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MCID: LKT001
MIFTS: 17
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Leukotriene C4 Synthase Deficiency
Categories:
Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Leukotriene C4 Synthase Deficiency:
Characteristics:HPO:31
leukotriene c4 synthase deficiency:
Onset and clinical course death in infancy Inheritance autosomal recessive inheritance Classifications:
Orphanet: 58
Inborn errors of metabolism |
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KEGG :
36
Leukotriene C4 (LTC4) synthase deficiency is an inborn error of metabolism linked to a fatal developmental syndrome. It is characterised by severe muscular hypotonia, psychomotor retardation, failure to thrive, microcephaly, and the total absence of cysteinyl leukotrienes in body fluids.
MalaCards based summary : Leukotriene C4 Synthase Deficiency, is also known as ltc4 synthase deficiency. An important gene associated with Leukotriene C4 Synthase Deficiency is LTC4S (Leukotriene C4 Synthase), and among its related pathways/superpathways is Arachidonic acid metabolism. Related phenotypes are global developmental delay and microcephaly Wikipedia : 73 Leukotriene C4 synthase deficiency is an inborn error of... more...
More information from OMIM:
614037
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Human phenotypes related to Leukotriene C4 Synthase Deficiency:31
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Articles related to Leukotriene C4 Synthase Deficiency:
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Genes related to Leukotriene C4 Synthase Deficiency (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukotriene C4 Synthase Deficiency:6
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Search
GEO
for disease gene expression data for Leukotriene C4 Synthase Deficiency.
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Pathways related to Leukotriene C4 Synthase Deficiency according to KEGG:36
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