Træk
Clouding of the lens of the eye at birth
Klinisk navn: 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.
Resumé
- Også kaldet
- Bilateral congenital cataracts, Cataract, congenital, Congenital cataract, Congenital cataracts, Congenital cataracts, bilateral
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test159 gener knyttet til Clouding of the lens of the eye at birth
Ændringer i disse gener forårsager sjældne tilstande, hvor Clouding of the lens of the eye at birth ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AGKacylglycerol kinase | Altid | I 2 tilstande |
| BCORBCL6 corepressor | Altid | I 1 tilstand |
| CRYGBcrystallin gamma B | Altid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altid | I 2 tilstande |
| GTF2H5general transcription factor IIH subunit 5 | Altid | I 2 tilstande |
| HMX1H6 family homeobox 1 | Altid | I 1 tilstand |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Altid | I 2 tilstande |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altid | I 1 tilstand |
| LSSlanosterol synthase | Altid | I 1 tilstand |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| MSMO1methylsterol monooxygenase 1 | Altid | I 1 tilstand |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altid | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Altid | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Altid | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Altid | I 2 tilstande |
| PITX3paired like homeodomain 3 | Altid | I 1 tilstand |
| PSMC3proteasome 26S subunit, ATPase 3 | Altid | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Altid | I 2 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 2 tilstande |
| SEC31ASEC31 homolog A, COPII component | Altid | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Altid | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Altid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altid | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Altid | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Meget ofte (80–99 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Meget ofte (80–99 %) | I 2 tilstande |
| RIC1RIC1 partner of RAB6A GEF complex | Meget ofte (80–99 %) | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Meget ofte (80–99 %) | I 1 tilstand |
| ABCA2ATP binding cassette subfamily A member 2 | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 4 tilstande |
| ANAPC1anaphase promoting complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| ATOH7atonal bHLH transcription factor 7 | Ofte (30–79 %) | I 1 tilstand |
| CAV1caveolin 1 | Ofte (30–79 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstande |
| FZD4frizzled class receptor 4 | Ofte (30–79 %) | I 1 tilstand |
| GFERgrowth factor, augmenter of liver regeneration | Ofte (30–79 %) | I 2 tilstande |
Vis 119 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Ofte (30–79 %) | I 1 tilstand |
| SNUPNsnurportin 1 | Ofte (30–79 %) | I 1 tilstand |
| TKTtransketolase | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARPC4actin related protein 2/3 complex subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Nogle gange (5–29 %) | I 2 tilstande |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Nogle gange (5–29 %) | I 2 tilstande |
| FAM177A1family with sequence similarity 177 member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBLN5fibulin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Nogle gange (5–29 %) | I 1 tilstand |
| MAFAMAF bZIP transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Nogle gange (5–29 %) | I 2 tilstande |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjældent (1–4%) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Sjældent (1–4%) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sjældent (1–4%) | I 1 tilstand |
| GATA1GATA binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Sjældent (1–4%) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Sjældent (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjældent (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjældent (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjældent (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjældent (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjældent (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjældent (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjældent (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjældent (1–4%) | I 1 tilstand |
| RPL5ribosomal protein L5 | Sjældent (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjældent (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjældent (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjældent (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjældent (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjældent (1–4%) | I 1 tilstand |
| RPS19ribosomal protein S19 | Sjældent (1–4%) | I 1 tilstand |
| RPS20ribosomal protein S20 | Sjældent (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjældent (1–4%) | I 1 tilstand |
| RPS26ribosomal protein S26 | Sjældent (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjældent (1–4%) | I 1 tilstand |
| RPS28ribosomal protein S28 | Sjældent (1–4%) | I 1 tilstand |
| RPS29ribosomal protein S29 | Sjældent (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjældent (1–4%) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Sjældent (1–4%) | I 1 tilstand |
| BEST1bestrophin 1 | Ikke registreret | I 1 tilstand |
| BFSP2beaded filament structural protein 2 | Ikke registreret | I 1 tilstand |
| COL4A3collagen type IV alpha 3 chain | Ikke registreret | I 1 tilstand |
| COL4A4collagen type IV alpha 4 chain | Ikke registreret | I 1 tilstand |
| COL4A5collagen type IV alpha 5 chain | Ikke registreret | I 1 tilstand |
| CRYAAcrystallin alpha A | Ikke registreret | I 1 tilstand |
| CRYBA1crystallin beta A1 | Ikke registreret | I 1 tilstand |
| CRYBA2crystallin beta A2 | Ikke registreret | I 1 tilstand |
| CRYBB1crystallin beta B1 | Ikke registreret | I 1 tilstand |
| CRYBB2crystallin beta B2 | Ikke registreret | I 1 tilstand |
| CRYBB3crystallin beta B3 | Ikke registreret | I 1 tilstand |
| CRYGCcrystallin gamma C | Ikke registreret | I 1 tilstand |
| CRYGDcrystallin gamma D | Ikke registreret | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registreret | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ikke registreret | I 1 tilstand |
| EPHA2EPH receptor A2 | Ikke registreret | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registreret | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registreret | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registreret | I 1 tilstand |
| GCNT2glucosaminyl (N-acetyl) transferase 2 (I blood group) | Ikke registreret | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registreret | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ikke registreret | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Ikke registreret | I 1 tilstand |
| MIR204microRNA 204 | Ikke registreret | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ikke registreret | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ikke registreret | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ikke registreret | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Ikke registreret | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ikke registreret | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ikke registreret | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ikke registreret | I 1 tilstand |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ikke registreret | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ikke registreret | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ikke registreret | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ikke registreret | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ikke registreret | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registreret | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ikke registreret | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registreret | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ikke registreret | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ikke registreret | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ikke registreret | I 1 tilstand |
| NHSNHS actin remodeling regulator | Ikke registreret | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ikke registreret | I 1 tilstand |
| PAX6paired box 6 | Ikke registreret | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registreret | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RETret proto-oncogene | Ikke registreret | I 1 tilstand |
| SIPA1L3signal induced proliferation associated 1 like 3 | Ikke registreret | I 1 tilstand |
| TMEM127transmembrane protein 127 | Ikke registreret | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger