Information on FCAS2
Basic details
Name: Familial Cold Autoinflammatory Syndrome 2 | Acronym: FCAS2
Alt. names: NLRP12-associated hereditary periodic fever syndrome | NAPS12
Gene: NLRP12 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 2 | First reported in: 2008
Last updated on: 2023-02-28 16:41:18 by
Description
An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.
Management
Medical treatment (eg, with prednisone or colchicine) has been reported as effective in reducing fever.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
2 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
102154 |
U | 214596 | France | Armenian | PMID:21538323 [P1] | |||
| 102155 |
U | 214597 | France | Italian | PMID:21538323 [P2] |
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 | Myalgia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Recurrent fevers |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Abdominal pain |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Lymphadenopathy |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 5 | Abnormal lymphoproliferation |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Skin rash |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | Nervous system abnormality |
0 (0.0%) | 2 (99.9%) | 0 (0.0%) |
| 8 | Skin abnormality |
0 (0.0%) | 1 (50.0%) | 1 (50.0%) |
| 9 | Hearing impairment |
0 (0.0%) | 2 (99.9%) | 0 (0.0%) |
| 10 | proteinuria |
0 (0.0%) | 2 (99.9%) | 0 (0.0%) |
| 11 | Visual loss |
0 (0.0%) | 2 (99.9%) | 0 (0.0%) |
| 12 | Chest pain |
0 (0.0%) | 2 (99.9%) | 0 (0.0%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.