Požymis
Clouding of the lens of the eye at birth
Klinikinis pavadinimas: Developmental cataract
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Santrauka
- Taip pat vadinama
- Bilateral congenital cataracts, Cataract, congenital, Congenital cataract, Congenital cataracts, Congenital cataracts, bilateral
- 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 Test159 genų susiję su Clouding of the lens of the eye at birth
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Clouding of the lens of the eye at birth. 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 |
|---|---|---|
| AGKacylglycerol kinase | Visada | 2 ligose |
| BCORBCL6 corepressor | Visada | 1 ligoje |
| CRYGBcrystallin gamma B | Visada | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Visada | 2 ligose |
| GTF2H5general transcription factor IIH subunit 5 | Visada | 2 ligose |
| HMX1H6 family homeobox 1 | Visada | 1 ligoje |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Visada | 2 ligose |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Visada | 1 ligoje |
| LSSlanosterol synthase | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MSMO1methylsterol monooxygenase 1 | Visada | 1 ligoje |
| NUP188nucleoporin 188 | Visada | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Visada | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Visada | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Visada | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Visada | 2 ligose |
| PITX3paired like homeodomain 3 | Visada | 1 ligoje |
| PSMC3proteasome 26S subunit, ATPase 3 | Visada | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Visada | 2 ligose |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 2 ligose |
| SEC31ASEC31 homolog A, COPII component | Visada | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Visada | 1 ligoje |
| SLC33A1solute carrier family 33 member 1 | Visada | 1 ligoje |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Visada | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Visada | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Labai dažnai (80–99%) | 2 ligose |
| RIC1RIC1 partner of RAB6A GEF complex | Labai dažnai (80–99%) | 1 ligoje |
| VPS4Avacuolar protein sorting 4 homolog A | Labai dažnai (80–99%) | 1 ligoje |
| ABCA2ATP binding cassette subfamily A member 2 | Dažnai (30–79%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Dažnai (30–79%) | 4 ligose |
| ANAPC1anaphase promoting complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| ATOH7atonal bHLH transcription factor 7 | Dažnai (30–79%) | 1 ligoje |
| CAV1caveolin 1 | Dažnai (30–79%) | 1 ligoje |
| COL18A1collagen type XVIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 2 ligose |
| FZD4frizzled class receptor 4 | Dažnai (30–79%) | 1 ligoje |
| GFERgrowth factor, augmenter of liver regeneration | Dažnai (30–79%) | 2 ligose |
Rodyti dar 119 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GTPBP2GTP binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| MED25mediator complex subunit 25 | Dažnai (30–79%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Dažnai (30–79%) | 1 ligoje |
| SNUPNsnurportin 1 | Dažnai (30–79%) | 1 ligoje |
| TKTtransketolase | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ARPC4actin related protein 2/3 complex subunit 4 | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 2 ligose |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CRYABcrystallin alpha B | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 1 ligoje |
| FAM111AFAM111 trypsin like peptidase A | Kartais (5–29%) | 2 ligose |
| FAM177A1family with sequence similarity 177 member A1 | Kartais (5–29%) | 1 ligoje |
| FBLN5fibulin 5 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Kartais (5–29%) | 1 ligoje |
| LMNAlamin A/C | Kartais (5–29%) | 1 ligoje |
| MAFAMAF bZIP transcription factor A | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NEU1neuraminidase 1 | Kartais (5–29%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Kartais (5–29%) | 2 ligose |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TELO2telomere maintenance 2 | Kartais (5–29%) | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Kartais (5–29%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Retai (1–4 %) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Retai (1–4 %) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Retai (1–4 %) | 1 ligoje |
| GATA1GATA binding protein 1 | Retai (1–4 %) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Retai (1–4 %) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Retai (1–4 %) | 1 ligoje |
| RPL11ribosomal protein L11 | Retai (1–4 %) | 1 ligoje |
| RPL15ribosomal protein L15 | Retai (1–4 %) | 1 ligoje |
| RPL18ribosomal protein L18 | Retai (1–4 %) | 1 ligoje |
| RPL26ribosomal protein L26 | Retai (1–4 %) | 1 ligoje |
| RPL27ribosomal protein L27 | Retai (1–4 %) | 1 ligoje |
| RPL31ribosomal protein L31 | Retai (1–4 %) | 1 ligoje |
| RPL35ribosomal protein L35 | Retai (1–4 %) | 1 ligoje |
| RPL35Aribosomal protein L35a | Retai (1–4 %) | 1 ligoje |
| RPL5ribosomal protein L5 | Retai (1–4 %) | 1 ligoje |
| RPL8ribosomal protein L8 | Retai (1–4 %) | 1 ligoje |
| RPL9ribosomal protein L9 | Retai (1–4 %) | 1 ligoje |
| RPS10ribosomal protein S10 | Retai (1–4 %) | 1 ligoje |
| RPS15Aribosomal protein S15a | Retai (1–4 %) | 1 ligoje |
| RPS17ribosomal protein S17 | Retai (1–4 %) | 1 ligoje |
| RPS19ribosomal protein S19 | Retai (1–4 %) | 1 ligoje |
| RPS20ribosomal protein S20 | Retai (1–4 %) | 1 ligoje |
| RPS24ribosomal protein S24 | Retai (1–4 %) | 1 ligoje |
| RPS26ribosomal protein S26 | Retai (1–4 %) | 1 ligoje |
| RPS27ribosomal protein S27 | Retai (1–4 %) | 1 ligoje |
| RPS28ribosomal protein S28 | Retai (1–4 %) | 1 ligoje |
| RPS29ribosomal protein S29 | Retai (1–4 %) | 1 ligoje |
| RPS7ribosomal protein S7 | Retai (1–4 %) | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Retai (1–4 %) | 1 ligoje |
| BEST1bestrophin 1 | Neužfiksuota | 1 ligoje |
| BFSP2beaded filament structural protein 2 | Neužfiksuota | 1 ligoje |
| COL4A3collagen type IV alpha 3 chain | Neužfiksuota | 1 ligoje |
| COL4A4collagen type IV alpha 4 chain | Neužfiksuota | 1 ligoje |
| COL4A5collagen type IV alpha 5 chain | Neužfiksuota | 1 ligoje |
| CRYAAcrystallin alpha A | Neužfiksuota | 1 ligoje |
| CRYBA1crystallin beta A1 | Neužfiksuota | 1 ligoje |
| CRYBA2crystallin beta A2 | Neužfiksuota | 1 ligoje |
| CRYBB1crystallin beta B1 | Neužfiksuota | 1 ligoje |
| CRYBB2crystallin beta B2 | Neužfiksuota | 1 ligoje |
| CRYBB3crystallin beta B3 | Neužfiksuota | 1 ligoje |
| CRYGCcrystallin gamma C | Neužfiksuota | 1 ligoje |
| CRYGDcrystallin gamma D | Neužfiksuota | 1 ligoje |
| CTDP1CTD phosphatase 1 | Neužfiksuota | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Neužfiksuota | 1 ligoje |
| EPHA2EPH receptor A2 | Neužfiksuota | 1 ligoje |
| ETFAelectron transfer flavoprotein subunit alpha | Neužfiksuota | 1 ligoje |
| ETFBelectron transfer flavoprotein subunit beta | Neužfiksuota | 1 ligoje |
| ETFDHelectron transfer flavoprotein dehydrogenase | Neužfiksuota | 1 ligoje |
| GCNT2glucosaminyl (N-acetyl) transferase 2 (I blood group) | Neužfiksuota | 1 ligoje |
| KIF1Bkinesin family member 1B | Neužfiksuota | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Neužfiksuota | 1 ligoje |
| MAXMYC associated transcriptional regulator X | Neužfiksuota | 1 ligoje |
| MIR204microRNA 204 | Neužfiksuota | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Neužfiksuota | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Neužfiksuota | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Neužfiksuota | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Neužfiksuota | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Neužfiksuota | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Neužfiksuota | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Neužfiksuota | 1 ligoje |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Neužfiksuota | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Neužfiksuota | 1 ligoje |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Neužfiksuota | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Neužfiksuota | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Neužfiksuota | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Neužfiksuota | 1 ligoje |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Neužfiksuota | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Neužfiksuota | 1 ligoje |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Neužfiksuota | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Neužfiksuota | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Neužfiksuota | 1 ligoje |
| NHSNHS actin remodeling regulator | Neužfiksuota | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Neužfiksuota | 1 ligoje |
| PAX6paired box 6 | Neužfiksuota | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Neužfiksuota | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RETret proto-oncogene | Neužfiksuota | 1 ligoje |
| SIPA1L3signal induced proliferation associated 1 like 3 | Neužfiksuota | 1 ligoje |
| TMEM127transmembrane protein 127 | Neužfiksuota | 1 ligoje |
| VHLvon Hippel-Lindau tumor suppressor | 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.
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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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