MCID: HYP050
MIFTS: 60

Hyperinsulinemic Hypoglycemia malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Hyperinsulinemic Hypoglycemia

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9Disease Ontology, 66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Hyperinsulinemic hypoglycemia describes the condition and effects of low blood glucose caused by... more...

MalaCards: Hyperinsulinemic Hypoglycemia, also known as nesidioblastosis, is related to hypoglycemia and familial hyperinsulinism. An important gene associated with Hyperinsulinemic Hypoglycemia is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Integration of energy metabolism. The compounds cibenzoline and nicorandil have been mentioned in the context of this disorder. Affiliated tissues include pancreas, brain and pancreatic islet, and related mouse phenotypes are adipose tissue and endocrine/exocrine gland.

Disease Ontology:9 A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.

Description from OMIM:48 606762, 609968, 601820, 609975, 256450 610021, 602485 more

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

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Sources:
9Disease Ontology, 23GTR, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 48OMIM
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Classifications:

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


Aliases & Descriptions:

hyperinsulinemic hypoglycemia 9 11
nesidioblastosis 9 46 63
islet cell hyperplasia 9 23
persistent hyperinsulinemia hypoglycemia of infancy 9


Related Diseases for Hyperinsulinemic Hypoglycemia

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18GeneCards, 19GeneDecks
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Diseases in the Hyperinsulinemic Hypoglycemia, Familial, 1 family:

hyperinsulinemic hypoglycemia Hyperinsulinemic Hypoglycemia Familial 2
Hyperinsulinemic Hypoglycemia Familial 3 Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 5

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

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia31.7KCNJ11, INSR, ABCC8, HADH, SLC16A1, GCK
2familial hyperinsulinism30.8GCK, KCNJ11, ABCC8, HADH
3insulinoma30.6GCK, INSR, KCNJ11, ABCC8
4maturity-onset diabetes of the young30.6GCK, KCNJ11
5diabetes mellitus30.4GCK, ABCC8, KCNJ11, INSR
63-hydroxyacyl-coa dehydrogenase deficiency30.3HADH
7glucose intolerance30.2INSR, GCK
8liver cirrhosis30.1GCK, INSR
9gestational diabetes30.1GCK, INSR, ABCC8, KCNJ11
10hyperinsulinism30.1GCK, ABCC8, KCNJ11, INSR
11type 2 diabetes mellitus30.1GCK, INSR, KCNJ11, ABCC8
12obesity30.1GCK, INSR, KCNJ11, ABCC8
13pancreatitis10.8
14exercise-induced hyperinsulinemic hypoglycemia10.8
15hyperinsulinemic hypoglycemia familial 210.6
16hyperinsulinemic hypoglycemia, familial, 110.6
17hyperinsulinemic hypoglycemia familial 310.5
18hyperinsulinemic hypoglycemia, familial, 510.5
19hyperinsulinism-hyperammonemia syndrome10.3
20hyperinsulinemic hypoglycemia, familial, 410.3
21adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.3
22islet cell tumor10.2
23secretory diarrhea10.2
24hypermethioninemia10.2
25diarrhea10.2
26tyrosinemia10.2
27gastrointestinal stromal tumor10.2
28microcephaly10.2
29retinitis pigmentosa10.2
30beckwith-wiedemann syndrome10.2
31acquired immunodeficiency syndrome10.2
32hypertrophic cardiomyopathy10.2
33morbid obesity10.2
34duodenitis10.2
35mumps10.2
36sotos syndrome10.2
37cushing's syndrome10.2
38costello syndrome10.2
39neurofibrosarcoma10.2
40west syndrome10.2
41dumping syndrome10.2
42congenital disorder of glycosylation10.2
43hepatitis10.2
44hypopituitarism10.2
45neuroblastoma10.2
46neuroendocrine tumor10.2
47pyloric stenosis10.2
48retinitis10.2
49insulin autoimmune syndrome10.2
503-hydroxyacyl-coenzyme a dehydrogenase deficiency10.2

Graphical network of the top 20 diseases related to Hyperinsulinemic Hypoglycemia:



Diseases related to hyperinsulinemic hypoglycemia

Symptoms for Hyperinsulinemic Hypoglycemia

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48OMIM
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Clinical features from OMIM:

606762,609968,601820,609975,256450,610021,602485

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Hyperinsulinemic Hypoglycemia

Drug clinical trials:

Search ClinicalTrials for Hyperinsulinemic Hypoglycemia

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia

Search CenterWatch for Hyperinsulinemic Hypoglycemia

Genetic Tests for Hyperinsulinemic Hypoglycemia

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23GTR
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Genetic tests related to Hyperinsulinemic Hypoglycemia:

id Genetic test Affiliating Genes
1 Islet Cell Hyperplasia23

Anatomical Context for Hyperinsulinemic Hypoglycemia

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34MalaCards
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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

34
Pancreas, Brain, Pancreatic islet, Spleen, Liver, B cells

Animal Models for Hyperinsulinemic Hypoglycemia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7INSR, KCNJ11, HADH
2MP:00053797.5GCK, INSR, KCNJ11, ABCC8, HADH
3MP:00053767.3HADH, ABCC8, KCNJ11, INSR, GCK

Publications for Hyperinsulinemic Hypoglycemia

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53PubMed
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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50)    (show all 215)
idTitleAuthorsYear
1
Inhibition of insulin receptor function by a human, allosteric monoclonal antibody: A potential new approach for the treatment of hyperinsulinemic hypoglycemia. (24423625)
2014
2
Treatment of hyperinsulinemic hypoglycemia because of diffuse nesidioblastosis with nifedipine after surgical therapies in a newborn. (23751383)
2013
3
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
4
Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management. (23384201)
2013
5
Octreotide-treated diabetes accompanied by endogenous hyperinsulinemic hypoglycemia and protein-losing gastroenteropathy. (21826148)
2011
6
Limited value of 18F-F-DOPA PET to localize pancreatic insulin-secreting tumors in adults with hyperinsulinemic hypoglycemia. (19915018)
2010
7
Severe dietary protein sensitivity and hyperinsulinemic hypoglycemia in a patient with heterozygous mutation in HADH gene. (21175096)
2010
8
Persistent hyperinsulinemic hypoglycemia of infancy: constitutive activation of the mTOR pathway with associated exocrine-islet transdifferentiation and therapeutic implications. (20830240)
2010
9
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation. (20042013)
2010
10
Diffuse nesidioblastosis causing hyperinsulinemic hypoglycemia: the importance of pancreatic sampling on EUS. (18547573)
2008
11
Hyperinsulinemic hypoglycemia after bariatric surgery. (18397433)
2008
12
Diffuse nesidioblastosis as a cause of hyperinsulinemic hypoglycemia in adults: a diagnostic and therapeutic challenge. (17263973)
2007
13
Insulin autoimmune syndrome (Hirata disease) as differential diagnosis in patients with hyperinsulinemic hypoglycemia. (16670629)
2006
14
Costello syndrome and hyperinsulinemic hypoglycemia. (16278907)
2005
15
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy. (16459471)
2005
16
Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. (16299937)
2005
17
Persistent hyperinsulinemic hypoglycemia in 15 adults with diffuse nesidioblastosis: diagnostic criteria, incidence, and characterization of beta-cell changes. (15767809)
2005
18
Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. (16034010)
2005
19
Asymptomatic hyperinsulinemic hypoglycemia after gastric banding. (16382076)
2005
20
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. (15161766)
2004
21
Identification of a novel polymorphism in the fibronectin type II domain of the SEL1L gene and possible relation to the persistent hyperinsulinemic hypoglycemia of infancy. (15450414)
2004
22
Megestrol acetate promotes euglycemia and appetite in a child with persistent hyperinsulinemic hypoglycemia of infancy. (15124853)
2004
23
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. (12606521)
2003
24
Laparoscopic identification and removal of focal lesions in persistent hyperinsulinemic hypoglycemia of infancy. (14689291)
2003
25
The association of leukocyte adhesion defect type I and persistent hyperinsulinemic hypoglycemia of infancy in a Saudi Arabian family. (12186366)
2002
26
Persistent hyperinsulinemic hypoglycemia of infancy--successful therapy with nifedipine. (12003307)
2002
27
Persistent hyperinsulinemic hypoglycemia of infancy: experience at Siriraj Hospital. (12403226)
2002
28
Histologic findings in persistent hyperinsulinemic hypoglycemia of infancy: Australian experience. (11000331)
2000
29
Persistent hyperinsulinemic hypoglycemia with pyloric stenosis. (10951639)
2000
30
Normal growth after administration of octreotide: report on a case of persistent hyperinsulinemic hypoglycemia of infancy treated by continuous subcutaneous injection of octreotide. (12054118)
1999
31
Successful therapy with calcium channel blocker (nifedipine) in persistent neonatal hyperinsulinemic hypoglycemia of infancy. (10614546)
1999
32
Focal and Diffuse Beta Cell Changes in Persistent Hyperinsulinemic Hypoglycemia of Infancy. (12114766)
1999
33
Pancreatic B-cell proliferation in persistent hyperinsulinemic hypoglycemia of infancy: an immunohistochemical study of 18 cases. (9619597)
1998
34
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. (9648840)
1998
35
Persistent hyperinsulinemic hypoglycemia in the newborn and infants]. (9885743)
1998
36
Long-term diazoxide treatment in persistent hyperinsulinemic hypoglycemia of infancy: a patient report. (9364348)
1997
37
Mumps infection complicated by transient hyperinsulinemic hypoglycemia. (9109149)
1997
38
Nesidioblastosis in an adult with hyperinsulinemic hypoglycemia. (8793331)
1996
39
Discordance for hyperinsulinemic hypoglycemia in monozygotic twins. (7776078)
1995
40
Persistent hyperinsulinemic hypoglycemia due to nesidiodysplasia in a neonate. (7912588)
1994
41
Thermoregulatory responses to hyperinsulinemic hypoglycemia and euglycemia in humans. (7977853)
1994
42
Persistent hyperinsulinemic hypoglycemia of infancy: long-term octreotide treatment without pancreatectomy. (8410523)
1993
43
Hypertrophic cardiomyopathy after prolonged diazoxide therapy for hyperinsulinemic hypoglycemia. (2040926)
1991
44
Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): autosomal recessive inheritance in 7 pedigrees. (2260597)
1990
45
Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. (2669541)
1989
46
Fasting hyperinsulinemic hypoglycemia after ritodrine therapy for premature labor. (3627608)
1987
47
Persistent neonatal hyperinsulinemic hypoglycemia in two siblings successfully treated with diazoxide. (3818333)
1986
48
Ketonuria does not exclude hyperinsulinemic hypoglycemia. (6364785)
1984
49
Hyperinsulinemic hypoglycemia of the neonate associated with persistent fetal histology and function of the pancreas. (6244795)
1980
50
Hyperinsulinemic hypoglycemia associated with a neurofibrosarcoma. (1130933)
1975

Variations for Hyperinsulinemic Hypoglycemia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hyperinsulinemic Hypoglycemia:

1
id Gene Name Type Significance SNP ID Assembly Location
1KCNJ11NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro)single nucleotide variantPathogenicrs28936678GRCh37Chr 11, 17409199: 17409199
2KCNJ11NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter)single nucleotide variantPathogenicrs104894236GRCh37Chr 11, 17409603: 17409603
3KCNJ11NM_000525.3(KCNJ11): c.-134G> Tsingle nucleotide variantPathogenicrs387906398GRCh37Chr 11, 17409772: 17409772
4KCNJ11NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu)single nucleotide variantPathogenicrs104894237GRCh37Chr 11, 17408878: 17408878
5KCNJ11NM_000525.3(KCNJ11): c.776A> G (p.His259Arg)single nucleotide variantPathogenicrs104894248GRCh37Chr 11, 17408863: 17408863
6KCNJ11NM_000525.3(KCNJ11): c.902G> A (p.Arg301His)single nucleotide variantPathogenicrs74339576GRCh37Chr 11, 17408737: 17408737
7KCNJ11NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys)single nucleotide variantPathogenicrs267607196GRCh37Chr 11, 17408795: 17408795

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperinsulinemic Hypoglycemia

Search GEO for disease gene expression data for Hyperinsulinemic Hypoglycemia.

Pathways for genes affiliated with Hyperinsulinemic Hypoglycemia

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Sources:
51PathCards, 52PharmGKB, 56Reactome, 39NCBI BioSystems Database, 13EMD Millipore, 61Thomson Reuters, 31KEGG, 54QIAGEN
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Pathways related to Hyperinsulinemic Hypoglycemia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6KCNJ11, ABCC8
2
Show member pathways
9.6KCNJ11, ABCC8
3
Show member pathways
9.6KCNJ11, ABCC8
4
Show member pathways
9.6ABCC8, KCNJ11
59.6KCNJ11, ABCC8
6
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
9.3GCK, SLC16A1
7
Show member pathways
9.0GCK, INSR
8
Show member pathways
9.0ABCC8, KCNJ11, GCK
9
Show member pathways
8.9SLC16A1, GCK, ABCC8
108.5GCK, KCNJ11, ABCC8, HADH
11
Show member pathways
8.2GCK, INSR, KCNJ11, ABCC8
12
Show member pathways
7.9SLC16A1, GCK, KCNJ11, ABCC8, HADH

Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia

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

(show all 49)
idCompoundScoreTop Affiliating Genes
1cibenzoline4610.0ABCC8, KCNJ11
2nicorandil46 3011.0ABCC8, KCNJ11
3mgadp4610.0KCNJ11, ABCC8
4cromakalim46 3011.0KCNJ11, ABCC8
5minoxidil46 30 1212.0KCNJ11, ABCC8
6repaglinide52 46 1212.0KCNJ11, ABCC8
7nateglinide46 52 1211.8SLC16A1, ABCC8
8dids46 3010.8ABCC8, SLC16A1
9pip2469.8KCNJ11, ABCC8
10salicylic acid46 3010.7SLC16A1, ABCC8
11bicarbonate469.6SLC16A1, ABCC8
12chromium picolinate469.4GCK, INSR
133-o-methylglucose469.4GCK, INSR
14sulfonylurea469.4GCK, KCNJ11, ABCC8
15preproinsulin469.4GCK, INSR
16tolbutamide46 30 52 1212.4GCK, KCNJ11, ABCC8
17aicar46 25 1211.3GCK, INSR
18streptozotocin469.3GCK, INSR
19n-ethylmaleimide46 1210.3INSR, ABCC8
20glucosamine46 25 1211.3GCK, INSR
21potassium46 25 1211.3GCK, KCNJ11, ABCC8
222-deoxyglucose46 1210.3GCK, INSR
23gliclazide46 52 1211.2INSR, KCNJ11, ABCC8
24glimepiride46 52 1211.2ABCC8, KCNJ11, INSR
25glibenclamide46 30 52 6212.2INSR, KCNJ11, ABCC8
26magnesium46 25 1211.2ABCC8, KCNJ11, GCK
27nadh46 25 1211.1SLC16A1, GCK, HADH
28mannose 6-phosphate46 2510.1GCK, INSR
29aspartate469.0ABCC8, KCNJ11, INSR
30c-peptide469.0KCNJ11, INSR, GCK
31mannitol46 1210.0INSR, GCK
32carbohydrates469.0GCK, INSR
33verapamil46 30 52 25 1212.9INSR, KCNJ11
34katp468.9GCK, KCNJ11, ABCC8, HADH
35glutamine468.9KCNJ11, INSR, GCK
36diazoxide46 62 30 1211.9HADH, ABCC8, KCNJ11, GCK
37biotin46 25 1210.9SLC16A1, GCK, INSR
38citrate468.9INSR, GCK, SLC16A1
39glycogen46 259.9ABCC8, INSR, GCK
40leucine468.9GCK, KCNJ11, ABCC8, HADH
41atp46 309.8SLC16A1, GCK, KCNJ11, ABCC8
42fatty acid468.8HADH, ABCC8, GCK, SLC16A1
43metformin46 52 1210.6ABCC8, KCNJ11, INSR, GCK
44arginine468.5ABCC8, KCNJ11, INSR, GCK
45adp46 30 2510.5ABCC8, KCNJ11, INSR, GCK
46Adenosine triphosphate25 129.5ABCC8, KCNJ11, INSR, GCK
47calcium46 52 25 1211.4SLC16A1, GCK, KCNJ11, ABCC8
48glutamate467.6HADH, ABCC8, KCNJ11, INSR, GCK, SLC16A1
49glucose467.6HADH, ABCC8, KCNJ11, INSR, GCK, SLC16A1

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.6KCNJ11, ABCC8
2mitochondrionGO:0057398.1SLC16A1, GCK, KCNJ11, HADH

Biological processes related to Hyperinsulinemic Hypoglycemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin secretionGO:0466769.7KCNJ11, HADH
2potassium ion transmembrane transportGO:0718059.7KCNJ11, ABCC8
3energy reserve metabolic processGO:0061129.6ABCC8, KCNJ11
4positive regulation of glycolytic processGO:0458219.2GCK, INSR
5regulation of insulin secretionGO:0507969.2ABCC8, KCNJ11, GCK
6positive regulation of glycogen biosynthetic processGO:0457259.2INSR, GCK
7cellular response to insulin stimulusGO:0328699.0GCK, INSR
8transmembrane transportGO:0550858.8SLC16A1, GCK, ABCC8
9glucose homeostasisGO:0425938.7GCK, INSR
10carbohydrate metabolic processGO:0059758.7GCK, ABCC8, INSR
11small molecule metabolic processGO:0442818.2HADH, ABCC8, KCNJ11, GCK, SLC16A1

Molecular functions related to Hyperinsulinemic Hypoglycemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.6KCNJ11, ABCC8
2ATP bindingGO:0055247.9GCK, INSR, KCNJ11, ABCC8

Products for genes affiliated with Hyperinsulinemic Hypoglycemia

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  • Antibodies
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Sources for Hyperinsulinemic Hypoglycemia

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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