MCID: HYP050
MIFTS: 59

Hyperinsulinemic Hypoglycemia malady

Summaries for Hyperinsulinemic Hypoglycemia

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8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 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 spleen, brain and liver, 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:47 606762, 610021, 602485, 609975, 256450 609968, 601820 more

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 22GTR, 57SNOMED-CT, 47OMIM, 35MeSH, 40NCIt
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Aliases & Descriptions:

hyperinsulinemic hypoglycemia 8 10
nesidioblastosis 8 45 61
islet cell hyperplasia 8 22
persistent hyperinsulinemia hypoglycemia of infancy 8


Related Diseases for Hyperinsulinemic Hypoglycemia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hyperinsulinemic Hypoglycemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia31.9PPY, SST, ABCC8, GLUD1, INSR, SLC16A1
2familial hyperinsulinism30.8ABCC8, GLUD1, GCK, KCNJ11, HADH
3insulinoma30.7KCNJ5, KCNJ11, GCK, PDX1, MEN1, SST
4hyperinsulinism-hyperammonemia syndrome30.4GLUD1
53-hydroxyacyl-coa dehydrogenase deficiency30.2HADH
6beckwith-wiedemann syndrome30.2ABCC8
7gestational diabetes30.2ABCC8, HNF4A, KCNJ11, GCK, INSR
8glucose intolerance30.2KCNJ11, GCK, HNF4A, INSR, ABCC8
9hyperinsulinism30.2GCK, KCNJ5, SST, KCNJ11, HNF4A, ABCC8
10adenoma30.2ENO2, KRT19, INSR, SST, KCNJ5, HNF4A
11vipoma29.9SST, MEN1
12gastrinoma29.9ENO2, SST, MEN1
13thyroid medullary carcinoma29.9MEN1, SST, ENO2
14glucagonoma29.9MEN1, PDX1, ENO2, SST
15exercise-induced hyperinsulinemic hypoglycemia10.7
16hyperinsulinemic hypoglycemia familial 210.6
17hyperinsulinemic hypoglycemia, familial, 110.6
18hyperinsulinemic hypoglycemia familial 310.5
19n syndrome10.4
20hyperinsulinemic hypoglycemia, familial, 510.4
21gastrointestinal stromal tumor10.3
22hyperinsulinemic hypoglycemia, familial, 410.3
23adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.3
24secretory diarrhea10.2
25hypermethioninemia10.2
26tyrosinemia10.2
27sotos syndrome10.1
28cushing's syndrome10.1
29usher syndrome10.1
30costello syndrome10.1
31neurofibrosarcoma10.1
32west syndrome10.1
33retinitis pigmentosa10.1
34microcephaly10.1
35protein s deficiency10.1
36acquired immunodeficiency syndrome10.1
37hypertrophic cardiomyopathy10.1
38familial hypertrophic cardiomyopathy10.1
39morbid obesity10.1
40adult syndrome10.1
41dumping syndrome10.1
42protein c deficiency10.1
43mumps10.1
44char syndrome10.1
45fasting hypoglycemia10.1
46insulin autoimmune syndrome10.1
47glud1-related hyperinsulinism10.1
48diabetes, permanent neonatal10.1
49somatostatin analog10.1
50hyperinsulinism due to hnf4a deficiency10.1

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



Diseases related to hyperinsulinemic hypoglycemia

Clinical Features for Hyperinsulinemic Hypoglycemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

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

Drugs & Therapeutics for Hyperinsulinemic Hypoglycemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hyperinsulinemic Hypoglycemia:

33
Spleen, Brain, Liver, Pancreas, B cells, Fetal brain, Fetal liver, Pancreatic islet

Animal Models for Hyperinsulinemic Hypoglycemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hyperinsulinemic Hypoglycemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1FOXA2, SEL1L, INSR, MEN1, GCK, PDX1
2MP:00053848.8PDX1, HNF4A, FOXA2, HADH, MEN1, INSR
3MP:00053798.7GCK, SEL1L, KRT19, ABCC8, INSR, GLUD1
4MP:00053768.4MEN1, PDX1, FOXA2, SST, GLUD1, INSR
5MP:00053788.4HADH, MEN1, KRT19, INSR, GLUD1, SST

