Concept information
Skin and Connective Tissue Diseases
Skin Diseases
Skin Diseases, Genetic
Hereditary Autoinflammatory Diseases
Preferred term
Cryopyrin-Associated Periodic Syndromes
Type
-
Topical Descriptor
Entry terms
- Cryopyrin Associated Periodic Syndrome
- Cryopyrinopathies
- Cryopyrinopathy
Scope note
- A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations.
History note
- 2010; use Cryopyrin-associated Periodic Syndromes, 2010
In other languages
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Finnish
-
kryopyriiniin liittyvä ajoittainen oireyhtymä
-
kryopyriiniin liittyvä periodinen oireyhtymä
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kryopyriiniin liittyvät periodiset oireyhtymät
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kryopyrinopatia
-
kryopyrinopatiat
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Swedish
-
CINCA-syndrom
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Familjärt autoinflammatoriskt köldsyndrom
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Kroniskt infantilt neurologiskt hud- och ledsyndrom
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Mucle-Wells syndrom
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Prieur – Griscellis syndrom
URI
http://www.yso.fi/onto/mesh/D056587
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