Požymis
Cornea of eye less than 10mm in diameter
Klinikinis pavadinimas: Microcornea
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Santrauka
- Taip pat vadinama
- Decreased corneal diameter
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Cornea of eye less than 10mm in diameter, and the rest of your genome, with one test.
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Įsigyti savo Genome Test142 genų susiję su Cornea of eye less than 10mm in diameter
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Cornea of eye less than 10mm in diameter. 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 |
|---|---|---|
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Visada | 1 ligoje |
| ARL2ARF like GTPase 2 | Visada | 1 ligoje |
| CRYBA4crystallin beta A4 | Visada | 2 ligose |
| HMGB3high mobility group box 3 | Visada | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Visada | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Visada | 2 ligose |
| RAB18RAB18, member RAS oncogene family | Visada | 2 ligose |
| TENM3teneurin transmembrane protein 3 | Visada | 1 ligoje |
| BCORBCL6 corepressor | Labai dažnai (80–99%) | 4 ligose |
| CRYAAcrystallin alpha A | Labai dažnai (80–99%) | 2 ligose |
| CRYBB1crystallin beta B1 | Labai dažnai (80–99%) | 2 ligose |
| CRYBB2crystallin beta B2 | Labai dažnai (80–99%) | 1 ligoje |
| CRYGCcrystallin gamma C | Labai dažnai (80–99%) | 2 ligose |
| CRYGDcrystallin gamma D | Labai dažnai (80–99%) | 1 ligoje |
| CTDP1CTD phosphatase 1 | Labai dažnai (80–99%) | 2 ligose |
| FANCBFA complementation group B | Labai dažnai (80–99%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Labai dažnai (80–99%) | 3 ligose |
| GJA8gap junction protein alpha 8 | Labai dažnai (80–99%) | 2 ligose |
| MAFMAF bZIP transcription factor | Labai dažnai (80–99%) | 2 ligose |
| NHSNHS actin remodeling regulator | Labai dažnai (80–99%) | 2 ligose |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Labai dažnai (80–99%) | 2 ligose |
| TBC1D20TBC1 domain family member 20 | Labai dažnai (80–99%) | 2 ligose |
| B3GLCTbeta 3-glucosyltransferase | Dažnai (30–79%) | 1 ligoje |
| B9D1B9 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| B9D2B9 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Dažnai (30–79%) | 2 ligose |
| BRD4bromodomain containing 4 | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Dažnai (30–79%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Dažnai (30–79%) | 1 ligoje |
| HMX1H6 family homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| MAB21L2mab-21 like 2 | Dažnai (30–79%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Dažnai (30–79%) | 1 ligoje |
| MED25mediator complex subunit 25 | Dažnai (30–79%) | 2 ligose |
| MITFmelanocyte inducing transcription factor | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 102 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 2 ligose |
| NIPBLNIPBL cohesin loading factor | Dažnai (30–79%) | 2 ligose |
| PXDNperoxidasin | Dažnai (30–79%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 1 ligoje |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Dažnai (30–79%) | 1 ligoje |
| RSPO2R-spondin 2 | Dažnai (30–79%) | 1 ligoje |
| SC5Dsterol-C5-desaturase | Dažnai (30–79%) | 1 ligoje |
| SLC16A12solute carrier family 16 member 12 | Dažnai (30–79%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Dažnai (30–79%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Dažnai (30–79%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Dažnai (30–79%) | 2 ligose |
| TBX4T-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| TCTN1tectonic family member 1 | Dažnai (30–79%) | 1 ligoje |
| TCTN2tectonic family member 2 | Dažnai (30–79%) | 1 ligoje |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM107transmembrane protein 107 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Dažnai (30–79%) | 1 ligoje |
| TMEM67transmembrane protein 67 | Dažnai (30–79%) | 1 ligoje |
| TXNDC15thioredoxin domain containing 15 | Dažnai (30–79%) | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Dažnai (30–79%) | 2 ligose |
| WNT3Wnt family member 3 | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ACTBactin beta | Kartais (5–29%) | 1 ligoje |
| ACTG1actin gamma 1 | Kartais (5–29%) | 1 ligoje |
| ANK1ankyrin 1 | Kartais (5–29%) | 1 ligoje |
| ATOH7atonal bHLH transcription factor 7 | Kartais (5–29%) | 2 ligose |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Kartais (5–29%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CHN1chimerin 1 | Kartais (5–29%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Kartais (5–29%) | 2 ligose |
| CRPPACDP-L-ribitol pyrophosphorylase A | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 1 ligoje |
| DAG1dystroglycan 1 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Kartais (5–29%) | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 2 ligose |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FGF3fibroblast growth factor 3 | Kartais (5–29%) | 1 ligoje |
| FKRPfukutin related protein | Kartais (5–29%) | 1 ligoje |
| FKTNfukutin | Kartais (5–29%) | 1 ligoje |
| FZD4frizzled class receptor 4 | Kartais (5–29%) | 1 ligoje |
| GORABgolgin, RAB6 interacting | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 2 ligose |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 2 ligose |
| KDM6Alysine demethylase 6A | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 2 ligose |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 2 ligose |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| PAX6paired box 6 | Kartais (5–29%) | 2 ligose |
| PLK4polo like kinase 4 | Kartais (5–29%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Kartais (5–29%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Kartais (5–29%) | 1 ligoje |
| POMKprotein O-mannose kinase | Kartais (5–29%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Kartais (5–29%) | 1 ligoje |
| PRR12proline rich 12 | Kartais (5–29%) | 1 ligoje |
| PRSS56serine protease 56 | Kartais (5–29%) | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Kartais (5–29%) | 1 ligoje |
| RBP4retinol binding protein 4 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 2 ligose |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBX22T-box transcription factor 22 | Kartais (5–29%) | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Kartais (5–29%) | 1 ligoje |
| TSHZ3teashirt zinc finger homeobox 3 | Kartais (5–29%) | 1 ligoje |
| TUBBtubulin beta class I | Kartais (5–29%) | 2 ligose |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Retai (1–4 %) | 2 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Retai (1–4 %) | 1 ligoje |
| FKBP14FKBP prolyl isomerase 14 | Retai (1–4 %) | 1 ligoje |
| BEST1bestrophin 1 | Neužfiksuota | 1 ligoje |
| CENPFcentromere protein F | Neužfiksuota | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Neužfiksuota | 1 ligoje |
| FOXE3forkhead box E3 | Neužfiksuota | 1 ligoje |
| FOXL2forkhead box L2 | Neužfiksuota | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Neužfiksuota | 1 ligoje |
| KIF11kinesin family member 11 | Neužfiksuota | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Neužfiksuota | 1 ligoje |
| MIR184microRNA 184 | Neužfiksuota | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Neužfiksuota | 1 ligoje |
| PITX2paired like homeodomain 2 | Neužfiksuota | 1 ligoje |
| PITX3paired like homeodomain 3 | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| TBX15T-box transcription factor 15 | 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
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- 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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