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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MalaCards based summary: Leucine-Sensitive Hypoglycemia of Infancy, also known as hypoglycemia leucine-induced, is related to hypoglycemia and permanent neonatal diabetes mellitus, and has symptoms including 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:46 240800

Aliases & Classifications for Leucine-Sensitive Hypoglycemia of Infancy

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Leucine-Sensitive Hypoglycemia of Infancy, Aliases & Descriptions:

Name: Leucine-Sensitive Hypoglycemia of Infancy 42 62
Hypoglycemia Leucine-Induced 42 22
Familial Infantile Hypoglycemia Precipitated by Leucine 42
 
Hypoglycemia of Infancy, Leucine-Sensitive 46
Hypoglycemia Leucine Induced 42


Classifications:

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


Related Diseases for Leucine-Sensitive Hypoglycemia of Infancy

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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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Symptoms by clinical synopsis from OMIM:

240800

Clinical features from OMIM:

240800

HPO human phenotypes related to Leucine-Sensitive Hypoglycemia of Infancy:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 strabismus HP:0000486
4 irritability HP:0000737
5 hyperinsulinemic hypoglycemia HP:0000825
6 intellectual disability HP:0001249
7 ataxia HP:0001251
8 spasticity HP:0001257
9 coma HP:0001259
10 hyperreflexia HP:0001347
11 hypoglycemia HP:0001943
12 drowsiness HP:0002329

Drugs & Therapeutics for Leucine-Sensitive Hypoglycemia of Infancy

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Drug clinical trials:

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Search NIH Clinical Center for Leucine-Sensitive Hypoglycemia of Infancy

Genetic Tests for Leucine-Sensitive Hypoglycemia of Infancy

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

36
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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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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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:

6
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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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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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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Compounds related to Leucine-Sensitive Hypoglycemia of Infancy according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1cibenzoline449.8KCNJ11, ABCC8
2nicorandil44 2810.8KCNJ11, ABCC8
3mgadp449.7KCNJ11, ABCC8
4cromakalim44 2810.7ABCC8, KCNJ11
5minoxidil44 28 1111.7KCNJ11, ABCC8
6repaglinide50 44 1111.7KCNJ11, ABCC8
7gliclazide44 50 1111.7KCNJ11, ABCC8
8glimepiride44 50 1111.7ABCC8, KCNJ11
9glibenclamide44 28 50 6112.7KCNJ11, ABCC8
10c-peptide449.6GCK, KCNJ11
11pip2449.6KCNJ11, ABCC8
12alpha-ketoisocaproate449.6GCK, GLUD1
13glycerol 3-phosphate44 2410.5GCK, GLUD1
14malate449.5GCK, GLUD1
15phosphoenolpyruvate44 1110.4GLUD1, GCK
16glucose 6-phosphate44 2410.4GLUD1, GCK
17mannitol44 1110.4GLUD1, GCK
18citrate449.3GCK, GLUD1
19glycerol44 24 1111.2GCK, GLUD1
20metformin44 50 1111.2GCK, KCNJ11, ABCC8
21adenine44 24 1111.2KCNJ11, GLUD1
22acetyl-coa44 2410.2GCK, GLUD1
23valine449.2GLUD1, KCNJ11
24magnesium44 24 1111.2ABCC8, KCNJ11, GCK
25glyceraldehyde 3-phosphate449.1GLUD1, GCK
26nadh44 24 1111.1GCK, GLUD1
27Adenosine triphosphate24 1110.1GCK, KCNJ11, ABCC8
28pyruvate449.0GCK, GLUD1
29gtp44 2810.0GCK, GLUD1, ABCC8
30fatty acid449.0ABCC8, GLUD1, GCK
31glutamine448.9GCK, GLUD1, KCNJ11
32lysine448.9GLUD1, KCNJ11, ABCC8
33oxygen44 249.9GCK, GLUD1, ABCC8
34aspartate448.9GLUD1, KCNJ11, ABCC8
35cysteine448.8GCK, GLUD1, ABCC8
36sulfonylurea448.4GCK, GLUD1, KCNJ11, ABCC8
37katp448.4ABCC8, KCNJ11, GLUD1, GCK
38diazoxide44 61 28 1111.4ABCC8, KCNJ11, GLUD1, GCK
39tolbutamide44 28 50 1111.4GCK, GLUD1, KCNJ11, ABCC8
40potassium44 24 1110.4ABCC8, KCNJ11, GLUD1, GCK
41leucine448.4ABCC8, KCNJ11, GLUD1, GCK
42arginine448.4ABCC8, KCNJ11, GLUD1, GCK
43glutamate448.4ABCC8, KCNJ11, GLUD1, GCK
44adp44 28 2410.4ABCC8, KCNJ11, GLUD1, GCK
45atp44 289.4ABCC8, KCNJ11, GLUD1, GCK
46glucose448.4GCK, GLUD1, KCNJ11, ABCC8
47serine448.3GCK, GLUD1, ABCC8

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

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet