MCID: LCN002
MIFTS: 37

Leucine-Sensitive Hypoglycemia of Infancy malady

Genetic diseases, Rare diseases categories

Summaries for Leucine-Sensitive Hypoglycemia of Infancy

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48OMIM, 34MalaCards
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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:48 240800

Aliases & Classifications for Leucine-Sensitive Hypoglycemia of Infancy

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44NIH Rare Diseases, 23GTR, 48OMIM
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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 44
hypoglycemia leucine-induced 44 23
familial infantile hypoglycemia precipitated by leucine 44
hypoglycemia of infancy, leucine-sensitive 48
hypoglycemia leucine induced 44


Related Diseases for Leucine-Sensitive Hypoglycemia of Infancy

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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23GTR
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Genetic tests related to Leucine-Sensitive Hypoglycemia of Infancy:

id Genetic test Affiliating Genes
1 Leucine-Induced Hypoglycemia23

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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38MGI
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MGI Mouse Phenotypes related to Leucine-Sensitive Hypoglycemia of Infancy:

38
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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53PubMed
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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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65UniProtKB/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:

65
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, 16Gene 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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Sources:
51PathCards, 56Reactome, 61Thomson Reuters, 13EMD Millipore, 39NCBI BioSystems Database, 52PharmGKB, 31KEGG
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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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46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB
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Compounds related to Leucine-Sensitive Hypoglycemia of Infancy according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1cibenzoline469.8KCNJ11, ABCC8
2nicorandil46 3010.8KCNJ11, ABCC8
3mgadp469.7KCNJ11, ABCC8
4cromakalim46 3010.7ABCC8, KCNJ11
5minoxidil46 30 1211.7KCNJ11, ABCC8
6repaglinide52 46 1211.7KCNJ11, ABCC8
7gliclazide46 52 1211.7KCNJ11, ABCC8
8glimepiride46 52 1211.7ABCC8, KCNJ11
9glibenclamide46 30 52 6212.7KCNJ11, ABCC8
10c-peptide469.6GCK, KCNJ11
11pip2469.6KCNJ11, ABCC8
12alpha-ketoisocaproate469.6GCK, GLUD1
13glycerol 3-phosphate46 2510.5GCK, GLUD1
14malate469.5GCK, GLUD1
15phosphoenolpyruvate46 1210.4GLUD1, GCK
16glucose 6-phosphate46 2510.4GLUD1, GCK
17mannitol46 1210.4GLUD1, GCK
18citrate469.3GCK, GLUD1
19glycerol46 25 1211.2GCK, GLUD1
20metformin46 52 1211.2GCK, KCNJ11, ABCC8
21adenine46 25 1211.2KCNJ11, GLUD1
22acetyl-coa46 2510.2GCK, GLUD1
23valine469.2GLUD1, KCNJ11
24magnesium46 25 1211.2ABCC8, KCNJ11, GCK
25glyceraldehyde 3-phosphate469.1GLUD1, GCK
26nadh46 25 1211.1GCK, GLUD1
27Adenosine triphosphate25 1210.1GCK, KCNJ11, ABCC8
28pyruvate469.0GCK, GLUD1
29gtp46 3010.0GCK, GLUD1, ABCC8
30fatty acid469.0ABCC8, GLUD1, GCK
31glutamine468.9GCK, GLUD1, KCNJ11
32lysine468.9GLUD1, KCNJ11, ABCC8
33oxygen46 259.9GCK, GLUD1, ABCC8
34aspartate468.9GLUD1, KCNJ11, ABCC8
35cysteine468.8GCK, GLUD1, ABCC8
36sulfonylurea468.4GCK, GLUD1, KCNJ11, ABCC8
37katp468.4ABCC8, KCNJ11, GLUD1, GCK
38diazoxide46 62 30 1211.4ABCC8, KCNJ11, GLUD1, GCK
39tolbutamide46 30 52 1211.4GCK, GLUD1, KCNJ11, ABCC8
40potassium46 25 1210.4ABCC8, KCNJ11, GLUD1, GCK
41leucine468.4ABCC8, KCNJ11, GLUD1, GCK
42arginine468.4ABCC8, KCNJ11, GLUD1, GCK
43glutamate468.4ABCC8, KCNJ11, GLUD1, GCK
44adp46 30 2510.4ABCC8, KCNJ11, GLUD1, GCK
45atp46 309.4ABCC8, KCNJ11, GLUD1, GCK
46glucose468.4GCK, GLUD1, KCNJ11, ABCC8
47serine468.3GCK, GLUD1, ABCC8

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

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17Gene 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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  • Antibodies
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Sources for Leucine-Sensitive Hypoglycemia of Infancy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet