MCID: HYP619
MIFTS: 20

Hypoglycemia of Infancy, Leucine-Sensitive malady

Categories: Genetic diseases, Rare diseases

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
Leucine-Induced Hypoglycemia 67 24
Familial Infantile Hypoglycemia Precipitated by Leucine 45
 
Hypoglycemia, Leucine-Induced 65
Hypoglycemia Leucine-Induced 45
Hypoglycemia Leucine Induced 45
Lih 67

Characteristics:

HPO:

61
hypoglycemia of infancy, leucine-sensitive:
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 240800
MedGen34 C0271714
UMLS65 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 cholera, and has symptoms including drowsiness, hypoglycemia and hyperreflexia. An important gene associated with Hypoglycemia of Infancy, Leucine-Sensitive is ABCC8 (ATP Binding Cassette Subfamily C Member 8).

Description from OMIM:49 240800

Related Diseases for Hypoglycemia of Infancy, Leucine-Sensitive

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Diseases related to Hypoglycemia of Infancy, Leucine-Sensitive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cholera10.3

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 10)
id Description Frequency HPO Source Accession
1 drowsiness HP:0002329
2 hypoglycemia HP:0001943
3 hyperreflexia HP:0001347
4 coma HP:0001259
5 spasticity HP:0001257
6 ataxia HP:0001251
7 intellectual disability HP:0001249
8 hyperinsulinemic hypoglycemia HP:0000825
9 irritability HP:0000737
10 strabismus HP:0000486

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

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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