ORPHA:79152
Disseminated superficial actinic porokeratosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disseminated superficial actinic porokeratosis | |
| fr | Porokératose actinique superficielle disséminée | |
| de | Porokeratose, aktinische disseminierte superfizielle | Porokeratosis superficialis disseminata actinica (PSDA) |
| es | Poroqueratosis actínica superficial diseminada | |
| it | Porocheratosi attinica disseminata superficiale | |
| nl | Gedissemineerde oppervlakkige actinische porokeratose | |
| pt | Poroqueratose actínica disseminada superficial | |
| pl | Rozsiana powierzchowna posłoneczna porokeratoza | |
| cs | Diseminovaná superficiální aktinická porokeratóza | |
| uk | Дисемінований поверхневий актинічний порокератоз | |
| zh | 播散性浅表光线性汗孔角化病 | |
| tr | Yaygın yüzeysel aktinik porokeratoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175900 | BTNT | validated | |
| OMIM | 607728 | BTNT | validated | |
| OMIM | 612293 | BTNT | validated | |
| OMIM | 612353 | BTNT | validated | |
| OMIM | 614714 | BTNT | validated | |
| OMIM | 616063 | BTNT | validated | |
| OMIM | 616631 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | ED52 | NTBT | index | validated |
| MONDO | 0019212 | E | validated | |
| UMLS | C0265970 | E | validated | |
| GARD | 10983 | E | validated | |
| MedDRA | 10085766 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183444Genetic porokeratosis
rare genetic diseases - ORPHA:79358Porokeratosis
rare skin diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FDPS | Disease-causing germline mutation(s) in | Assessed | HGNC:3631 | ENSG00000160752 | 134629 | 1q22 | farnesyl diphosphate synthase | 26202976[PMID] |
| MVD | Disease-causing germline mutation(s) in | Assessed | HGNC:7529 | ENSG00000167508 | 603236 | 16q24.2 | mevalonate diphosphate decarboxylase | 26202976[PMID] |
| MVK | Disease-causing germline mutation(s) in | Assessed | HGNC:7530 | ENSG00000110921 | 251170 | 12q24.11 | mevalonate kinase | 22983302[PMID]_26202976[PMID] |
| SLC17A9 | Disease-causing germline mutation(s) in | Assessed | HGNC:16192 | ENSG00000101194 | 612107 | 20q13.33 | solute carrier family 17 member 9 | 25180256[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_Pr KANITAKIS Jean[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200044 | Porokeratosis | |
| Frequent (79-30%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| Occasional (29-5%) | ||
| HP:0000989 | Pruritus | |
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79152
- This record as JSON: /data/d/79152.json