MCID: HYP159
MIFTS: 20

Hyperinsulinism, Focal malady

Summaries for Hyperinsulinism, Focal

Sources:
33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Hyperinsulinism, Focal is related to beckwith-wiedemann syndrome and insulin resistance. An important gene associated with Hyperinsulinism, Focal is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Regulation of Insulin Secretion and Potassium Channels. The compounds minoxidil and cibenzoline have been mentioned in the context of this disorder. Affiliated tissues include pancreas and pancreatic islet.

Aliases & Classifications for Hyperinsulinism, Focal

Sources:
43NIH Rare Diseases
See all sources

Aliases & Descriptions:

hyperinsulinism, focal 43


Related Diseases for Hyperinsulinism, Focal

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Hyperinsulinism, Focal:



Diseases related to hyperinsulinism, focal

Clinical Features for Hyperinsulinism, Focal

Drugs & Therapeutics for Hyperinsulinism, Focal

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hyperinsulinism, Focal

Drug clinical trials:

Search ClinicalTrials for Hyperinsulinism, Focal

Search NIH Clinical Center for Hyperinsulinism, Focal

Search CenterWatch for Hyperinsulinism, Focal

Genetic Tests for Hyperinsulinism, Focal

Anatomical Context for Hyperinsulinism, Focal

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hyperinsulinism, Focal:

33
Pancreas, Pancreatic islet

Animal Models for Hyperinsulinism, Focal or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Hyperinsulinism, Focal

Sources:
51PubMed
See all sources

Articles related to Hyperinsulinism, Focal:

(show all 43)
idTitleAuthorsYear
1
Focal Congenital Hyperinsulinism Managed By Medical Treatment: A Diagnostic Algorithm Based On Molecular Genetic Screening. (24383515)
2014
2
Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. (23261959)
2013
3
The value of radiologic interventions and (18)F-DOPA PET in diagnosing and localizing focal congenital hyperinsulinism: systematic review and meta-analysis. (22752652)
2013
4
Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases. (24057290)
2013
5
Accuracy of PET/CT Scan in the diagnosis of the focal form of congenital hyperinsulinism. (23414871)
2013
6
The heterogeneity of focal forms of congenital hyperinsulinism. (22031516)
2012
7
Diagnostic performance of fluorine-18-dihydroxyphenylalanine positron emission tomography in diagnosing and localizing the focal form of congenital hyperinsulinism: a meta-analysis. (22885604)
2012
8
Pancreatic head resection and Roux-en-Y pancreaticojejunostomy for the treatment of the focal form of congenital hyperinsulinism. (22244405)
2012
9
Morphologic analysis of focal and diffuse forms of congenital hyperinsulinism. (21185997)
2011
10
Familial focal congenital hyperinsulinism. (20943779)
2011
11
Lasting 18F-DOPA PET uptake after clinical remission of the focal form of congenital hyperinsulinism. (21912073)
2011
12
Intraoperative sonography: a technique for localizing focal forms of congenital hyperinsulinism in the pancreas. (21305438)
2011
13
Focal congenital hyperinsulinism in a patient with septo-optic dysplasia. (20842182)
2010
14
Novel use of somatostatin receptor scintigraphy in localization of focal congenital hyperinsulinism: promising but fallible. (20020586)
2009
15
Value of 18F-fluoro-L-dopa PET in the preoperative localization of focal lesions in congenital hyperinsulinism. (19709999)
2009
16
Congenital hyperinsulinism: [F]DOPA PET/CT scan of a focal lesion in the head of the pancreas. (21687284)
2009
17
Predictive value of postoperative glycosuria after partial elective pancreatectomy in focal congenital hyperinsulinism. (18820217)
2008
18
Congenital hyperinsulinism: [18F]DOPA PET/CT scan of a focal lesion in the head of the pancreas. (18296575)
2008
19
Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism. (18073294)
2008
20
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism. (18796520)
2008
21
Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. (17895314)
2007
22
Coexistence in the same family of both focal and diffuse forms of hyperinsulinism. (17384337)
2007
23
Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. (17236890)
2007
24
Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism. (17208563)
2007
25
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. (16380471)
2006
26
Fluorine-18 L-3,4-dihydroxyphenylalanine positron emission tomography: improving surgery and outcome in focal hyperinsulinism. Commentary to Mohnike et al.: Proposal for a standardized protocol for F-DOPA-PET (PET/CT) in congenital hyperinsulinism (Horm Res 2006;66:40-42). (16710095)
2006
27
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (16357843)
2006
28
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism. (16882742)
2006
29
The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography. (16684819)
2006
30
Laparoscopic diagnosis and cure of hyperinsulinism in two cases of focal adenomatous hyperplasia in infancy. (15466080)
2004
31
A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy. (15017536)
2004
32
Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism. (14764815)
2004
33
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. (14715863)
2004
34
Blood glucose control during selective arterial stimulation and venous sampling for localization of focal hyperinsulinism lesions in anesthetized children. (15385347)
2004
35
Focal and diffuse forms of congenital hyperinsulinism: the keys for differential diagnosis. (15640550)
2004
36
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. (11395395)
2001
37
Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism. (10895035)
2000
38
Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism. (10931418)
2000
39
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. (9769320)
1998
40
Hyperinsulinism: molecular aetiology of focal disease. (10193261)
1998
41
Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia. (10189991)
1998
42
Cure of hypoglycemic hyperinsulinism by enucleation of a focal islet cell adenomatous hyperplasia. (9349791)
1997
43
Diffuse and focal sources of hyperinsulinism. (6092002)
1984

