ID: 49

Disease Name: Cryopyrin-Associated Periodic Syndromes

Description: 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.

Disease Type: Clinical conditions associated with amyloidosis

ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue

Tissue: Kidney

Cross References
https://meshb.nlm.nih.gov/record/ui?ui=D056587

https://www.omim.org/entry/191900

https://www.ncbi.nlm.nih.gov/pubmed/6406764

https://www.ncbi.nlm.nih.gov/pubmed/10486324

https://www.ncbi.nlm.nih.gov/pubmed/14872505

https://www.ncbi.nlm.nih.gov/pubmed/29163488

Alternative Names:
Muckle-Wells Syndrome
Muckle Wells Syndrome
Syndrome, Muckle-Wells
Urticaria, Deafness and Amyloidosis
UDA Syndrome
Syndrome, UDA
Syndromes, UDA
UDA Syndromes
Urticaria-Deafness-Amyloidosis Syndrome
Syndrome, Urticaria-Deafness-Amyloidosis
Syndromes, Urticaria-Deafness-Amyloidosis
Urticaria Deafness Amyloidosis Syndrome
Urticaria-Deafness-Amyloidosis Syndromes 
CINCA
CINCA Syndrome
Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome
Chronic Infantile Neurological, 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
Cryopyrinopathy
FCAS1
Familial Cold Autoinflammatory Syndrome
Familial Cold Autoinflammatory Syndrome 1
Familial Cold Urticaria
Familial Cold-Induced Autoinflammatory Syndrome
IOMID
IOMID Syndrome
Infantile Onset Multisystem Inflammatory Disease
Multisystem Inflammatory Disease, Neonatal-Onset
NOMID
Neonatal Onset Multisystem Inflammatory Disease
Prieur-Griscelli Syndrome
CAPS

Precursor Proteins:
P0DJI8 | Serum amyloid A-1 protein
P0DJI9 | Serum amyloid A-2 protein


Co-deposited Proteins:
No information available



Link to Amyloidosis: 
	http://83.212.109.111:8084/amyco/29

//