Back to discover

PKHD1

Gene

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

HGNCHGNC:9016EnsemblENSG00000170927NCBI Gene5314
Locus: gene with protein productLocation: 6p12.3-p12.2

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asTIGM1 · ARPKD · FCYT · FPC
View full nomenclature history (11)
Previous symbolsTIGM1
Alias symbolsARPKD, FCYT, FPC
Previous namesTIG multiple domains 1, polycystic kidney and hepatic disease 1 (autosomal recessive), PKHD1, fibrocystin/polyductin
Alias namestigmin, polyductin, fibrocystin, fibrocystin/polyductin complex

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic Diseases, Inborn
Caroli Disease

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

IPT domain containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.