Publications for Hyperinsulinemic Hypoglycemia

Sources:
51PubMed
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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50)    (show all 220)
idTitleAuthorsYear
1
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
2
Hyperinsulinemic hypoglycemia: experience in a series of 17 cases. (24072082)
2013
3
Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome. (23239432)
2013
4
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. (23430856)
2012
5
Is octreotide safe for the management of persistent hyperinsulinemic hypoglycemia of infancy? (21283963)
2011
6
Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans. (21454522)
2011
7
Advances in the etiology and management of hyperinsulinemic hypoglycemia after Roux-en-Y gastric bypass. (21671112)
2011
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 with nesidioblastosis: histologic features and growth factor expression. (18931647)
2009
10
A case of gastrointestinal stromal tumor with hyperinsulinemic hypoglycemia. (18419060)
2008
11
Recent advances in hyperinsulinemic hypoglycemia of infancy. (16982483)
2006
12
Recurrent hyperinsulinemic hypoglycemia caused by an insulin-secreting insulinoma. (16932336)
2006
13
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy. (16459471)
2005
14
Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. (16291992)
2005
15
Congenital disorder of glycosylation Id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. (15840742)
2005
16
Megestrol acetate promotes euglycemia and appetite in a child with persistent hyperinsulinemic hypoglycemia of infancy. (15124853)
2004
17
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. (12606521)
2003
18
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. (12502513)
2003
19
Prolonged hyperinsulinemic hypoglycemia in a small for date preterm. (12660630)
2003
20
Persistent hyperinsulinemic hypoglycemia of infancy. (14518075)
2003
21
ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. (12199344)
2002
22
Early brain atrophy in persistent hyperinsulinemic hypoglycemia of infancy. (12410202)
2002
23
Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia. (11445544)
2001
24
Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. (11443431)
2001
25
Persistent hyperinsulinemic hypoglycemia with pyloric stenosis. (10951639)
2000
26
Hyperinsulinemic hypoglycemia associated with possible hypopituitarism in a patient with acquired immunodeficiency syndrome. (11155218)
2000
27
Two cases of persistent hyperinsulinemic hypoglycemia that showed spontaneous regression and maturation of the Langerhans islets. (11083447)
2000
28
Persistent hyperinsulinemic hypoglycemia of infancy: long-term outcome following subtotal pancreatectomy. (10689636)
2000
29
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. (10484808)
1999
30
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. (10334322)
1999
31
Insulin counterregulatory hormones are ineffective in neonatal hyperinsulinemic hypoglycemia. (10337855)
1999
32
Noninsulinoma pancreatogenous hypoglycemia: a novel syndrome of hyperinsulinemic hypoglycemia in adults independent of mutations in Kir6.2 and SUR1 genes. (10323384)
1999
33
Pancreatic B-cell proliferation in persistent hyperinsulinemic hypoglycemia of infancy: an immunohistochemical study of 18 cases. (9619597)
1998
34
Persistent hyperinsulinemic hypoglycemia in the newborn and infants]. (9885743)
1998
35
Persistent hyperinsulinemic hypoglycemia of infancy. (9770886)
1998
36
Successful control of persistent hyperinsulinemic hypoglycemia of infancy with a high dextrin formula. (9695310)
1998
37
Long-term diazoxide treatment in persistent hyperinsulinemic hypoglycemia of infancy: a patient report. (9364348)
1997
38
Diagnosis and treatment of sulfonylurea-induced hyperinsulinemic hypoglycemia. (9002583)
1997
39
Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Understanding the responsiveness of beta cells to diazoxide and somatostatin. (9312191)
1997
40
The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy. (8834059)
1996
41
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. (8923010)
1996
42
Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: high incidence of diabetes mellitus and persistent beta-cell dysfunction at long-term follow-up. (7852494)
1995
43
Persistent hyperinsulinemic hypoglycemia of infancy: long-term octreotide treatment without pancreatectomy. (8410523)
1993
44
Nesidiodysplasia: an unusual cause of hyperinsulinemic hypoglycemia in adults. (7911361)
1993
45
Somatostatin regulation of beta-cell function in the normal human fetuses and in neonates with persistent hyperinsulinemic hypoglycemia. (8093619)
1993
46
Linear growth during long-term treatment with somatostatin analog (SMS 201-995) for persistent hyperinsulinemic hypoglycemia of infancy. (2184212)
1990
47
Transient hyperinsulinemic hypoglycemia in large for date infants. (2770259)
1989
48
Persistent neonatal hyperinsulinemic hypoglycemia in two siblings successfully treated with diazoxide. (3818333)
1986
49
Ketonuria does not exclude hyperinsulinemic hypoglycemia. (6364785)
1984
50
Nesidioblastosis and other islet cell abnormalities in hyperinsulinemic hypoglycemia of childhood. (7005072)
1980

Genetic Variations for Hyperinsulinemic Hypoglycemia

Expression for genes affiliated with Hyperinsulinemic Hypoglycemia

Sources:
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 50PharmGKB, 52QIAGEN, 4Cell Signaling Technology
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Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 24HMDB
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Compounds related to Hyperinsulinemic Hypoglycemia according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1mannitol45 1111.6GCK
2minoxidil45 29 1112.6ABCC8, KCNJ5
3cibenzoline4510.5KCNJ11, ABCC8
4nicorandil45 2911.5ABCC8, KCNJ11, KCNJ5
5mgadp4510.5KCNJ11, KCNJ5, ABCC8
6benzopyran4510.5ABCC8, KCNJ5
7cromakalim45 2911.5KCNJ11, ABCC8, KCNJ5
8preproinsulin4510.4PDX1, GCK, INSR
9gliclazide45 50 1112.4KCNJ11, ABCC8, INSR
10repaglinide45 50 1112.4ABCC8, KCNJ11, KCNJ5
11glipizide45 1111.4ABCC8, SST, KCNJ5
12dicyandiamide4510.4ABCC8, KCNJ5
13nateglinide45 50 1112.4KCNJ5, ABCC8, SLC16A1
14Glyburide1110.4KCNJ11, KCNJ5, ABCC8
15glimepiride45 50 1112.4ABCC8, KCNJ5, KCNJ11, INSR
16metformin45 50 1112.3GCK, INSR, KCNJ11, ABCC8
17chromium picolinate4510.3GCK, INSR
18glibenclamide45 29 50 6013.3KCNJ5, ABCC8, KCNJ11, INSR
19streptozotocin4510.2PDX1, INSR, SST, GCK
20Nicotinamide-Adenine-Dinucleotide1110.2GLUD1, HADH, GLUD2
21pinacidil4510.1ABCC8, KCNJ5
22citrate4510.1INSR, GLUD1, GCK, SLC16A1
23sulfonylurea4510.1GLUD1, PDX1, GCK, KCNJ5, KCNJ11, ABCC8
24tolbutamide45 50 29 1113.0KCNJ5, GLUD1, GCK, KCNJ11, SST, ABCC8
25nadh45 11 2412.0GCK, SLC16A1, HADH, GLUD2, GLUD1
26potassium45 11 2411.9KCNJ5, KCNJ11, GCK, GLUD1, ENO2, ABCC8
27phosphoenolpyruvate45 1110.9GLUD1, KRT19, GCK, HNF4A, ENO2
28diazoxide45 60 29 1112.9GCK, SST, GLUD1, HADH, KCNJ11, ABCC8
29alpha-ketoisocaproate459.9GCK, GLUD1
30glycerol45 11 2411.8HNF4A, GCK, INSR, GLUD1
31glutamine459.8GLUD1, ENO2, GCK, HNF4A, KCNJ11, INSR
32acetylcholine45 50 29 11 2413.8GLUD1, KCNJ5, SST, INSR, ENO2
33fatty acid459.8GCK, GLUD1, SLC16A1, HNF4A, FOXA2, HADH
34adp45 29 2411.8KCNJ5, KCNJ11, GCK, GLUD1, ABCC8, GLUD2
35c-peptide459.8SST, FOXA2, PDX1, INSR, KCNJ11, GCK
36katp459.8GCK, KCNJ5, GLUD1, KCNJ11, PDX1, FOXA2
37arginine459.7KCNJ11, HNF4A, SST, INSR, ABCC8, GLUD1
38aspartate459.7ABCC8, KRT19, ENO2, INSR, GLUD2, GLUD1
39leucine459.6HADH, HNF4A, KCNJ11, GCK, GLUD2, ENO2
40lactate459.6SLC16A1, GLUD1, SST, ENO2, GCK, KCNJ5
41glycogen45 2410.6HNF4A, GCK, FOXA2, ABCC8, INSR, ENO2
42pyruvate459.6HNF4A, GCK, KRT19, PDX1, ENO2, SLC16A1
43thymidine45 2410.6INSR, KRT19, ENO2, MEN1, HNF4A, PDX1
44testosterone45 60 11 2412.5KCNJ5, SST, ABCC8, INSR, HNF4A, ENO2
45dexamethasone45 50 29 1112.5INSR, GCK, HNF4A, SST, GLUD1, ENO2
46atp45 2910.3SLC16A1, KRT19, GLUD1, HNF4A, GCK, KCNJ11
47serine459.1PDX1, KRT19, ABCC8, HNF4A, INSR, GLUD1
48glutamate459.0HNF4A, HADH, GLUD1, GLUD2, INSR, ABCC8
49calcium45 50 11 2412.0SLC16A1, ENO2, KCNJ5, KCNJ11, KRT19, ABCC8
50glucose458.6KCNJ11, INSR, GCK, HNF4A, PDX1, FOXA2

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia

Sources:
16Gene Ontology
See all sources

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet