AmyCo

Basic Information

Disease Name:

Cryopyrin-Associated Periodic Syndromes

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

MeSH 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.

Type:

Clinical condition associated with amyloidosis

ICD-10 Classification

Diseases of the Musculoskeletal System and Connective Tissue

Tissue:

Kidney

Associated Amyloidosis:

AA Amyloidosis

Precursor Proteins:

Primary Name:	Serum amyloid A-1 protein
Gene Name:	SAA1
Alternative Protein Names:	Serum amyloid A-1 protein (SAA) [Cleaved into: Amyloid protein A (Amyloid fibril protein AA); Serum amyloid protein A(2-104); Serum amyloid protein A(3-104); Serum amyloid protein A(2-103); Serum amyloid protein A(2-102); Serum amyloid protein A(4-101)]
ISA Nomenclature:	AA
Protein Length:	122
Precursor Protein Sequence:	MKLLTGLVFCSLVLGVSSRSFFSFLGEAFDGARDMWRAYSDMREANYIGSDKYFHARGNYDAAKRGPGGVWAAEAISDARENIQRFFGHGAEDSLADQAANEWGRSGKDPNHFRPAGLPEKY
UniProt AC:	P0DJI8
UniProt ID:	SAA1_HUMAN
AmyPro:	AP00005

Primary Name:	Serum amyloid A-2 protein
Gene Name:	SAA2
Alternative Protein Names:	Serum amyloid A-2 protein (SAA2)
ISA Nomenclature:	AA
Protein Length:	122
Precursor Protein Sequence:	MKLLTGLVFCSLVLSVSSRSFFSFLGEAFDGARDMWRAYSDMREANYIGSDKYFHARGNYDAAKRGPGGAWAAEVISNARENIQRLTGRGAEDSLADQAANKWGRSGRDPNHFRPAGLPEKY
UniProt AC:	P0DJI9
UniProt ID:	SAA2_HUMAN
AmyPro:

Co-deposited Proteins:

No information available

MeSH:
ICD:
OMIM:
PubMed:

Protein Information

Protein Information