MCID: HYP619
MIFTS: 19

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 51 12
Leucine-Sensitive Hypoglycemia of Infancy 47 69
Leucine-Induced Hypoglycemia 69 26
Familial Infantile Hypoglycemia Precipitated by Leucine 47
 
Hypoglycemia, Leucine-Induced 67
Hypoglycemia Leucine-Induced 47
Hypoglycemia Leucine Induced 47
Lih 69

Characteristics:

HPO:

63
hypoglycemia of infancy, leucine-sensitive:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 240800
MedGen36 C0271714

Summaries for Hypoglycemia of Infancy, Leucine-Sensitive

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UniProtKB/Swiss-Prot:69 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 strabismus, irritability and hyperinsulinemic hypoglycemia. An important gene associated with Hypoglycemia of Infancy, Leucine-Sensitive is ABCC8 (ATP Binding Cassette Subfamily C Member 8).

Description from OMIM:51 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
1hypoglycemia9.9

Symptoms for Hypoglycemia of Infancy, Leucine-Sensitive

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Symptoms by clinical synopsis from OMIM:

240800

Clinical features from OMIM:

240800

Human phenotypes related to Hypoglycemia of Infancy, Leucine-Sensitive:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 strabismus63 HP:0000486
2 irritability63 HP:0000737
3 hyperinsulinemic hypoglycemia63 HP:0000825
4 intellectual disability63 HP:0001249
5 ataxia63 HP:0001251
6 spasticity63 HP:0001257
7 coma63 HP:0001259
8 hyperreflexia63 HP:0001347
9 hypoglycemia63 HP:0001943
10 drowsiness63 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 Hypoglycemia26

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:

69
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)SNVPathogenicrs28936370GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet