MCID: HYP060
MIFTS: 55

Hyperinsulinism malady

Genetic diseases, Endocrine diseases, Rare diseases categories

Summaries for Hyperinsulinism

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66Wikipedia, 34MalaCards
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Wikipedia:66 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 obesity. An important gene associated with Hyperinsulinism is GLUD1 (glutamate dehydrogenase 1), and among its related pathways are Development Leptin signaling via PI3K dependent pathway and Potassium transporters inward current. The compounds cibenzoline and alpha-ketoisocaproate 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 growth/size/body.

Aliases & Classifications for Hyperinsulinism

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Aliases & Descriptions:

hyperinsulinism 9 11 46 63
hyperinsulinemia 9 46
hyperinsulinism nos 9


External Ids:

Disease Ontology9 DOID:2018
MeSH36 D006946

Related Diseases for Hyperinsulinism

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Sources:
18GeneCards, 19GeneDecks
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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 171)
idRelated DiseaseScoreTop Affiliating Genes
1familial hyperinsulinism31.0HADH, ABCC8, KCNJ11, GLUD1, GCK
2obesity30.6ABCC8, KCNJ5, KCNJ11, INS, HNF4A, GCK
33-hydroxyacyl-coa dehydrogenase deficiency30.6HADH
4insulin resistance30.5ABCC8, INS, HNF4A, GCK
5hypoglycemia30.5HADH, ABCC8, KCNJ5, KCNJ11, INS, HNF4A
6diabetes mellitus30.3ABCC8, KCNJ5, KCNJ11, INS, HNF4A, GCK
7insulinoma30.0ABCC8, KCNJ5, KCNJ11, INS, HNF4A, GLUD1
8gestational diabetes30.0ABCC8, KCNJ11, INS, HNF4A, GCK
9adenoma29.9HNF4A, INS, KCNJ5
10hyperinsulinemic hypoglycemia29.8INS, ABCC8
11hyperglycemia29.8GCK, HNF4A, INS, KCNJ11, ABCC8
12hyperuricemia29.8GCK, INS
13glucose intolerance29.8GCK, INS
14type 2 diabetes mellitus29.8ABCC8, KCNJ5, KCNJ11, INS, HNF4A, GCK
15maturity-onset diabetes of the young29.7KCNJ11, INS, HNF4A, GCK
16neonatal diabetes mellitus29.7ABCC8, KCNJ5, KCNJ11, INS, GCK
17pancreatitis10.6
18hyperinsulinism-hyperammonemia syndrome10.6
19hyperandrogenism10.4
20hypertriglyceridemia10.4
21essential hypertension10.4
22polycystic ovary syndrome10.4
23hypertension10.3
24hepatitis10.3
25islet cell tumor10.3
26hyperinsulinemic hypoglycemia, familial, 110.2
27abcc8-related hyperinsulinism10.2
28acute insulin response10.2
29beckwith-wiedemann syndrome10.1
30kidney disease10.1
31ovarian disease10.1
32exercise-induced hyperinsulinemic hypoglycemia10.1
33fasting hypoglycemia10.1
34hyperinsulinemic hypoglycemia familial 210.1
35hypercholesterolemia10.1
36endotheliitis10.1
3721-hydroxylase deficiency10.0
38coronary artery disease10.0
39congenital adrenal hyperplasia10.0
40hypertrophic cardiomyopathy10.0
41anorexia nervosa10.0
42cerebritis10.0
43artery disease10.0
44lipodystrophy10.0
45long qt syndrome10.0
46myocardial infarction10.0
47hyperinsulinism due to glucokinase deficiency10.0
48hyperinsulinism due to glutamodehydrogenase deficiency10.0
49hyperinsulinism, diffuse10.0
50hyperinsulinism, focal10.0

Graphical network of the top 20 diseases related to Hyperinsulinism:



Diseases related to hyperinsulinism

Symptoms for Hyperinsulinism

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Drugs & Therapeutics for Hyperinsulinism

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Hyperinsulinism:

34
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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38MGI
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MGI Mouse Phenotypes related to Hyperinsulinism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.6GCK, GLUD1, INS, KCNJ11, ABCC8, HADH
2MP:00053787.3GCK, GLUD1, HNF4A, INS, KCNJ11, HADH
3MP:00053766.6HADH, ABCC8, KCNJ11, INS, HNF4A, GLUD1

Publications for Hyperinsulinism

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53PubMed
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Articles related to Hyperinsulinism:

(show top 50)    (show all 525)
idTitleAuthorsYear
1
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy. (23652837)
2013
2
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations. (23266803)
2013
3
An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide. (20686794)
2013
4
The Injurious Effects of Hyperinsulinism on Blood Vessels. (24352639)
2013
5
A dominant ABCC8-related hyperinsulinism: familial case ReportMoreira et al. ABCC8-related hyperinsulinism. (23301914)
2013
6
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
7
Successful subcutaneous glucagon use for persistent hypoglycaemia in congenital hyperinsulinism. (23813352)
2013
8
The heterogeneity of focal forms of congenital hyperinsulinism. (22031516)
2012
9
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. (22802087)
2012
10
In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions. (21968111)
2011
11
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
12
The surgical management of atypical forms of congenital hyperinsulinism. (21186006)
2011
13
Techniques in pediatric surgery: congenital hyperinsulinism. (21160200)
2010
14
Two unrelated Chinese patients with hyperinsulinism /hyperammonemia (HI/HA) syndrome due to mutations in glutamate dehydrogenase gene. (20857847)
2010
15
Role of 18F-DOPA PET/CT imaging in congenital hyperinsulinism. (20878481)
2010
16
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. (19475716)
2009
17
Hyperinsulinism and diabetes: genetic dissection of beta cell metabolism-excitation coupling in mice. (19945402)
2009
18
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. (18450771)
2008
19
18F]Fluoro-L-dopa PET/CT in congenital hyperinsulinism. (17895790)
2007
20
Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. (17895314)
2007
21
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. (16380471)
2006
22
Congenital hyperinsulinism and mosaic abnormalities of the ploidy. (16033916)
2006
23
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels. (15963039)
2005
24
Congenital hyperinsulinism in newborn and infant]. (16198094)
2005
25
Hyperinsulinism/Hyperammonemia Syndrome: a synopsis. (15773041)
2005
26
Hyperandrogenism, postprandial hyperinsulinism and the risk of PCOS in a cross sectional study of women with epilepsy treated with valproate. (11823113)
2002
27
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. (12364426)
2002
28
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. (11867634)
2002
29
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. (11395395)
2001
30
p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy. (11723059)
2001
31
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. (11214910)
2001
32
Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations. (11272143)
2001
33
Transient hyperinsulinism in an asphyxiated newborn infant with hypoglycemia. (11444360)
2001
34
A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene. (11201367)
2001
35
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. (10973248)
2000
36
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
37
Clinical features of 52 neonates with hyperinsulinism. (10202168)
1999
38
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. (9571255)
1998
39
Perinatal hyperinsulinism as possible predisposing factor for diabetes mellitus, obesity and enhanced cardiovascular risk in later life. (8076902)
1994
40
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
41
Familial Hyperinsulinism (20301549)
1993
42
Familial hyperinsulinism presenting in adults. (1358043)
1992
43
Ketamine induction for a patient with hyperinsulinism treated with oral diazoxide. (3768777)
1986
44
The diagnosis of hyperinsulinism in a child in the absence of hyperinsulinemia. (3528606)
1986
45
The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells? (6376236)
1984
46
Hyperinsulinism and insulin resistance in polycystic ovarian syndrome: a verification using oral glucose, I.V. Glucose and tolbutamide. (6224386)
1983
47
Hypoglycemia secondary to factitious hyperinsulinism. (7005884)
1981
48
Serum branched-chain amino acids in the diagnosis of hyperinsulinism in infancy. (7003083)
1980
49
Clinics on endocrine and metabolic diseases. 3. Hyperinsulinism: review of 95 cases of functioning pancreatic islet cell tumors. (13748469)
1960
50
Islet-cell tumor of the pancreas with hyperinsulinism; failure of surgical and alloxan treatment; report of a case. (13268201)
1955

Variations for Hyperinsulinism

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Expression for genes affiliated with Hyperinsulinism

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2BioGPS, 16Gene 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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51PathCards, 61Thomson Reuters, 13EMD Millipore, 56Reactome, 52PharmGKB, 39NCBI BioSystems Database, 5Cell Signaling Technology, 31KEGG, 54QIAGEN
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Pathways related to Hyperinsulinism according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ABCC8, KCNJ11
29.6KCNJ11, KCNJ5
3
Show member pathways
9.2ABCC8, KCNJ5, KCNJ11
4
Show member pathways
9.2KCNJ11, KCNJ5, ABCC8
59.2KCNJ11, KCNJ5, ABCC8
6
Show member pathways
9.2KCNJ11, KCNJ5, ABCC8
79.1GCK, HNF4A
8
Show member pathways
9.1ABCC8, KCNJ11, INS
98.7INS, HNF4A, GLUD1
10
Show member pathways
8.5ABCC8, KCNJ11, INS, GCK
11
Show member pathways
8.5GCK, HNF4A, INS
12
Show member pathways
8.5GCK, HNF4A, INS
13
Show member pathways
8.5INS, HNF4A, GCK
14
Show member pathways
7.7HADH, ABCC8, KCNJ11, INS, GLUD1, GCK
15
Show member pathways
7.7ABCC8, KCNJ11, INS, HNF4A, GCK
167.3GCK, HNF4A, INS, KCNJ11, ABCC8, HADH

Compounds for genes affiliated with Hyperinsulinism

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46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience, 25HMDB
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Compounds related to Hyperinsulinism according to GeneCards/GeneDecks:

(show top 50)    (show all 79)
idCompoundScoreTop Affiliating Genes
1cibenzoline4610.1KCNJ11, ABCC8
2alpha-ketoisocaproate469.9GLUD1, GCK
3benzopyran469.9KCNJ5, ABCC8
4dicyandiamide469.9KCNJ5, ABCC8
5levosimendan46 1210.9KCNJ5, KCNJ11
6pinacidil469.8KCNJ5, ABCC8
7meglitinide469.8INS, ABCC8
8mitiglinide46 1210.7ABCC8, INS
9chromium picolinate469.7INS, GCK
10nicorandil46 3010.6KCNJ11, KCNJ5, ABCC8
11mgadp469.6ABCC8, KCNJ11, KCNJ5
12chlorpropamide46 52 1211.6ABCC8, INS
13cromakalim46 3010.6KCNJ5, KCNJ11, ABCC8
14minoxidil46 30 1211.6ABCC8, KCNJ5, KCNJ11
15preproinsulin469.5INS, GCK
16gliclazide46 52 1211.5ABCC8, KCNJ11, INS
17i-app469.4GCK, INS
18incretin469.3GCK, INS
19glipizide46 52 1211.3INS, KCNJ5, ABCC8
20carnitine469.3HADH, INS, GLUD1
21nateglinide46 52 1211.3ABCC8, KCNJ5, INS
22beta-hydroxybutyrate469.2GLUD1, INS
23phosphoenolpyruvate46 1210.1GCK, GLUD1, HNF4A
24acyl-coa469.1GLUD1, HADH, HNF4A
25repaglinide52 46 1211.0KCNJ5, ABCC8, KCNJ11, INS
26glimepiride46 52 1211.0INS, KCNJ11, KCNJ5, ABCC8
27glibenclamide46 30 52 6212.0ABCC8, INS, KCNJ11, KCNJ5
28metformin46 52 1211.0GCK, INS, KCNJ11, ABCC8
29magnesium46 25 1210.7KCNJ5, ABCC8, KCNJ11, GCK
30potassium46 25 1210.7KCNJ5, GLUD1, GCK, ABCC8, KCNJ11
31lactate468.7INS, GLUD1, GCK, KCNJ5
32glutamine468.7KCNJ11, GCK, GLUD1, HNF4A
33adp46 30 2510.7KCNJ5, ABCC8, KCNJ11, GCK, GLUD1
34c-peptide468.6HNF4A, GCK, KCNJ11, INS
35glycerol46 25 1210.5GCK, INS, HNF4A, GLUD1
36glycogen46 259.4HNF4A, INS, ABCC8, GCK
37lysine468.4ABCC8, KCNJ5, KCNJ11, HNF4A, GLUD1
38tolbutamide46 30 52 1211.1GLUD1, INS, KCNJ11, KCNJ5, ABCC8, GCK
39sulfonylurea468.1ABCC8, KCNJ5, GCK, GLUD1, INS, KCNJ11
40testosterone46 62 25 1211.1HNF4A, INS, KCNJ5, ABCC8
41cholesterol46 30 25 1211.0ABCC8, INS, HNF4A, GCK
42leucine468.0ABCC8, HADH, HNF4A, GLUD1, GCK, KCNJ11
43atp46 308.9GCK, GLUD1, HNF4A, KCNJ11, KCNJ5, ABCC8
44arginine467.8GLUD1, INS, GCK, ABCC8, KCNJ11, HNF4A
45lipid467.8GCK, HNF4A, INS, ABCC8, KCNJ5
46fatty acid467.7GCK, ABCC8, HADH, INS, HNF4A, GLUD1
47katp467.7GCK, GLUD1, INS, HADH, ABCC8, KCNJ5
48diazoxide46 62 30 1210.7GCK, HADH, ABCC8, KCNJ5, KCNJ11, INS
49glutamate466.8GCK, HADH, GLUD1, HNF4A, INS, KCNJ11
50glucose466.8KCNJ11, GCK, HNF4A, GLUD1, INS, KCNJ5

GO Terms for genes affiliated with Hyperinsulinism

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17Gene Ontology
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Cellular components related to Hyperinsulinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080768.9KCNJ11, KCNJ5, ABCC8
2mitochondrionGO:0057398.8GCK, GLUD1, KCNJ11, HADH

Biological processes related to Hyperinsulinism according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin secretionGO:0466769.7KCNJ11, HADH
2positive regulation of insulin secretionGO:0320249.6GLUD1, GCK
3potassium ion transportGO:0068139.5KCNJ5, ABCC8
4negative regulation of gluconeogenesisGO:0457219.5GCK, INS
5positive regulation of glycolytic processGO:0458219.5GCK, INS
6positive regulation of glycogen biosynthetic processGO:0457259.4INS, GCK
7potassium ion transmembrane transportGO:0718059.4ABCC8, KCNJ5, KCNJ11
8energy reserve metabolic processGO:0061129.3ABCC8, KCNJ11, INS
9synaptic transmissionGO:0072689.1KCNJ11, KCNJ5, ABCC8
10glucose transportGO:0157589.0GCK, INS
11endocrine pancreas developmentGO:0310188.8GCK, HNF4A, INS
12glucose homeostasisGO:0425938.7GCK, HNF4A, INS
13small molecule metabolic processGO:0442818.0HADH, ABCC8, KCNJ11, INS, GLUD1, GCK
14regulation of insulin secretionGO:0507968.0GCK, HNF4A, INS, KCNJ11, ABCC8

Molecular functions related to Hyperinsulinism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.7KCNJ11, ABCC8
2NAD+ bindingGO:0704039.7GLUD1, HADH
3ADP bindingGO:0435319.5GCK, GLUD1
4ATP bindingGO:0055248.5ABCC8, KCNJ11, GLUD1, GCK

Products for genes affiliated with Hyperinsulinism

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Sources for Hyperinsulinism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet