Loeys-Dietz syndrome 1

ORPHA: 97295

Overview

Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFBR1 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:97295
Loeys-Dietz syndrome 1
OrphanetORPHA:97295
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO