ORPHA:247868
NLRP12-associated hereditary periodic fever syndrome
Synonyms: FCAS2 · Familial cold autoinflammatory syndrome type 2 · NAPS12
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NLRP12-associated hereditary periodic fever syndrome | FCAS2 · Familial cold autoinflammatory syndrome type 2 · NAPS12 |
| fr | Syndrome de fièvre périodique héréditaire lié à NLRP12 | NAPS12 · SFAF2 · Syndrome familial auto-inflammatoire au froid type 2 · FCAS2 |
| de | NLRP12-assoziiertes hereditäres Periodisches Fiebersyndrom | Autoinflammatorisches Syndrom, kälteinduziertes, familiäres, Typ 2 · FCAS2 · NAPS12 |
| es | Síndrome de fiebre periódica hereditaria asociada a NLRP12 | FCAS2 · NAPS12 · Síndrome autoinflamatorio familiar por frío 2 |
| it | Sindrome da febbre periodica ereditaria associata a NLRP12 | FCAS2 · NAPS12 · Sindrome autoinfiammatoria familiare da freddo 2 |
| nl | NLRP12-geassocieerde erfelijke periodieke koorts-syndroom | FCAS2 · Familiaal koud auto-inflammatoir syndroom 2 · NAPS12 |
| pt | Síndrome de febre periódica hereditária associada a NLRP12 | Síndrome de febre epsódica familiar associada a NALP12 |
| pl | Dziedziczny zespół gorączki okresowej związany z NLRP12 | FCAS2 · NAPS12 |
| cs | Syndrom NLRP12-vázané hereditární periodické horečky | FCAS2 · NAPS12 · Familiární chladový autozánětlivý syndrom, typ 2 |
| uk | NLRP12-асоційований синдром спадкової періодичної лихоманки | Сімейний простудний аутозапальний синдром 2 типу · FCAS2 · NAPS12 |
| zh | NLRP12基因相关遗传性周期性发热综合征 | 家族性寒冷性自身炎症综合征2型 |
| tr | NLRP12-ilişkili kalıtsal periyodik ateş sendromu | FCAS2 · NAPS12 · Ailesel soğuk otoinflamatuar sendrom tip 2 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611762 | E | validated | |
| ICD-10 | E85.0 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | index | validated |
| MONDO | 0012724 | E | validated | |
| MeSH | C567090 | E | validated | |
| UMLS | C2673198 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NLRP12 | Disease-causing germline mutation(s) in | Assessed | HGNC:22938 | ENSG00000142405 | 609648 | 19q13.42 | NLR family pyrin domain containing 12 | 18230725[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 24131530[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24131530[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247868
- This record as JSON: /data/d/247868.json