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MCID: LKT001
MIFTS: 16
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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:Inheritance:
Leukotriene C4 Synthase Deficiency:
Autosomal recessive 57
Hypotonia-Failure to Thrive-Microcephaly Syndrome:
Autosomal recessive 58
Prevelance:
Hypotonia-Failure to Thrive-Microcephaly Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Hypotonia-Failure to Thrive-Microcephaly Syndrome:
Infancy,Neonatal 58
Classifications:
ICD10:
32
Orphanet: 58
Inborn errors of metabolism |
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Orphanet: 58 Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. MalaCards based summary: Leukotriene C4 Synthase Deficiency, is also known as hypotonia-failure to thrive-microcephaly syndrome. An important gene associated with Leukotriene C4 Synthase Deficiency is LTC4S (Leukotriene C4 Synthase). Related phenotypes are hypotonia and global developmental delay Wikipedia: 75 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:30
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Articles related to Leukotriene C4 Synthase Deficiency:
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Search
GEO
for disease gene expression data for Leukotriene C4 Synthase Deficiency.
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