loading...| Preferred Name | DITRA | |
| Synonyms |
Deficiency of IL-36Ra Deficiency of IL-36R antagonist |
|
| Definitions |
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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_404546 |
|
| alternative_term |
Deficiency of IL-36Ra Deficiency of IL-36R antagonist |
|
| definition |
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. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=404546 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
OMIM:614204 UMLS:C4759670 ICD-10:L40.1 |
|
| label |
DITRA |
|
| notation |
ORPHA:404546 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_619238 http://www.orpha.net/ORDO/Orphanet_290842 http://www.orpha.net/ORDO/Orphanet_622720 http://www.orpha.net/ORDO/Orphanet_324942 |
|
| prefixIRI |
ORDO:Orphanet_404546 |
|
| prefLabel |
DITRA |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 70.0 (Case) |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_619238 http://www.orpha.net/ORDO/Orphanet_290842 http://www.orpha.net/ORDO/Orphanet_622720 http://www.orpha.net/ORDO/Orphanet_324942 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MEDDRA/10079452 | MEDDRA | LOOM |