F12-associated cold autoinflammatory syndrome
Synonyms: FACAS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic autoinflammatory syndrome with skin involvement characterized by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor (12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | F12-associated cold autoinflammatory syndrome | FACAS |
| fr | Syndrome auto-inflammatoire au froid associé à F12 | |
| de | F12-assoziiertes kälteinduziertes autoinflammatorisches Syndrom | = en |
| es | Síndrome autoinflamatorio por frío asociado a F12 | = en |
| it | Sindrome autoinfiammatoria indotta dal freddo correlata a F12 | = en |
| nl | F12-geassocieerd auto-inflammatoir syndroom door koude | = en |
| pt | Síndrome autoinflamatória do frio F12-associada | = en |
| pl | Indukowany zimnem zespół autozapalny związany z F12 | = en |
| cs | Autoinflamatorní syndrom spojený s chladem a genem F12 | = en |
| uk | F12-асоційований холодовий аутозапальний синдром | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L50.2 | NTBT | attributed | validated |
| ICD-11 | EB01.1 | NTBT | attributed | validated |
| MONDO | 0850053 | E | validated | |
| UMLS | C5681829 | 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 |
|---|---|---|---|---|---|---|---|---|
| F12 | Disease-causing germline mutation(s) in | Assessed | HGNC:3530 | ENSG00000131187 | 610619 | 5q35.3 | coagulation factor XII | 31924766[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 31924766[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31924766[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/617919
- This record as JSON: /data/d/617919.json