Tunnus
Clouding of the lens of the eye at birth
Kliiniline nimetus: 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.
Kokkuvõte
- Teised nimetused
- Bilateral congenital cataracts, Cataract, congenital, Congenital cataract, Congenital cataracts, Congenital cataracts, bilateral
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Clouding of the lens of the eye at birth, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test159 geeni on seotud tunnusega Clouding of the lens of the eye at birth
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Clouding of the lens of the eye at birth. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AGKacylglycerol kinase | Alati | Esineb 2 haiguses |
| BCORBCL6 corepressor | Alati | Esineb 1 haiguses |
| CRYGBcrystallin gamma B | Alati | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Alati | Esineb 2 haiguses |
| GTF2H5general transcription factor IIH subunit 5 | Alati | Esineb 2 haiguses |
| HMX1H6 family homeobox 1 | Alati | Esineb 1 haiguses |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Alati | Esineb 2 haiguses |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Alati | Esineb 1 haiguses |
| LSSlanosterol synthase | Alati | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| MSMO1methylsterol monooxygenase 1 | Alati | Esineb 1 haiguses |
| NUP188nucleoporin 188 | Alati | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Alati | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Alati | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Alati | Esineb 1 haiguses |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Alati | Esineb 2 haiguses |
| PITX3paired like homeodomain 3 | Alati | Esineb 1 haiguses |
| PSMC3proteasome 26S subunit, ATPase 3 | Alati | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Alati | Esineb 2 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alati | Esineb 2 haiguses |
| SEC31ASEC31 homolog A, COPII component | Alati | Esineb 1 haiguses |
| SIL1SIL1 nucleotide exchange factor | Alati | Esineb 1 haiguses |
| SLC33A1solute carrier family 33 member 1 | Alati | Esineb 1 haiguses |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alati | Esineb 1 haiguses |
| TBC1D20TBC1 domain family member 20 | Alati | Esineb 1 haiguses |
| CHD6chromodomain helicase DNA binding protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| RIC1RIC1 partner of RAB6A GEF complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS4Avacuolar protein sorting 4 homolog A | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCA2ATP binding cassette subfamily A member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sageli (30–79%) | Esineb 4 haiguses |
| ANAPC1anaphase promoting complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATOH7atonal bHLH transcription factor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| CAV1caveolin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COL18A1collagen type XVIII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 2 haiguses |
| FZD4frizzled class receptor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GFERgrowth factor, augmenter of liver regeneration | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 119 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| GTPBP2GTP binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MED25mediator complex subunit 25 | Sageli (30–79%) | Esineb 1 haiguses |
| NDPnorrin cystine knot growth factor NDP | Sageli (30–79%) | Esineb 1 haiguses |
| SNUPNsnurportin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TKTtransketolase | Sageli (30–79%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARPC4actin related protein 2/3 complex subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Mõnikord (5–29%) | Esineb 2 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRYABcrystallin alpha B | Mõnikord (5–29%) | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOCK6dedicator of cytokinesis 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM111AFAM111 trypsin like peptidase A | Mõnikord (5–29%) | Esineb 2 haiguses |
| FAM177A1family with sequence similarity 177 member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBLN5fibulin 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2E2general transcription factor IIE subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCTD1potassium channel tetramerization domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNAlamin A/C | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFAMAF bZIP transcription factor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Mõnikord (5–29%) | Esineb 2 haiguses |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC5structural maintenance of chromosomes 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TARS1threonyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TELO2telomere maintenance 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Harva (1–4%) | Esineb 1 haiguses |
| COL4A1collagen type IV alpha 1 chain | Harva (1–4%) | Esineb 1 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Harva (1–4%) | Esineb 1 haiguses |
| GATA1GATA binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| HEATR3HEAT repeat containing 3 | Harva (1–4%) | Esineb 1 haiguses |
| KMT2Clysine methyltransferase 2C | Harva (1–4%) | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Harva (1–4%) | Esineb 1 haiguses |
| RPL15ribosomal protein L15 | Harva (1–4%) | Esineb 1 haiguses |
| RPL18ribosomal protein L18 | Harva (1–4%) | Esineb 1 haiguses |
| RPL26ribosomal protein L26 | Harva (1–4%) | Esineb 1 haiguses |
| RPL27ribosomal protein L27 | Harva (1–4%) | Esineb 1 haiguses |
| RPL31ribosomal protein L31 | Harva (1–4%) | Esineb 1 haiguses |
| RPL35ribosomal protein L35 | Harva (1–4%) | Esineb 1 haiguses |
| RPL35Aribosomal protein L35a | Harva (1–4%) | Esineb 1 haiguses |
| RPL5ribosomal protein L5 | Harva (1–4%) | Esineb 1 haiguses |
| RPL8ribosomal protein L8 | Harva (1–4%) | Esineb 1 haiguses |
| RPL9ribosomal protein L9 | Harva (1–4%) | Esineb 1 haiguses |
| RPS10ribosomal protein S10 | Harva (1–4%) | Esineb 1 haiguses |
| RPS15Aribosomal protein S15a | Harva (1–4%) | Esineb 1 haiguses |
| RPS17ribosomal protein S17 | Harva (1–4%) | Esineb 1 haiguses |
| RPS19ribosomal protein S19 | Harva (1–4%) | Esineb 1 haiguses |
| RPS20ribosomal protein S20 | Harva (1–4%) | Esineb 1 haiguses |
| RPS24ribosomal protein S24 | Harva (1–4%) | Esineb 1 haiguses |
| RPS26ribosomal protein S26 | Harva (1–4%) | Esineb 1 haiguses |
| RPS27ribosomal protein S27 | Harva (1–4%) | Esineb 1 haiguses |
| RPS28ribosomal protein S28 | Harva (1–4%) | Esineb 1 haiguses |
| RPS29ribosomal protein S29 | Harva (1–4%) | Esineb 1 haiguses |
| RPS7ribosomal protein S7 | Harva (1–4%) | Esineb 1 haiguses |
| TSR2TSR2 ribosome maturation factor | Harva (1–4%) | Esineb 1 haiguses |
| BEST1bestrophin 1 | Pole registreeritud | Esineb 1 haiguses |
| BFSP2beaded filament structural protein 2 | Pole registreeritud | Esineb 1 haiguses |
| COL4A3collagen type IV alpha 3 chain | Pole registreeritud | Esineb 1 haiguses |
| COL4A4collagen type IV alpha 4 chain | Pole registreeritud | Esineb 1 haiguses |
| COL4A5collagen type IV alpha 5 chain | Pole registreeritud | Esineb 1 haiguses |
| CRYAAcrystallin alpha A | Pole registreeritud | Esineb 1 haiguses |
| CRYBA1crystallin beta A1 | Pole registreeritud | Esineb 1 haiguses |
| CRYBA2crystallin beta A2 | Pole registreeritud | Esineb 1 haiguses |
| CRYBB1crystallin beta B1 | Pole registreeritud | Esineb 1 haiguses |
| CRYBB2crystallin beta B2 | Pole registreeritud | Esineb 1 haiguses |
| CRYBB3crystallin beta B3 | Pole registreeritud | Esineb 1 haiguses |
| CRYGCcrystallin gamma C | Pole registreeritud | Esineb 1 haiguses |
| CRYGDcrystallin gamma D | Pole registreeritud | Esineb 1 haiguses |
| CTDP1CTD phosphatase 1 | Pole registreeritud | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Pole registreeritud | Esineb 1 haiguses |
| EPHA2EPH receptor A2 | Pole registreeritud | Esineb 1 haiguses |
| ETFAelectron transfer flavoprotein subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| ETFBelectron transfer flavoprotein subunit beta | Pole registreeritud | Esineb 1 haiguses |
| ETFDHelectron transfer flavoprotein dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| GCNT2glucosaminyl (N-acetyl) transferase 2 (I blood group) | Pole registreeritud | Esineb 1 haiguses |
| KIF1Bkinesin family member 1B | Pole registreeritud | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| MAXMYC associated transcriptional regulator X | Pole registreeritud | Esineb 1 haiguses |
| MIR204microRNA 204 | Pole registreeritud | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Pole registreeritud | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Pole registreeritud | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Pole registreeritud | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Pole registreeritud | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Pole registreeritud | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Pole registreeritud | Esineb 1 haiguses |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Pole registreeritud | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Pole registreeritud | Esineb 1 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Pole registreeritud | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Pole registreeritud | Esineb 1 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Pole registreeritud | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Pole registreeritud | Esineb 1 haiguses |
| NHSNHS actin remodeling regulator | Pole registreeritud | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Pole registreeritud | Esineb 1 haiguses |
| PAX6paired box 6 | Pole registreeritud | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Pole registreeritud | Esineb 1 haiguses |
| RAB18RAB18, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| RETret proto-oncogene | Pole registreeritud | Esineb 1 haiguses |
| SIPA1L3signal induced proliferation associated 1 like 3 | Pole registreeritud | Esineb 1 haiguses |
| TMEM127transmembrane protein 127 | Pole registreeritud | Esineb 1 haiguses |
| VHLvon Hippel-Lindau tumor suppressor | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast