MCID: LCN002
MIFTS: 27

Leucine-Sensitive Hypoglycemia of Infancy malady

Genetic category

Summaries for Leucine-Sensitive Hypoglycemia of Infancy

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47OMIM, 33MalaCards
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MalaCards: Leucine-Sensitive Hypoglycemia of Infancy, also known as hypoglycemia leucine-induced, is related to hypoglycemia and beckwith-wiedemann syndrome. An important gene associated with Leucine-Sensitive Hypoglycemia of Infancy is ABCC8 (ATP-binding cassette, sub-family C (CFTR/MRP), member 8), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Regulation of Insulin Secretion. The compounds minoxidil and cibenzoline have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and endocrine/exocrine gland.

Description from OMIM:47 240800

Aliases & Classifications for Leucine-Sensitive Hypoglycemia of Infancy

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

leucine-sensitive hypoglycemia of infancy 43
hypoglycemia leucine-induced 43 22
familial infantile hypoglycemia precipitated by leucine 43
hypoglycemia of infancy, leucine-sensitive 47
hypoglycemia leucine induced 43


Related Diseases for Leucine-Sensitive Hypoglycemia of Infancy

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Leucine-Sensitive Hypoglycemia of Infancy:



Diseases related to leucine-sensitive hypoglycemia of infancy

Clinical Features for Leucine-Sensitive Hypoglycemia of Infancy

Sources:
47OMIM
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Clinical features from OMIM:

240800

Clinical synopsis from OMIM:

240800

Drugs & Therapeutics for Leucine-Sensitive Hypoglycemia of Infancy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Leucine-Sensitive Hypoglycemia of Infancy

Drug clinical trials:

Search ClinicalTrials for Leucine-Sensitive Hypoglycemia of Infancy

Search NIH Clinical Center for Leucine-Sensitive Hypoglycemia of Infancy

Search CenterWatch for Leucine-Sensitive Hypoglycemia of Infancy

Genetic Tests for Leucine-Sensitive Hypoglycemia of Infancy

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22GTR
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Genetic tests related to Leucine-Sensitive Hypoglycemia of Infancy:

id Genetic test Affiliating Genes
1 Leucine-induced Hypoglycemia22

Anatomical Context for Leucine-Sensitive Hypoglycemia of Infancy

Animal Models for Leucine-Sensitive Hypoglycemia of Infancy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Leucine-Sensitive Hypoglycemia of Infancy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0ABCC8, GLUD1, GCK, KCNJ11
2MP:00053797.7ABCC8, GLUD1, GCK, KCNJ11

Publications for Leucine-Sensitive Hypoglycemia of Infancy

Genetic Variations for Leucine-Sensitive Hypoglycemia of Infancy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Leucine-Sensitive Hypoglycemia of Infancy:

63
id Symbol AA change Variation SNP ID
1ABCC8p.Arg1352HisVAR_029784

Expression for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

Search GEO for disease gene expression data for Leucine-Sensitive Hypoglycemia of Infancy.

Pathways for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

Sources:
50PharmGKB, 54Reactome, 12EMD Millipore, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

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

(show all 46)
idCompoundScoreTop Affiliating Genes
1minoxidil45 29 1112.3ABCC8
2cibenzoline459.8KCNJ11, ABCC8
3nicorandil45 2910.8ABCC8, KCNJ11
4mgadp459.7KCNJ11, ABCC8
5cromakalim45 2910.7KCNJ11, ABCC8
6repaglinide45 50 1111.7KCNJ11, ABCC8
7glimepiride45 50 1111.7KCNJ11, ABCC8
8gliclazide45 50 1111.7KCNJ11, ABCC8
9Glyburide119.7ABCC8, KCNJ11
10glibenclamide45 29 50 6012.7KCNJ11, ABCC8
11pip2459.6ABCC8, KCNJ11
12alpha-ketoisocaproate459.6GLUD1, GCK
13adenine45 11 2411.5GLUD1, KCNJ11
14glycerol 3-phosphate45 2410.5GLUD1, GCK
15malate459.4GLUD1, GCK
16phosphoenolpyruvate45 1110.4GLUD1, GCK
17valine459.4KCNJ11, GLUD1
18glucose 6-phosphate45 2410.4GCK, GLUD1
19mannitol45 1110.4GCK, GLUD1
20c-peptide459.3KCNJ11, GCK
21citrate459.3GLUD1, GCK
22lysine459.2GLUD1, ABCC8, KCNJ11
23aspartate459.1KCNJ11, GLUD1, ABCC8
24glycerol45 11 2411.1GLUD1, GCK
25pyruvate459.1GCK, GLUD1
26acetyl-coa45 2410.0GCK, GLUD1
27gtp45 2910.0GCK, GLUD1, ABCC8
28fatty acid459.0GCK, GLUD1, ABCC8
29metformin45 50 1110.9ABCC8, GCK, KCNJ11
30glutamine458.9KCNJ11, GLUD1, GCK
31glyceraldehyde 3-phosphate458.8GLUD1, GCK
32oxygen45 249.8ABCC8, GLUD1, GCK
33magnesium45 11 2410.8ABCC8, KCNJ11, GCK
34Adenosine triphosphate11 249.8KCNJ11, GCK, ABCC8
35cysteine458.7ABCC8, GLUD1, GCK
36sulfonylurea458.4KCNJ11, GCK, ABCC8, GLUD1
37katp458.4ABCC8, GCK, KCNJ11, GLUD1
38diazoxide45 60 29 1111.4KCNJ11, GCK, GLUD1, ABCC8
39tolbutamide45 50 29 1111.4ABCC8, GLUD1, GCK, KCNJ11
40potassium45 11 2410.4ABCC8, KCNJ11, GLUD1, GCK
41leucine458.4GLUD1, ABCC8, GCK, KCNJ11
42arginine458.4ABCC8, KCNJ11, GLUD1, GCK
43glutamate458.4GCK, KCNJ11, GLUD1, ABCC8
44adp45 29 2410.4ABCC8, GLUD1, GCK, KCNJ11
45atp45 299.4ABCC8, GLUD1, KCNJ11, GCK
46glucose458.4GCK, ABCC8, KCNJ11, GLUD1

GO Terms for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

Sources:
16Gene Ontology
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Cellular components related to Leucine-Sensitive Hypoglycemia of Infancy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.0ABCC8, KCNJ11
2mitochondrionGO:0057398.5GLUD1, GCK, KCNJ11

Biological processes related to Leucine-Sensitive Hypoglycemia of Infancy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1energy reserve metabolic processGO:0061129.3ABCC8, KCNJ11
2potassium ion transmembrane transportGO:0718059.0ABCC8, KCNJ11
3positive regulation of insulin secretionGO:0320249.0GLUD1, GCK
4regulation of insulin secretionGO:0507968.6ABCC8, GCK, KCNJ11
5small molecule metabolic processGO:0442818.0KCNJ11, GCK, GLUD1, ABCC8

Molecular functions related to Leucine-Sensitive Hypoglycemia of Infancy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.3ABCC8, KCNJ11
2ADP bindingGO:0435319.0GLUD1, GCK
3ATP bindingGO:0055247.7ABCC8, GLUD1, GCK, KCNJ11

Products for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

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  • Proteins
  • Lysates
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Sources for Leucine-Sensitive Hypoglycemia of Infancy

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