration of Carbon Dioxide. The compounds estrogen and norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include ovary, pancreas and testes, and related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Aliases & Classifications for Hyperinsulinism

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT
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Aliases & Descriptions:

hyperinsulinism 8 10 44 60
hyperinsulinemia 8 44
hyperinsulinism nos 8


External Ids:

Disease Ontology8 DOID:2018
MeSH34 D006946

Related Diseases for Hyperinsulinism

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17GeneCards, 18GeneDecks
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Diseases in the Familial Hyperinsulinism family:

hyperinsulinism Abcc8-Related Hyperinsulinism
Kcnj11-Related Hyperinsulinism Gck-Related Hyperinsulinism
Glud1-Related Hyperinsulinism Hadh-Related Hyperinsulinism
Hnf4a-Related Hyperinsulinism

Diseases related to Hyperinsulinism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 232)
idRelated DiseaseScoreTop Affiliating Genes
1familial hyperinsulinism31.1KCNJ11, GCK, HADH, GLUD1, ABCC8
2pancreatitis30.9INS, SST
3hypoglycemia30.8GCK, HNF4A, LSL, GNRH1, HADH, GHRL
4obesity30.8KCNJ5, KCNJ11, GCK, HNF1A, HNF4A, LSL
5hyperandrogenism30.5LSL, GNRH1, SHBG, IGFBP1, INS, INSR
6diabetes mellitus30.5SST, IGFBP1, INS, INSR, ABCC8, SHBG
7polycystic ovary syndrome30.5GNRH1, GHRL, SHBG, IGFBP1, INS, INSR
8hyperinsulinism-hyperammonemia syndrome30.4GLUD1
9hypertension30.4INS, INSR
10hepatitis30.3GLUD1, IGFBP1, HNF4A
11insulinoma30.3KCNJ11, GCK, HNF1A, HNF4A, UCP2, GHRL
123-hydroxyacyl-coa dehydrogenase deficiency30.2HADH
13beckwith-wiedemann syndrome30.1ABCC8
14ovarian disease30.1GNRH1, SHBG, IGFBP1
15gestational diabetes30.1INSR, ABCC8, INS, IGFBP1, KCNJ11, GCK
16type 2 diabetes mellitus30.1KCNJ5, KCNJ11, ABCC8, GCK, HNF1A, HNF4A
17neonatal diabetes mellitus30.0KCNJ5, KCNJ11, GCK, INS, ABCC8
18essential hypertension30.0INSR, INS, SHBG
19anorexia nervosa30.0LSL, GHRL, SHBG, IGFBP1
20coronary artery disease30.0KCNJ5, GHRL, IGFBP1, INS, INSR
21hyperglycemia30.0KCNJ11, GCK, HNF1A, HNF4A, LSL, UCP2
22adenoma30.0HNF1A, HNF4A, GNRH1, GHRL, SHBG, SST
23lipodystrophy30.0INSR, INS, LSL
24myocardial infarction30.0KCNJ5, LSL, GHRL, SHBG, IGFBP1
25turner syndrome29.7GNRH1
26protein-energy malnutrition29.7IGFBP1, LSL
27hyperinsulinemic hypoglycemia29.7SST, INS, ABCC8
28congenital generalized lipodystrophy type 229.7INSR, INS, LSL
29maturity-onset diabetes of the young29.7INS, HNF4A, HNF1A, GCK, KCNJ11
30hepatoblastoma29.7HNF1A, HNF4A, SHBG, INSR
31pancreatic cancer29.7HNF4A, UCP2, SST, INS
32acanthosis nigricans29.7SHBG, INS, INSR
33multiple sclerosis29.7GLUD1, UCP2, LSL
34anovulation29.7GNRH1, GHRL, SHBG, IGFBP1, INS
35donohue syndrome29.7INSR, INS
36atherosclerosis29.7HNF4A, LSL, UCP2, GHRL, SHBG, INS
37epilepsy syndrome29.7KCNJ5, KCNJ11, GHRL, SHBG, GLUD1, GLUL
38glucose intolerance29.7GCK, LSL, GHRL, SHBG, IGFBP1, INS
39hyperaldosteronism29.7KCNJ5
40colon cancer29.7GLUL, LSL, HNF4A, HNF1A
41hypokalemia29.7INS
42amenorrhea29.7GNRH1, SHBG, INS
43glycogen storage disease29.7HNF1A
44uremia29.7LSL, IGFBP1, INSR
45morbid obesity29.7INS, GHRL, LSL
46hypothyroidism29.7LSL, GHRL, SHBG
47hyperuricemia29.7INS, GCK
48liver cirrhosis29.7HNF4A, LSL, SST, GLUD1, GLUL, INSR
49endometrial carcinoma29.7IGFBP1, GNRH1, HNF4A
50acromegaly29.7LSL, GNRH1, GHRL, SHBG, SST, IGFBP1

Graphical network of the top 20 diseases related to Hyperinsulinism:



Diseases related to hyperinsulinism

Clinical Features for Hyperinsulinism

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Drugs & Therapeutics for Hyperinsulinism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hyperinsulinism

Drug clinical trials:

Search ClinicalTrials for Hyperinsulinism

Search NIH Clinical Center for Hyperinsulinism

Search CenterWatch for Hyperinsulinism

Genetic Tests for Hyperinsulinism

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Anatomical Context for Hyperinsulinism

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32MalaCards
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MalaCards organs/tissues related to Hyperinsulinism:

32
Ovary, Pancreas, Testes, Pancreatic islet, B cells, Heart, Brain, Colon, Liver, Bone, Fetal brain

Animal Models for Hyperinsulinism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hyperinsulinism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.4KCNJ11, GCK, HADH, GLUD1, ABCC8
2MP:000536710.2INSR, INS, HADH, GNRH1, HNF1A, GCK
3MP:000537010.0GCK, HNF1A, HNF4A, GNRH1, IGFBP1, INS
4MP:000537610.0ABCC8, KCNJ11, GCK, HNF1A, HNF4A, GNRH1
5MP:00053789.9KCNJ11, GCK, HNF1A, HNF4A, GNRH1, UCP2
6MP:00053759.9KCNJ11, HNF1A, HADH, GHRL, INS, INSR

Publications for Hyperinsulinism

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50PubMed
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Articles related to Hyperinsulinism:

(show top 50)    (show all 530)
idTitleAuthorsYear
1
A dominant ABCC8-related hyperinsulinism: familial case ReportMoreira et al. ABCC8-related hyperinsulinism. (23301914)
2013
2
Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. (23261959)
2013
3
A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1. (23903354)
2013
4
Overexpression of monocarboxylate transporter-1 (SLC16A1) in mouse pancreatic I^-cells leads to relative hyperinsulinism during exercise. (22522610)
2012
5
Galactokinase deficiency in a patient with congenital hyperinsulinism. (23430910)
2012
6
Techniques in pediatric surgery: congenital hyperinsulinism. (21325787)
2011
7
Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the I^-cell sulfonylurea receptor SUR1. (21536946)
2011
8
Surgical management of congenital hyperinsulinism of infancy. (21186005)
2011
9
Congenital hyperinsulinism and neonatal diabetes mellitus. (20878479)
2010
10
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. (19475716)
2009
11
Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. (17236890)
2007
12
Type 2 diabetes: hypoinsulinism, hyperinsulinism, or both? (17407388)
2007
13
Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies. (17466004)
2007
14
A novel mutation associated with congenital hyperinsulinism. (17597441)
2007
15
Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion. (16403819)
2006
16
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. (16416420)
2006
17
The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography. (16684819)
2006
18
Massive insulin secretion in response to anaerobic exercise in exercise-induced hyperinsulinism. (16308838)
2005
19
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. (15562009)
2005
20
Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p. (15645695)
2004
21
A little bit of everything: molecular genetics of congenital hyperinsulinism. (12469235)
2003
22
Long-term follow-up of 114 patients with congenital hyperinsulinism. (12824865)
2003
23
Additive effects of insulin-sensitizing and anti-androgen treatment in young, nonobese women with hyperinsulinism, hyperandrogenism, dyslipidemia, and anovulation. (12050266)
2002
24
Insulin gene variable number of tandem repeat genotype and the low birth weight, precocious pubarche, and hyperinsulinism sequence. (11739440)
2001
25
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. (10973248)
2000
26
Sensitization to insulin in adolescent girls to normalize hirsutism, hyperandrogenism, oligomenorrhea, dyslipidemia, and hyperinsulinism after precocious pubarche. (11061495)
2000
27
Effect of opioid blockade on insulin and growth hormone (GH) secretion in patients with polycystic ovary syndrome: the heterogeneity of impaired GH secretion is related to both obesity and hyperinsulinism. (9935127)
1999
28
Hyperinsulinism in infants and children. (9130925)
1997
29
Role of initial near total (95%) pancreatectomy in persistent neonatal hyperinsulinism (PNH). (8740129)
1996
30
Familial hyperinsulinism]. (7637980)
1995
31
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews. (7633448)
1995
32
High-fructose feeding elicits insulin resistance, hyperinsulinism, and hypertension in normal mongrel dogs. (8144215)
1994
33
Diabetes in pregnancy: fetal macrosomia, hyperinsulinism, and islet hyperplasia in the offspring of rats subjected to temporary protein-energy malnutrition early in life. (8108195)
1993
34
Glucose metabolism in a term infant with transient hyperinsulinism and high carbohydrate intake. (8482287)
1993
35
A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism. (1421899)
1992
36
Hyperinsulinism and the coronary syndrome]. (1494868)
1992
37
Growth hormone and somatomedin-C secretion in patients with polycystic ovarian disease. Their relationships with hyperinsulinism and hyperandrogenism. (2110544)
1990
38
Perinatal hyperinsulinism and perinatal obesity as risk factors for hyperinsulinaemia in later life. (2279518)
1990
39
Somatostatin analogue in short term management of hyperinsulinism. (2567149)
1989
40
The surgical management of hyperinsulinism in infancy due to nesidioblastosis. (2837563)
1988
41
The clinical relevance of pancreatic B-cell hyperplasia, hyperinsulinism and insulin insensitivity in non-insulin dependent diabetes mellitus. (3323021)
1987
42
Medical management of canine hyperinsulinism. (3894306)
1985
43
Osmotic resistance of rat erythrocytes in hyperinsulinism and streptozotocin-diabetes as compared with cholesterol and sialic acid contents of erythrocyte ghosts. (6532939)
1984
44
Failure of chronic experimental hyperinsulinism to alter insulin binding to hypothalamic receptors in the rat. (6385595)
1984
45
Surgical treatment of organic hyperinsulinism in infancy. Surgical procedure in the absence of a demonstrable insulinoma and a peroperative diagnosis of nesidioblastosis. (6328789)
1984
46
Hyperinsulinism in asphyxiated and small-for-dates infants with hypoglycaemia. (6146862)
1984
47
Hyperinsulinism in asphyxiated and small-for-dates infants with hypoglycaemia. (6149357)
1984
48
Hyperinsulinism and insulin resistance in polycystic ovarian syndrome: a verification using oral glucose, I.V. Glucose and tolbutamide. (6224386)
1983
49
Correlation of hyperandrogenism with hyperinsulinism in polycystic ovarian disease. (7350174)
1980
50
Nasal stuffiness with discharge or vasomotor rhinitis and hyperinsulinism. (5897837)
1965

Genetic Variations for Hyperinsulinism

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Expression for genes affiliated with Hyperinsulinism

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperinsulinism

Search GEO for disease gene expression data for Hyperinsulinism.

Pathways for genes affiliated with Hyperinsulinism

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53Reactome, 29KEGG, 12EMD Millipore, 49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN, 4Cell Signaling Technology
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Pathways related to Hyperinsulinism according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4ABCC8, KCNJ11
2
Hide members
10.4GLUL, GLUD1
3
Dichloroethylene metabolism
Hide members
10.4HNF4A, HNF1A
4
Hide members
10.4INSR, INS
5
Hide members
10.4KCNJ11, INS, ABCC8
610.4ABCC8, KCNJ11, KCNJ5
710.4KCNJ5, KCNJ11, ABCC8
8
Hide members
10.4ABCC8, KCNJ11, KCNJ5
910.3GCK, HNF4A, IGFBP1
1010.3KCNJ11, GCK, INS, ABCC8
11
Hide members
10.3KCNJ5, KCNJ11, GLUL, ABCC8
12
Hide members
10.3GCK, HNF1A, HNF4A, INS
13
Hide members
10.3INSR, INS, HNF4A, GCK
1410.3INS, IGFBP1, UCP2, HNF1A
1510.3IGFBP1, GLUL, INS, INSR
1610.3HNF1A, HNF4A, GLUD1, INS, INSR
17
Hide members
10.2HSD17B10, KCNJ11, GCK, UCP2, HADH, GLUD1
18
Hide members
10.2KCNJ11, GCK, HNF1A, HNF4A, INS, INSR
1910.1ABCC8, KCNJ11, GCK, HNF1A, HNF4A, UCP2

Compounds for genes affiliated with Hyperinsulinism

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience, 2BitterDB
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Compounds related to Hyperinsulinism according to GeneCards/GeneDecks:

(show top 50)    (show all 190)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8GLUL
2norepinephrine44 11 2412.7KCNJ5, GNRH1, UCP2, GLUL
3sulfonylurea4410.7KCNJ5, KCNJ11, GCK, HNF1A, GLUD1, INS
4katp4410.6KCNJ11, ABCC8, GCK, HADH, GLUD1, INS
5glimepiride44 49 1112.6KCNJ11, INS, ABCC8, INSR, KCNJ5
6glipizide44 1111.6SST, INS, ABCC8, KCNJ5
7tolbutamide44 49 28 1113.6KCNJ5, ABCC8, GLUD1, SST, HNF1A, GCK
8preproinsulin4410.6GCK, INSR, UCP2, INS
9phosphoenolpyruvate44 1111.6GLUD1, GCK, HNF1A, HNF4A, IGFBP1, GLUL
10gnrh4410.6GHRL, GNRH1, IGFBP1, SHBG
11clomiphene citrate4410.6SHBG, INSR, IGFBP1, GNRH1, INS
12acth4410.5IGFBP1, SST, GHRL, GNRH1, LSL
13repaglinide44 49 1112.5ABCC8, INS, KCNJ11, KCNJ5
14dehydroepiandrosterone sulfate4410.5GNRH1, SHBG, IGFBP1, INS, GHRL, LSL
15diazoxide44 59 28 1113.5KCNJ11, GCK, HADH, SHBG, SST, GLUD1
16beta-hydroxybutyrate4410.5IGFBP1, LSL, INS, GLUD1
17streptozotocin4410.5SST, GCK, INSR, INS, UCP2
18octreotide44 59 28 1113.5INS, SST, INSR, GHRL, GNRH1, LSL
19valproate4410.5LSL, SHBG, IGFBP1, GLUD1, SST
20rosiglitazone44 49 28 11 2414.5SHBG, LSL, UCP2, GHRL, INSR, INS
21potassium44 11 2412.5HNF1A, UCP2, GHRL, GLUD1, ABCC8, GCK
22glycerol44 11 2412.5INS, GLUL, GLUD1, IGFBP1, HNF4A, SHBG
23fatty acid4410.5GLUD1, HNF4A, ABCC8, HSD17B10, GCK, HNF1A
24carbohydrates4410.5LSL, INSR, INS, SHBG, GHRL, UCP2
25hydrocortisone44 2 59 1113.4LSL, GHRL, SHBG, SST, IGFBP1, GLUL
26glycogen44 2411.4INSR, GLUL, IGFBP1, UCP2, INS, HNF4A
27dexamethasone44 49 28 1113.4INSR, INS, GLUL, GLUD1, SHBG, GHRL
28metformin44 49 1112.4ABCC8, INSR, INS, IGFBP1, SHBG, GHRL
29thyroxine44 2411.4LSL, GNRH1, UCP2, GHRL, SHBG, INSR
30epinephrine44 11 2412.4INSR, LSL, GNRH1, INS, GHRL, IGFBP1
31glutamine4410.4HNF1A, HNF4A, GCK, KCNJ11, UCP2, INSR
32glucose4410.4LSL, HNF1A, GCK, KCNJ11, KCNJ5, UCP2
33alanine4410.4INS, GLUL, GLUD1, SHBG, INSR, GCK
34c-peptide4410.4GCK, KCNJ11, HNF1A, HNF4A, LSL, GHRL
35pegvisomant44 1111.4GLUL, GHRL, IGFBP1, SST
36leucine4410.3HNF4A, HNF1A, GCK, KCNJ11, HADH, IGFBP1
37cholesterol44 28 11 2413.3IGFBP1, SHBG, ABCC8, UCP2, HNF4A, HNF1A
38glibenclamide44 28 49 5913.3INS, ABCC8, INSR, KCNJ11, KCNJ5
39lactate4410.3SHBG, GHRL, UCP2, GNRH1, LSL, GCK
40creatinine4410.3IGFBP1, INS, INSR, SHBG, GHRL, GNRH1
41testosterone44 59 11 2413.3SST, GNRH1, KCNJ5, HSD17B10, IGFBP1, HNF4A
42oxygen44 2411.3GLUD1, GCK, KCNJ5, LSL, UCP2, GHRL
43acipimox44 2811.3SST, INS, LSL, GHRL
44intralipid4410.3INS, SST, LSL, GHRL
45glutamate4410.3INS, GLUL, GLUD1, IGFBP1, SST, GHRL
46arginine4410.2IGFBP1, KCNJ11, GCK, ABCC8, INSR, INS
47aspartate4410.2GLUD1, SHBG, GNRH1, LSL, KCNJ11, GLUL
48lipid4410.2HNF4A, ABCC8, SHBG, GHRL, INS, GLUL
492-deoxyglucose44 1111.1GCK, GHRL, INSR, INS, IGFBP1
50gliclazide44 49 1112.0KCNJ11, INSR, ABCC8, INS

GO Terms for genes affiliated with Hyperinsulinism

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16Gene Ontology
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Cellular components related to Hyperinsulinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:03477410.4INS, GHRL
2voltage-gated potassium channel complexGO:00807610.1ABCC8, KCNJ11, KCNJ5

Biological processes related to Hyperinsulinism according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glycolysisGO:04582110.6INSR, INS, GCK
2positive regulation of insulin secretionGO:03202410.6GLUL, GLUD1, GHRL, GCK
3endocrine pancreas developmentGO:03101810.6GCK, HNF1A, HNF4A, INS
4positive regulation of respiratory burstGO:06026710.6INSR, INS
5regulation of insulin secretionGO:05079610.5ABCC8, INS, HNF4A, HNF1A, GCK, KCNJ11
6glucose homeostasisGO:04259310.5GCK, HNF1A, HNF4A, INS, INSR
7glutamate catabolic processGO:00653810.5GLUL, GLUD1
8positive regulation of glycogen biosynthetic processGO:04572510.5GCK, INS, INSR
9response to glucose stimulusGO:00974910.5HNF1A, HNF4A, UCP2, GLUL
10cellular response to insulin stimulusGO:03286910.4INSR, UCP2, GCK
11negative regulation of gluconeogenesisGO:04572110.4INS, GCK
12synaptic transmissionGO:00726810.4KCNJ5, KCNJ11, SST, GLUL, ABCC8
13glucose metabolic processGO:00600610.3INS, GHRL, KCNJ11
14small molecule metabolic processGO:04428110.3HSD17B10, KCNJ11, GCK, UCP2, HADH, GLUD1
15G-protein coupled receptor signaling pathwayGO:00718610.2GHRL, SST, INS, INSR
16energy reserve metabolic processGO:00611210.1ABCC8, INS, KCNJ11

Molecular functions related to Hyperinsulinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:00515910.4INSR, INS
2hormone activityGO:00517910.2INS, SST, GNRH1
3NAD+ bindingGO:07040310.1GLUD1, HADH

Products for genes affiliated with Hyperinsulinism

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  • Antibodies
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Sources for Hyperinsulinism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet