Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Synonyms: ORAS · OTULIN deficiency · OTULIN-related autoinflammatory syndrome · Otulipenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile-onset periodic fever-panniculitis-dermatosis syndrome | ORAS · OTULIN deficiency · OTULIN-related autoinflammatory syndrome · Otulipenia |
| fr | Syndrome infantile de fièvre récurrente-panniculite-dermatose | Déficit en OTULIN · ORAS · Otulipénie · Syndrome auto-inflammatoire infantile associé à OTULIN |
| de | Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom | ORAS · OTULIN-Mangel · OTULIN-assoziiertes autoinflammatorisches Syndrom · Otulipenie |
| es | Síndrome de fiebre periódica-paniculitis-dermatosis de inicio en el lactante | Deficiencia de OTULIN · ORAS · Otulipenia · Síndrome autoinflamatorio asociado a OTULIN |
| it | Sindrome febbre periodica a esordio neonatale - panniculite - dermatosi | |
| nl | Periodieke koorts - panniculitis - dermatose-syndroom met aanvang in de zuigelingentijd | ORAS · OTULIN-deficiëntie · OTULIN-gerelateerd auto-inflammatoir syndroom · Otulipenie |
| pt | Síndrome febre periódica-paniculite-dermatose de início na infância | |
| pl | Zespół okresowej gorączki, zapalenia tkanki tłuszczowej i dermatozy o początku w niemowlęctwie | Otulipenia · Niedobór OTULIN · Zespół autoinflamatoryjny związany z OTULIN |
| cs | Syndrom zahrnující periodické horečky, panniculitidu a dermatózu s nástupem v kojeneckém věku | ORAS · Otulipenia · OTULIN deficiency · OTULIN-related autoinflammatory syndrome · Otulipenie · OTULIN deficit · Autoinflamatorní syndrom související s OTULINem |
| uk | Інфантильний синдром періодичної лихоманки-паннікуліту-дерматозу | ORAS · Дефіцит OTULIN · Аутозапальний синдром, повязаний з OTULIN · Отуліпенія |
| zh | 婴儿期发作的周期性发热-脂膜炎-皮病综合征 | OTULIN相关自身免疫综合征 |
| tr | İnfantil başlangıçlı periyodik ateş-pannikülit-dermatoz sendromu | ORAS · Otulipeni · OTULIN eksikliği · OTULIN-ilişkili otoinflamatuar sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617099 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A60.Y | NTBT | attributed | validated |
| MONDO | 0014912 | E | validated | |
| UMLS | C4310614 | E | validated | |
| GARD | 13198 | 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 (1):
- 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 |
|---|---|---|---|---|---|---|---|---|
| OTULIN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25118 | ENSG00000154124 | 615712 | 5p15.2 | OTU deubiquitinase with linear linkage specificity | 27686184[PMID]_27559085[PMID]_27523608[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 27523608[PMID]_27559085[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27523608[PMID]_27559085[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/500062
- This record as JSON: /data/d/500062.json