MCID: HYP050
MIFTS: 53

Hyperinsulinemic Hypoglycemia malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Aliases & Classifications for Hyperinsulinemic Hypoglycemia

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH
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Hyperinsulinemic Hypoglycemia, Aliases & Descriptions:

Name: Hyperinsulinemic Hypoglycemia 9 11
Nesidioblastosis 9 43 60
Islet Cell Hyperplasia 9 22
 
Persistent Hyperinsulinemia Hypoglycemia of Infancy 9
Hyperinsulinism, Familial 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:13317
NCIt38 C4375
MeSH33 D046768

Summaries for Hyperinsulinemic Hypoglycemia

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Wikipedia:63 Hyperinsulinemic hypoglycemia describes the condition and effects of low blood glucose caused by... more...

MalaCards based summary: Hyperinsulinemic Hypoglycemia, also known as nesidioblastosis, is related to 3-hydroxyacyl-coa dehydrogenase deficiency and maturity-onset diabetes of the young. 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 Development Leptin signaling via PI3K dependent pathway. 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 growth/size/body and endocrine/exocrine gland.

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

Related Diseases for Hyperinsulinemic Hypoglycemia

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Diseases in the Hyperinsulinemic Hypoglycemia family:

Hyperinsulinemic Hypoglycemia, Familial, 7 Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic Hypoglycemia, Familial, 2 Hyperinsulinemic Hypoglycemia, Familial, 5

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

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
13-hydroxyacyl-coa dehydrogenase deficiency31.1HADH
2maturity-onset diabetes of the young30.8GCK, KCNJ11
3hypoglycemia30.6INSR, SLC16A1, GLUD1, KCNJ11, GCK, HADH
4hyperinsulinemic hypoglycemia, familial, 230.4HADH, ABCC8, KCNJ11, GLUD1, GCK
5glucose intolerance30.1INSR, GCK
6insulinoma30.1ABCC8, KCNJ11, INSR, GCK, GLUD1
7obesity29.9ABCC8, KCNJ11, INSR, GCK
8hyperinsulinism29.7KCNJ11, GCK, ABCC8, GLUD1, INSR
9hyperinsulinemic hypoglycemia, familial, 710.8
10pancreatitis10.8
11hyperinsulinemic hypoglycemia, familial, 310.6
12hyperinsulinemic hypoglycemia, familial, 110.6
13hyperinsulinemic hypoglycemia, familial, 410.6
14hyperinsulinemic hypoglycemia, familial, 510.6
15hyperinsulinism-hyperammonemia syndrome10.5
16adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia10.4
17gastrointestinal stromal tumor10.3
18hyperinsulinism due to glucokinase deficiency10.3
19exercise-induced hyperinsulinism10.3
20hyperinsulinism due to insr deficiency10.3
21islet cell tumor10.2
22perlman syndrome10.2
23tyrosinemia, type i10.2
24simpson-golabi-behmel syndrome, type 110.2
25greenberg skeletal dysplasia10.2
26leprechaunism10.2
27hypermethioninemia10.2
28diarrhea10.2
29secretory diarrhea10.2
30tyrosinemia10.2
31diabetes mellitus, permanent neonatal10.2ABCC8, GCK
32microcephaly, short stature, and impaired glucose metabolism10.2
33beckwith-wiedemann syndrome10.2
34costello syndrome10.2
35congenital disorder of glycosylation, type ib10.2
36neuroblastoma10.2
37hypoglycemia of infancy, leucine-sensitive10.2
38west syndrome10.2
39hepatitis10.2
40liver cirrhosis10.2
41morbid obesity10.2
42retinitis pigmentosa10.2
43microcephaly10.2
44acquired immunodeficiency syndrome10.2
45hypertrophic cardiomyopathy10.2
46duodenitis10.2
47mumps10.2
48cushing's syndrome10.2
49neurofibrosarcoma10.2
50dumping syndrome10.2

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



Diseases related to hyperinsulinemic hypoglycemia

Symptoms for Hyperinsulinemic Hypoglycemia

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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:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.9GCK, GLUD1, INSR, KCNJ11, HADH
2MP:00053797.4GCK, GLUD1, INSR, KCNJ11, ABCC8, HADH
3MP:00053767.2HADH, ABCC8, KCNJ11, INSR, GLUD1, GCK

Publications for Hyperinsulinemic Hypoglycemia

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Articles related to Hyperinsulinemic Hypoglycemia:

(show top 50)    (show all 231)
idTitleAuthorsYear
1
Hyperinsulinemic hypoglycemia syndrome associated with mutations in the human insulin receptor gene: Report of two cases. (25753915)
2015
2
Sirolimus in severe hyperinsulinemic hypoglycemia. (24941188)
2014
3
Poor pregnancy outcome after octreotide treatment during pregnancy for familial hyperinsulinemic hypoglycemia: a case report. (25404386)
2014
4
Inhibition of insulin receptor function by a human, allosteric monoclonal antibody: A potential new approach for the treatment of hyperinsulinemic hypoglycemia. (24423625)
2014
5
Hyperinsulinemic hypoglycemia syndrome in 2 dogs with bartonellosis. (24934703)
2014
6
Treatment of hyperinsulinemic hypoglycemia because of diffuse nesidioblastosis with nifedipine after surgical therapies in a newborn. (23751383)
2013
7
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
8
Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management. (23384201)
2013
9
Limited value of 18F-F-DOPA PET to localize pancreatic insulin-secreting tumors in adults with hyperinsulinemic hypoglycemia. (19915018)
2010
10
Severe dietary protein sensitivity and hyperinsulinemic hypoglycemia in a patient with heterozygous mutation in HADH gene. (21175096)
2010
11
Persistent hyperinsulinemic hypoglycemia of infancy: constitutive activation of the mTOR pathway with associated exocrine-islet transdifferentiation and therapeutic implications. (20830240)
2010
12
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation. (20042013)
2010
13
Diffuse nesidioblastosis causing hyperinsulinemic hypoglycemia: the importance of pancreatic sampling on EUS. (18547573)
2008
14
Diffuse nesidioblastosis as a cause of hyperinsulinemic hypoglycemia in adults: a diagnostic and therapeutic challenge. (17263973)
2007
15
Costello syndrome and hyperinsulinemic hypoglycemia. (16278907)
2005
16
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy. (16459471)
2005
17
Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. (16299937)
2005
18
Persistent hyperinsulinemic hypoglycemia in 15 adults with diffuse nesidioblastosis: diagnostic criteria, incidence, and characterization of beta-cell changes. (15767809)
2005
19
Hyperinsulinemic hypoglycemia with nesidioblastosis after gastric-bypass surgery. (16034010)
2005
20
Asymptomatic hyperinsulinemic hypoglycemia after gastric banding. (16382076)
2005
21
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. (15161766)
2004
22
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
23
Megestrol acetate promotes euglycemia and appetite in a child with persistent hyperinsulinemic hypoglycemia of infancy. (15124853)
2004
24
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. (12606521)
2003
25
Laparoscopic identification and removal of focal lesions in persistent hyperinsulinemic hypoglycemia of infancy. (14689291)
2003
26
The association of leukocyte adhesion defect type I and persistent hyperinsulinemic hypoglycemia of infancy in a Saudi Arabian family. (12186366)
2002
27
Persistent hyperinsulinemic hypoglycemia of infancy--successful therapy with nifedipine. (12003307)
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 Variation Type Significance SNP ID Assembly Location
1ABCC8NM_001287174.1(ABCC8): c.4309C> T (p.Arg1437Ter)single nucleotide variantPathogenicrs193922402GRCh37Chr 11, 17417158: 17417158
2KCNJ11NM_000525.3(KCNJ11): c.440T> C (p.Leu147Pro)single nucleotide variantPathogenicrs28936678GRCh37Chr 11, 17409199: 17409199
3KCNJ11NM_000525.3(KCNJ11): c.36C> A (p.Tyr12Ter)single nucleotide variantPathogenicrs104894236GRCh37Chr 11, 17409603: 17409603
4KCNJ11NM_000525.3(KCNJ11): c.-134G> Tsingle nucleotide variantPathogenicrs387906398GRCh37Chr 11, 17409772: 17409772
5KCNJ11NM_000525.3(KCNJ11): c.761C> T (p.Pro254Leu)single nucleotide variantPathogenicrs104894237GRCh37Chr 11, 17408878: 17408878
6KCNJ11NM_000525.3(KCNJ11): c.776A> G (p.His259Arg)single nucleotide variantPathogenicrs104894248GRCh37Chr 11, 17408863: 17408863
7KCNJ11NM_000525.3(KCNJ11): c.902G> A (p.Arg301His)single nucleotide variantPathogenicrs74339576GRCh37Chr 11, 17408737: 17408737
8KCNJ11NM_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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KCNJ11, ABCC8
29.8KCNJ11, ABCC8
3
Show member pathways
9.8KCNJ11, ABCC8
4
Show member pathways
9.5GCK, INSR
5
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
9.4GCK, SLC16A1
6
Show member pathways
9.3ABCC8, KCNJ11, GCK
7
Show member pathways
9.0SLC16A1, GCK, ABCC8
88.9GCK, KCNJ11, ABCC8, HADH
9
Show member pathways
8.8ABCC8, KCNJ11, INSR, GCK
10
Show member pathways
6.9HADH, ABCC8, KCNJ11, ALG3, GLUD1, GCK

Compounds for genes affiliated with Hyperinsulinemic Hypoglycemia

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Compounds related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1cibenzoline4310.2KCNJ11, ABCC8
2nicorandil43 2811.1ABCC8, KCNJ11
3mgadp4310.1ABCC8, KCNJ11
4cromakalim43 2811.1ABCC8, KCNJ11
5minoxidil43 28 1212.1ABCC8, KCNJ11
6repaglinide49 43 1212.0ABCC8, KCNJ11
7chromium picolinate439.9GCK, INSR
83-o-methylglucose439.9INSR, GCK
9preproinsulin439.8GCK, INSR
10D-Mannose249.8GCK, ALG3
11nateglinide43 49 1211.7ABCC8, SLC16A1
12dids43 2810.7SLC16A1, ABCC8
13gliclazide43 49 1211.7ABCC8, KCNJ11, INSR
14glimepiride43 49 1211.7INSR, KCNJ11, ABCC8
15glibenclamide43 28 49 5912.6INSR, KCNJ11, ABCC8
16alpha-ketoisocaproate439.6GCK, GLUD1
17aicar43 24 1211.6GCK, INSR
18c-peptide439.6KCNJ11, INSR, GCK
19streptozotocin439.4GCK, INSR
20beta-hydroxybutyrate439.3GLUD1, SLC16A1
21gamma-hydroxybutyrate439.3GLUD1, SLC16A1
22glutaraldehyde439.3GLUD1, INSR
23biotin43 24 1211.2INSR, GCK, SLC16A1
24glycogen43 2410.2ABCC8, INSR, GCK
25metformin43 49 1211.2ABCC8, KCNJ11, INSR, GCK
26valine439.1KCNJ11, INSR, GLUD1
27mannitol43 1210.0INSR, GLUD1, GCK
28Adenosine triphosphate24 1210.0GCK, INSR, KCNJ11, ABCC8
29glycerol43 24 1211.0GCK, GLUD1, INSR
30sulfonylurea438.9ABCC8, KCNJ11, GLUD1, GCK
31tolbutamide43 28 49 1211.9GCK, GLUD1, KCNJ11, ABCC8
32glycerol 3-phosphate43 249.9GCK, GLUD1
33potassium43 24 1210.9GCK, GLUD1, KCNJ11, ABCC8
34pyruvate438.8SLC16A1, GCK, GLUD1
35gtp43 289.8ABCC8, GLUD1, GCK
36aspartate438.8GLUD1, INSR, KCNJ11, ABCC8
37glutamine438.7GCK, GLUD1, INSR, KCNJ11
38nadh43 24 1210.6HADH, GLUD1, GCK, SLC16A1
39hydrogen43 249.6SLC16A1, GCK, GLUD1
40katp438.5GCK, GLUD1, KCNJ11, ABCC8, HADH
41diazoxide43 59 28 1211.5HADH, ABCC8, KCNJ11, GLUD1, GCK
42leucine438.5HADH, ABCC8, KCNJ11, GLUD1, GCK
43citrate438.5INSR, GLUD1, GCK, SLC16A1
44cysteine438.5ABCC8, INSR, GLUD1, GCK
45arginine438.4ABCC8, KCNJ11, INSR, GLUD1, GCK
46adp43 28 2410.4GCK, GLUD1, INSR, KCNJ11, ABCC8
47atp43 289.3ABCC8, KCNJ11, GLUD1, GCK, SLC16A1
48fatty acid438.2SLC16A1, GCK, GLUD1, ABCC8, HADH
49glutamate437.4HADH, ABCC8, KCNJ11, INSR, GLUD1, GCK
50glucose437.4HADH, ABCC8, KCNJ11, INSR, GLUD1, GCK

GO Terms for genes affiliated with Hyperinsulinemic Hypoglycemia

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Cellular components related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:00080769.8KCNJ11, ABCC8
2mitochondrionGO:00057397.5SLC16A1, GCK, GLUD1, KCNJ11, HADH

Biological processes related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of insulin secretionGO:00466769.9KCNJ11, HADH
2potassium ion transmembrane transportGO:00718059.8KCNJ11, ABCC8
3energy reserve metabolic processGO:00061129.8KCNJ11, ABCC8
4positive regulation of glycolytic processGO:00458219.7GCK, INSR
5positive regulation of glycogen biosynthetic processGO:00457259.7GCK, INSR
6regulation of insulin secretionGO:00507969.5ABCC8, KCNJ11, GCK
7cellular response to insulin stimulusGO:00328699.5INSR, GCK
8glucose homeostasisGO:00425939.4GCK, INSR
9positive regulation of insulin secretionGO:00320249.3GLUD1, GCK
10carbohydrate metabolic processGO:00059759.2GCK, INSR, ABCC8
11transmembrane transportGO:00550858.7SLC16A1, GCK, ABCC8
12small molecule metabolic processGO:00442817.7SLC16A1, GCK, GLUD1, KCNJ11, ABCC8, HADH

Molecular functions related to Hyperinsulinemic Hypoglycemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.8KCNJ11, ABCC8
2NAD+ bindingGO:00704039.1HADH, GLUD1
3ADP bindingGO:00435318.9GCK, GLUD1
4ATP bindingGO:00055248.0GCK, GLUD1, INSR, KCNJ11, ABCC8

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet