Požymis
Bulging cornea
Klinikinis pavadinimas: Keratoconus
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
Santrauka
- Taip pat vadinama
- Conical cornea
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Bulging cornea, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test144 genų susiję su Bulging cornea
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Bulging cornea. 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 |
|---|---|---|
| GLI3GLI family zinc finger 3 | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| MIR184microRNA 184 | Visada | 1 ligoje |
| TUBA3Dtubulin alpha 3d | Visada | 1 ligoje |
| ZEB1zinc finger E-box binding homeobox 1 | Visada | 1 ligoje |
| ABCA4ATP binding cassette subfamily A member 4 | Dažnai (30–79%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Dažnai (30–79%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Dažnai (30–79%) | 1 ligoje |
| AHRaryl hydrocarbon receptor | Dažnai (30–79%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Dažnai (30–79%) | 2 ligose |
| ALMS1ALMS1 centrosome and basal body associated protein | Dažnai (30–79%) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Dažnai (30–79%) | 2 ligose |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Dažnai (30–79%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Dažnai (30–79%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Dažnai (30–79%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Dažnai (30–79%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Dažnai (30–79%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Dažnai (30–79%) | 1 ligoje |
| BEST1bestrophin 1 | Dažnai (30–79%) | 1 ligoje |
| CA4carbonic anhydrase 4 | Dažnai (30–79%) | 1 ligoje |
| CABP4calcium binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CERKLCERK like autophagy regulator | Dažnai (30–79%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 1 ligoje |
| CLRN1clarin 1 | Dažnai (30–79%) | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Dažnai (30–79%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Dažnai (30–79%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Dažnai (30–79%) | 3 ligose |
| CRXcone-rod homeobox | Dažnai (30–79%) | 3 ligose |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Dažnai (30–79%) | 1 ligoje |
| DHX38DEAH-box helicase 38 | Dažnai (30–79%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Dažnai (30–79%) | 1 ligoje |
| FAM161AFAM161 centrosomal protein A | Dažnai (30–79%) | 1 ligoje |
| FSCN2fascin actin-bundling protein 2, retinal | Dažnai (30–79%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Dažnai (30–79%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 104 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GUCA1Bguanylate cyclase activator 1B | Dažnai (30–79%) | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | Dažnai (30–79%) | 2 ligose |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| HKDC1hexokinase domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Dažnai (30–79%) | 2 ligose |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| IFT88intraflagellar transport 88 | Dažnai (30–79%) | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Dažnai (30–79%) | 2 ligose |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Dažnai (30–79%) | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Dažnai (30–79%) | 1 ligoje |
| IQCB1IQ motif containing B1 | Dažnai (30–79%) | 1 ligoje |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Dažnai (30–79%) | 1 ligoje |
| KIAA1549KIAA1549 | Dažnai (30–79%) | 1 ligoje |
| KIZkizuna centrosomal protein | Dažnai (30–79%) | 1 ligoje |
| KLHL7kelch like family member 7 | Dažnai (30–79%) | 1 ligoje |
| LCA5lebercilin LCA5 | Dažnai (30–79%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Dažnai (30–79%) | 2 ligose |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Dažnai (30–79%) | 1 ligoje |
| MAKmale germ cell associated kinase | Dažnai (30–79%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Dažnai (30–79%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Dažnai (30–79%) | 1 ligoje |
| NRLneural retina leucine zipper | Dažnai (30–79%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Dažnai (30–79%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Dažnai (30–79%) | 1 ligoje |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Dažnai (30–79%) | 1 ligoje |
| PDE6Aphosphodiesterase 6A | Dažnai (30–79%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Dažnai (30–79%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| PRCDphotoreceptor disc component | Dažnai (30–79%) | 1 ligoje |
| PRDM5PR/SET domain 5 | Dažnai (30–79%) | 2 ligose |
| PROM1prominin 1 | Dažnai (30–79%) | 1 ligoje |
| PRPF3pre-mRNA processing factor 3 | Dažnai (30–79%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Dažnai (30–79%) | 1 ligoje |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Dažnai (30–79%) | 1 ligoje |
| PRPF6pre-mRNA processing factor 6 | Dažnai (30–79%) | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Dažnai (30–79%) | 1 ligoje |
| PRPH2peripherin 2 | Dažnai (30–79%) | 2 ligose |
| RBP3retinol binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| RD3RD3 regulator of GUCY2D | Dažnai (30–79%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Dažnai (30–79%) | 2 ligose |
| REEP6receptor accessory protein 6 | Dažnai (30–79%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Dažnai (30–79%) | 1 ligoje |
| RHOrhodopsin | Dažnai (30–79%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU6-1RNA, U6 small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Dažnai (30–79%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Dažnai (30–79%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Dažnai (30–79%) | 1 ligoje |
| RP1L1RP1 like 1 | Dažnai (30–79%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Dažnai (30–79%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Dažnai (30–79%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Dažnai (30–79%) | 2 ligose |
| RPGRretinitis pigmentosa GTPase regulator | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Dažnai (30–79%) | 2 ligose |
| SAGS-antigen visual arrestin | Dažnai (30–79%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Dažnai (30–79%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Dažnai (30–79%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Dažnai (30–79%) | 1 ligoje |
| SLC7A14solute carrier family 7 member 14 | Dažnai (30–79%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Dažnai (30–79%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Dažnai (30–79%) | 2 ligose |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Dažnai (30–79%) | 1 ligoje |
| TUBTUB bipartite transcription factor | Dažnai (30–79%) | 1 ligoje |
| TUBB4Btubulin beta 4B class IVb | Dažnai (30–79%) | 1 ligoje |
| TULP1TUB like protein 1 | Dažnai (30–79%) | 2 ligose |
| USH2Ausherin | Dažnai (30–79%) | 1 ligoje |
| USP45ubiquitin specific peptidase 45 | Dažnai (30–79%) | 1 ligoje |
| ZNF408zinc finger protein 408 | Dažnai (30–79%) | 1 ligoje |
| ZNF469zinc finger protein 469 | Dažnai (30–79%) | 2 ligose |
| ZNF513zinc finger protein 513 | Dažnai (30–79%) | 1 ligoje |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Kartais (5–29%) | 1 ligoje |
| GNB5G protein subunit beta 5 | Kartais (5–29%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Kartais (5–29%) | 2 ligose |
| ABCA12ATP binding cassette subfamily A member 12 | Retai (1–4 %) | 1 ligoje |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Retai (1–4 %) | 1 ligoje |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Retai (1–4 %) | 1 ligoje |
| ASPRV1aspartic peptidase retroviral like 1 | Retai (1–4 %) | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Retai (1–4 %) | 2 ligose |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Retai (1–4 %) | 1 ligoje |
| LIPNlipase family member N | Retai (1–4 %) | 1 ligoje |
| NIPAL4NIPA like domain containing 4 | Retai (1–4 %) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Retai (1–4 %) | 1 ligoje |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Retai (1–4 %) | 1 ligoje |
| SULT2B1sulfotransferase family 2B member 1 | Retai (1–4 %) | 1 ligoje |
| TGM1transglutaminase 1 | Retai (1–4 %) | 1 ligoje |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Neužfiksuota | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Neužfiksuota | 1 ligoje |
| VSX1visual system homeobox 1 | 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.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites