hypochondroplasia
Information
- Disease name
- hypochondroplasia
- Disease ID
- DOID:0080041
- Description
- "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism." [url:http\://en.wikipedia.org/wiki/Hypochondroplasia, url:http\://ghr.nlm.nih.gov/condition/hypochondroplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1477/]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| FGFR3 | 4 | 1,793,293 | 1,808,867 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01111019 | Completed | Phase 2 | Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated at Least 3 Years or Until Near Final Height, When Applicable, in Comparison With a Historic Cohort of Non-treated Children | March 21, 2006 | January 17, 2017 |
| NCT01541306 | Completed | C-Type Natriuretic Peptide and Achondroplasia | February 2012 | December 2014 | |
| NCT06455059 | Enrolling by invitation | Phase 3 | Interventional Study of Vosoritide for the Treatment of Children With Hypochondroplasia | June 1, 2024 | August 1, 2026 |
| NCT05328050 | Recruiting | Registry for Patients With Achondroplasia / Hypochondroplasia (OMPR-Ach/Hy) | September 1, 2021 | December 31, 2036 | |
| NCT06212947 | Recruiting | A Multicenter Multinational Observational Study of Children With Hypochondroplasia | November 27, 2023 | December 31, 2043 | |
| NCT06410976 | Recruiting | Prospective Clinical Assessment Study in Children With Hypochondroplasia | June 5, 2024 | October 2026 |
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:6724
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q77.4
- Cross Reference ID (Disease Ontology)
- MESH:C562937
- Cross Reference ID (Disease Ontology)
- MIM:146000
- Cross Reference ID (Disease Ontology)
- NCI:C118697
- Cross Reference ID (Disease Ontology)
- ORDO:429
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:205468002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0410529
- OrphaNumber from OrphaNet (Orphanet)
- 429