Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Synonyms: NLRC4-related autoinflammatory syndrome with macrophage activation syndrome · NLRC4-related infantile enterocolitis-autoinflammatory syndrome · NLRC4-related macrophage activation syndrome · NLRC4-related MAS · NLRC4-related autoinflammatory syndrome with MAS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Periodic fever-infantile enterocolitis-autoinflammatory syndrome | NLRC4-related autoinflammatory syndrome with macrophage activation syndrome · NLRC4-related infantile enterocolitis-autoinflammatory syndrome · NLRC4-related macrophage activation syndrome · NLRC4-related MAS · NLRC4-related autoinflammatory syndrome with MAS |
| fr | Syndrome auto-inflammatoire-fièvre périodique-entérocolite infantile | SAM associé à NLRC4 · Syndrome auto-inflammatoire avec SAM associé à NLRC4 · Syndrome auto-inflammatoire avec syndrome d'activation des macrophages associé à NLRC4 · Syndrome auto-inflammatoire-entérocolite infantile associé à NLRC4 · Syndrome d'activation des macrophages associé à NLRC4 |
| de | Periodisches Fieber-infantile Enterocolitis-autoinflammatorisches Syndrom | Makrophagen-Aktivierungssyndrom, NLRC4-abhängiges · NLRC4-abhängige infantile Enterocolitis mit Autoinflammation · NLRC4-abhängiges autoinflammatorisches Syndrom mit Makrophagen-Aktivierungssyndrom · NLRC4-assoziiertes MAS · NLRC4-assoziiertes autoinflammatorisches Syndrom mit MAS |
| es | Síndrome autoinflamatorio-fiebre periódica-enterocolitis del lactante | Síndrome autoinflamatorio-enterocolitis del lactante asociado al gen NLRC4 · Síndrome de activación del macrófago asociado al gen NLRC4 · Síndrome de activación macrofágica asociado al gen NLRC4 |
| it | Sindrome autoinfiammatoria-febbre periodica-enterocolite infantile | MAS correlata a NLRC4 · Sindrome autoinfiammatoria con attivazione dei macrofagi correlata a NLRC4 · Sindrome autoinfiammatoria con enterocolite infantile correlata a NLRC4 · Sindrome autoinfiammatoria correlata a NLRC4 con MAS · Sindrome da attivazione dei macrofagi correlata a NLRC4 |
| nl | Periodieke koorts - infantiele enterocolitis - auto-inflammatoir syndroom | NLRC4-gerelateerd MAS · NLRC4-gerelateerd auto-inflammatoir syndroom met MAS · NLRC4-gerelateerd auto-inflammatoir syndroom met macrofaagactivatiesyndroom · NLRC4-gerelateerd infantiele enterocolitis - auto-inflammatoir syndroom · NLRC4-gerelateerd macrofaagactivatiesyndroom |
| pt | Síndrome autoinflamatório de febre periódica-enterocolite da infância | |
| pl | Zespół gorączki okresowej, dziecięcego zapalenia jelit i autozapalenia | Zespół aktywacji makrofagów zależny od NLRC4 · Zespół dziecięcego zapalenia jelit i autozapalenia zależny od NLRC4 · Zespół autozapalenia z zespołem aktywacji makrofagów zależny od NLRC4 · Zespół dziecięcego zapalenia jelit i choroby autoinflamatoryjnej zależny od NLRC4 |
| cs | Autozánětlivý syndrom s periodickými horečkami a infantilní enterokolitidou | = en |
| uk | Періодична лихоманка - дитячий ентероколіт - аутозапальний синдром | Аутозапальний синдром, повязаний з NLRC4, із синдромом активації макрофагів · Аутозапальний синдром, повязаний з NLRC4, з МАС · Повязаний з NLRC4 дитячий ентероколіт - аутозапальний синдром · Синдром активації макрофагів, повязаний з NLRC4 · MAS, повязані з NLRC4 |
| zh | 周期性发热-小儿小肠结肠炎-自体炎症综合征 | NLRC4相关的自身免疫性疾病合并和巨噬细胞活化综合征 |
| tr | Periyodik ateş-infantil enterokolit-otoinflamatuar sendrom | NLRC4-ilişkili MAS · NLRC4-ilişkili makrofaj aktivasyon sendromu · MAS ile seyreden NLRC4 ilişkili otoinflamatuar sendrom · NLRC4-ilişkili infantil enterokolit-otoinflamatuar sendrom · Makrofaj aktivasyon sendromu ile seyreden NLRC4-ilişkili otoinflamatuar sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616050 | E | validated | |
| ICD-10 | E85.0 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | attributed | validated |
| MONDO | 0014472 | E | validated | |
| UMLS | C4015067 | 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 (4):
- 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 - ORPHA:717871Rare systemic or rheumatologic disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NLRC4 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:16412 | ENSG00000091106 | 606831 | 2p22.3 | NLR family CARD domain containing 4 | 25217960[PMID]_25217959[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 25217959[PMID]_25217960[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25217959[PMID]_25217960[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436166
- This record as JSON: /data/d/436166.json