KEGG   DISEASE: Lathosterolosis
Entry
H01281                      Disease                                
Name
Lathosterolosis
Description
Lathosterolosis is an inborn error of cholesterol biosynthesis caused by mutations in SC5D gene encoding lathosterol 5-desaturase. It is characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H01281  Lathosterolosis
Pathway-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06034  Cholesterol biosynthesis
   H01281  Lathosterolosis
Pathway
hsa00100  Steroid biosynthesis
Network
nt06034 Cholesterol biosynthesis
Gene
(LATHOS) SC5D [HSA:6309] [KO:K00227]
Other DBs
ICD-11: 5C52.10
ICD-10: Q87.8
MeSH: C537880
OMIM: 607330
Reference
PMID:12812989
  Authors
Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD
  Title
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
  Journal
Hum Mol Genet 12:1631-41 (2003)
DOI:10.1093/hmg/ddg172
Reference
PMID:12189593 (LATHOS)
  Authors
Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G
  Title
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
  Journal
Am J Hum Genet 71:952-8 (2002)
DOI:10.1086/342668
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