KEGG DISEASE: CINCA syndrome

KEGG

DISEASE: CINCA syndrome

Entry

H02556                      Disease

Name

CINCA syndrome;
Chronic infantile neurologic cutaneous and articular syndrome

Subgroup

Neonatal onset multisystemic inflammatory disease

Supergrp

Cryopyrin associated periodic syndrome [DS:H00282]

Description

Chronic infantile neurological cutaneous and articular (CINCA) syndrome, also known as neonatal onset multisystemic inflammatory disease (NOMID), is a rare congenital inflammatory disorder characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS).

Category

Immune system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02556  CINCA syndrome
Pathway-based classification of diseases [BR:br08402]
Immune system
  nt06521  NLR signaling
   H02556  CINCA syndrome

Pathway

NOD-like receptor signaling pathway

C-type lectin receptor signaling pathway

Network

nt06521 NLR signaling

Gene

NLRP3 [HSA:114548] [KO:K12800]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Finetti M, Omenetti A, Federici S, Caorsi R, Gattorno M

Title

Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review.

Journal

Orphanet J Rare Dis 11:167 (2016)
DOI:10.1186/s13023-016-0542-8

Reference

PMID:12032915 (NLRP3)

Authors

Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G

Title

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Journal

Am J Hum Genet 71:198-203 (2002)
DOI:10.1086/341357

LinkDB

» Japanese version

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