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 50 12
Leucine-Sensitive Hypoglycemia of Infancy 46 68
Leucine-Induced Hypoglycemia 68 25
Familial Infantile Hypoglycemia Precipitated by Leucine 46
 
Hypoglycemia Leucine-Induced 46
Hypoglycemia Leucine Induced 46
Lih 68

Characteristics:

HPO:

62
hypoglycemia of infancy, leucine-sensitive:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 240800
MedGen35 C0271714

Summaries for Hypoglycemia of Infancy, Leucine-Sensitive

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UniProtKB/Swiss-Prot:68 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 has symptoms including muscle spasticity, strabismus and irritability. An important gene associated with Hypoglycemia of Infancy, Leucine-Sensitive is ABCC8 (ATP Binding Cassette Subfamily C Member 8).

Description from OMIM:50 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
1hypoglycemia10.0

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

UMLS symptoms related to Hypoglycemia of Infancy, Leucine-Sensitive:


muscle spasticity

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 Hypoglycemia25

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:

68
id Symbol AA change Variation ID SNP ID
1ABCC8p.Arg1352HisVAR_029784rs28936370

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet