Muckle-Wells syndrome
Findings
No curated finding names Muckle-Wells syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).
Definition from the Mondo Disease Ontology (MONDO:0008633), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
51 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthralgiaHPOHP:0002829
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Chronic fatigueHPOHP:0012432
- 3 of 3 reported patients
- Clubbing of fingersHPOHP:0100759
- 2 of 2 reported patients
- Conjunctival hyperemiaHPOHP:0030953
- 2 of 2 reported patients
- Deep dermal perivascular inflammatory infiltrateHPOHP:0031191
- 1 of 1 reported patient
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 3 of 3 reported patients
Show the remaining 39
- PapilledemaHPOHP:0001085
- 1 of 1 reported patient
- Polyarticular arthritisHPOHP:0005764
- 2 of 2 reported patients
- Progressive sensorineural hearing impairmentHPOHP:0000408
- 2 of 2 reported patients · Young adult onset
- Very frequent (80% to 99% of cases)
- Recurrent feverHPOHP:0001954
- 5 of 5 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- UrticariaHPOHP:0001025
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NLRP3HGNC:16400
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Muckle-Wells syndrome
- Also called
- neutrophilic urticaria