Details of Disease | DrugMAP

General Information of Disease (ID: DISDMXLZ)

Disease Name	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Synonyms	Sc4Mol deficiency; microcephaly, congenital cataract, and psoriasiform dermatitis; smo deficiency; MCCPD; sterol-C4-methyl oxidase deficiency
Disease Hierarchy	DIS91IFI: Sterol biosynthesis disorder DISDMXLZ: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Disease Identifiers	MONDO ID MONDO_0014793 UMLS CUI C5567510 OMIM ID 616834 MedGen ID 1798933 Orphanet ID 488168 SNOMED CT ID 1172683008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MSMO1	DE5FUD0	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MSMO1	OTKV62RZ	Strong	Autosomal recessive	[1]
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References

1	Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest. 2011 Mar;121(3):976-84. doi: 10.1172/JCI42650.