Details of Disease

General Information of Disease (ID: DISX9ZUA)

• Disease Name: Smith-Lemli-Opitz syndrome
• Synonyms: polydactyly, sex reversal, renal hypoplasia, and unilobular lung; lethal acrodysgenital syndrome; polydactyly, sex reversal, renal hypoplasia, and unilobar lung; Smith Lemli Opitz syndrome; Smith-Lemli-Opitz syndrome; SLOS; Smith-Opitz-inborn syndrome; RSH syndrome; 7-dehydrocholesterol reductase deficiency; SLO syndrome; Rutledge lethal multiple congenital anomaly syndrome
• Definition: Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DISPGGVL: Syndromic dyslipidemia
  DISZFFSF: Cholesterol biosynthetic process disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISX9ZUA: Smith-Lemli-Opitz syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010035
  MESH ID: D019082
  UMLS CUI: C0175694
  OMIM ID: 270400
  MedGen ID: 61231
  Orphanet ID: 818
  SNOMED CT ID: 43929004

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Lovastatin	DM9OZWQ	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FDFT1	TTFQEO5	Strong	Genetic Variation	[2]
GJB6	TTAU8SJ	Strong	Genetic Variation	[3]
KCNMA1	TTE87WJ	Strong	Biomarker	[4]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Definitive	Autosomal recessive	[5]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADSB	OTDO6HBG	Limited	Biomarker	[6]
AUH	OT8VKBXX	Limited	Biomarker	[6]
MED19	OTT9RT5N	Strong	Genetic Variation	[7]
SAFB	OTGRV2LW	Strong	Genetic Variation	[8]
SC5D	OT41KMW4	Strong	Biomarker	[9]
SLC22A18	OT9C3KR4	Strong	Genetic Variation	[8]
DHCR7	OTLILBUI	Definitive	Autosomal recessive	[5]
PAX6	OTOC9876	Definitive	Biomarker	[10]

References

• [1] Lovastatin FDA Label
• [2] Genetic disorders of cholesterol biosynthesis in mice and humans.Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226.
• [3] Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol. 2004 May;122(5):1108-13. doi: 10.1111/j.0022-202X.2004.22518.x.
• [4] Biochemical variants of Smith-Lemli-Opitz syndrome.Am J Med Genet. 1999 Aug 27;85(5):517-23. doi: 10.1002/(sici)1096-8628(19990827)85:5<517::aid-ajmg18>3.0.co;2-1.
• [5] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [6] Genotype-based databases for variants causing rare diseases.Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.
• [7] A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11.
• [8] A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome.J Lipid Res. 2014 Feb;55(2):329-37. doi: 10.1194/jlr.D043877. Epub 2013 Nov 20.
• [9] 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.
• [10] Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome.Am J Med Genet. 1999 Nov 26;87(3):207-16. doi: 10.1002/(sici)1096-8628(19991126)87:3<207::aid-ajmg3>3.0.co;2-5.