RDH5 - Gene browser

RDH5

retinol dehydrogenase 5

HCNC Approved Symbol: RDH5 (HGNC:9940)
Genomic Coordinates: 12:55,720,393 - 55,724,705 (12q13.2)
Synonyms: HSD17B9, SDR9C5, RDH1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

26Patients

In total, 26 patients were diagnosed with a variant in the RDH5 gene.

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

026
Patient count

Decreased visual acuity: 9 (34.6%)
Patient Count: 9 (34.6%)
% of total patients presenting each phenotype is shown in parentheses.
9 (34.6%)
Night blindness: 9 (34.6%)
Patient Count: 9 (34.6%)
% of total patients presenting each phenotype is shown in parentheses.
9 (34.6%)
Retinitis pigmentosa: 8 (30.8%)
Patient Count: 8 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
8 (30.8%)
Fundus albipunctatus: 7 (26.9%)
Patient Count: 7 (26.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (26.9%)
Fundus atrophy: 2 (7.7%)
Patient Count: 2 (7.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (7.7%)