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SMPD1

—Sphingomyelin Phosphodiesterase 1

Chromosome: 11

Location: 11:6390414-6394998

OMIM: 607608

Ensembl: ENSG00000166311

Official·OMIM:607608 Official·ENSG00000166311

Encodes acid sphingomyelinase enzyme. Mutations cause Niemann-Pick type A/B.

Treatment Roadmap — SMPD1

Preclinical

Phase 1

Phase 2

1 trial

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Niemann-Pick Disease Type A/B

Autosomal RecessivePrevalence: 1/250000lysosomal

Official·OMIM:257200 Official·ORPHA77292

Summary

Clinical Trial

Approved Therapy

Registered Variant