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View Ontology Report


Photoreceptor cells are susceptible to cellular stress - their degeneration and loss is a major cause of blindness. Many genes have identified for the inherited and highly heterogeneous disorders resulting from photoreceptor degeneration. One of the most common form is retinitis pigmentosa (RP) and its patterns of inheritance are varied - some are autosomal dominant (adRP), others are autosomal recessive (arRP), a smaller fraction are X-linked (XLRP) and between 30 to 50% have not yet been class

Pathway Diagram:

Elsevier Inc. phosphatidylcholine light --+> 11-cis-retinal Rdh12 11-cis-retinal ---> all-trans-retinal light 11-cis-retinal NADH NAD+ 11-cis-retinol retinyl ester retinol all-trans-retinal NADP+ NADPH ATP ADP Rbp1 ---- retinol 11-cis-retinal ---- cone opsins cone opsins Rdh8 Rbp1 Rdh10 Rdh5 Rdh11 NAD+ ---> NADH 11-cis-retinol ---> 11-cis-retinal NADPH ---> NADP+ all-trans-retinal ---> retinol Rlbp1 Abca4 Rbp3 Lrat Rpe65 11-cis-retinal ---- Rho visual phototransduction pathway Rho

Genes in Pathway:

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altered retinoid cycle metabolic pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Lrat lecithin retinol acyltransferase ISO RGD PMID:20212494 RGD:8547536 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Rbp3 retinol binding protein 3 ISO RGD PMID:20212494 RGD:8547536 NCBI chr16:10,277,775...10,286,243
Ensembl chr16:10,277,775...10,286,243
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link

Pathway Gene Annotations

Disease Annotations Associated with Genes in the altered retinoid cycle metabolic pathway
Disease TermsGene Symbols
adrenocorticotropic hormone deficiencyRpe65
age related macular degenerationAbca4
age related macular degeneration 2Abca4
Alpers-Huttenlocher syndromeRlbp1
autistic disorderRpe65
autoimmune diseaseRbp3
basal cell carcinomaRpe65
Bietti crystalline corneoretinal dystrophyAbca4
blindnessAbca4 , Rpe65
Bothnia retinal dystrophyRlbp1
breast ductal carcinomaLrat
celiac diseaseLrat
Chemical and Drug Induced Liver InjuryLrat
cleft lipAbca4
Colorectal NeoplasmsAbca4
Concentric Annular Macular DystrophyAbca4
cone dystrophyAbca4
cone-rod dystrophyAbca4 , Lrat , Rdh12 , Rpe65
cone-rod dystrophy 3Abca4
congenital stationary night blindnessAbca4
Experimental Autoimmune UveitisRpe65
Experimental Diabetes MellitusRpe65
Experimental Liver CirrhosisLrat
exudative vitreoretinopathyAbca4
eye diseaseRdh12
fundus albipunctatusRlbp1
fundus dystrophyAbca4 , Lrat , Rbp3 , Rdh12 , Rlbp1 , Rpe65
genetic diseaseAbca4
hepatocellular carcinomaLrat
Hereditary Eye DiseasesLrat , Rlbp1 , Rpe65
intellectual disabilityRpe65
Joubert syndrome 5Abca4
Joubert syndrome 9Rpe65
Leber congenital amaurosisAbca4 , Lrat , Rdh12 , Rpe65
Leber congenital amaurosis 1Lrat
Leber congenital amaurosis 13Rdh12
Leber congenital amaurosis 14Lrat
Leber congenital amaurosis 2Rpe65
Leber hereditary optic neuropathyLrat , Rdh12 , Rpe65
macular degenerationAbca4 , Rdh12 , Rlbp1
Mandibulofacial Dysostosis with Mental DeficiencyAbca4
Newfoundland cone-rod dystrophyRlbp1
night blindnessRlbp1
peripheral nervous system diseaseAbca4
retinal degenerationAbca4 , Rdh12 , Rpe65
Retinal Dystrophy, Early Onset SevereAbca4
retinitis pigmentosaAbca4 , Lrat , Rbp3 , Rdh12 , Rlbp1 , Rpe65
retinitis pigmentosa 19Abca4
retinitis pigmentosa 20Rpe65
retinitis pigmentosa 66Rbp3
retinitis pigmentosa 87Rpe65
squamous cell carcinomaRpe65
Stargardt diseaseAbca4
Stargardt Disease 1Abca4
Stargardt Disease 3Abca4
Vision DisordersAbca4
Vitamin A DeficiencyLrat
Pathway Annotations Associated with Genes in the altered retinoid cycle metabolic pathway

References Associated with the altered retinoid cycle metabolic pathway:

Ontology Path Diagram:

paths to the root
paths to the root

Import into Pathway Studio: