MCID: LCN002
MIFTS: 34

Leucine-Sensitive Hypoglycemia of Infancy malady

Genetic diseases category

Summaries for Leucine-Sensitive Hypoglycemia of Infancy

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46OMIM, 32MalaCards
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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:46 240800

Aliases & Classifications for Leucine-Sensitive Hypoglycemia of Infancy

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42NIH Rare Diseases, 22GTR, 46OMIM
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Classifications:

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


Aliases & Descriptions:

leucine-sensitive hypoglycemia of infancy 42
hypoglycemia leucine-induced 42 22
familial infantile hypoglycemia precipitated by leucine 42
hypoglycemia of infancy, leucine-sensitive 46
hypoglycemia leucine induced 42


Related Diseases for Leucine-Sensitive Hypoglycemia of Infancy

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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

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46OMIM
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Clinical features from OMIM:

240800

Clinical synopsis from OMIM:

240800

Drugs & Therapeutics for Leucine-Sensitive Hypoglycemia of Infancy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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

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

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36MGI
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MGI Mouse Phenotypes related to Leucine-Sensitive Hypoglycemia of Infancy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.0ABCC8, GLUD1, GCK, KCNJ11
2MP:00053797.7ABCC8, GLUD1, GCK, KCNJ11

Publications for Leucine-Sensitive Hypoglycemia of Infancy

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Genetic Variations for Leucine-Sensitive Hypoglycemia of Infancy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Leucine-Sensitive Hypoglycemia of Infancy:

62
id Symbol AA change Variation ID SNP ID
1ABCC8p.Arg1352HisVAR_029784

Expression for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

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

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Pathways for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

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49PharmGKB, 53Reactome, 12EMD Millipore, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Leucine-Sensitive Hypoglycemia of Infancy according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1minoxidil44 28 1112.3ABCC8
2cibenzoline449.8ABCC8, KCNJ11
3nicorandil44 2810.8ABCC8, KCNJ11
4mgadp449.7ABCC8, KCNJ11
5cromakalim44 2810.7ABCC8, KCNJ11
6repaglinide44 49 1111.7ABCC8, KCNJ11
7glimepiride44 49 1111.7KCNJ11, ABCC8
8gliclazide44 49 1111.7ABCC8, KCNJ11
9Glyburide119.7ABCC8, KCNJ11
10glibenclamide44 28 49 5912.7KCNJ11, ABCC8
11pip2449.6ABCC8, KCNJ11
12alpha-ketoisocaproate449.6GCK, GLUD1
13adenine44 11 2411.5KCNJ11, GLUD1
14glycerol 3-phosphate44 2410.5GLUD1, GCK
15malate449.4GCK, GLUD1
16phosphoenolpyruvate44 1110.4GLUD1, GCK
17valine449.4GLUD1, KCNJ11
18glucose 6-phosphate44 2410.4GLUD1, GCK
19mannitol44 1110.4GCK, GLUD1
20c-peptide449.3KCNJ11, GCK
21citrate449.3GLUD1, GCK
22lysine449.2KCNJ11, GLUD1, ABCC8
23aspartate449.1ABCC8, GLUD1, KCNJ11
24glycerol44 11 2411.1GCK, GLUD1
25pyruvate449.1GLUD1, GCK
26acetyl-coa44 2410.0GLUD1, GCK
27gtp44 2810.0GCK, GLUD1, ABCC8
28fatty acid449.0ABCC8, GLUD1, GCK
29metformin44 49 1110.9KCNJ11, GCK, ABCC8
30glutamine448.9GLUD1, GCK, KCNJ11
31glyceraldehyde 3-phosphate448.8GLUD1, GCK
32oxygen44 249.8ABCC8, GLUD1, GCK
33magnesium44 11 2410.8ABCC8, GCK, KCNJ11
34Adenosine triphosphate11 249.8ABCC8, GCK, KCNJ11
35cysteine448.7ABCC8, GLUD1, GCK
36sulfonylurea448.4ABCC8, GLUD1, GCK, KCNJ11
37katp448.4KCNJ11, GCK, GLUD1, ABCC8
38diazoxide44 59 28 1111.4ABCC8, GLUD1, GCK, KCNJ11
39tolbutamide44 49 28 1111.4KCNJ11, GCK, GLUD1, ABCC8
40potassium44 11 2410.4ABCC8, GLUD1, GCK, KCNJ11
41leucine448.4ABCC8, GLUD1, GCK, KCNJ11
42arginine448.4KCNJ11, GCK, GLUD1, ABCC8
43glutamate448.4ABCC8, GLUD1, GCK, KCNJ11
44adp44 28 2410.4KCNJ11, GCK, GLUD1, ABCC8
45atp44 289.4KCNJ11, GCK, GLUD1, ABCC8
46glucose448.4KCNJ11, GCK, GLUD1, ABCC8

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

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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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Sources for Leucine-Sensitive Hypoglycemia of Infancy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet