DITRA
Synonyms: Deficiency of IL-36R antagonist · Deficiency of IL-36Ra
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, genetic, autoinflammatory syndrome with immune deficiency disease characterized by recurrent and severe flares of generalized pustular psoriasis associated with high fever, asthenia, and systemic inflammation, due to IL36R antagonist deficiency. Psoriatic nail changes (e.g. pitting and onychomadesis) and ichthyosis may occasionally be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DITRA | Deficiency of IL-36R antagonist · Deficiency of IL-36Ra |
| fr | DITRA | Déficit en IL-36Ra · Déficit en antagoniste de l'IL-36R |
| de | DITRA | IL-36R-Antagonisten-Mangel · IL-36Ra-Mangel |
| es | DITRA | Deficiencia del IL-36Ra · Deficiencia del antagonista del IL-36R |
| it | DITRA | Deficit dell'antagonista di IL-36R · Deficit di IL-36Ra |
| nl | DITRA | Deficiëntie van IL-36R-antagonist · Deficiëntie van IL-36Ra |
| pt | DITRA | Deficiência de IL-36Ra · Deficiência de antagonista IL-36R |
| pl | DITRA | Niedobór antagonisty IL-36R · Niedobór IL-36Ra |
| cs | DITRA | Deficit IL-36R antagonisty · Deficit IL-36Ra · Deficit IL-36 receptor antagonisty |
| uk | DITRA | Дефіцит антагоніста IL-36R · Дефіцит IL-36Ra |
| zh | 白介素36受体拮抗剂缺陷 | IL-36R拮抗剂缺乏 |
| tr | DITRA | IL-36Ra eksikliği · IL-36R antagonistinin eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614204 | NTBT | validated | |
| ICD-10 | L40.1 | NTBT | attributed | validated |
| ICD-11 | 4A00.Y | NTBT | attributed | validated |
| MONDO | 0013626 | E | validated | |
| MONDO | 13626 | E | validated | |
| UMLS | C4759670 | E | validated | |
| MedDRA | 10079451 | 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 (6):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:290842Autoinflammatory syndrome with skin involvement
rare skin diseases - ORPHA:622720Genetic autoinflammatory syndrome with skin involvement
rare genetic diseases - ORPHA:324927Pyogenic autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:324942Pyogenic autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL36RN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15561 | ENSG00000136695 | 605507 | 2q14.1 | interleukin 36 receptor antagonist | 24131530[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | 25848350[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25848350[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/404546
- This record as JSON: /data/d/404546.json