raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:158772

Nodular 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
enNodular urticaria pigmentosa
frUrticaire pigmentaire nodulaire
deUrtikaria pigmentosa, noduläre
esUrticaria pigmentosa nodular
itOrticaria pigmentosa nodulare
nlNodulaire urticaria pigmentosaNodulaire netelroos pigmentosa
ptUrticária pigmentosa nodular
plPokrzywka barwnikowa postać guzkowa
csNodulární urticaria pigmentosa
ukВузликова пігментна кропивянка
zh结节型色素性荨麻疹
trNodüler ürtiker pigmentosa
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q82.2NTBTattributedvalidated
ICD-112A21.10NTBTattributedvalidated
MONDO0015556Evalidated
UMLSC5680684Evalidated

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