Požymis
Blind spot located at fixation point
Klinikinis pavadinimas: Central scotoma
An area of depressed vision located at the point of fixation and that interferes with central vision.
Santrauka
- Taip pat vadinama
- Central blind spot, Central scotomata
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test76 genų susiję su Blind spot located at fixation point
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Blind spot located at fixation point. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FDXRferredoxin reductase | Visada | 2 ligose |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Visada | 1 ligoje |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Visada | 1 ligoje |
| MFSD8major facilitator superfamily domain containing 8 | Visada | 2 ligose |
| MTRFRmitochondrial translation release factor in rescue | Visada | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Visada | 3 ligose |
| POC1BPOC1 centriolar protein B | Visada | 2 ligose |
| RBP3retinol binding protein 3 | Visada | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Visada | 2 ligose |
| ABCA4ATP binding cassette subfamily A member 4 | Labai dažnai (80–99%) | 3 ligose |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Labai dažnai (80–99%) | 2 ligose |
| ELOVL4ELOVL fatty acid elongase 4 | Labai dažnai (80–99%) | 1 ligoje |
| ITM2Bintegral membrane protein 2B | Labai dažnai (80–99%) | 1 ligoje |
| PROM1prominin 1 | Labai dažnai (80–99%) | 4 ligose |
| PRPH2peripherin 2 | Labai dažnai (80–99%) | 3 ligose |
| ADAM9ADAM metallopeptidase domain 9 | Dažnai (30–79%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Dažnai (30–79%) | 1 ligoje |
| ATF6activating transcription factor 6 | Dažnai (30–79%) | 3 ligose |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Dažnai (30–79%) | 2 ligose |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Dažnai (30–79%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 2 ligose |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 1 ligoje |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Dažnai (30–79%) | 1 ligoje |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Dažnai (30–79%) | 2 ligose |
| CRXcone-rod homeobox | Dažnai (30–79%) | 2 ligose |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Dažnai (30–79%) | 1 ligoje |
| DNM1Ldynamin 1L | Dažnai (30–79%) | 2 ligose |
| DRAM2DNA damage regulated autophagy modulator 2 | Dažnai (30–79%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 1 ligoje |
| GNAT2G protein subunit alpha transducin 2 | Dažnai (30–79%) | 1 ligoje |
| GUCA1Aguanylate cyclase activator 1A | Dažnai (30–79%) | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Dažnai (30–79%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Dažnai (30–79%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 36 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Dažnai (30–79%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Dažnai (30–79%) | 1 ligoje |
| OPN1LWopsin 1, long wave sensitive | Dažnai (30–79%) | 1 ligoje |
| OPN1MWopsin 1, medium wave sensitive | Dažnai (30–79%) | 1 ligoje |
| PDE6Cphosphodiesterase 6C | Dažnai (30–79%) | 1 ligoje |
| PDE6Hphosphodiesterase 6H | Dažnai (30–79%) | 1 ligoje |
| PITPNM3PITPNM family member 3 | Dažnai (30–79%) | 2 ligose |
| RAB28RAB28, member RAS oncogene family | Dažnai (30–79%) | 2 ligose |
| RAX2retina and anterior neural fold homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| RDH5retinol dehydrogenase 5 | Dažnai (30–79%) | 1 ligoje |
| RHOrhodopsin | Dažnai (30–79%) | 1 ligoje |
| RIMS1regulating synaptic membrane exocytosis 1 | Dažnai (30–79%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Dažnai (30–79%) | 3 ligose |
| RP2RP2 activator of ARL3 GTPase | Dažnai (30–79%) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Dažnai (30–79%) | 2 ligose |
| RPGRIP1RPGR interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| RTN4IP1reticulon 4 interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Dažnai (30–79%) | 1 ligoje |
| TLCD3BTLC domain containing 3B | Dažnai (30–79%) | 1 ligoje |
| TTLL5tubulin tyrosine ligase like 5 | Dažnai (30–79%) | 1 ligoje |
| UNC119unc-119 lipid binding chaperone | Dažnai (30–79%) | 1 ligoje |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Kartais (5–29%) | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Kartais (5–29%) | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Kartais (5–29%) | 1 ligoje |
| SAMD7sterile alpha motif domain containing 7 | Kartais (5–29%) | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Kartais (5–29%) | 1 ligoje |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Retai (1–4 %) | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Retai (1–4 %) | 1 ligoje |
| MYOCmyocilin | Retai (1–4 %) | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Neužfiksuota | 1 ligoje |
| MFN2mitofusin 2 | Neužfiksuota | 1 ligoje |
| TMEM126Atransmembrane protein 126A | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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