ORPHA:735
Porokeratosis of Mibelli
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare skin disease that is characterized by the presence of brownish single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Porokeratosis of Mibelli | |
| fr | Porokératose de Mibelli | |
| de | Porokeratosis Mibelli | |
| es | Poroqueratosis de Mibelli | |
| it | Porocheratosi di Mibelli | |
| nl | Porokeratose van Mibelli | |
| pt | Poroqueratose de Mibelli | |
| pl | Rogowacenie kanalikowate Mibelliego | |
| cs | Mibelliho porokeratóza | |
| uk | Порокератоз Мібеллі | |
| zh | 汗孔角化病 | |
| tr | Mibelli Porokeratozu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175800 | BTNT | validated | |
| OMIM | 175900 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | ED52 | NTBT | index | validated |
| MONDO | 0019141 | E | validated | |
| UMLS | C0949506 | E | validated | |
| GARD | 4438 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MVK | Disease-causing germline mutation(s) in | Assessed | HGNC:7530 | ENSG00000110921 | 251170 | 12q24.11 | mevalonate kinase | 26202976[PMID] |
| PMVK | Disease-causing germline mutation(s) in | Assessed | HGNC:9141 | ENSG00000163344 | 607622 | 1q21.3 | phosphomevalonate kinase | 26202976[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.
6
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000962 | Hyperkeratosis | |
| HP:0200044 | Porokeratosis | |
| Frequent (79-30%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000989 | Pruritus | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/735
- This record as JSON: /data/d/735.json