Features include always present findings: Microcephaly, Decreased LDL cholesterol concentration, Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), and Delayed skeletal maturation and others. 18 total HPO annotations.

MSMO1 encodes methylsterol monooxygenase 1 (293 aa). Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol. Highest expression in Esophagus Mucosa (137.5 TPM) and Liver (126.0 TPM).

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome is associated with mutations in the MSMO1 gene on chromosome 4.

The MSMO1 protein participates in MSMO1 oxidizes 4a-me-5a-cholest-8-en-3b-ol to 4a-carboxy-5a-cholest-8-ene-3b-ol and MSMO1 oxidizes 4,4-diMe-5-cholest-8-en-3-ol to 4a-carboxy-4b-me-5a-cholest-8-en-3b-ol pathways.

MSMO1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for MSMO1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 14 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for microcephaly-congenital cataract-psoriasiform dermatitis syndrome.

25 publications have been identified in PubMed for microcephaly-congenital cataract-psoriasiform dermatitis syndrome. Research spans Basic Science / Preclinical (72%), Review / Meta-Analysis (8%), and Epidemiology / Natural History (8%).