Details of Disease | DrugMAP

General Information of Disease (ID: DISRSQDQ)

Disease Name	Lathosterolosis
Synonyms	Sc5D deficiency; lathosterolosis; sterol C5-desaturase deficiency
Definition	Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
Disease Hierarchy	DISZFFSF: Cholesterol biosynthetic process disease DISRSQDQ: Lathosterolosis
Disease Identifiers	MONDO ID MONDO_0011816 MESH ID C537880 UMLS CUI C1846421 OMIM ID 607330 MedGen ID 375885 Orphanet ID 46059 SNOMED CT ID 719257008

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
DHCR7	DEL7GFA	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SC5D	OT41KMW4	Definitive	Autosomal recessive	[2]
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References

1	Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature.J Cell Sci. 2006 May 1;119(Pt 9):1876-85. doi: 10.1242/jcs.02906.
2	Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet. 2003 Jul 1;12(13):1631-41. doi: 10.1093/hmg/ddg172.