raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:90389

Telangiectasia macularis eruptiva perstans

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Unknown
Status
active

This disease is described under Maculopapular cutaneous mastocytosis

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enTelangiectasia macularis eruptiva perstans
frMastocytose cutanée maculeuse télangiectasique
deTeleangiectasia macularis eruptiva perstans
esTelangiectasia macularis eruptiva perstans
itTelangectasia maculare eruttiva perstans
nlTelangiectasia macularis eruptiva perstans
ptMastocitose cutânea, telangiectasia maculosa
plTelangiektatyczna postać mastocytozy skórnej
csTeleangiectasia macularis eruptiva persistans
ukТелеангіектазія плямиста еруптивна персистуюча
zh持久性发疹性斑状毛细血管扩张
trTelanjiektazi makularis eruptiva perstans
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q82.2NTBTattributedvalidated
ICD-112A21.1YNTBTindexvalidated
MONDO0019576Evalidated
MeSHC000715747Evalidated
UMLSC0263402Evalidated
MedDRA10043192Evalidated

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 kinase
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