Genetic Variations for Hyperinsulinism, Focal

Expression for genes affiliated with Hyperinsulinism, Focal

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hyperinsulinism, Focal

Search GEO for disease gene expression data for Hyperinsulinism, Focal.

Pathways for genes affiliated with Hyperinsulinism, Focal

Sources:
54Reactome, 30KEGG, 50PharmGKB, 38NCBI BioSystems Database, 12EMD Millipore
See all sources

Compounds for genes affiliated with Hyperinsulinism, Focal

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Hyperinsulinism, Focal according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1minoxidil45 29 1112.3ABCC8
2cibenzoline459.5KCNJ11, ABCC8
3nicorandil45 2910.5ABCC8, KCNJ11
4mgadp459.5ABCC8, KCNJ11
5cromakalim45 2910.5KCNJ11, ABCC8
6repaglinide45 50 1111.4ABCC8, KCNJ11
7glimepiride45 50 1111.4KCNJ11, ABCC8
8gliclazide45 50 1111.4KCNJ11, ABCC8
9Glyburide119.4KCNJ11, ABCC8
10sulfonylurea459.4KCNJ11, ABCC8
11katp459.4KCNJ11, ABCC8
12diazoxide45 60 29 1112.4KCNJ11, ABCC8
13tolbutamide45 50 29 1112.3KCNJ11, ABCC8
14glibenclamide45 29 50 6012.3KCNJ11, ABCC8
15metformin45 50 1111.3ABCC8, KCNJ11
16pip2459.2ABCC8, KCNJ11
17potassium45 11 2411.2ABCC8, KCNJ11
18lysine459.1ABCC8, KCNJ11
19magnesium45 11 2411.1ABCC8, KCNJ11
20aspartate459.0ABCC8, KCNJ11
21leucine458.8ABCC8, KCNJ11

GO Terms for genes affiliated with Hyperinsulinism, Focal

Sources:
16Gene Ontology
See all sources

Cellular components related to Hyperinsulinism, Focal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.1ABCC8, KCNJ11

Biological processes related to Hyperinsulinism, Focal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1potassium ion transmembrane transportGO:0718059.1ABCC8, KCNJ11
2synaptic transmissionGO:0072689.1ABCC8, KCNJ11
3regulation of insulin secretionGO:0507969.0ABCC8, KCNJ11
4energy reserve metabolic processGO:0061128.8ABCC8, KCNJ11

Molecular functions related to Hyperinsulinism, Focal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.1ABCC8, KCNJ11

Products for genes affiliated with Hyperinsulinism, Focal

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperinsulinism, Focal

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