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Tunnus
Weakness of muscles controlling eye movement
Kliiniline nimetus: Ophthalmoparesis
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
Kokkuvõte
- Teised nimetused
- Extraocular muscle palsy, Extraocular muscle paralysis, Weakness of extraocular eye movement
- Kehasüsteem
- Abnormality of the eye
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Read the genes linked to Weakness of muscles controlling eye movement, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test80 geeni on seotud tunnusega Weakness of muscles controlling eye movement
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Weakness of muscles controlling eye movement. 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alati | Esineb 3 haiguses |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Alati | Esineb 2 haiguses |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alati | Esineb 1 haiguses |
| COX15cytochrome c oxidase assembly factor COX15 | Alati | Esineb 1 haiguses |
| COX6B1cytochrome c oxidase subunit 6B1 | Alati | Esineb 1 haiguses |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Alati | Esineb 1 haiguses |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Alati | Esineb 2 haiguses |
| ISCUiron-sulfur cluster assembly enzyme | Alati | Esineb 1 haiguses |
| JPH1junctophilin 1 | Alati | Esineb 1 haiguses |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Alati | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Alati | Esineb 1 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Alati | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Alati | Esineb 6 haiguses |
| SCO1synthesis of cytochrome C oxidase 1 | Alati | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
| SLC5A7solute carrier family 5 member 7 | Alati | Esineb 1 haiguses |
| SURF1SURF1 cytochrome c oxidase assembly factor | Alati | Esineb 1 haiguses |
| TACO1translational activator of cytochrome c oxidase I | Alati | Esineb 1 haiguses |
| TEFMtranscription elongation factor, mitochondrial | Alati | Esineb 1 haiguses |
| TUBA4Atubulin alpha 4a | Alati | Esineb 1 haiguses |
| TYMPthymidine phosphorylase | Alati | Esineb 2 haiguses |
| ABCD3ATP binding cassette subfamily D member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GIPC1GIPC PDZ domain containing family member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NOTCH2NLCnotch 2 N-terminal like C | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLECplectin | Väga sageli (80–99%) | Esineb 1 haiguses |
| RILPL1Rab interacting lysosomal protein like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATN1atrophin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATXN7ataxin 7 | 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 2 haiguses |
| DNM2dynamin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GUK1guanylate kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Sageli (30–79%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LIG3DNA ligase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 40 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sageli (30–79%) | Esineb 2 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sageli (30–79%) | Esineb 1 haiguses |
| MTMR14myotubularin related protein 14 | Sageli (30–79%) | Esineb 1 haiguses |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POLG2DNA polymerase gamma 2, accessory subunit | Sageli (30–79%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sageli (30–79%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A4solute carrier family 25 member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Sageli (30–79%) | Esineb 3 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN1ataxin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN2ataxin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BIN1bridging integrator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNA2DNA replication helicase/nuclease 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOK7docking protein 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GSNgelsolin | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL40kelch like family member 40 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNASEH1ribonuclease H1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Mõnikord (5–29%) | Esineb 3 haiguses |
| SPEGstriated muscle enriched protein kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTNtitin | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Harva (1–4%) | Esineb 1 haiguses |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Harva (1–4%) | Esineb 1 haiguses |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Harva (1–4%) | Esineb 1 haiguses |
| ACTN2actinin alpha 2 | Pole registreeritud | Esineb 1 haiguses |
| CHATcholine O-acetyltransferase | Pole registreeritud | Esineb 1 haiguses |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Pole registreeritud | Esineb 2 haiguses |
| MAPTmicrotubule associated protein tau | Pole registreeritud | Esineb 1 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | 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.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast