Details of Disease | DrugMAP

General Information of Disease (ID: DIS9XV8L)

Disease Name	Desmosterolosis
Synonyms	desmosterolosis
Definition	Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
Disease Hierarchy	DISZFFSF: Cholesterol biosynthetic process disease DISU0N46: Neonatal osteosclerotic dysplasia DIS9XV8L: Desmosterolosis
Disease Identifiers	MONDO ID MONDO_0011217 MESH ID C566555 UMLS CUI C1865596 OMIM ID 602398 MedGen ID 400801 Orphanet ID 35107 SNOMED CT ID 709490002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DHCR24	TTTK0NH	Limited	Genetic Variation	[1]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Strong	Biomarker	[2]
DHCR24	DEAXY04	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DHCR24	OTP301JW	Definitive	Autosomal recessive	[3]
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References

1	Desmosterolosis and desmosterol homeostasis in the developing mouse brain.J Inherit Metab Dis. 2019 Sep;42(5):934-943. doi: 10.1002/jimd.12088. Epub 2019 Apr 8.
2	Subcellular localization of sterol biosynthesis enzymes.J Mol Histol. 2019 Feb;50(1):63-73. doi: 10.1007/s10735-018-9807-y. Epub 2018 Dec 8.
3	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.