Muckle-Wells syndrome
Synonyms: Neutrophilic urticaria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Muckle-Wells syndrome (MWS) is 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).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Muckle-Wells syndrome | Neutrophilic urticaria |
| fr | Syndrome de Muckle-Wells | Urticaire neutrophilique |
| de | Muckle-Wells-Syndrom | MWS · Neutrophile Urtikaria |
| es | Síndrome de Muckle-Wells | Urticaria neutrofílica |
| it | Sindrome di Muckle-Wells | Orticaria - sordità - amiloidosi · Orticaria neutrofila |
| nl | Syndroom van Muckle-Wells | Neutrofiele netelroos · Neutrofiele urticaria |
| pt | Síndrome Muckle-Wells | Urticária neutrofílica |
| pl | Zespół Muckle'a i Wellsa | Pokrzywka neutrofilowa |
| cs | Muckleův-Wellsův syndrom | Neutrofilní urtikarie · Muckle-Wellsův syndrom |
| uk | Синдром Макла-Уеллса | Нейтрофільна кропивянка |
| zh | Muckle-Wells综合征 | 中性粒细胞性荨麻疹 |
| tr | Muckle-Wells sendromu | Nötrofilik ürtiker |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191900 | E | validated | |
| ICD-10 | E85.0 | NTBT | attributed | validated |
| ICD-11 | 4A60.1 | NTBT | index | validated |
| MONDO | 0008633 | E | validated | |
| UMLS | C0268390 | E | validated | |
| GARD | 8472 | E | validated | |
| MedDRA | 10064569 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:567556Genetic systemic disease with glomerulopathy as a major feature
rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:208650NLRP3-associated autoinflammatory disease
rare genetic diseases; rare skin diseases; rare immunological diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NLRP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:16400 | ENSG00000162711 | 606416 | 1q44 | NLR family pyrin domain containing 3 | 11687797[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0001769 | Broad foot | |
| HP:0000509 | Conjunctivitis | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0100534 | Episcleritis | |
| HP:0002240 | Hepatomegaly | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| HP:0000988 | Skin rash | |
| HP:0001744 | Splenomegaly | |
| HP:0000554 | Uveitis | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0000112 | Nephropathy | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0001917 | Renal amyloidosis | |
| HP:0001025 | Urticaria | |
| Occasional (29-5%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0000366 | Abnormality of the nose | |
| HP:0001608 | Abnormality of the voice | |
| HP:0001903 | Anemia | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000823 | Delayed puberty | |
| HP:0001945 | Fever | |
| HP:0000501 | Glaucoma | |
| HP:0004299 | Hernia of the abdominal wall | |
| HP:0008064 | Ichthyosis | |
| HP:0000256 | Macrocephaly | |
| HP:0003326 | Myalgia | |
| HP:0000648 | Optic atrophy | |
| HP:0001761 | Pes cavus | |
| HP:0011107 | Recurrent aphthous stomatitis | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0004322 | Short stature | |
| HP:0002633 | Vasculitis | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/575
- This record as JSON: /data/d/575.json