MCID: HYP050
MIFTS: 59

Hyperinsulinemic Hypoglycemia malady

Summaries for Hyperinsulinemic Hypoglycemia

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 pancreatitis. An important gene associated with Hyperinsulinemic Hypoglycemia is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are ATP sensitive Potassium channels and Reversible Hydration of Carbon Dioxide. The compounds mannitol and minoxidil have been mentioned in the context of this disorder. Affiliated tissues include pancreas, brain and pancreatic islet, and related mouse phenotypes are liver/biliary system and cellular.

Disease Ontology:8 A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.

Description from OMIM:46 606762, 610021, 602485, 609975, 256450 609968, 601820 more

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

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8Disease Ontology, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 46OMIM, 34MeSH, 39NCIt
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Aliases & Descriptions:

hyperinsulinemic hypoglycemia 8 10
nesidioblastosis 8 44 60
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 110)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia31.9PPY, SST, ABCC8, GLUD1, INSR, SLC16A1
2pancreatitis31.1SST, PPY
3familial hyperinsulinism30.8ABCC8, GLUD1, GCK, KCNJ11, HADH
4insulinoma30.6KCNJ5, KCNJ11, GCK, PDX1, MEN1, SST
5maturity-onset diabetes of the young30.5KCNJ11, HNF4A, PDX1, GCK
6diabetes mellitus30.5GCK, PDX1, KCNJ11, PPY, SST, INSR
7hyperinsulinism-hyperammonemia syndrome30.4GLUD1
8diarrhea30.2SST, PPY
93-hydroxyacyl-coa dehydrogenase deficiency30.1HADH
10beckwith-wiedemann syndrome30.1ABCC8
11liver cirrhosis30.1INSR, GCK
12hepatitis30.1GLUD1, HNF4A
13gestational diabetes30.1ABCC8, HNF4A, KCNJ11, GCK, INSR
14glucose intolerance30.1KCNJ11, GCK, HNF4A, INSR, ABCC8
15neuroendocrine tumor30.1MEN1, SST, KRT19, ENO2
16obesity30.1ABCC8, INSR, KCNJ5, KCNJ11, GCK, HNF4A
17type 2 diabetes mellitus30.1INSR, KCNJ5, KCNJ11, HNF4A, GCK, PDX1
18hyperinsulinism30.1GCK, KCNJ5, SST, KCNJ11, HNF4A, ABCC8
19vipoma29.9SST, MEN1
20gastrinoma29.9ENO2, SST, MEN1
21thyroid medullary carcinoma29.9MEN1, SST, ENO2
22adenoma29.8ENO2, KRT19, INSR, SST, KCNJ5, HNF4A
23exercise-induced hyperinsulinemic hypoglycemia10.7
24hyperinsulinemic hypoglycemia familial 210.5
25hyperinsulinemic hypoglycemia, familial, 110.5
26hyperinsulinemic hypoglycemia familial 310.5
27hyperinsulinemic hypoglycemia, familial, 510.4
28gastrointestinal stromal tumor10.3
29hyperinsulinemic hypoglycemia, familial, 410.3
30adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.3
31islet cell tumor10.2
32secretory diarrhea10.1
33hypermethioninemia10.1
34tyrosinemia10.1
35sotos syndrome10.1
36cushing's syndrome10.1
37usher syndrome10.1
38costello syndrome10.1
39neurofibrosarcoma10.1
40west syndrome10.1
41retinitis pigmentosa10.1
42microcephaly10.1
43acquired immunodeficiency syndrome10.1
44hypertrophic cardiomyopathy10.1
45morbid obesity10.1
46duodenitis10.1
47adult syndrome10.1
48dumping syndrome10.1
49mumps10.1
50congenital disorder of glycosylation10.1

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



Diseases related to hyperinsulinemic hypoglycemia

Clinical Features for Hyperinsulinemic Hypoglycemia

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46OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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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32MalaCards
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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

32
Pancreas, Brain, Pancreatic islet, Liver, Spleen, B cells

Animal Models for Hyperinsulinemic Hypoglycemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1GCK, HNF4A, PDX1, FOXA2, MEN1, INSR
2MP:00053848.8PDX1, FOXA2, HADH, MEN1, INSR, KRT19
3MP:00053798.7SEL1L, KCNJ11, GCK, PDX1, FOXA2, HADH
4MP:00053768.4KCNJ11, GCK, HNF4A, PDX1, FOXA2, HADH
5MP:00053788.4FOXA2, PDX1, HNF4A, GCK, KCNJ11, HADH

Publications for Hyperinsulinemic Hypoglycemia

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50PubMed
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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50)    (show all 220)
idTitleAuthorsYear
1
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. (23430856)
2012
2
Food aversion among patients with persistent hyperinsulinemic hypoglycemia of infancy. (22595568)
2012
3
Genetics of congenital hyperinsulinemic hypoglycemia. (21185998)
2011
4
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. (21252247)
2011
5
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. (21956412)
2011
6
Dumping syndrome: an unusual cause of severe hyperinsulinemic hypoglycemia in neurologically impaired children with gastrostomy. (21311431)
2011
7
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. (21716120)
2011
8
Reversible hyperinsulinemic hypoglycemia after gastric bypass: a consequence of altered nutrient delivery. (20133462)
2010
9
Successful treatment of persistent hyperinsulinemic hypoglycemia with nifedipine in an adult patient. (19625246)
2010
10
Laparoscopic vs open pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. (19433178)
2009
11
Treatment of hyperinsulinemic hypoglycemia due to diffuse nesidioblastosis in adults: a case report. (19385295)
2009
12
Diffuse nesidioblastosis causing hyperinsulinemic hypoglycemia: the importance of pancreatic sampling on EUS. (18547573)
2008
13
Hyperinsulinemic hypoglycemia in adults. Case reports and a short review]. (18713705)
2008
14
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. (18268044)
2008
15
Surgical treatment of persistent hyperinsulinemic hypoglycemia (PHH) (insulinoma and nesidioblastosis). (17375321)
2007
16
Hyperinsulinemic hypoglycemia after gastric bypass surgery is not accompanied by islet hyperplasia or increased beta-cell turnover. (16801578)
2006
17
Costello syndrome and hyperinsulinemic hypoglycemia. (16278907)
2005
18
Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. (16299937)
2005
19
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels. (15811927)
2005
20
Persistent hyperinsulinemic hypoglycemia presenting with a rare complication: West syndrome. (15526728)
2004
21
Hyperinsulinemic hypoglycemia in children. (15122102)
2004
22
Laparoscopic identification and removal of focal lesions in persistent hyperinsulinemic hypoglycemia of infancy. (14689291)
2003
23
Neonates with symptomatic hyperinsulinemic hypoglycemia generate inappropriately low serum cortisol counterregulatory hormonal responses. (12970308)
2003
24
Persistent hyperinsulinemic neonatal hypoglycemia caused by focal nesidioblastosis. Preoperative diagnosis by pancreatic venous sampling. (17003005)
2003
25
ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. (12199344)
2002
26
Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia. (11445544)
2001
27
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. (11230585)
2001
28
Hyperinsulinemic hypoglycemia associated with possible hypopituitarism in a patient with acquired immunodeficiency syndrome. (11155218)
2000
29
Effects of oral glucose on systemic glucose metabolism during hyperinsulinemic hypoglycemia in normal man. (11145123)
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
Genetic mutations as a cause of hyperinsulinemic hypoglycemia in children. (10500935)
1999
32
Pancreatic B-cell proliferation in persistent hyperinsulinemic hypoglycemia of infancy: an immunohistochemical study of 18 cases. (9619597)
1998
33
Persistent hyperinsulinemic hypoglycemia of infancy. (9770886)
1998
34
Further evidence for a dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy: a family with documented hyperinsulinemia in two generations. (9626165)
1998
35
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. (9259578)
1997
36
Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. (9041101)
1997
37
An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. (9100595)
1997
38
Nesidioblastosis in an adult with hyperinsulinemic hypoglycemia. (8793331)
1996
39
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. (8751851)
1996
40
Nesidioblastosis causing reversal of insulin-dependent diabetes and development of hyperinsulinemic hypoglycemia. (8721942)
1995
41
Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. (7847376)
1995
42
Islet amyloid polypeptide in pancreatic tissue of children with persistent hyperinsulinemic hypoglycemia caused by primary islet hyperplasia and nesidioblastosis. (7539820)
1995
43
The enigma of persistent hyperinsulinemic hypoglycemia of infancy. (8410509)
1993
44
Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. (2669541)
1989
45
Factitious hyperinsulinemic hypoglycemia: confirmation of the diagnosis by a species-specific insulin radioimmunoassay. (3326893)
1987
46
Persistent neonatal hyperinsulinemic hypoglycemia in two siblings successfully treated with diazoxide. (3818333)
1986
47
Ketonuria does not exclude hyperinsulinemic hypoglycemia. (6364785)
1984
48
Pancreatic nesidioblastosis in adults. Report of a patient with hyperinsulinemic hypoglycemia. (6340549)
1983
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

Genetic Variations for Hyperinsulinemic Hypoglycemia

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Expression for genes affiliated with Hyperinsulinemic Hypoglycemia

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1BioGPS, 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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53Reactome, 29KEGG, 37NCBI BioSystems Database, 49PharmGKB, 51QIAGEN, 4Cell Signaling Technology
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Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia

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44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Hyperinsulinemic Hypoglycemia according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1mannitol44 1111.6GCK
2minoxidil44 28 1112.6ABCC8, KCNJ5
3cibenzoline4410.5KCNJ11, ABCC8
4nicorandil44 2811.5ABCC8, KCNJ11, KCNJ5
5mgadp4410.5KCNJ11, KCNJ5, ABCC8
6benzopyran4410.5ABCC8, KCNJ5
7cromakalim44 2811.5KCNJ11, ABCC8, KCNJ5
8preproinsulin4410.4PDX1, GCK, INSR
9gliclazide44 49 1112.4KCNJ11, ABCC8, INSR
10repaglinide44 49 1112.4ABCC8, KCNJ11, KCNJ5
11glipizide44 1111.4ABCC8, SST, KCNJ5
12dicyandiamide4410.4ABCC8, KCNJ5
13nateglinide44 49 1112.4KCNJ5, ABCC8, SLC16A1
14Glyburide1110.4KCNJ11, KCNJ5, ABCC8
15glimepiride44 49 1112.4ABCC8, KCNJ5, KCNJ11, INSR
16metformin44 49 1112.3GCK, INSR, KCNJ11, ABCC8
17chromium picolinate4410.3GCK, INSR
18glibenclamide44 28 49 5913.3KCNJ5, ABCC8, KCNJ11, INSR
19streptozotocin4410.2PDX1, INSR, SST, GCK
20Nicotinamide-Adenine-Dinucleotide1110.2GLUD1, HADH, GLUD2
21pinacidil4410.1ABCC8, KCNJ5
22citrate4410.1INSR, GLUD1, GCK, SLC16A1
23sulfonylurea4410.1GLUD1, PDX1, GCK, KCNJ5, KCNJ11, ABCC8
24tolbutamide44 49 28 1113.0KCNJ5, GLUD1, GCK, KCNJ11, SST, ABCC8
25nadh44 11 2412.0GCK, SLC16A1, HADH, GLUD2, GLUD1
26potassium44 11 2411.9KCNJ5, KCNJ11, GCK, GLUD1, ENO2, ABCC8
27phosphoenolpyruvate44 1110.9GLUD1, KRT19, GCK, HNF4A, ENO2
28diazoxide44 59 28 1112.9GCK, SST, GLUD1, HADH, KCNJ11, ABCC8
29alpha-ketoisocaproate449.9GCK, GLUD1
30glycerol44 11 2411.8HNF4A, GCK, INSR, GLUD1
31glutamine449.8GLUD1, ENO2, GCK, HNF4A, KCNJ11, INSR
32acetylcholine44 49 28 11 2413.8GLUD1, KCNJ5, SST, INSR, ENO2
33fatty acid449.8GCK, GLUD1, SLC16A1, HNF4A, FOXA2, HADH
34adp44 28 2411.8KCNJ5, KCNJ11, GCK, GLUD1, ABCC8, GLUD2
35c-peptide449.8SST, FOXA2, PDX1, INSR, KCNJ11, GCK
36katp449.8GCK, KCNJ5, GLUD1, KCNJ11, PDX1, FOXA2
37arginine449.7KCNJ11, HNF4A, SST, INSR, ABCC8, GLUD1
38aspartate449.7ABCC8, KRT19, ENO2, INSR, GLUD2, GLUD1
39leucine449.6HADH, HNF4A, KCNJ11, GCK, GLUD2, ENO2
40lactate449.6SLC16A1, GLUD1, SST, ENO2, GCK, KCNJ5
41glycogen44 2410.6HNF4A, GCK, FOXA2, ABCC8, INSR, ENO2
42pyruvate449.6HNF4A, GCK, KRT19, PDX1, ENO2, SLC16A1
43thymidine44 2410.6INSR, KRT19, ENO2, MEN1, HNF4A, PDX1
44testosterone44 59 11 2412.5KCNJ5, SST, ABCC8, INSR, HNF4A, ENO2
45dexamethasone44 49 28 1112.5INSR, GCK, HNF4A, SST, GLUD1, ENO2
46atp44 2810.3SLC16A1, KRT19, GLUD1, HNF4A, GCK, KCNJ11
47serine449.1PDX1, KRT19, ABCC8, HNF4A, INSR, GLUD1
48glutamate449.0HNF4A, HADH, GLUD1, GLUD2, INSR, ABCC8
49calcium44 49 11 2412.0SLC16A1, ENO2, KCNJ5, KCNJ11, KRT19, ABCC8
50glucose448.6KCNJ11, INSR, GCK, HNF4A, PDX1, FOXA2

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:0080769.8ABCC8, KCNJ11, KCNJ5
2mitochondrionGO:0057399.6SLC16A1, GLUD2, GLUD1, HADH, GCK, KCNJ11

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:05159410.4GCK, PDX1
2glutamate catabolic processGO:00653810.4GLUD2, GLUD1
3glutamate biosynthetic processGO:00653710.3GLUD2, GLUD1
4exocrine pancreas developmentGO:03101710.3PDX1, INSR
5positive regulation of glycolysisGO:04582110.3INSR, GCK
6positive regulation of insulin secretionGO:03202410.3GLUD1, PDX1, GCK
7positive regulation of glycogen biosynthetic processGO:04572510.2GCK, INSR
8regulation of insulin secretionGO:05079610.1KCNJ11, GCK, HNF4A, ABCC8
9signal transduction involved in regulation of gene expressionGO:02301910.1FOXA2, HNF4A
10endocrine pancreas developmentGO:03101810.1GCK, HNF4A, PDX1, FOXA2
11glucose homeostasisGO:0425939.9INSR, FOXA2, PDX1, HNF4A, GCK
12glucose metabolic processGO:0060069.8ENO2, PDX1, KCNJ11
13small molecule metabolic processGO:0442819.5KCNJ11, GCK, HADH, GLUD1, ABCC8, SLC16A1
14carbohydrate metabolic processGO:0059759.5GCK, INSR, ABCC8, ENO2

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

idNameGO IDScoreTop Affiliating Genes
1NAD+ bindingGO:07040310.2GLUD1, HADH
2glutamate dehydrogenase [NAD(P)+] activityGO:00435310.2GLUD1, GLUD2
3ADP bindingGO:04353110.1GLUD2, GLUD1, GCK
4glutamate dehydrogenase (NAD+) activityGO:00435210.1GLUD1, GLUD2
5leucine bindingGO:0707289.9GLUD2, GLUD1

Products for genes affiliated with Hyperinsulinemic Hypoglycemia

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Sources for Hyperinsulinemic Hypoglycemia

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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