Information on CINCA
Basic details
Name: CINCA syndrome | Acronym: CINCA
Alt. names: Chronic Infantile Neurologic Cutaneous Articular syndrome | NOMID | Neonatal Onset Multisystem Inflammatory Disease
Gene: NLRP3 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2002
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals may present with autoinflammatory manifestions, which can be severe, progressive, and ultimately fatal, medical treatment with IL1R antagonists (eg, anakinra, canakinumab) has been described as an effective treatment. Refs. PMIDs: 14476827; 5769632; 5173311; 49161; 447320; 11687797; 12032915; 12483741; 11992256; 12928894; 16532456; 21356079; 21538043; 21859692; 21967869; 22193915; 22723549; 28847925
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Recurrent fevers |
18 (94.7%) | 0 (0.0%) | 1 (5.3%) |
| 2 | Frontal bossing |
12 (92.3%) | 0 (0.0%) | 1 (7.7%) |
| 3 | Meningitis |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 4 | Arthritis |
9 (81.8%) | 0 (0.0%) | 2 (18.2%) |
| 5 | elevated ESR |
9 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Papilledema |
8 (88.9%) | 0 (0.0%) | 1 (11.1%) |
| 7 | Anemia |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Hepatosplenomegaly |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Leukocytosis |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Lymphadenopathy |
6 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Neonatal onset |
5 (62.5%) | 0 (0.0%) | 3 (37.5%) |
| 12 | Eosinophilia |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 13 | Growth delay |
4 (66.7%) | 0 (0.0%) | 2 (33.3%) |
| 14 | Elevated C-reactive protein |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Skin rash |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Hearing impairment |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 17 | Infantile onset |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 18 | Patellar overgrowth |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 19 | Uveitis |
2 (33.3%) | 0 (0.0%) | 4 (66.7%) |
| 20 | Childhood onset |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 21 | Lymphoedema |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 22 | Progressive sensorineural hearing impairment |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 23 | Seizures |
1 (16.7%) | 0 (0.0%) | 5 (83.3%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.