MCID: HYP060
MIFTS: 56

Hyperinsulinism malady

Summaries for Hyperinsulinism

About this section
Sources:
63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Hyperinsulinism

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section

Anatomical Context for Hyperinsulinism

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Hyperinsulinism:

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

Animal Models for Hyperinsulinism or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Hyperinsulinism:

(show top 50)    (show all 530)
idTitleAuthorsYear
1
Clinical and Genetic Evaluation of Patients with KATP Channel Mutations from the German Registry for Congenital Hyperinsulinism. (24401662)
2014
2
Congenital hyperinsulinism. (23652685)
2013
3
Hyperinsulinism as a common cause of hypoglycemia in children - pathogenesis, diagnosis and treatment. (23739646)
2013
4
Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome. (23197114)
2013
5
Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases. (24057290)
2013
6
18F-DOPA PET and enhanced CT imaging for congenital hyperinsulinism: initial UK experience from a technologist's perspective. (23571817)
2013
7
Prevalence of hyperinsulinism, type 2 diabetes mellitus and metabolic syndrome among Saudi overweight and obese pediatric patients. (23108324)
2012
8
Hepatocyte nuclear factor 4I+ gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young. (21353246)
2011
9
Neonatal hyperinsulinism secondary to maternal intake of high-sugar drinks. (22689550)
2011
10
In vitro recovery of ATP-sensitive potassium channels in I^-cells from patients with congenital hyperinsulinism of infancy. (21411514)
2011
11
Glucose metabolism and neurological outcome in congenital hyperinsulinism. (21186004)
2011
12
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. (18250167)
2008
13
Hyperandrogenism and hyperinsulinism in children of women with polycystic ovary syndrome: a controlled study. (18270257)
2008
14
Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. (17895314)
2007
15
Congenital hyperinsulinism - a review of the disorder and a discussion of the anesthesia management. (17564642)
2007
16
Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy. (17923769)
2007
17
beta-cell hyperexcitability: from hyperinsulinism to diabetes. (17919182)
2007
18
Hyperinsulinism in tyrosinaemia type I. (15877201)
2005
19
Laparoscopic diagnosis and cure of hyperinsulinism in two cases of focal adenomatous hyperplasia in infancy. (15466080)
2004
20
Nesidioblastosis in adults: a challenging cause of organic hyperinsulinism. (12795645)
2003
21
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. (12364426)
2002
22
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
23
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. (11214910)
2001
24
Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations. (11272143)
2001
25
Effect of fetal hyperinsulinism on oral glucose tolerance test results in patients with gestational diabetes mellitus. (11228505)
2001
26
Hyperinsulinism and Beckwith-Wiedemann syndrome. (11124932)
2001
27
Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels. (10720932)
2000
28
Congenital hyperinsulinism and the surgeon: lessons learned over 35 years. (10359182)
1999
29
Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics. (10453735)
1999
30
Premature pubarche, ovarian hyperandrogenism, hyperinsulinism and the polycystic ovary syndrome: from a complex constellation to a simple sequence of prenatal onset. (9856410)
1998
31
Familial hyperinsulinism caused by an activating glucokinase mutation. (9435328)
1998
32
Genetic heterogeneity in familial hyperinsulinism. (9618169)
1998
33
Maternal diabetes-induced hyperglycemia and acute intracerebral hyperinsulinism suppress fetal brain neuropeptide Y concentrations. (9048596)
1997
34
Octreotide in hyperinsulinism. (9034427)
1997
35
Covalent glycoinositolphospholipid binding to hemoglobin: a new post-translational modification of Hb occurring in hyperinsulinism with concomitant hypoglycemia. (9344847)
1997
36
Fetal hyperinsulinism at 14-20 weeks and subsequent gestational diabetes. (8532274)
1996
37
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. (7920639)
1994
38
Hyperinsulinism as a marker in obese children. (8352218)
1993
39
Lifelong enhanced diabetes susceptibility and obesity after temporary intrahypothalamic hyperinsulinism during brain organization. (1639125)
1992
40
Transient hyperinsulinism in asphyxiated newborn infants. (1867877)
1991
41
The surgical approach to hyperinsulinism and hypoglycemia in children. (2102986)
1990
42
Complications of diazoxide treatment in persistent neonatal hyperinsulinism. (2684032)
1989
43
Long-term treatment with diazoxide in childhood hyperinsulinism. (3465173)
1986
44
Hyperandrogenism, hyperinsulinism and polycystic ovarian disease. (3571857)
1986
45
Hyperinsulinism and feeding; not all sequences lead to the same behavioral outcome or conclusions. (3994355)
1985
46
Near-total pancreatectomy for hyperinsulinism. Spontaneous remission of resultant diabetes. (3887837)
1985
47
Immunohistochemical, morphometric, and clinical studies of the pancreatic islets in infants with persistent neonatal hypoglycemia of familial type with hyperinsulinism and nesidioblastosis. (6114606)
1981
48
Insulin antibodies in an infant with hyperinsulinism and persistent hypoglycaemia treated with glucagon. (7021288)
1981
49
Significance of argyrophil parenchymal cells in the pancreatic islets in persistent neonatal hypoglycemia with hyperinsulinism of familial type. (7034341)
1981
50
Clinics on endocrine and metabolic diseases. 3. Hyperinsulinism: review of 95 cases of functioning pancreatic islet cell tumors. (13748469)
1960

Genetic Variations for Hyperinsulinism

About this section

Expression for genes affiliated with Hyperinsulinism

About this section
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

About this section
Sources:
53Reactome, 29KEGG, 12EMD Millipore, 49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN, 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

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience, 2BitterDB
See all sources

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

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperinsulinism

About this section
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