VHL - Gene browser

VHL

von Hippel-Lindau tumor suppressor

HCNC Approved Symbol: VHL (HGNC:12687)
Genomic Coordinates: 3:10,141,778 - 10,153,667 (3p25.3)
Synonyms: VHL1
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

17Patients

In total, 17 patients were diagnosed with a variant in the VHL gene.

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

017
Patient count

Pheochromocytoma: 9 (52.9%)
Patient Count: 9 (52.9%)
% of total patients presenting each phenotype is shown in parentheses.
9 (52.9%)
Renal cell carcinoma: 5 (29.4%)
Patient Count: 5 (29.4%)
% of total patients presenting each phenotype is shown in parentheses.
5 (29.4%)
Hemangioblastoma: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)
Astigmatism: 1 (5.9%)
Patient Count: 1 (5.9%)
% of total patients presenting each phenotype is shown in parentheses.
1 (5.9%)
Gowers sign: 1 (5.9%)
Patient Count: 1 (5.9%)
% of total patients presenting each phenotype is shown in parentheses.
1 (5.9%)