Smith-Magenis syndrome
Information
- Disease name
- Smith-Magenis syndrome
- Disease ID
- DOID:0060768
- Description
- "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1310/, url:https\://www.ncbi.nlm.nih.gov/pubmed/16845274, url:https\://www.ncbi.nlm.nih.gov/pubmed/21844811, url:https\://www.ncbi.nlm.nih.gov/pubmed/6745947]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00004351 | Completed | Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes | September 1999 | ||
| NCT02231008 | Completed | Phase 2/Phase 3 | Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS | September 2015 | January 2022 |
| NCT02776215 | Completed | Phase 1 | Study of the Pharmacokinetics and Safety of Tasimelteon in Children and Adolescents | October 4, 2016 | December 20, 2017 |
| NCT04768803 | Recruiting | Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and/or Overweight, and/or Obesity | June 10, 2021 | December 15, 2023 | |
| NCT05116904 | Recruiting | N/A | Smith Magenis Syndrome and Autism Spectrum Disorders | March 30, 2022 | April 2026 |
- Disase is a (Disease Ontology)
- DOID:0060388
- Cross Reference ID (Disease Ontology)
- GARD:8197
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q93.5
- Cross Reference ID (Disease Ontology)
- MESH:D058496
- Cross Reference ID (Disease Ontology)
- MIM:182290
- Cross Reference ID (Disease Ontology)
- ORDO:819
- Exact Synonym (Disease Ontology)
- 17p11.2 microdeletion syndrome
- Exact Synonym (Disease Ontology)
- chromosome 17p11.2 deletion syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 819
- MeSH unique ID (MeSH (Medical Subject Headings))
- D058496