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Blind spot located at fixation point
Kliiniline nimetus: Central scotoma
An area of depressed vision located at the point of fixation and that interferes with central vision.
Kokkuvõte
- Teised nimetused
- Central blind spot, Central scotomata
- Kehasüsteem
- Abnormality of the eye
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/central-scotoma.json"
page <- fromJSON(url)
page$trait$nameBlind spot located at fixation pointHP:0000603
AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Blind spot located at fixation point-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test40 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- AchromatopsiaReads 8 of these genesCNGB3ATF6CNGA3GNAT2OPN1LWOPN1MWAbout this report →
- Hereditary Optic NeuropathyReads 9 of these genesOPA1DNM1LMT-ND1MT-ND4MT-ND5MT-ND6About this report →
- RDH5-Related Retinopathy (Fundus Albipunctatus)Reads 3 of these genesPRPH2RDH5RLBP1About this report →
- Stargardt DiseaseReads 3 of these genesABCA4ELOVL4PROM1About this report →
Show 36 more reports
- Retinitis PigmentosaReads 15 of these genesRBP3ABCA4PROM1PRPH2CDHR1CFAP418About this report →
- Hereditary Macular DystrophiesReads 5 of these genesPRPH2RDH5RLBP1CYP4V2EFEMP1About this report →
- Congenital Stationary Night BlindnessReads 6 of these genesPRPH2CACNA1FGUCY2DRDH5RHORLBP1About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 6 of these genesPRPH2AIPL1CRXGUCY2DNMNAT1RPGRIP1About this report →
- Colour Vision DeficiencyReads 2 of these genesOPN1LWOPN1MWAbout this report →
- Leigh SyndromeReads 9 of these genesMECRMTRFROPA1MT-ATP6MT-ND1MT-ND4About this report →
- GlaucomaReads 3 of these genesCYP1B1EFEMP1MYOCAbout this report →
- ADAM9-Related Cone-Rod DystrophyReads 1 of these genesADAM9About this report →
- CACNA2D4-Related RetinopathyReads 1 of these genesCACNA2D4About this report →
- Cone-Rod Dystrophy 20 (POC1B)Reads 1 of these genesPOC1BAbout this report →
- Deafness-Dystonia-Optic Neuronopathy SyndromeReads 1 of these genesTIMM8AAbout this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- GUCY2D-Related Dominant Cone-Rod DystrophyReads 1 of these genesGUCY2DAbout this report →
- GUCY2D-Related Recessive RetinopathyReads 1 of these genesGUCY2DAbout this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- PROM1-Related Recessive RetinopathyReads 1 of these genesPROM1About this report →
- RAB28-Related Cone-Rod DystrophyReads 1 of these genesRAB28About this report →
- TTLL5-Related RetinopathyReads 1 of these genesTTLL5About this report →
- Inherited Neurodegenerative DisordersReads 15 of these genesMECRMFSD8OPA1ELOVL4ITM2BCLN3About this report →
- Rare Hereditary Peripheral NeuropathiesReads 11 of these genesFDXRMECRMTRFROPA1MT-ATP6MT-ND1About this report →
- Age-Related Macular DegenerationReads 1 of these genesMFSD8About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Cerebral Amyloid AngiopathyReads 1 of these genesITM2BAbout this report →
- Neuronal Ceroid LipofuscinosisReads 2 of these genesMFSD8CLN3About this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesHGSNATAbout this report →
- Lysosomal Storage DiseaseReads 3 of these genesMFSD8CLN3HGSNATAbout this report →
- Primary Mitochondrial DiseaseReads 4 of these genesMTRFROPA1DNAJC30NDUFS2About this report →
- Autism Spectrum DisorderReads 1 of these genesRIMS1About this report →
- Hereditary AmyloidosisReads 1 of these genesITM2BAbout this report →
- LipodystrophyReads 1 of these genesMFN2About this report →
- Cutis LaxaReads 1 of these genesEFEMP1About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesCFAP418About this report →
- Osteogenesis ImperfectaReads 1 of these genesPPIBAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesELOVL4About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesMECRAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesMFN2About this report →
Lugege välja geenid, mis on seotud Blind spot located at fixation point-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test76 geeni on seotud tunnusega Blind spot located at fixation point
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Blind spot located at fixation point. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| FDXRferredoxin reductase | Alati | Esineb 2 haiguses |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Alati | Esineb 1 haiguses |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Alati | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Alati | Esineb 2 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Alati | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 3 haiguses |
| POC1BPOC1 centriolar protein B | Alati | Esineb 2 haiguses |
| RBP3retinol binding protein 3 | Alati | Esineb 1 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Alati | Esineb 2 haiguses |
| ABCA4ATP binding cassette subfamily A member 4 | Väga sageli (80–99%) | Esineb 3 haiguses |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ITM2Bintegral membrane protein 2B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PROM1prominin 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PRPH2peripherin 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ADAM9ADAM metallopeptidase domain 9 | Sageli (30–79%) | Esineb 1 haiguses |
| AIPL1AIP like 1 HSP90 co-chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| ATF6activating transcription factor 6 | Sageli (30–79%) | Esineb 3 haiguses |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Sageli (30–79%) | Esineb 2 haiguses |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CDHR1cadherin related family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Sageli (30–79%) | Esineb 2 haiguses |
| CFAP418cilia and flagella associated protein 418 | Sageli (30–79%) | Esineb 1 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Sageli (30–79%) | Esineb 1 haiguses |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Sageli (30–79%) | Esineb 2 haiguses |
| CRXcone-rod homeobox | Sageli (30–79%) | Esineb 2 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sageli (30–79%) | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Sageli (30–79%) | Esineb 2 haiguses |
| DRAM2DNA damage regulated autophagy modulator 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| GNAT2G protein subunit alpha transducin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GUCA1Aguanylate cyclase activator 1A | Sageli (30–79%) | Esineb 1 haiguses |
| GUCY2Dguanylate cyclase 2D, retinal | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sageli (30–79%) | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 36 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Sageli (30–79%) | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Sageli (30–79%) | Esineb 1 haiguses |
| OPN1LWopsin 1, long wave sensitive | Sageli (30–79%) | Esineb 1 haiguses |
| OPN1MWopsin 1, medium wave sensitive | Sageli (30–79%) | Esineb 1 haiguses |
| PDE6Cphosphodiesterase 6C | Sageli (30–79%) | Esineb 1 haiguses |
| PDE6Hphosphodiesterase 6H | Sageli (30–79%) | Esineb 1 haiguses |
| PITPNM3PITPNM family member 3 | Sageli (30–79%) | Esineb 2 haiguses |
| RAB28RAB28, member RAS oncogene family | Sageli (30–79%) | Esineb 2 haiguses |
| RAX2retina and anterior neural fold homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RDH5retinol dehydrogenase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| RHOrhodopsin | Sageli (30–79%) | Esineb 1 haiguses |
| RIMS1regulating synaptic membrane exocytosis 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Sageli (30–79%) | Esineb 3 haiguses |
| RP2RP2 activator of ARL3 GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Sageli (30–79%) | Esineb 2 haiguses |
| RPGRIP1RPGR interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RTN4IP1reticulon 4 interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Sageli (30–79%) | Esineb 1 haiguses |
| TLCD3BTLC domain containing 3B | Sageli (30–79%) | Esineb 1 haiguses |
| TTLL5tubulin tyrosine ligase like 5 | Sageli (30–79%) | Esineb 1 haiguses |
| UNC119unc-119 lipid binding chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPIBpeptidylprolyl isomerase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAMD7sterile alpha motif domain containing 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Harva (1–4%) | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| MYOCmyocilin | Harva (1–4%) | Esineb 1 haiguses |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Pole registreeritud | Esineb 1 haiguses |
| MFN2mitofusin 2 | Pole registreeritud | Esineb 1 haiguses |
| TMEM126Atransmembrane protein 126A | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.21-777c9289.
AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
