PKHD1 - Gene browser

PKHD1

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

HCNC Approved Symbol: PKHD1 (HGNC:9016)
Genomic Coordinates: 6:51,615,299 - 52,087,615 (6p12.3-p12.2)
Synonyms: ARPKD, FCYT, FPC, TIGM1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

54Patients

In total, 54 patients were diagnosed with a variant in the PKHD1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

054
Patient count

Polycystic kidney dysplasia: 10 (18.5%)
Patient Count: 10 (18.5%)
% of total patients presenting each phenotype is shown in parentheses.
10 (18.5%)
Cystic kidney disease: 9 (16.7%)
Patient Count: 9 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
9 (16.7%)
Hepatic fibrosis: 8 (14.8%)
Patient Count: 8 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
8 (14.8%)
Medullary nephrocalcinosis: 7 (13.0%)
Patient Count: 7 (13.0%)
% of total patients presenting each phenotype is shown in parentheses.
7 (13.0%)
Abnormal renal morphology: 5 (9.3%)
Patient Count: 5 (9.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (9.3%)