Previous symbols: TIGM1. Aliases: ARPKD, FCYT, FPC.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Autosomal dominant polycystic liver disease | causative germline |
mechanism: PKHD1-associated biliary cyst formation
|
| Caroli disease | causative |
mechanism: Fibrocystin Dysfunction in PKHD1-associated Disease
subtype: Caroli syndrome
variant: Reported PKHD1 p.Arg781* / p.Val836Ala compound heterozygous genotype
animal model: PCK rat (Pkhd1 splicing mutant)
|
| Polycystic Kidney Disease | causative |
mechanism: Ciliary Dysfunction
subtype: Autosomal Recessive PKD (ARPKD); PKD4
scoped to subtype: PKD4
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| autosomal recessive polycystic kidney disease MONDO:0009889 | AR | Definitive 2020-11-11 |
Polycystic Kidney Disease
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.