Smith-Lemli-Opitz syndrome
Information
- Disease name
- Smith-Lemli-Opitz syndrome
- Disease ID
- DOID:14692
- Description
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03720990 | Completed | Phase 1/Phase 2 | Smith-Lemli-Opitz Syndrome and Cholic Acid | March 27, 2021 | September 30, 2023 |
| NCT00001721 | Completed | Study of Smith-Lemli-Opitz Syndrome | September 13, 1998 | ||
| NCT00017732 | Completed | Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans | June 2001 | March 2003 | |
| NCT00064792 | Completed | Phase 2 | Simvastatin Therapy in Smith-Lemli-Opitz Syndrome | July 2003 | December 2010 |
| NCT00070850 | Completed | Prenatal Screening For Smith-Lemli-Opitz Syndrome | April 2001 | July 2005 | |
| NCT00114634 | Completed | Phase 2 | Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome | June 2005 | February 2009 |
| NCT00272844 | Completed | Phase 1/Phase 2 | Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome | January 1998 | July 2011 |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT01773278 | Recruiting | Phase 2 | Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) | December 2008 | December 2025 |
| NCT05642221 | Recruiting | Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls | January 23, 2023 | March 1, 2026 | |
| NCT01356420 | Terminated | N/A | Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome | January 2011 | December 2015 |
| NCT01434745 | Terminated | N/A | SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation | September 2011 | October 2014 |
| NCT00004347 | Unknown status | Phase 2 | Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome | November 1995 |
- Disase is a (Disease Ontology)
- DOID:3146
- Cross Reference ID (Disease Ontology)
- GARD:5683
- Cross Reference ID (Disease Ontology)
- ICD10CM:E78.72
- Cross Reference ID (Disease Ontology)
- MESH:D019082
- Cross Reference ID (Disease Ontology)
- MIM:270400
- Cross Reference ID (Disease Ontology)
- NCI:C85071
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:43929004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0175694
- Exact Synonym (Disease Ontology)
- Rutledge lethal multiple congenital anomaly syndrome
- Exact Synonym (Disease Ontology)
- Smith-Opitz-Inborn syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 818
- MedGen concept unique identifier (MedGen Concept name)
- C0175694
- MedGen unique identifier (MedGen Concept name)
- 61231
- MeSH unique ID (MeSH (Medical Subject Headings))
- D019082