MCID: HYP050
MIFTS: 61

Hyperinsulinemic Hypoglycemia malady

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

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Wikipedia:65 Hyperinsulinemic hypoglycemia describes the condition and effects of low blood glucose caused by... more...

MalaCards based summary: Hyperinsulinemic Hypoglycemia, also known as islet cell hyperplasia, is related to hypoglycemia and 3-hydroxyacyl-coa dehydrogenase deficiency. 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.

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

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 22GTR, 57SNOMED-CT, 39NCIt, 46OMIM, 34MeSH
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Hyperinsulinemic Hypoglycemia, Aliases & Descriptions:

Name: Hyperinsulinemic Hypoglycemia 8 10
Islet Cell Hyperplasia 8 22 62
 
Nesidioblastosis 8 44 62
Persistent Hyperinsulinemia Hypoglycemia of Infancy 8 62


Classifications:



Related Diseases for Hyperinsulinemic Hypoglycemia

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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 73)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia30.8HADH, ABCC8, KCNJ11, INSR, GCK, SLC16A1
23-hydroxyacyl-coa dehydrogenase deficiency30.7HADH
3maturity-onset diabetes of the young30.7GCK, KCNJ11
4familial hyperinsulinism30.6GCK, KCNJ11, ABCC8, HADH
5insulinoma30.2ABCC8, KCNJ11, INSR, GCK
6hyperinsulinism30.1GCK, INSR, KCNJ11, ABCC8
7diabetes mellitus29.9ABCC8, KCNJ11, INSR, GCK
8glucose intolerance29.9GCK, INSR
9liver cirrhosis29.8INSR, GCK
10gestational diabetes29.7ABCC8, KCNJ11, INSR, GCK
11type 2 diabetes mellitus29.6ABCC8, KCNJ11, INSR, GCK
12obesity29.6ABCC8, KCNJ11, INSR, GCK
13pancreatitis10.8
14exercise-induced hyperinsulinemic hypoglycemia10.8
15hyperinsulinemic hypoglycemia familial 210.6
16hyperinsulinemic hypoglycemia, familial, 110.6
17hyperinsulinemic hypoglycemia familial 310.6
18hyperinsulinemic hypoglycemia, familial, 510.5
19gastrointestinal stromal tumor10.3
20hyperinsulinism-hyperammonemia syndrome10.3
21hyperinsulinemic hypoglycemia, familial, 410.3
22adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.3
23islet cell tumor10.2
24secretory diarrhea10.2
25hypermethioninemia10.2
26diarrhea10.2
27tyrosinemia10.2
28west syndrome10.2
29beckwith-wiedemann syndrome10.2
30hepatitis10.2
31morbid obesity10.2
32sotos syndrome10.2
33dumping syndrome10.2
34acquired immunodeficiency syndrome10.2
35hypertrophic cardiomyopathy10.2
36mumps10.2
37cushing's syndrome10.2
38costello syndrome10.2
39microcephaly10.2
40duodenitis10.2
41neurofibrosarcoma10.2
42congenital disorder of glycosylation10.2
43hypopituitarism10.2
44neuroblastoma10.2
45neuroendocrine tumor10.2
46pyloric stenosis10.2
47fetal macrosomia10.2
48insulin autoimmune syndrome10.2
493-hydroxyacyl-coenzyme a dehydrogenase deficiency10.2
50pancreatic endocrine tumors10.2

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



Diseases related to hyperinsulinemic hypoglycemia

Symptoms for Hyperinsulinemic Hypoglycemia

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Clinical features from OMIM:

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

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

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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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Genetic tests related to Hyperinsulinemic Hypoglycemia:

id Genetic test Affiliating Genes
1 Islet Cell Hyperplasia22

Anatomical Context for Hyperinsulinemic Hypoglycemia

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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

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

Animal Models for Hyperinsulinemic Hypoglycemia or affiliated genes

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MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

36
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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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50)    (show all 227)
idTitleAuthorsYear
1
Sirolimus in severe hyperinsulinemic hypoglycemia. (24941188)
2014
2
Poor pregnancy outcome after octreotide treatment during pregnancy for familial hyperinsulinemic hypoglycemia: a case report. (25404386)
2014
3
Inhibition of insulin receptor function by a human, allosteric monoclonal antibody: A potential new approach for the treatment of hyperinsulinemic hypoglycemia. (24423625)
2014
4
Hyperinsulinemic hypoglycemia syndrome in 2 dogs with bartonellosis. (24934703)
2014
5
Treatment of hyperinsulinemic hypoglycemia because of diffuse nesidioblastosis with nifedipine after surgical therapies in a newborn. (23751383)
2013
6
Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management. (23384201)
2013
7
Limited value of 18F-F-DOPA PET to localize pancreatic insulin-secreting tumors in adults with hyperinsulinemic hypoglycemia. (19915018)
2010
8
Severe dietary protein sensitivity and hyperinsulinemic hypoglycemia in a patient with heterozygous mutation in HADH gene. (21175096)
2010
9
Persistent hyperinsulinemic hypoglycemia of infancy: constitutive activation of the mTOR pathway with associated exocrine-islet transdifferentiation and therapeutic implications. (20830240)
2010
10
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation. (20042013)
2010
11
Diffuse nesidioblastosis causing hyperinsulinemic hypoglycemia: the importance of pancreatic sampling on EUS. (18547573)
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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Clinvar genetic disease variations for Hyperinsulinemic Hypoglycemia:

6
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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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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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 cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
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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Compounds related to Hyperinsulinemic Hypoglycemia according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1cibenzoline4410.0ABCC8, KCNJ11
2nicorandil44 2811.0ABCC8, KCNJ11
3mgadp4410.0KCNJ11, ABCC8
4cromakalim44 2811.0KCNJ11, ABCC8
5minoxidil44 28 1112.0KCNJ11, ABCC8
6repaglinide50 44 1112.0KCNJ11, ABCC8
7nateglinide44 50 1111.8SLC16A1, ABCC8
8dids44 2810.8ABCC8, SLC16A1
9pip2449.8KCNJ11, ABCC8
10salicylic acid44 2810.7SLC16A1, ABCC8
11bicarbonate449.6SLC16A1, ABCC8
12chromium picolinate449.4GCK, INSR
133-o-methylglucose449.4GCK, INSR
14sulfonylurea449.4GCK, KCNJ11, ABCC8
15preproinsulin449.4GCK, INSR
16tolbutamide44 28 50 1112.4GCK, KCNJ11, ABCC8
17aicar44 24 1111.3GCK, INSR
18streptozotocin449.3GCK, INSR
19n-ethylmaleimide44 1110.3INSR, ABCC8
20glucosamine44 24 1111.3GCK, INSR
21potassium44 24 1111.3GCK, KCNJ11, ABCC8
222-deoxyglucose44 1110.3GCK, INSR
23gliclazide44 50 1111.2INSR, KCNJ11, ABCC8
24glimepiride44 50 1111.2ABCC8, KCNJ11, INSR
25glibenclamide44 28 50 6112.2INSR, KCNJ11, ABCC8
26magnesium44 24 1111.2ABCC8, KCNJ11, GCK
27nadh44 24 1111.1SLC16A1, GCK, HADH
28mannose 6-phosphate44 2410.1GCK, INSR
29aspartate449.0ABCC8, KCNJ11, INSR
30c-peptide449.0KCNJ11, INSR, GCK
31mannitol44 1110.0INSR, GCK
32carbohydrates449.0GCK, INSR
33verapamil44 28 50 24 1112.9INSR, KCNJ11
34katp448.9GCK, KCNJ11, ABCC8, HADH
35glutamine448.9KCNJ11, INSR, GCK
36diazoxide44 61 28 1111.9HADH, ABCC8, KCNJ11, GCK
37biotin44 24 1110.9SLC16A1, GCK, INSR
38citrate448.9INSR, GCK, SLC16A1
39glycogen44 249.9ABCC8, INSR, GCK
40leucine448.9GCK, KCNJ11, ABCC8, HADH
41atp44 289.8SLC16A1, GCK, KCNJ11, ABCC8
42fatty acid448.8HADH, ABCC8, GCK, SLC16A1
43metformin44 50 1110.6ABCC8, KCNJ11, INSR, GCK
44arginine448.5ABCC8, KCNJ11, INSR, GCK
45adp44 28 2410.5ABCC8, KCNJ11, INSR, GCK
46Adenosine triphosphate24 119.5ABCC8, KCNJ11, INSR, GCK
47calcium44 50 24 1111.4SLC16A1, GCK, KCNJ11, ABCC8
48glutamate447.6HADH, ABCC8, KCNJ11, INSR, GCK, SLC16A1
49glucose447.6HADH, ABCC8, KCNJ11, INSR, GCK, SLC16A1

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia

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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:0061129.6KCNJ11, ABCC8
4positive regulation of glycolytic processGO:0458219.2GCK, INSR
5regulation of insulin secretionGO:0507969.2GCK, KCNJ11, ABCC8
6positive regulation of glycogen biosynthetic processGO:0457259.2GCK, INSR
7cellular response to insulin stimulusGO:0328699.0GCK, INSR
8transmembrane transportGO:0550858.8ABCC8, GCK, SLC16A1
9glucose homeostasisGO:0425938.7GCK, INSR
10carbohydrate metabolic processGO:0059758.7ABCC8, INSR, GCK
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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet