PKHD1 Chromosome 6
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
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What This Gene Does
The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
IPT domain containing
Locus Type
gene with protein product
Location
6p12.3-p12.2
Ensembl
ENSG00000170927
Associated Conditions (38)
Autosomal recessive polycystic kidney disease
PKHD1-related disorder
Inborn genetic diseases
Polycystic kidney disease 4
Polycystic kidney disease
See cases
Incidental Discovery
Autosomal dominant polycystic liver disease
Renal cyst
adult type
Caroli disease
Kidney failure
Nonpapillary renal cell carcinoma
Sarcoma
Biliary tract abnormality
Hereditary disease
Gastric cancer
Familial cancer of breast
Autosomal dominant polycystic kidney disease
Cystic renal disease
+18 more conditions
Key Variants
RS1042054004
Conflicting classifications of pathogenicity
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
Health Risk
RS1054774956
Conflicting classifications of pathogenicity
Autosomal recessive polycystic kidney disease, PKHD1-related disorder, Autosomal recessive polycystic kidney disease
Health Risk
RS112030234
Conflicting classifications of pathogenicity
Autosomal recessive polycystic kidney disease, Inborn genetic diseases, PKHD1-related disorder
Health Risk
RS112249812
Conflicting classifications of pathogenicity
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
Health Risk
RS113402912
Conflicting classifications of pathogenicity
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
Health Risk
RS113562492
Conflicting classifications of pathogenicity
Autosomal recessive polycystic kidney disease, Polycystic kidney disease, Autosomal recessive polycystic kidney disease
Health Risk
RS114237522
Conflicting classifications of pathogenicity
Autosomal recessive polycystic kidney disease, PKHD1-related disorder, Autosomal recessive polycystic kidney disease
Health Risk
RS116809571
Conflicting classifications of pathogenicity
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
Health Risk
RS1204544455
Conflicting classifications of pathogenicity
Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
Health Risk
RS1207597891
Conflicting classifications of pathogenicity
Polycystic kidney disease 4, Polycystic kidney disease 4
Health Risk
RS1229139298
Conflicting classifications of pathogenicity
Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
Health Risk
RS1271940495
Conflicting classifications of pathogenicity
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
Health Risk
All Variants (1463)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2536525400 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2536537920 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2536569044 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2536571427 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2536626103 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS2536664039 | Health Risk | Pathogenic | Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2536669498 | Health Risk | Pathogenic | Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2536680046 | Health Risk | Pathogenic | Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2536682304 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS2536682381 | Health Risk | Pathogenic | Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2537009025 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2537010153 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS2537013459 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2538115342 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2538214996 | Health Risk | Pathogenic | Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2538215743 | Health Risk | Pathogenic | Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2538217218 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS267601070 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS28937907 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS373244595 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS398124478 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal dominant polycystic kidney disease |
| RS398124479 | Health Risk | Pathogenic | — |
| RS398124481 | Health Risk | Pathogenic | — |
| RS398124484 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, PKHD1-related disorder |
| RS398124485 | Health Risk | Pathogenic | — |
| RS398124486 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS398124500 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS398124501 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS398124502 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, PKHD1-related disorder |
| RS398124503 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, PKHD1-related disorder |
| RS727504087 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS727504089 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, PKHD1-related disorder |
| RS727504096 | Health Risk | Pathogenic | Abnormal intrahepatic bile duct morphology, Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS746471701 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS746838237 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, PKHD1-related disorder |
| RS746976599 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS747895516 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS748196998 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS753859207 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS754392766 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS755183117 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS757590581 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS758404336 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS758732107 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS760222236 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease, PKHD1-related disorder |
| RS761075492 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS761463388 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS764216969 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS765251347 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, PKHD1-related disorder |
| RS765390756 | Health Risk | Pathogenic | Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |