ORPHA:158766
Typical urticaria pigmentosa
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Unknown
- Status
- active
This disease is described under Maculopapular cutaneous mastocytosis
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Typical urticaria pigmentosa | |
| fr | Urticaire pigmentaire typique | |
| de | Urtikaria pigmentosa, typische | |
| es | Urticaria pigmentosa típica | |
| it | Orticaria pigmentosa tipica | |
| nl | Typische urticaria pigmentosa | Typische netelroos pigmentosa |
| pt | Urticária pigmentosa típica | |
| pl | Typowa pokrzywka barwnikowa | |
| cs | Typická urticaria pigmentosa | |
| uk | Типова пігментна кропивянка | |
| zh | 典型色素性荨麻疹 | |
| tr | Tipik ürtiker pigmentosa |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.2 | NTBT | attributed | validated |
| ICD-11 | 2A21.10 | NTBT | attributed | validated |
| MONDO | 0015554 | E | validated | |
| UMLS | C5680683 | 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 (1):
- ORPHA:79457Maculopapular cutaneous mastocytosis
rare skin diseases; rare hematological diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIT | Disease-causing germline mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 11505412[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158766
- This record as JSON: /data/d/158766.json