loading...| Preferred Name |
Darier disease |
|
| Synonyms |
Darier-White disease |
|
| Definitions |
A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_218 |
|
| alternative_term |
Darier-White disease Keratosis follicularis |
|
| definition |
A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218 |
|
| has_age_of_onset |
Adolescent Adult Childhood |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
MeSH:D007644 OMIM:124200 ICD-10:Q82.8 ICD-11:EC20.2 UMLS:C0022595 MedDRA:10023369 |
|
| label |
Darier disease |
|
| notation |
ORPHA:218 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_218 |
|
| prefLabel |
Darier disease |
|
| present_in |
Slovenia AND has_point_prevalence_average_value : 3.8 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Singapore AND has_annual_incidence_average_value : 0.31 AND has_annual_incidence_range : 1-9 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 3.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 3.4 AND has_point_prevalence_range : 1-9 / 100 000 |
|
| treeView | ||
| subClassOf |