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PKHD1

—PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin

Chromosome: 6

Location: 6:51615299-52087618

OMIM: 606702

Ensembl: ENSG00000170927

Official·OMIM:606702 Official·ENSG00000170927

Encodes fibrocystin/polyductin protein. Mutations cause autosomal recessive polycystic kidney disease.

Treatment Roadmap — PKHD1

Preclinical

Phase 1

Phase 2

Phase 3

Approved

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

Associated Diseases

Autosomal Recessive Polycystic Kidney Disease

Autosomal RecessivePrevalence: 1/20000renal

Official·OMIM:263200 Official·ORPHA731

Summary

Clinical Trial

Approved Therapy

Registered Variant