hypertrophic cardiomyopathy 17

ORPHA: 155

Overview

hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:155
hypertrophic cardiomyopathy 17
OrphanetORPHA:155
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO