MCID: HYP619
MIFTS: 30

Hypoglycemia of Infancy, Leucine-Sensitive malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Hypoglycemia of Infancy, Leucine-Sensitive

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Aliases & Descriptions for Hypoglycemia of Infancy, Leucine-Sensitive:

Name: Hypoglycemia of Infancy, Leucine-Sensitive 49 11
Leucine-Sensitive Hypoglycemia of Infancy 45 67
Hypoglycemia Leucine-Induced 45 24
Familial Infantile Hypoglycemia Precipitated by Leucine 45
 
Hypoglycemia, Leucine-Induced 65
Leucine-Induced Hypoglycemia 67
Hypoglycemia Leucine Induced 45
Lih 67


Classifications:



External Ids:

OMIM49 240800
MedGen34 C0271714

Summaries for Hypoglycemia of Infancy, Leucine-Sensitive

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UniProtKB/Swiss-Prot:67 Leucine-induced hypoglycemia: Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.

MalaCards based summary: Hypoglycemia of Infancy, Leucine-Sensitive, also known as leucine-sensitive hypoglycemia of infancy, is related to hypoglycemia and hypoglycemia of infancy, leucine-sensitive, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and strabismus. An important gene associated with Hypoglycemia of Infancy, Leucine-Sensitive is ABCC8 (ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 8), and among its related pathways are Potassium Channels and Integration of energy metabolism.

Description from OMIM:49 240800

Related Diseases for Hypoglycemia of Infancy, Leucine-Sensitive

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Graphical network of the top 20 diseases related to Hypoglycemia of Infancy, Leucine-Sensitive:



Diseases related to hypoglycemia of infancy, leucine-sensitive

Symptoms for Hypoglycemia of Infancy, Leucine-Sensitive

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Symptoms by clinical synopsis from OMIM:

240800

Clinical features from OMIM:

240800

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

(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 Hypoglycemia of Infancy, Leucine-Sensitive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypoglycemia of Infancy, Leucine-Sensitive

Genetic Tests for Hypoglycemia of Infancy, Leucine-Sensitive

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Genetic tests related to Hypoglycemia of Infancy, Leucine-Sensitive:

id Genetic test Affiliating Genes
1 Leucine-Induced Hypoglycemia24

Anatomical Context for Hypoglycemia of Infancy, Leucine-Sensitive

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

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Publications for Hypoglycemia of Infancy, Leucine-Sensitive

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Variations for Hypoglycemia of Infancy, Leucine-Sensitive

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UniProtKB/Swiss-Prot genetic disease variations for Hypoglycemia of Infancy, Leucine-Sensitive:

67
id Symbol AA change Variation ID SNP ID
1ABCC8p.Arg1352HisVAR_029784

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

5
id Gene Variation 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 Hypoglycemia of Infancy, Leucine-Sensitive

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

Pathways for genes affiliated with Hypoglycemia of Infancy, Leucine-Sensitive

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Pathways related to Hypoglycemia of Infancy, Leucine-Sensitive according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ABCC8, KCNJ11
2
Show member pathways
9.1ABCC8, KCNJ11
3
Show member pathways
9.1ABCC8, KCNJ11
4
Show member pathways
9.1ABCC8, KCNJ11
5
Show member pathways
9.1ABCC8, KCNJ11
6
Show member pathways
9.1ABCC8, KCNJ11
79.1ABCC8, KCNJ11
89.1ABCC8, KCNJ11
9
Show member pathways
9.1ABCC8, KCNJ11
109.1ABCC8, KCNJ11

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

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Cellular components related to Hypoglycemia of Infancy, Leucine-Sensitive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.1ABCC8, KCNJ11
2voltage-gated potassium channel complexGO:00080768.8ABCC8, KCNJ11

Biological processes related to Hypoglycemia of Infancy, Leucine-Sensitive according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1potassium ion transmembrane transportGO:00718059.6ABCC8, KCNJ11
2potassium ion transportGO:00068139.6ABCC8, KCNJ11
3negative regulation of insulin secretionGO:00466769.6ABCC8, KCNJ11
4energy reserve metabolic processGO:00061129.5ABCC8, KCNJ11
5regulation of insulin secretionGO:00507969.5ABCC8, KCNJ11
6synaptic transmissionGO:00072689.1ABCC8, KCNJ11
7response to drugGO:00424939.0ABCC8, KCNJ11

Molecular functions related to Hypoglycemia of Infancy, Leucine-Sensitive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.1ABCC8, KCNJ11

Sources for Hypoglycemia of Infancy, Leucine-Sensitive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet