MCID: HYP060
MIFTS: 47

Hyperinsulinism malady

Genetic diseases (common) category

Summaries for Hyperinsulinism

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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 based summary: Hyperinsulinism, also known as hyperinsulinemia, is related to 3-hydroxyacyl-coa dehydrogenase deficiency and hyperinsulinemic hypoglycemia, familial, 2. 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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Hyperinsulinism, Aliases & Descriptions:

Name: Hyperinsulinism 9 11 43 60
Hyperinsulinemia 9 43
 
Hyperinsulinism Nos 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

Disease Ontology9 DOID:2018
MeSH33 D006946

Related Diseases for Hyperinsulinism

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Diseases in the Hyperinsulinism family:

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 Suite gene sharing:

(show top 50)    (show all 171)
idRelated DiseaseScoreTop Affiliating Genes
13-hydroxyacyl-coa dehydrogenase deficiency31.3HADH
2hyperinsulinemic hypoglycemia, familial, 231.1ABCC8, INS
3hyperuricemia29.8GCK, INS
4glucose intolerance29.7GCK, INS
5obesity29.7HNF4A, KCNJ5, ABCC8, KCNJ11, INS, GCK
6ischemia29.5GLUD1, ABCC8, KCNJ5, GCK
7hyperinsulinemic hypoglycemia29.4GCK, GLUD1, INS, KCNJ11, ABCC8, HADH
8adenoma29.3HNF4A, INS, KCNJ5
9maturity-onset diabetes of the young29.2INS, KCNJ11, GCK, HNF4A
10hypoglycemia29.2INS, KCNJ11, GCK, GLUD1, HNF4A, ABCC8
11neonatal diabetes mellitus29.2GCK, INS, KCNJ11, KCNJ5, ABCC8
12hyperglycemia29.2ABCC8, KCNJ11, HNF4A, GCK, INS
13insulinoma29.0KCNJ5, GCK, GLUD1, HNF4A, ABCC8, KCNJ11
14pancreatitis10.7
15hyperinsulinism-hyperammonemia syndrome10.6
16hyperandrogenism10.4
17polycystic ovary syndrome10.4
18hepatitis10.3
19islet cell tumor10.3
20exercise-induced hyperinsulinism10.3
21abcc8-related hyperinsulinism10.2
22acute insulin response10.2
23beckwith-wiedemann syndrome10.2
24hyperinsulinism due to glucokinase deficiency10.2
25ischemic heart disease10.1
26kidney disease10.1
27endotheliitis10.1
28hypertrophic cardiomyopathy10.1
29ovarian disease10.1
30fasting hypoglycemia10.1
31hyperinsulinism, diffuse10.1
32hyperinsulinism, focal10.1
33kcnj11-related hyperinsulinism10.1
34gck-related hyperinsulinism10.1
35glud1-related hyperinsulinism10.1
36hadh-related hyperinsulinism10.1
37hnf4a-related hyperinsulinism10.1
38hyperinsulinism due to insr deficiency10.1
39hyperinsulinism due to hnf4a deficiency10.1
40autosomal dominant hyperinsulinism due to kir6.2 deficiency10.1
41autosomal dominant hyperinsulinism due to sur1 deficiency10.1
42diazoxide-resistant focal hyperinsulinism due to sur1 deficiency10.1
43diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency10.1
44hyperinsulinism due to ucp2 deficiency10.1
45hyperinsulinism due to hnf1a deficiency10.1
46autosomal recessive hyperinsulinism due to sur1 deficiency10.1
47autosomal recessive hyperinsulinism due to kir6.2 deficiency10.1
48myocardial infarction10.0
49lipoprotein lipase deficiency10.0
50congenital adrenal hyperplasia10.0

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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Drug clinical trials:

Search ClinicalTrials for Hyperinsulinism

Search NIH Clinical Center for Hyperinsulinism

Genetic Tests for Hyperinsulinism

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Anatomical Context for Hyperinsulinism

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MalaCards organs/tissues related to Hyperinsulinism:

31
Ovary, Pancreas, Testes, Pancreatic islet, B cells, Brain, Heart, Bone, Spleen, Smooth muscle, Colon, Liver, Pituitary, Fetal brain

Animal Models for Hyperinsulinism or affiliated genes

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MGI Mouse Phenotypes related to Hyperinsulinism:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.6GCK, GLUD1, INS, KCNJ11, ABCC8, HADH
2MP:00053787.3HADH, KCNJ11, HNF4A, GLUD1, GCK, INS
3MP:00053766.6GLUD1, HNF4A, INS, KCNJ11, ABCC8, GCK

Publications for Hyperinsulinism

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Articles related to Hyperinsulinism:

(show top 50)    (show all 562)
idTitleAuthorsYear
1
Hyperinsulinism in a child presenting with cardiac ischemia and bradycardia. (25544821)
2015
2
Congenital hyperinsulinism: Role of fluorine-18L-3, 4 hydroxyphenylalanine positron emission tomography scanning. (24976928)
2014
3
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy. (23652837)
2013
4
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations. (23266803)
2013
5
An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide. (20686794)
2013
6
The Injurious Effects of Hyperinsulinism on Blood Vessels. (24352639)
2013
7
A dominant ABCC8-related hyperinsulinism: familial case ReportMoreira et al. ABCC8-related hyperinsulinism. (23301914)
2013
8
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
9
Successful subcutaneous glucagon use for persistent hypoglycaemia in congenital hyperinsulinism. (23813352)
2013
10
The heterogeneity of focal forms of congenital hyperinsulinism. (22031516)
2012
11
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. (22802087)
2012
12
In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions. (21968111)
2011
13
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
14
The surgical management of atypical forms of congenital hyperinsulinism. (21186006)
2011
15
Techniques in pediatric surgery: congenital hyperinsulinism. (21160200)
2010
16
Two unrelated Chinese patients with hyperinsulinism /hyperammonemia (HI/HA) syndrome due to mutations in glutamate dehydrogenase gene. (20857847)
2010
17
Role of 18F-DOPA PET/CT imaging in congenital hyperinsulinism. (20878481)
2010
18
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. (19475716)
2009
19
Hyperinsulinism and diabetes: genetic dissection of beta cell metabolism-excitation coupling in mice. (19945402)
2009
20
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. (18450771)
2008
21
18F]Fluoro-L-dopa PET/CT in congenital hyperinsulinism. (17895790)
2007
22
Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. (17895314)
2007
23
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. (16380471)
2006
24
Congenital hyperinsulinism and mosaic abnormalities of the ploidy. (16033916)
2006
25
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels. (15963039)
2005
26
Congenital hyperinsulinism in newborn and infant]. (16198094)
2005
27
Hyperandrogenism, postprandial hyperinsulinism and the risk of PCOS in a cross sectional study of women with epilepsy treated with valproate. (11823113)
2002
28
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. (12364426)
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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Search GEO for disease gene expression data for Hyperinsulinism.

Pathways for genes affiliated with Hyperinsulinism

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Pathways related to Hyperinsulinism according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ABCC8, KCNJ11
2
Show member pathways
9.2ABCC8, KCNJ5, KCNJ11
3
Show member pathways
9.2KCNJ11, KCNJ5, ABCC8
49.2KCNJ11, KCNJ5, ABCC8
5
Show member pathways
9.2KCNJ11, KCNJ5, ABCC8
69.1GCK, HNF4A
7
Show member pathways
9.1ABCC8, KCNJ11, INS
88.7INS, HNF4A, GLUD1
9
Show member pathways
8.5ABCC8, KCNJ11, INS, GCK
10
Show member pathways
8.5GCK, HNF4A, INS
11
Show member pathways
8.5GCK, HNF4A, INS
12
Show member pathways
8.5INS, HNF4A, GCK
13
Show member pathways
7.7HADH, ABCC8, KCNJ11, INS, GLUD1, GCK
14
Show member pathways
7.7ABCC8, KCNJ11, INS, HNF4A, GCK
157.3GCK, HNF4A, INS, KCNJ11, ABCC8, HADH

Compounds for genes affiliated with Hyperinsulinism

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Compounds related to Hyperinsulinism according to GeneCards Suite gene sharing:

(show top 50)    (show all 79)
idCompoundScoreTop Affiliating Genes
1cibenzoline4310.1KCNJ11, ABCC8
2alpha-ketoisocaproate439.9GLUD1, GCK
3benzopyran439.9KCNJ5, ABCC8
4dicyandiamide439.9KCNJ5, ABCC8
5levosimendan43 1210.9KCNJ5, KCNJ11
6pinacidil439.8KCNJ5, ABCC8
7meglitinide439.8INS, ABCC8
8mitiglinide43 1210.7ABCC8, INS
9chromium picolinate439.7INS, GCK
10nicorandil43 2810.6KCNJ11, KCNJ5, ABCC8
11mgadp439.6ABCC8, KCNJ11, KCNJ5
12chlorpropamide43 49 1211.6ABCC8, INS
13cromakalim43 2810.6KCNJ5, KCNJ11, ABCC8
14minoxidil43 28 1211.6ABCC8, KCNJ5, KCNJ11
15preproinsulin439.5INS, GCK
16gliclazide43 49 1211.5ABCC8, KCNJ11, INS
17i-app439.4GCK, INS
18incretin439.3GCK, INS
19glipizide43 49 1211.3INS, KCNJ5, ABCC8
20carnitine439.3HADH, INS, GLUD1
21nateglinide43 49 1211.3ABCC8, KCNJ5, INS
22beta-hydroxybutyrate439.2GLUD1, INS
23phosphoenolpyruvate43 1210.1GCK, GLUD1, HNF4A
24acyl-coa439.1GLUD1, HADH, HNF4A
25repaglinide49 43 1211.0KCNJ5, ABCC8, KCNJ11, INS
26glimepiride43 49 1211.0INS, KCNJ11, KCNJ5, ABCC8
27glibenclamide43 28 49 5912.0ABCC8, INS, KCNJ11, KCNJ5
28metformin43 49 1211.0GCK, INS, KCNJ11, ABCC8
29magnesium43 24 1210.7KCNJ5, ABCC8, KCNJ11, GCK
30potassium43 24 1210.7KCNJ5, GLUD1, GCK, ABCC8, KCNJ11
31lactate438.7INS, GLUD1, GCK, KCNJ5
32glutamine438.7KCNJ11, GCK, GLUD1, HNF4A
33adp43 28 2410.7KCNJ5, ABCC8, KCNJ11, GCK, GLUD1
34c-peptide438.6HNF4A, GCK, KCNJ11, INS
35glycerol43 24 1210.5GCK, INS, HNF4A, GLUD1
36glycogen43 249.4HNF4A, INS, ABCC8, GCK
37lysine438.4ABCC8, KCNJ5, KCNJ11, HNF4A, GLUD1
38tolbutamide43 28 49 1211.1GLUD1, INS, KCNJ11, KCNJ5, ABCC8, GCK
39sulfonylurea438.1ABCC8, KCNJ5, GCK, GLUD1, INS, KCNJ11
40testosterone43 59 24 1211.1HNF4A, INS, KCNJ5, ABCC8
41cholesterol43 28 24 1211.0ABCC8, INS, HNF4A, GCK
42leucine438.0ABCC8, HADH, HNF4A, GLUD1, GCK, KCNJ11
43atp43 288.9GCK, GLUD1, HNF4A, KCNJ11, KCNJ5, ABCC8
44arginine437.8GLUD1, INS, GCK, ABCC8, KCNJ11, HNF4A
45lipid437.8GCK, HNF4A, INS, ABCC8, KCNJ5
46fatty acid437.7GCK, ABCC8, HADH, INS, HNF4A, GLUD1
47katp437.7GCK, GLUD1, INS, HADH, ABCC8, KCNJ5
48diazoxide43 59 28 1210.7GCK, HADH, ABCC8, KCNJ5, KCNJ11, INS
49glutamate436.8GCK, HADH, GLUD1, HNF4A, INS, KCNJ11
50glucose436.8KCNJ11, GCK, HNF4A, GLUD1, INS, KCNJ5

GO Terms for genes affiliated with Hyperinsulinism

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Cellular components related to Hyperinsulinism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:00080768.9KCNJ11, KCNJ5, ABCC8
2mitochondrionGO:00057398.8GCK, GLUD1, KCNJ11, HADH

Biological processes related to Hyperinsulinism according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin secretionGO:00466769.7KCNJ11, HADH
2positive regulation of insulin secretionGO:00320249.6GLUD1, GCK
3potassium ion transportGO:00068139.5KCNJ5, ABCC8
4negative regulation of gluconeogenesisGO:00457219.5GCK, INS
5positive regulation of glycolytic processGO:00458219.5GCK, INS
6positive regulation of glycogen biosynthetic processGO:00457259.4INS, GCK
7potassium ion transmembrane transportGO:00718059.4ABCC8, KCNJ5, KCNJ11
8energy reserve metabolic processGO:00061129.3ABCC8, KCNJ11, INS
9synaptic transmissionGO:00072689.1KCNJ11, KCNJ5, ABCC8
10glucose transportGO:00157589.0GCK, INS
11endocrine pancreas developmentGO:00310188.8GCK, HNF4A, INS
12glucose homeostasisGO:00425938.7GCK, HNF4A, INS
13small molecule metabolic processGO:00442818.0HADH, ABCC8, KCNJ11, INS, GLUD1, GCK
14regulation of insulin secretionGO:00507968.0GCK, HNF4A, INS, KCNJ11, ABCC8

Molecular functions related to Hyperinsulinism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.7KCNJ11, ABCC8
2NAD+ bindingGO:00704039.7GLUD1, HADH
3ADP bindingGO:00435319.5GCK, GLUD1
4ATP bindingGO:00055248.5ABCC8, KCNJ11, GLUD1, GCK

Products for genes affiliated with Hyperinsulinism

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Sources for Hyperinsulinism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet