NPHP3 - Gene browser

NPHP3

nephrocystin 3

HCNC Approved Symbol: NPHP3 (HGNC:7907)
Genomic Coordinates: 3:132,680,609 - 132,722,409 (3q22.1)
Synonyms: NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

21Patients

In total, 21 patients were diagnosed with a variant in the NPHP3 gene.

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

021
Patient count

Stage 5 chronic kidney disease: 8 (38.1%)
Patient Count: 8 (38.1%)
% of total patients presenting each phenotype is shown in parentheses.
8 (38.1%)
End stage renal disease: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Astigmatism: 2 (9.5%)
Patient Count: 2 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.5%)
Cirrhosis: 2 (9.5%)
Patient Count: 2 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.5%)
Neonatal cholestatic liver disease: 2 (9.5%)
Patient Count: 2 (9.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.5%)