MCID: HYP050
MIFTS: 60

Hyperinsulinemic Hypoglycemia malady

Genetic diseases, Rare diseases, Endocrine diseases categories
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Summaries for Hyperinsulinemic Hypoglycemia

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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:8 A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.

Description from OMIM:47 606762, 609968, 601820, 609975, 256450 610021, 602485 more

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

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8Disease Ontology, 22GTR, 10DISEASES, 45Novoseek, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt, 47OMIM
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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 8 10
nesidioblastosis 8 45 62
islet cell hyperplasia 8 22
persistent hyperinsulinemia hypoglycemia of infancy 8


Related Diseases for Hyperinsulinemic Hypoglycemia

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17GeneCards, 18GeneDecks
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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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hyperinsulinemic Hypoglycemia

Search NIH Clinical Center for Hyperinsulinemic Hypoglycemia

Genetic Tests for Hyperinsulinemic Hypoglycemia

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22GTR
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Genetic tests related to Hyperinsulinemic Hypoglycemia:

id Genetic test Affiliating Genes
1 Islet Cell Hyperplasia22

Anatomical Context for Hyperinsulinemic Hypoglycemia

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33MalaCards
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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

33
Pancreas, Brain, Pancreatic islet, Spleen, Liver, B cells

Animal Models for Hyperinsulinemic Hypoglycemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

37
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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52PubMed
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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, 15Gene 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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50PathCards, 51PharmGKB, 55Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 60Thomson Reuters, 30KEGG, 53QIAGEN
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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 cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
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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45Novoseek, 29IUPHAR, 11DrugBank, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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Compounds related to Hyperinsulinemic Hypoglycemia according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1cibenzoline4510.0ABCC8, KCNJ11
2nicorandil45 2911.0ABCC8, KCNJ11
3mgadp4510.0KCNJ11, ABCC8
4cromakalim45 2911.0KCNJ11, ABCC8
5minoxidil45 29 1112.0KCNJ11, ABCC8
6repaglinide51 45 1112.0KCNJ11, ABCC8
7nateglinide45 51 1111.8SLC16A1, ABCC8
8dids45 2910.8ABCC8, SLC16A1
9pip2459.8KCNJ11, ABCC8
10salicylic acid45 2910.7SLC16A1, ABCC8
11bicarbonate459.6SLC16A1, ABCC8
12chromium picolinate459.4GCK, INSR
133-o-methylglucose459.4GCK, INSR
14sulfonylurea459.4GCK, KCNJ11, ABCC8
15preproinsulin459.4GCK, INSR
16tolbutamide45 29 51 1112.4GCK, KCNJ11, ABCC8
17aicar45 24 1111.3GCK, INSR
18streptozotocin459.3GCK, INSR
19n-ethylmaleimide45 1110.3INSR, ABCC8
20glucosamine45 24 1111.3GCK, INSR
21potassium45 24 1111.3GCK, KCNJ11, ABCC8
222-deoxyglucose45 1110.3GCK, INSR
23gliclazide45 51 1111.2INSR, KCNJ11, ABCC8
24glimepiride45 51 1111.2ABCC8, KCNJ11, INSR
25glibenclamide45 29 51 6112.2INSR, KCNJ11, ABCC8
26magnesium45 24 1111.2ABCC8, KCNJ11, GCK
27nadh45 24 1111.1SLC16A1, GCK, HADH
28mannose 6-phosphate45 2410.1GCK, INSR
29aspartate459.0ABCC8, KCNJ11, INSR
30c-peptide459.0KCNJ11, INSR, GCK
31mannitol45 1110.0INSR, GCK
32carbohydrates459.0GCK, INSR
33verapamil45 29 51 24 1112.9INSR, KCNJ11
34katp458.9GCK, KCNJ11, ABCC8, HADH
35glutamine458.9KCNJ11, INSR, GCK
36diazoxide45 61 29 1111.9HADH, ABCC8, KCNJ11, GCK
37biotin45 24 1110.9SLC16A1, GCK, INSR
38citrate458.9INSR, GCK, SLC16A1
39glycogen45 249.9ABCC8, INSR, GCK
40leucine458.9GCK, KCNJ11, ABCC8, HADH
41atp45 299.8SLC16A1, GCK, KCNJ11, ABCC8
42fatty acid458.8HADH, ABCC8, GCK, SLC16A1
43metformin45 51 1110.6ABCC8, KCNJ11, INSR, GCK
44arginine458.5ABCC8, KCNJ11, INSR, GCK
45adp45 29 2410.5ABCC8, KCNJ11, INSR, GCK
46Adenosine triphosphate24 119.5ABCC8, KCNJ11, INSR, GCK
47calcium45 51 24 1111.4SLC16A1, GCK, KCNJ11, ABCC8
48glutamate457.6HADH, ABCC8, KCNJ11, INSR, GCK, SLC16A1
49glucose457.6HADH, ABCC8, KCNJ11, INSR, GCK, SLC16A1

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet