lathosterolosis

Genetics

• autosomal recessive
• cause by mutations in the SC5DL gene

Clinical manifestations

• complex phenotype
• multiple congenital anomalies
• mental retardation
• liver disease

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Additional terms

• lathosterol (5-alpha-cholest-7-en-3-beta-ol)
• lathosterol oxidase; C-5 sterol desaturase; delta(7)-sterol 5-desaturase; lathosterol 5-desaturase; sterol-C5-desaturase (SC5D, SC5DL)

Database

• OMIM: https://mirror.omim.org/entry/607330