Cryopyrin-Associated Periodic Syndromes

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.

Also Known As:

CINCA; Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome; Chronic Neurologic Cutaneous and Articular Syndrome; Chronic Neurologic, Cutaneous, and Articular Syndrome; Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome; Cold Urticaria, Familial; Cold-Induced Autoinflammatory Syndrome, Familial; FCAS1; Familial Cold Autoinflammatory Syndrome 1; Familial Cold-Induced Autoinflammatory Syndrome; IOMID Syndrome; Prieur-Griscelli Syndrome; UDA Syndrome; Urticaria, Deafness and Amyloidosis; Urticaria-Deafness-Amyloidosis Syndrome; Cold Induced Autoinflammatory Syndrome, Familial; Cryopyrin Associated Periodic Syndromes; Cryopyrin-Associated Periodic Syndrome; Cryopyrinopathies; Familial Cold Induced Autoinflammatory Syndrome; Familial Cold Urticarias; IOMID Syndromes; Muckle Wells Syndrome; Multisystem Inflammatory Disease, Neonatal Onset; Prieur Griscelli Syndrome; Prieur-Griscelli Syndromes; Syndrome, IOMID; Syndrome, Muckle-Wells; Syndrome, Prieur-Griscelli; Syndrome, UDA; Syndrome, Urticaria-Deafness-Amyloidosis; UDA Syndromes; Urticaria Deafness Amyloidosis Syndrome; Urticaria, Familial Cold; Urticaria-Deafness-Amyloidosis Syndromes; CINCA Syndrome; Chronic Infantile Neurological, Cutaneous, and Articular Syndrome; Cryopyrin Associated Periodic Syndrome; Cryopyrinopathy; Familial Cold Autoinflammatory Syndrome; Familial Cold Urticaria; IOMID; Infantile Onset Multisystem Inflammatory Disease; Muckle-Wells Syndrome; Multisystem Inflammatory Disease, Neonatal-Onset; NOMID; Neonatal Onset Multisystem Inflammatory Disease

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Hereditary Autoinflammatory Diseases: 43
    - Cryopyrin-Associated Periodic Syndromes: 477
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Vascular Skin Diseases: 539
    - Urticaria: 5588
      - Chronic Urticaria: 2778
        Chronic Inducible Urticaria: 97
        Cryopyrin-Associated Periodic Syndromes: 477
      - Cold Urticaria: 210
        Cryopyrin-Associated Periodic Syndromes: 477
  - Genetic Skin Diseases: 51
    - Hereditary Autoinflammatory Diseases: 43
      - Cryopyrin-Associated Periodic Syndromes: 477
Immune System Diseases: 4430
- Hypersensitivity: 78126
  - Immediate Hypersensitivity: 2277
    - Urticaria: 5588
      - Chronic Urticaria: 2778
        Chronic Inducible Urticaria: 97
        Cryopyrin-Associated Periodic Syndromes: 477
      - Cold Urticaria: 210
        Cryopyrin-Associated Periodic Syndromes: 477
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Disease Attributes: 18
    - Chronic Disease: 26704
      - Chronic Urticaria: 2778
        Chronic Inducible Urticaria: 97
        Cryopyrin-Associated Periodic Syndromes: 477

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