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Tunnus
Drooping of both upper eyelids
Kliiniline nimetus: Bilateral ptosis
Kokkuvõte
- Kehasüsteem
- Abnormality of the eye
Drooping of both upper eyelidsHP:0001488
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Read the genes linked to Drooping of both upper eyelids, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test74 geeni on seotud tunnusega Drooping of both upper eyelids
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Drooping of both upper eyelids. 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 2 haiguses |
| DSTdystonin | Alati | Esineb 1 haiguses |
| GUK1guanylate kinase 1 | Alati | Esineb 1 haiguses |
| IDUAalpha-L-iduronidase | Alati | Esineb 1 haiguses |
| ISCUiron-sulfur cluster assembly enzyme | Alati | Esineb 1 haiguses |
| JPH1junctophilin 1 | Alati | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Alati | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Alati | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Alati | Esineb 1 haiguses |
| NHEJ1non-homologous end joining factor 1 | Alati | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Alati | Esineb 1 haiguses |
| PAX6paired box 6 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Alati | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 2 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alati | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Alati | Esineb 1 haiguses |
| WT1WT1 transcription factor | Alati | Esineb 1 haiguses |
| ZNF407zinc finger protein 407 | Alati | Esineb 1 haiguses |
| DBHdopamine beta-hydroxylase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GSNgelsolin | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Sageli (30–79%) | Esineb 2 haiguses |
| AEBP1AE binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ATXN7L3ataxin 7 like 3 | Sageli (30–79%) | Esineb 1 haiguses |
| AUTS2activator of transcription and developmental regulator AUTS2 | Sageli (30–79%) | Esineb 1 haiguses |
| CERT1ceramide transporter 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Sageli (30–79%) | Esineb 1 haiguses |
| COL13A1collagen type XIII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Sageli (30–79%) | Esineb 1 haiguses |
| DGUOKdeoxyguanosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| GCKglucokinase | Sageli (30–79%) | Esineb 1 haiguses |
| INSinsulin | Sageli (30–79%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sageli (30–79%) | Esineb 3 haiguses |
| LAMB2laminin subunit beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| ODC1ornithine decarboxylase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 34 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PACS1phosphofurin acidic cluster sorting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDX1pancreatic and duodenal homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Sageli (30–79%) | Esineb 2 haiguses |
| RNASEH1ribonuclease H1 | Sageli (30–79%) | Esineb 2 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sageli (30–79%) | Esineb 1 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| STAC3SH3 and cysteine rich domain 3 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT3signal transducer and activator of transcription 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB3tubulin beta 3 class III | Sageli (30–79%) | Esineb 2 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42BPBCDC42 binding protein kinase beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM1Alysine demethylase 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOVA2NOVA alternative splicing regulator 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDZD8PDZ domain containing 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLECplectin | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLRMTRNA polymerase mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBA1Atubulin alpha 1a | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBB2Btubulin beta 2B class IIb | Mõnikord (5–29%) | Esineb 1 haiguses |
| TYMSthymidylate synthetase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNAfilamin A | Harva (1–4%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Harva (1–4%) | Esineb 1 haiguses |
| PAHphenylalanine hydroxylase | Harva (1–4%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Harva (1–4%) | Esineb 1 haiguses |
| KIF21Akinesin family member 21A | Pole registreeritud | Esineb 1 haiguses |
| PHOX2Apaired like homeobox 2A | 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.
Kitsamad tunnused
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.
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Logi sisseKüsiAlustaalates 449 $
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast