Human Phenotype Ontology 
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Parent Node:
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Abnormality of retinal pigmentation (HP:0007703)help
..Starting node
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Retinal pigment epithelial mottling (HP:0007814)help
Term ID: 7814
Name: Retinal pigment epithelial mottling
Synonym: Focal hypopigmentation of the retinal pigment epithelium; Retinal pigment epithelium irregularity; RPE irregularity; RPE mottling; Salt and pepper retinal pigmentation; Salt and pepper retinopathy
Definition: Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.
Comments:
Reference: HP:0007814
Genes and Diseases:
 
       Child Nodes:
........expandGranular macular appearance (HP:0007793) help

 Sister Nodes: 
..expandPigmentary retinopathy (HP:0000580) 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:0007814HP:0007814Retinal pigment epithelial mottling0ABCA4 CL E G H2434ORPHA:827Stargardt diseaseHP:0040281 - Very frequent826
HP:0007814HP:0007814Retinal pigment epithelial mottling0ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040283 - Occasional10
HP:0007814HP:0007814Retinal pigment epithelial mottling0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0007814HP:0007814Retinal pigment epithelial mottling0ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa.
HP:0007814HP:0007814Retinal pigment epithelial mottling0CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0007814HP:0007814Retinal pigment epithelial mottling0CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0007814HP:0007814Retinal pigment epithelial mottling0CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0007814HP:0007814Retinal pigment epithelial mottling0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0007814HP:0007814Retinal pigment epithelial mottling0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0007814HP:0007814Retinal pigment epithelial mottling0CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040283 - Occasional82
HP:0007814HP:0007814Retinal pigment epithelial mottling0CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040283 - Occasional194
HP:0007814HP:0007814Retinal pigment epithelial mottling0CNGB3 CL E G H547142153ORPHA:827Stargardt diseaseHP:0040281 - Very frequent194
HP:0007814HP:0007814Retinal pigment epithelial mottling0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0007814HP:0007814Retinal pigment epithelial mottling0CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type178
HP:0007814HP:0007814Retinal pigment epithelial mottling0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0007814HP:0007814Retinal pigment epithelial mottling0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040283 - Occasional126
HP:0007814HP:0007814Retinal pigment epithelial mottling0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0007814HP:0007814Retinal pigment epithelial mottling0EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0007814HP:0007814Retinal pigment epithelial mottling0ELOVL4 CL E G H678514415ORPHA:827Stargardt diseaseHP:0040281 - Very frequent62
HP:0007814HP:0007814Retinal pigment epithelial mottling0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0007814HP:0007814Retinal pigment epithelial mottling0GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040283 - Occasional19
HP:0007814HP:0007814Retinal pigment epithelial mottling0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional24
HP:0007814HP:0007814Retinal pigment epithelial mottling0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional124
HP:0007814HP:0007814Retinal pigment epithelial mottling0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly4
HP:0007814HP:0007814Retinal pigment epithelial mottling0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0007814HP:0007814Retinal pigment epithelial mottling0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0007814HP:0007814Retinal pigment epithelial mottling0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0007814HP:0007814Retinal pigment epithelial mottling0PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040283 - Occasional80
HP:0007814HP:0007814Retinal pigment epithelial mottling0PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040283 - Occasional14
HP:0007814HP:0007814Retinal pigment epithelial mottling0PISD CL E G H237618999OMIM:618889LIBERFARB SYNDROME; LIBF1
HP:0007814HP:0007814Retinal pigment epithelial mottling0PITPNM3 CL E G H8339421043OMIM:600977Cone-Rod dystrophy 5135
HP:0007814HP:0007814Retinal pigment epithelial mottling0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0007814HP:0007814Retinal pigment epithelial mottling0PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2110
HP:0007814HP:0007814Retinal pigment epithelial mottling0PROM1 CL E G H88429454ORPHA:827Stargardt diseaseHP:0040281 - Very frequent110
HP:0007814HP:0007814Retinal pigment epithelial mottling0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional159
HP:0007814HP:0007814Retinal pigment epithelial mottling0PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent159
HP:0007814HP:0007814Retinal pigment epithelial mottling0PRPH2 CL E G H59619942ORPHA:827Stargardt diseaseHP:0040281 - Very frequent159
HP:0007814HP:0007814Retinal pigment epithelial mottling0RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent32
HP:0007814HP:0007814Retinal pigment epithelial mottling0RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent107
HP:0007814HP:0007814Retinal pigment epithelial mottling0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040282 - Frequent47
HP:0007814HP:0007814Retinal pigment epithelial mottling0RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent47
HP:0007814HP:0007814Retinal pigment epithelial mottling0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0007814HP:0007814Retinal pigment epithelial mottling0RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040283 - Occasional200
HP:0007814HP:0007814Retinal pigment epithelial mottling0RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0007814HP:0007814Retinal pigment epithelial mottling0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0007814HP:0007814Retinal pigment epithelial mottling0SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0007814HP:0007814Retinal pigment epithelial mottling0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0007814HP:0007814Retinal pigment epithelial mottling0TUBB4B CL E G H1038320771OMIM:617879Leber congenital amaurosis with early-onset deafness
HP:0007814HP:0007814Retinal pigment epithelial mottling0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0007814HP:0007814Retinal pigment epithelial mottling0VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0007814HP:0007793Granular macular appearance1CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040283 - Occasional86
HP:0007814HP:0007793Granular macular appearance1CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040283 - Occasional57
HP:0007814HP:0007793Granular macular appearance1CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0007814HP:0007793Granular macular appearance1EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040283 - Occasional54
HP:0007814HP:0007793Granular macular appearance1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0007814HP:0007793Granular macular appearance1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0007814HP:0007793Granular macular appearance1PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2.110
HP:0007814HP:0007793Granular macular appearance1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0007814HP:0007793Granular macular appearance1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48


Genes (42) :ABCA4 ATF6 ATP6 CACNA2D4 CFH CFI CHM CLCN3 CNGA3 CNGB3 CNNM4 CTNS CYP4V2 DHX16 EFEMP1 ELOVL4 ERCC8 GNAT2 GUCA1A GUCY2D IFT52 LCA5 LRAT NMNAT1 PDE6C PDE6H PISD PITPNM3 POLG PROM1 PRPH2 RDH5 RHO RLBP1 RPE65 RPGR SELENOI SLC6A6 SPATA7 TUBB4B TWNK VPS41

Diseases (29) :ORPHA:827 ORPHA:49382 ORPHA:644 OMIM:551500 OMIM:610478 ORPHA:75376 OMIM:303100 OMIM:619517 OMIM:217080 OMIM:219900 OMIM:219800 ORPHA:41751 OMIM:618733 OMIM:216400 ORPHA:75377 OMIM:617102 ORPHA:364055 OMIM:608553 OMIM:618889 OMIM:600977 OMIM:607459 OMIM:608051 ORPHA:52427 ORPHA:85128 OMIM:304020 ORPHA:506353 OMIM:145350 OMIM:617879 OMIM:619389
 

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