MCID: LCN002
MIFTS: 37

Leucine-Sensitive Hypoglycemia of Infancy malady

Genetic diseases, Rare diseases categories
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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 permanent neonatal diabetes mellitus. 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 Transmission across Chemical Synapses and Development Leptin signaling via PI3K dependent pathway. The compounds cibenzoline and nicorandil 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

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

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


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

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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

Symptoms for Leucine-Sensitive Hypoglycemia of Infancy

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47OMIM
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Symptoms by clinical synopsis from OMIM:

240800

Clinical features from OMIM:

240800

Drugs & Therapeutics for Leucine-Sensitive Hypoglycemia of Infancy

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Leucine-Sensitive Hypoglycemia of Infancy

Search NIH Clinical Center 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

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

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37MGI
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MGI Mouse Phenotypes related to Leucine-Sensitive Hypoglycemia of Infancy:

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

Publications for Leucine-Sensitive Hypoglycemia of Infancy

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52PubMed
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Articles related to Leucine-Sensitive Hypoglycemia of Infancy:

idTitleAuthorsYear
1
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. (15356046)
2004

Variations for Leucine-Sensitive Hypoglycemia of Infancy

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Leucine-Sensitive Hypoglycemia of Infancy:

64
id Symbol AA change Variation ID SNP ID
1ABCC8p.Arg1352HisVAR_029784

Clinvar genetic disease variations for Leucine-Sensitive Hypoglycemia of Infancy:

1
id Gene Name Type Significance SNP ID Assembly Location
1ABCC8NM_001287174.1(ABCC8): c.4058G> A (p.Arg1353His)single nucleotide variantPathogenicrs28936370GRCh37Chr 11, 17418527: 17418527

Expression for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

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2BioGPS, 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

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50PathCards, 55Reactome, 60Thomson Reuters, 12EMD Millipore, 38NCBI BioSystems Database, 51PharmGKB, 30KEGG
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Pathways related to Leucine-Sensitive Hypoglycemia of Infancy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3KCNJ11, ABCC8
29.3KCNJ11, ABCC8
3
Show member pathways
9.3KCNJ11, ABCC8
4
Show member pathways
9.3ABCC8, KCNJ11
5
Show member pathways
9.3ABCC8, KCNJ11
69.3KCNJ11, ABCC8
78.8GCK, KCNJ11, ABCC8
8
Show member pathways
8.8GCK, KCNJ11, ABCC8
9
Show member pathways
8.8ABCC8, KCNJ11, GCK
10
Show member pathways
8.0ABCC8, KCNJ11, GLUD1, GCK

Compounds for genes affiliated with Leucine-Sensitive Hypoglycemia of Infancy

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45Novoseek, 29IUPHAR, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 24HMDB
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Compounds related to Leucine-Sensitive Hypoglycemia of Infancy according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1cibenzoline459.8KCNJ11, ABCC8
2nicorandil45 2910.8KCNJ11, ABCC8
3mgadp459.7KCNJ11, ABCC8
4cromakalim45 2910.7ABCC8, KCNJ11
5minoxidil45 29 1111.7KCNJ11, ABCC8
6repaglinide51 45 1111.7KCNJ11, ABCC8
7gliclazide45 51 1111.7KCNJ11, ABCC8
8glimepiride45 51 1111.7ABCC8, KCNJ11
9glibenclamide45 29 51 6112.7KCNJ11, ABCC8
10c-peptide459.6GCK, KCNJ11
11pip2459.6KCNJ11, ABCC8
12alpha-ketoisocaproate459.6GCK, GLUD1
13glycerol 3-phosphate45 2410.5GCK, GLUD1
14malate459.5GCK, GLUD1
15phosphoenolpyruvate45 1110.4GLUD1, GCK
16glucose 6-phosphate45 2410.4GLUD1, GCK
17mannitol45 1110.4GLUD1, GCK
18citrate459.3GCK, GLUD1
19glycerol45 24 1111.2GCK, GLUD1
20metformin45 51 1111.2GCK, KCNJ11, ABCC8
21adenine45 24 1111.2KCNJ11, GLUD1
22acetyl-coa45 2410.2GCK, GLUD1
23valine459.2GLUD1, KCNJ11
24magnesium45 24 1111.2ABCC8, KCNJ11, GCK
25glyceraldehyde 3-phosphate459.1GLUD1, GCK
26nadh45 24 1111.1GCK, GLUD1
27Adenosine triphosphate24 1110.1GCK, KCNJ11, ABCC8
28pyruvate459.0GCK, GLUD1
29gtp45 2910.0GCK, GLUD1, ABCC8
30fatty acid459.0ABCC8, GLUD1, GCK
31glutamine458.9GCK, GLUD1, KCNJ11
32lysine458.9GLUD1, KCNJ11, ABCC8
33oxygen45 249.9GCK, GLUD1, ABCC8
34aspartate458.9GLUD1, KCNJ11, ABCC8
35cysteine458.8GCK, GLUD1, ABCC8
36sulfonylurea458.4GCK, GLUD1, KCNJ11, ABCC8
37katp458.4ABCC8, KCNJ11, GLUD1, GCK
38diazoxide45 61 29 1111.4ABCC8, KCNJ11, GLUD1, GCK
39tolbutamide45 29 51 1111.4GCK, GLUD1, KCNJ11, ABCC8
40potassium45 24 1110.4ABCC8, KCNJ11, GLUD1, GCK
41leucine458.4ABCC8, KCNJ11, GLUD1, GCK
42arginine458.4ABCC8, KCNJ11, GLUD1, GCK
43glutamate458.4ABCC8, KCNJ11, GLUD1, GCK
44adp45 29 2410.4ABCC8, KCNJ11, GLUD1, GCK
45atp45 299.4ABCC8, KCNJ11, GLUD1, GCK
46glucose458.4GCK, GLUD1, KCNJ11, ABCC8
47serine458.3GCK, 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:0080769.0KCNJ11, ABCC8
2mitochondrionGO:0057398.5GCK, GLUD1, KCNJ11

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

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:0059759.4GCK, ABCC8
2potassium ion transmembrane transportGO:0718059.2KCNJ11, ABCC8
3positive regulation of insulin secretionGO:0320249.1GLUD1, GCK
4energy reserve metabolic processGO:0061129.0KCNJ11, ABCC8
5regulation of insulin secretionGO:0507968.9GCK, KCNJ11, ABCC8
6small molecule metabolic processGO:0442818.1GCK, GLUD1, KCNJ11, ABCC8

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

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.3KCNJ11, ABCC8
2ADP bindingGO:0435318.8GCK, GLUD1
3ATP bindingGO:0055247.9GCK, GLUD1, KCNJ11, ABCC8

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet