Autosomal Recessive Polycystic Kidney Disease(AR polycystic kidney disease) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Nephrological disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | PKHD1/5314 | PKHD1 ciliary IPT domain containing fibrocystin/polyductin | 6p12.2 | Chr6, NC_000006.12 (51615299..52087615, complement) |
472317 nt | 75 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PKD2/5311 | polycystin 2, transient receptor potential cation channel | 4q22.1 | Chr4, NC_000004.12 (88007635..88077777) |
70143 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PKD1/5310 | polycystin 1, transient receptor potential channel interacting | 16p13.3 | Chr16, NC_000016.10 (2088708..2135898, complement) |
47191 nt | 51 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | CYS1/192668 | cystin 1 | 2p25.1 | Chr2, NC_000002.12 (10056473..10080411, complement) |
23939 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |