NLRC4-related familial cold autoinflammatory syndrome
Synonyms: FCAS4 · Familial cold autoinflammatory syndrome 4 · NLRC4-related familial cold urticaria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NLRC4-related familial cold autoinflammatory syndrome | FCAS4 · Familial cold autoinflammatory syndrome 4 · NLRC4-related familial cold urticaria |
| fr | Syndrome familial auto-inflammatoire au froid associé à NLRC4 | SFAF4 · Syndrome familial auto-inflammatoire au froid type 4 · Urticaire familiale au froid associé à NLRC4 |
| de | NLRC4-assoziiertes familiäres kälteinduziertes autoinflammatorisches Syndrom | Autoinflammatorisches Syndrom, kälteinduziertes, familiäres, Typ 4 · FCAS4 · NLRC4-assoziierte familiäre Kälte-Urtikaria |
| es | Síndrome autoinflamatorio familiar por frío asociado a NLRC4 | FCAS4 · Síndrome autoinflamatorio familiar por frío 4 · Urticaria familiar por frío asociada a NLRC4 |
| it | Sindrome autoinfiammatoria familiare da freddo correlata a NLRC4 | FCAS4 · Orticaria da freddo familiare correlata a NLRC4 · Sindrome autoinfiammatoria familiare da freddo 4 |
| nl | NLRC4-gerelateerd familiaal auto-inflammatoir syndroom door koude | FCAS4 · Familiaal auto-inflammatoir syndroom door koude 4 · NLRC4-gerelateerde familiale koude-urticaria |
| pt | Síndrome autoinflamatório ao frio familiar NLRC4-relacionada | Síndrome familiar autoinflamatório ao frio 4 |
| pl | Rodzinny zespół autozapalny indukowany zimnem związany z NLRC4 | = en |
| cs | NLRC4-vázaný familiární chladový autoinflamatorní syndrom | = en |
| uk | Сімейний холодовий аутозапальний синдром, повязаний з NLRC4 | Сімейний холодовий аутозапальний синдром 4 · FCAS4 · Сімейна холодова кропивянка, повязана з NLRC4 |
| zh | NLRC4基因相关家族性感冒自身炎性综合征 | 家族性寒冷性自身炎性综合征 |
| tr | NLRC4-ilişkili ailesel soğuk otoinflamatuar sendrom | FCAS4 · NLRC4-ilişkili ailesel soğuk ürtiker · Ailesel soğuk otoinflamatuar sendrom 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616115 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A60.1 | NTBT | attributed | validated |
| MONDO | 0014498 | E | validated | |
| UMLS | C4015276 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:324924Hereditary periodic fever syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NLRC4 | Disease-causing germline mutation(s) in | Assessed | HGNC:16412 | ENSG00000091106 | 606831 | 2p22.3 | NLR family CARD domain containing 4 | 25385754[PMID]_31953710[PMID]_28957823[PMID]_29247997[PMID]_29496273[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 cases | Worldwide | Case(s) | Validated | 29496273[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29496273[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/576349
- This record as JSON: /data/d/576349.json