PKHD1
Chr 6ARPKHD1 ciliary IPT domain containing fibrocystin/polyductin
Also known as: ARPKD, FCYT, FPC, PCYT, PKD4, TIGM1
The protein encoded by PKHD1 promotes ciliogenesis in renal epithelial cells, regulates centrosome duplication and mitotic spindle assembly, and participates in collecting-duct and biliary differentiation. Mutations cause autosomal recessive polycystic kidney disease with or without hepatic disease, typically presenting in infancy or childhood with enlarged cystic kidneys and potential liver involvement. This gene follows autosomal recessive inheritance and is highly constrained against loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PKHD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
RECRUITINGARPKD Database Study
RECRUITINGNational Registry of Rare Kidney Diseases
RECRUITINGExternal Resources
Links to major genomics databases and tools