Muckle-Wells syndrome
Information
- Disease name
- Muckle-Wells syndrome
- Disease ID
- DOID:0050854
- Description
- "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44." [url:https\://www.ncbi.nlm.nih.gov/pubmed/11687797, url:https\://www.ncbi.nlm.nih.gov/pubmed/11992256]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00991146 | Completed | Phase 3 | Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase | October 2009 | February 2012 |
| NCT01045772 | Completed | Phase 2 | Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) | January 2009 | September 2010 |
| NCT01302860 | Completed | Phase 3 | Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease | November 2010 | November 2014 |
| NCT01576367 | Completed | Phase 3 | Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease | January 16, 2012 | October 13, 2015 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:8472
- Cross Reference ID (Disease Ontology)
- ICD10CM:M04.2
- Cross Reference ID (Disease Ontology)
- MEDDRA:10064569
- Cross Reference ID (Disease Ontology)
- MESH:D056587
- Cross Reference ID (Disease Ontology)
- MIM:191900
- Cross Reference ID (Disease Ontology)
- NCI:C119054
- Cross Reference ID (Disease Ontology)
- ORDO:575
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:15123008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268390
- Exact Synonym (Disease Ontology)
- MWS
- Exact Synonym (Disease Ontology)
- neutrophilic urticaria
- OrphaNumber from OrphaNet (Orphanet)
- 575