Human Phenotype Ontology 
Grandparent Node:
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Retinal degeneration (HP:0000546)help
Parent Node:
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Retinal atrophy (HP:0001105)help
..Starting node
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Retinal pigment epithelial atrophy (HP:0007722)help
Term ID: 7722
Name: Retinal pigment epithelial atrophy
Synonym:
Definition: Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
Comments:
Reference: HP:0007722
Genes and Diseases:
 
       Child Nodes:
........expandPatchy atrophy of the retinal pigment epithelium (HP:0007791) help

 Sister Nodes: 
..expandGeographic atrophy (HP:0031609) help
..expandMacular atrophy (HP:0007401) help
..expandPeripheral retinal atrophy (HP:0200070) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007722HP:0007722Retinal pigment epithelial atrophy0ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19.826
HP:0007722HP:0007722Retinal pigment epithelial atrophy0ABCA4 CL E G H2434ORPHA:827Stargardt diseaseHP:0040281 - Very frequent826
HP:0007722HP:0007722Retinal pigment epithelial atrophy0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:0007722HP:0007722Retinal pigment epithelial atrophy0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0007722HP:0007722Retinal pigment epithelial atrophy0ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040284 - Very rare10
HP:0007722HP:0007722Retinal pigment epithelial atrophy0BEST1 CL E G H743912703OMIM:611809BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB182
HP:0007722HP:0007722Retinal pigment epithelial atrophy0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0007722HP:0007722Retinal pigment epithelial atrophy0CDHR1 CL E G H9221114550OMIM:613660CONE-ROD DYSTROPHY 15; CORD15147
HP:0007722HP:0007722Retinal pigment epithelial atrophy0CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040284 - Very rare82
HP:0007722HP:0007722Retinal pigment epithelial atrophy0CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040284 - Very rare194
HP:0007722HP:0007722Retinal pigment epithelial atrophy0CNGB3 CL E G H547142153ORPHA:827Stargardt diseaseHP:0040281 - Very frequent194
HP:0007722HP:0007722Retinal pigment epithelial atrophy0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0007722HP:0007722Retinal pigment epithelial atrophy0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040282 - Frequent126
HP:0007722HP:0007722Retinal pigment epithelial atrophy0ELOVL4 CL E G H678514415ORPHA:827Stargardt diseaseHP:0040281 - Very frequent62
HP:0007722HP:0007722Retinal pigment epithelial atrophy0GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040284 - Very rare19
HP:0007722HP:0007722Retinal pigment epithelial atrophy0IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0007722HP:0007722Retinal pigment epithelial atrophy0IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0007722HP:0007722Retinal pigment epithelial atrophy0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0007722HP:0007722Retinal pigment epithelial atrophy0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0007722HP:0007722Retinal pigment epithelial atrophy0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0007722HP:0007722Retinal pigment epithelial atrophy0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5.26
HP:0007722HP:0007722Retinal pigment epithelial atrophy0OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23201
HP:0007722HP:0007722Retinal pigment epithelial atrophy0PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040284 - Very rare80
HP:0007722HP:0007722Retinal pigment epithelial atrophy0PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040284 - Very rare14
HP:0007722HP:0007722Retinal pigment epithelial atrophy0PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2.110
HP:0007722HP:0007722Retinal pigment epithelial atrophy0PROM1 CL E G H88429454ORPHA:827Stargardt diseaseHP:0040281 - Very frequent110
HP:0007722HP:0007722Retinal pigment epithelial atrophy0PRPH2 CL E G H59619942ORPHA:827Stargardt diseaseHP:0040281 - Very frequent159
HP:0007722HP:0007722Retinal pigment epithelial atrophy0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome2
HP:0007722HP:0007722Retinal pigment epithelial atrophy0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040283 - Occasional47
HP:0007722HP:0007722Retinal pigment epithelial atrophy0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0007722HP:0007722Retinal pigment epithelial atrophy0RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040284 - Very rare200
HP:0007722HP:0007722Retinal pigment epithelial atrophy0RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0007722HP:0007722Retinal pigment epithelial atrophy0RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0007722HP:0007722Retinal pigment epithelial atrophy0SNRNP200 CL E G H2302030859OMIM:610359Retinitis pigmentosa 3383
HP:0007722HP:0007722Retinal pigment epithelial atrophy0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0007722HP:0007722Retinal pigment epithelial atrophy0TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040283 - Occasional95
HP:0007722HP:0007722Retinal pigment epithelial atrophy0TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0007722HP:0007722Retinal pigment epithelial atrophy0TOPORS CL E G H1021021653OMIM:609923Retinitis pigmentosa 3161
HP:0007722HP:0007722Retinal pigment epithelial atrophy0TRNT1 CL E G H5109517341OMIM:616959Retinitis pigmentosa and erythrocytic microcytosis28
HP:0007722HP:0007722Retinal pigment epithelial atrophy0TUB CL E G H727512406OMIM:616188Retinal dystrophy and obesity.1
HP:0007722HP:0007722Retinal pigment epithelial atrophy0VCAN CL E G H14622464OMIM:143200Wagner vitreoretinopathy.180
HP:0007722HP:0007791Patchy atrophy of the retinal pigment epithelium1C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040282 - Frequent20
HP:0007722HP:0007791Patchy atrophy of the retinal pigment epithelium1RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040282 - Frequent2


Genes (37) :ABCA4 ALDH3A2 ALMS1 ATF6 BEST1 C1QTNF5 CDHR1 CNGA3 CNGB3 CRX CYP4V2 ELOVL4 GNAT2 IDH3A IMPG2 KIAA1549 LCA5 LRAT MFRP OFD1 PDE6C PDE6H PROM1 PRPH2 RDH11 RLBP1 RPE65 RPGR RS1 SNRNP200 SPATA7 TIMP3 TLCD3B TOPORS TRNT1 TUB VCAN

Diseases (28) :OMIM:601718 ORPHA:827 OMIM:270200 ORPHA:64 ORPHA:49382 OMIM:611809 ORPHA:67042 OMIM:613660 OMIM:120970 ORPHA:41751 OMIM:619007 OMIM:613581 OMIM:618613 ORPHA:364055 OMIM:611040 OMIM:300424 OMIM:608051 ORPHA:436245 ORPHA:85128 OMIM:304020 OMIM:312700 OMIM:610359 ORPHA:59181 OMIM:619531 OMIM:609923 OMIM:616959 OMIM:616188 OMIM:143200
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.