Darier disease
Synonyms: Darier-White disease · Keratosis follicularis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Darier disease | Darier-White disease · Keratosis follicularis |
| fr | Maladie de Darier | Dyskératose folliculaire · Maladie de Darier-White |
| de | Darier-Krankheit | Darier-White-Krankheit · Dyskeratosis follicularis · Dyskeratosis follicularis Darier · Keratosis vegetans |
| es | Enfermedad de Darier | Enfermedad de Darier-White · Queratosis folicular |
| it | Malattia di Darier | Cheratosi follicolare · Malattia di Darier-White |
| nl | Ziekte van Darier | Keratosis follicularis · Ziekte van Darier-White |
| pt | Doença de Darier | Queratose folicular |
| pl | Choroba Dariera | Choroba Dariera i White · Rogowacenie pęcherzykowe |
| cs | Darierova nemoc | Darierova-Whiteova choroba · Folikulární keratóza · Darier-Whiteova choroba |
| uk | Хвороба Дарє | Хвороба Дарє-Уайта · Фолікулярний кератоз |
| zh | 毛囊角化病 | 毛囊角化病 |
| tr | Darier hastalığı | Darier-White hastalığı · Keratoz foliküler |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 124200 | E | validated | |
| ICD-10 | Q82.8 | NTBT | inclusion | validated |
| ICD-11 | EC20.2 | NTBT | index | validated |
| MONDO | 0007417 | E | validated | |
| MeSH | D007644 | E | validated | |
| UMLS | C0022595 | E | validated | |
| GARD | 6243 | E | validated | |
| MedDRA | 10023369 | 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 (2):
- ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP2A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:812 | ENSG00000174437 | 108740 | 12q24.11 | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | 22909361[PMID]_23356892[PMID]_23621824[PMID] |
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3 / 100 000 | United Kingdom | Value and class | Validated | 1390140[PMID]_11841374[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Denmark | Value and class | Validated | 13835928[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.8 / 100 000 | Slovenia | Value and class | Validated | 16001099[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.4 / 100 000 | Europe | Value and class | Validated | 1390140[PMID]_11841374[PMID]_16001099[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.31 / 100 000 | Singapore | Value and class | Validated | 15727640[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
25 annotations · validated 2024-07-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0200016 | Acrokeratosis | |
| HP:0045059 | Hyperkeratotic papule | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0000989 | Pruritus | |
| HP:0008410 | Subungual hyperkeratotic fragments | |
| Frequent (79-30%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0001595 | Abnormality of the hair | |
| HP:0005212 | Anal mucosal leukoplakia | |
| HP:0000498 | Blepharitis | |
| HP:0031288 | Cobblestone-like hyperkeratosis | |
| HP:0001808 | Fragile nails | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:6001074 | Longitudinal erythronychia | |
| HP:0010610 | Palmar pits | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0010612 | Plantar pits | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0007302 | Bipolar affective disorder | |
| HP:0000716 | Depression | |
| HP:0001249 | Intellectual disability | |
| HP:0012733 | Macule | |
| HP:0011859 | Punctate keratitis | |
| HP:0001250 | Seizure | |
| HP:0200037 | Skin vesicle | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30137841[PMID]_38705197[PMID]_37545821[PMID]_26945535[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/218
- This record as JSON: /data/d/218.json