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GTR Home > Conditions/Phenotypes > Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Synonyms
Microcephaly, congenital cataract, and psoriasiform dermatitis; SC4MOL DEFICIENCY

Summary

Microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014). [from OMIM]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DESP4, ERG25, MCCPD, SC4MOL, MSMO1
    Summary: methylsterol monooxygenase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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