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RDH5

Synonyms
9cRDH, HSD17B9, RDH1, SDR9C5
External resources
Summary
This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
13
Likely pathogenic
9
VUS
923
Likely benign
165
Benign
260

Patient Phenotypes

Proportions of phenotypes among 21 patients carrying pathogenic or likely pathogenic variants on RDH5 gene are displayed below. The following symptoms were found in patients with a variant in RDH5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
52.4%
Abnormality of the nervous system
28.6%
Abnormality of the cardiovascular system
19%
Abnormality of head or neck
9.5%
Abnormality of metabolism homeostasis
9.5%
Abnormality of the digestive system
9.5%
Abnormality of the ear
9.5%
Abnormality of the musculoskeletal system
9.5%
Constitutional symptom
9.5%
Growth abnormality
9.5%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of the immune system
4.8%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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