MCID: HYP619
MIFTS: 19

Hypoglycemia of Infancy, Leucine-Sensitive malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Hypoglycemia of Infancy, Leucine-Sensitive

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

Name: Hypoglycemia of Infancy, Leucine-Sensitive 45 10
Hypoglycemia, Leucine-Induced 45 60
Hypoglycemia Leucine-Induced 41 22
 
Familial Infantile Hypoglycemia Precipitated by Leucine 41
Leucine-Sensitive Hypoglycemia of Infancy 41
Hypoglycemia Leucine Induced 41


Classifications:

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


External Ids:

OMIM45 240800

Summaries for Hypoglycemia of Infancy, Leucine-Sensitive

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MalaCards based summary: Hypoglycemia of Infancy, Leucine-Sensitive, also known as hypoglycemia, leucine-induced, is related to hypoglycemia, 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).

Description from OMIM:45 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
1hypoglycemia10.4

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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Drug clinical trials:

Search ClinicalTrials for Hypoglycemia of Infancy, Leucine-Sensitive

Search 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 Hypoglycemia22

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:

62
id Symbol AA change Variation ID SNP ID
1ABCC8p.Arg1352HisVAR_029784

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

6
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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Compounds 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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Products for genes affiliated with Hypoglycemia of Infancy, Leucine-Sensitive

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypoglycemia of Infancy, Leucine-Sensitive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet