MCID: HYP060
MIFTS: 55

Hyperinsulinism malady

Summaries for Hyperinsulinism

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 hyperinsulinism-hyperammonemia syndrome. 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 whole blood, brain and heart, and related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Aliases & Classifications for Hyperinsulinism

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT
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Aliases & Descriptions:

hyperinsulinism 8 10 45 61
hyperinsulinemia 8 45
hyperinsulinism nos 8


External Ids:

Disease Ontology8 DOID:2018
MeSH35 D006946

Related Diseases for Hyperinsulinism

Sources:
17GeneCards, 18GeneDecks
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Diseases in the familial hyperinsulinism family:

hyperinsulinism

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

(show top 50)    (show all 237)
idRelated DiseaseScoreTop Affiliating Genes
1familial hyperinsulinism31.1GCK, KCNJ11, ABCC8, GLUD1, HADH
2hyperinsulinism-hyperammonemia syndrome30.9GLUD1
3hypoglycemia30.8ABCC8, INS, GLUD1, IGFBP1, SST, GHRL
4hyperandrogenism30.6LSL, IGFBP1, GNRH1, SHBG, INSR, INS
5insulin resistance30.6SST, IGFBP1, INS, INSR, ABCC8, GCK
6polycystic ovary syndrome30.5GNRH1, SHBG, GHRL, INS, INSR, IGFBP1
7glucose intolerance30.4INSR, INS, IGFBP1, SHBG, GHRL, LSL
8adenoma30.4INSR, SST, INS, GLUL, SHBG, KCNJ5
93-hydroxyacyl-coa dehydrogenase deficiency30.3HADH
10insulinoma30.3HNF4A, UCP2, GHRL, SST, GLUD1, INS
11beckwith-wiedemann syndrome30.1ABCC8
12gestational diabetes30.1KCNJ11, ABCC8, INSR, INS, GCK, HNF1A
13hepatitis c30.0HNF1A
14neonatal diabetes mellitus30.0ABCC8, INS, GCK, KCNJ5, KCNJ11
15anorexia nervosa30.0GHRL, IGFBP1, LSL, SHBG
16coronary artery disease,30.0INSR, GHRL, KCNJ5, IGFBP1, INS
17growth hormone deficiency30.0LSL, INS, IGFBP1, GHRL
18pancreatic islet cell tumors29.8SST
19turner syndrome29.8GNRH1
20coronary heart disease29.8UCP2, SHBG, INS
21hyperinsulinemic hypoglycemia29.8ABCC8, INS, SST
22congenital generalized lipodystrophy type 229.8INS, LSL, INSR
23hypertriglyceridemia29.8LSL, INSR, SHBG, INS
24acanthosis nigricans29.8INSR, INS, SHBG
25fetal macrosomia29.8INS
26anovulation29.8GNRH1, GHRL, SHBG, IGFBP1, INS
27donohue syndrome29.8INSR, INS
28atherosclerosis29.8UCP2, SHBG, GHRL, LSL, HNF4A, INS
29hypokalemia29.8INS
30amenorrhea29.8GNRH1, INS, SHBG
31uremia29.8IGFBP1, INSR, LSL
32morbid obesity29.8LSL, INS, GHRL
33hyperuricemia29.8INS, GCK
34short stature29.8INS, SHBG, GHRL, GNRH1, IGFBP1
35acromegaly29.8GHRL, SST, LSL, INS, SHBG, IGFBP1
36hyperinsulinism, focal10.7
37hyperinsulinism, diffuse10.4
38n syndrome10.4
39hyperinsulinemic hypoglycemia, familial, 110.2
40somatostatin analog10.2
41abcc8-related hyperinsulinism10.2
42acute insulin response10.2
43hypertrophic cardiomyopathy10.1
44exercise-induced hyperinsulinemic hypoglycemia10.1
45fasting hypoglycemia10.1
46hyperinsulinemic hypoglycemia familial 210.1
47hypercholesterolemia10.1
48lipoprotein lipase deficiency10.1
49usher syndrome10.0
50bod syndrome10.0

Graphical network of the top 20 diseases related to Hyperinsulinism:



Diseases related to hyperinsulinism

Clinical Features for Hyperinsulinism

Drugs & Therapeutics for Hyperinsulinism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Hyperinsulinism

Sources:
33MalaCards
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MalaCards organs/tissues related to Hyperinsulinism:

33
Whole blood, Brain, Heart, Colon, Liver, Pancreas, Ovary, B cells, Fetal brain, Fetal liver, Pancreatic islet

Animal Models for Hyperinsulinism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hyperinsulinism

Sources:
51PubMed
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Articles related to Hyperinsulinism:

(show top 50)    (show all 530)
idTitleAuthorsYear
1
Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes. (23150283)
2013
2
Maternal hyperinsulinism and glycaemic status in the first trimester of pregnancy are associated with the development of pregnancy-induced hypertension and gestational diabetes. (23243013)
2013
3
The heterogeneity of focal forms of congenital hyperinsulinism. (22031516)
2012
4
Successful treatment of congenital hyperinsulinism with long-acting release octreotide. (22048969)
2012
5
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management. (20980454)
2011
6
Congenital hyperinsulinism: current trends in diagnosis and therapy. (21967988)
2011
7
Visualization of the focus in congenital hyperinsulinism by intraoperative sonography. (21186001)
2011
8
On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome. (19895831)
2010
9
Congenital hyperinsulinism with hyperammonaemia. (22315648)
2010
10
Hyperinsulinism in developmental syndromes. (19293578)
2009
11
Novel use of somatostatin receptor scintigraphy in localization of focal congenital hyperinsulinism: promising but fallible. (20020586)
2009
12
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. (18767144)
2009
13
18F]-DOPA positron emission tomography for preoperative localization in congenital hyperinsulinism. (18547951)
2008
14
Correlates between hyperinsulinism and hyperandrogenemia? (18339386)
2008
15
Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence. (18390792)
2008
16
Paraneoplastic hyperinsulinism and secondary hypoglycaemia in a patient with advanced colon cancer: a rare association. (18350640)
2008
17
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. (19065272)
2008
18
Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. (17378627)
2007
19
Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy. (17316607)
2007
20
Insights in congenital hyperinsulinism. (17986831)
2007
21
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. (16380471)
2006
22
Protein-sensitive hypoglycemia without leucine sensitivity in hyperinsulinism caused by K(ATP) channel mutations. (16860127)
2006
23
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism. (16882742)
2006
24
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels. (15963039)
2005
25
A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia. (16151898)
2005
26
Congenital hyperinsulinism. (15916932)
2005
27
Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function. (15998776)
2005
28
The importance of preoperative localisation procedures in organic hyperinsulinism--experience in 67 patients. (15291289)
2004
29
Hyperinsulinism induced by targeted suppression of beta cell KATP channels. (12486236)
2002
30
Effect of feeding on growth hormone response to growth hormone-releasing hormone in polycystic ovarian syndrome: relation with body weight and hyperinsulinism. (11228207)
2001
31
Hyperinsulinism of the newborn. (10805170)
2000
32
Suppression of insulin oversecretion by subcutaneous recombinant human insulin-like growth factor I in children with congenital hyperinsulinism due to defective beta-cell sulfonylurea receptor. (10487673)
1999
33
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. (10447255)
1999
34
Neonatal hyperinsulinism (10490524)
1999
35
Reoperative surgery for organic hyperinsulinism: indications and operative strategy. (9606279)
1998
36
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. (9769320)
1998
37
Effect of glucagon on glucose production, lipolysis, and gluconeogenesis in familial hyperinsulinism. (9701703)
1998
38
Erythrocyte rheological changes in obese patients: influence of hyperinsulinism. (8880347)
1996
39
The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. (7634500)
1995
40
Hyperinsulinism and dyslipidemias as coronary heart disease risk factors in NIDDM. (8249693)
1993
41
Fetal hyperinsulinism in offspring of diabetic mothers. Association with the subsequent development of childhood obesity. (8267335)
1993
42
Total pancreatectomy in a case of nesidioblastosis due to persisting hyperinsulinism following subtotal pancreatectomy. (1904602)
1991
43
Somatostatin analogue in short term management of hyperinsulinism. (3232999)
1988
44
The diagnosis of hyperinsulinism in a child in the absence of hyperinsulinemia. (3528606)
1986
45
Evidence for decreasing prevalence of diabetes mellitus in childhood apparently produced by prevention of hyperinsulinism in the foetus and newborn. (6543177)
1984
46
Neonatal hyperinsulinism after short-term maternal beta sympathomimetic therapy. (6750066)
1982
47
Nursing care for children with hypoglycemia due to hyperinsulinism. (6782408)
1981
48
Canadian contributions towards the comprehension of hyperinsulinism: the first successful excision of an insulinoma. (6251957)
1980
49
Hyperinsulinism and premenstrual tension: report of a case of hyperplasia of the islets of Langerhans. (13258702)
1955
50
Hyperinsulinism and neuromuscular disorders; a consideration of the association of pancreatic adenoma with wasting states. (13032800)
1953

Genetic Variations for Hyperinsulinism

Expression for genes affiliated with Hyperinsulinism

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 12EMD Millipore, 50PharmGKB, 38NCBI BioSystems Database, 52QIAGEN, 4Cell Signaling Technology
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience, 2BitterDB
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Compounds related to Hyperinsulinism according to GeneCards/GeneDecks:

(show top 50)    (show all 190)
idCompoundScoreTop Affiliating Genes
1estrogen4510.8GLUL
2norepinephrine45 11 2412.7KCNJ5, GNRH1, UCP2, GLUL
3sulfonylurea4510.7KCNJ5, KCNJ11, GCK, HNF1A, GLUD1, INS
4katp4510.6KCNJ11, ABCC8, GCK, HADH, GLUD1, INS
5glimepiride45 50 1112.6KCNJ11, INS, ABCC8, INSR, KCNJ5
6glipizide45 1111.6SST, INS, ABCC8, KCNJ5
7tolbutamide45 50 29 1113.6KCNJ5, ABCC8, GLUD1, SST, HNF1A, GCK
8preproinsulin4510.6GCK, INSR, UCP2, INS
9phosphoenolpyruvate45 1111.6GLUD1, GCK, HNF1A, HNF4A, IGFBP1, GLUL
10gnrh4510.6GHRL, GNRH1, IGFBP1, SHBG
11clomiphene citrate4510.6SHBG, INSR, IGFBP1, GNRH1, INS
12acth4510.5IGFBP1, SST, GHRL, GNRH1, LSL
13repaglinide45 50 1112.5ABCC8, INS, KCNJ11, KCNJ5
14dehydroepiandrosterone sulfate4510.5GNRH1, SHBG, IGFBP1, INS, GHRL, LSL
15diazoxide45 60 29 1113.5KCNJ11, GCK, HADH, SHBG, SST, GLUD1
16beta-hydroxybutyrate4510.5IGFBP1, LSL, INS, GLUD1
17streptozotocin4510.5SST, GCK, INSR, INS, UCP2
18octreotide45 60 29 1113.5INS, SST, INSR, GHRL, GNRH1, LSL
19valproate4510.5LSL, SHBG, IGFBP1, GLUD1, SST
20rosiglitazone45 50 29 11 2414.5SHBG, LSL, UCP2, GHRL, INSR, INS
21potassium45 11 2412.5HNF1A, UCP2, GHRL, GLUD1, ABCC8, GCK
22glycerol45 11 2412.5INS, GLUL, GLUD1, IGFBP1, HNF4A, SHBG
23fatty acid4510.5GLUD1, HNF4A, ABCC8, HSD17B10, GCK, HNF1A
24carbohydrates4510.5LSL, INSR, INS, SHBG, GHRL, UCP2
25hydrocortisone45 2 60 1113.4LSL, GHRL, SHBG, SST, IGFBP1, GLUL
26glycogen45 2411.4INSR, GLUL, IGFBP1, UCP2, INS, HNF4A
27dexamethasone45 50 29 1113.4INSR, INS, GLUL, GLUD1, SHBG, GHRL
28metformin45 50 1112.4ABCC8, INSR, INS, IGFBP1, SHBG, GHRL
29thyroxine45 2411.4LSL, GNRH1, UCP2, GHRL, SHBG, INSR
30epinephrine45 11 2412.4INSR, LSL, GNRH1, INS, GHRL, IGFBP1
31glutamine4510.4HNF1A, HNF4A, GCK, KCNJ11, UCP2, INSR
32glucose4510.4LSL, HNF1A, GCK, KCNJ11, KCNJ5, UCP2
33alanine4510.4INS, GLUL, GLUD1, SHBG, INSR, GCK
34c-peptide4510.4GCK, KCNJ11, HNF1A, HNF4A, LSL, GHRL
35pegvisomant45 1111.4GLUL, GHRL, IGFBP1, SST
36leucine4510.3HNF4A, HNF1A, GCK, KCNJ11, HADH, IGFBP1
37cholesterol45 29 11 2413.3IGFBP1, SHBG, ABCC8, UCP2, HNF4A, HNF1A
38glibenclamide45 29 50 6013.3INS, ABCC8, INSR, KCNJ11, KCNJ5
39lactate4510.3SHBG, GHRL, UCP2, GNRH1, LSL, GCK
40creatinine4510.3IGFBP1, INS, INSR, SHBG, GHRL, GNRH1
41testosterone45 60 11 2413.3SST, GNRH1, KCNJ5, HSD17B10, IGFBP1, HNF4A
42oxygen45 2411.3GLUD1, GCK, KCNJ5, LSL, UCP2, GHRL
43acipimox45 2911.3SST, INS, LSL, GHRL
44intralipid4510.3INS, SST, LSL, GHRL
45glutamate4510.3INS, GLUL, GLUD1, IGFBP1, SST, GHRL
46arginine4510.2IGFBP1, KCNJ11, GCK, ABCC8, INSR, INS
47aspartate4510.2GLUD1, SHBG, GNRH1, LSL, KCNJ11, GLUL
48lipid4510.2HNF4A, ABCC8, SHBG, GHRL, INS, GLUL
492-deoxyglucose45 1111.1GCK, GHRL, INSR, INS, IGFBP1
50gliclazide45 50 1112.0KCNJ11, INSR, ABCC8, INS

GO Terms for genes affiliated with Hyperinsulinism

Sources:
16Gene Ontology
See all sources

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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Sources for Hyperinsulinism

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet