xeroderma pigmentosum group A
ORPHA: 276249
Overview
xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has material basis in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:276249xeroderma pigmentosum group A
| Orphanet | ORPHA:276249 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO