progeria
Information
- Disease name
- progeria
- Disease ID
- DOID:3911
- Description
- "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22." [url:https\://www.genome.gov/Genetic-Disorders/Progeria, url:https\://www.ncbi.nlm.nih.gov/pubmed/12714972, url:https\://www.ncbi.nlm.nih.gov/pubmed/16838330]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00916747 | Active, not recruiting | Phase 2 | Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria | August 2009 | December 2023 |
| NCT03895528 | Approved for marketing | Lonafarnib for Patients With Hutchinson-Gilford Progeria Syndrome or Progeroid Laminopathy | |||
| NCT00094393 | Completed | Clinical Studies of Progeria | October 14, 2004 | May 22, 2018 | |
| NCT00425607 | Completed | Phase 2 | Phase II Trial of Lonafarnib (a Farnesyltransferase Inhibitor) for Progeria | May 2007 | October 2009 |
| NCT00879034 | Completed | Phase 2 | A Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria | March 2009 | April 2009 |
| NCT02579044 | Enrolling by invitation | Phase 1/Phase 2 | Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria | December 2015 | December 2023 |
- Disase is a (Disease Ontology)
- DOID:0081332
- Cross Reference ID (Disease Ontology)
- GARD:7467
- Cross Reference ID (Disease Ontology)
- ICD10CM:E34.8
- Cross Reference ID (Disease Ontology)
- MEDDRA:10036794
- Cross Reference ID (Disease Ontology)
- MESH:D011371
- Cross Reference ID (Disease Ontology)
- MIM:176670
- Cross Reference ID (Disease Ontology)
- NCI:C34951
- Cross Reference ID (Disease Ontology)
- ORDO:740
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190590004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0033300
- Exact Synonym (Disease Ontology)
- HGPS
- Exact Synonym (Disease Ontology)
- Hutchinson Gilford syndrome
- Exact Synonym (Disease Ontology)
- Hutchinson-Gilford disease
- Exact Synonym (Disease Ontology)
- Hutchinson-Gilford Progeria syndrome
- OMIM Phenotype Series Number (OMIM)
- PS176670
- MeSH unique ID (MeSH (Medical Subject Headings))
- D011371