raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:158769

Plaque-form 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
LangNameSynonyms
enPlaque-form urticaria pigmentosa
frUrticaire pigmentaire en plaques
deUrtikaria pigmentosa, plaqueförmige
esUrticaria pigmentosa en placas
itOrticaria pigmentosa a placche
nlUrticaria pigmentosa met plaquevormingNetelroos pigmentosa met plaquevorming
ptUrticária pigmentosa em forma de placa
plPokrzywka barwnikowa postać tarczkowa
csPlakovitá urticaria pigmentosa
ukБляшкова пігментна кропивянка
zh斑块型色素性荨麻疹
trPlak şeklindeki ürtiker pigmentosa
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q82.2NTBTattributedvalidated
ICD-112A21.10NTBTattributedvalidated
MONDO0015555Evalidated
UMLSC5680682Evalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
KITDisease-causing germline mutation(s) inAssessedHGNC:6342ENSG000001574041649204q12KIT proto-oncogene, receptor tyrosine kinase11505412[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card