Details of Disease | DrugMAP

General Information of Disease (ID: DIS8EKG3)

Disease Name	Squalene synthase deficiency
Synonyms	neurodevelopmental disorder with low cholesterol and abnormal urine organic acids; SQUALENE SYNTHASE DEFICIENCY; SQSD
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DIS8EKG3: Squalene synthase deficiency
Disease Identifiers	MONDO ID MONDO_0032566 UMLS CUI C4748427 OMIM ID 618156 MedGen ID 1648421

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
FDFT1	TTFQEO5	Disputed	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FDFT1	DEIDTHQ	Limited	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FDFT1	OTGDISIT	Limited	Autosomal recessive	[2]
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References

1	Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.