Požymis
Weakness of muscles controlling eye movement
Klinikinis pavadinimas: Ophthalmoparesis
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
Santrauka
- Taip pat vadinama
- Extraocular muscle palsy, Extraocular muscle paralysis, Weakness of extraocular eye movement
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Weakness of muscles controlling eye movement, and the rest of your genome, with one test.
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Įsigyti savo Genome Test80 genų susiję su Weakness of muscles controlling eye movement
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Weakness of muscles controlling eye movement. 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 3 ligose |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Visada | 2 ligose |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Visada | 1 ligoje |
| COX15cytochrome c oxidase assembly factor COX15 | Visada | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Visada | 1 ligoje |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Visada | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Visada | 2 ligose |
| ISCUiron-sulfur cluster assembly enzyme | Visada | 1 ligoje |
| JPH1junctophilin 1 | Visada | 1 ligoje |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Visada | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Visada | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Visada | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Visada | 6 ligose |
| SCO1synthesis of cytochrome C oxidase 1 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SLC5A7solute carrier family 5 member 7 | Visada | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Visada | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Visada | 1 ligoje |
| TEFMtranscription elongation factor, mitochondrial | Visada | 1 ligoje |
| TUBA4Atubulin alpha 4a | Visada | 1 ligoje |
| TYMPthymidine phosphorylase | Visada | 2 ligose |
| ABCD3ATP binding cassette subfamily D member 3 | Labai dažnai (80–99%) | 1 ligoje |
| GIPC1GIPC PDZ domain containing family member 1 | Labai dažnai (80–99%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Labai dažnai (80–99%) | 2 ligose |
| NOTCH2NLCnotch 2 N-terminal like C | Labai dažnai (80–99%) | 1 ligoje |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Labai dažnai (80–99%) | 1 ligoje |
| PLECplectin | Labai dažnai (80–99%) | 1 ligoje |
| RILPL1Rab interacting lysosomal protein like 1 | Labai dažnai (80–99%) | 1 ligoje |
| ATN1atrophin 1 | Dažnai (30–79%) | 1 ligoje |
| ATXN7ataxin 7 | Dažnai (30–79%) | 1 ligoje |
| COL13A1collagen type XIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Dažnai (30–79%) | 2 ligose |
| DNM2dynamin 2 | Dažnai (30–79%) | 1 ligoje |
| GUK1guanylate kinase 1 | Dažnai (30–79%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Dažnai (30–79%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Dažnai (30–79%) | 1 ligoje |
| LAMB2laminin subunit beta 2 | Dažnai (30–79%) | 1 ligoje |
| LIG3DNA ligase 3 | Dažnai (30–79%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 40 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 2 ligose |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Dažnai (30–79%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 1 ligoje |
| MTMR14myotubularin related protein 14 | Dažnai (30–79%) | 1 ligoje |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| POLG2DNA polymerase gamma 2, accessory subunit | Dažnai (30–79%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Dažnai (30–79%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Dažnai (30–79%) | 2 ligose |
| SLC25A4solute carrier family 25 member 4 | Dažnai (30–79%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Dažnai (30–79%) | 3 ligose |
| UCHL1ubiquitin C-terminal hydrolase L1 | Dažnai (30–79%) | 1 ligoje |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Kartais (5–29%) | 1 ligoje |
| ATXN1ataxin 1 | Kartais (5–29%) | 1 ligoje |
| ATXN2ataxin 2 | Kartais (5–29%) | 1 ligoje |
| BIN1bridging integrator 1 | Kartais (5–29%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Kartais (5–29%) | 1 ligoje |
| DOK7docking protein 7 | Kartais (5–29%) | 1 ligoje |
| GSNgelsolin | Kartais (5–29%) | 1 ligoje |
| KLHL40kelch like family member 40 | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 3 ligose |
| SPEGstriated muscle enriched protein kinase | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Retai (1–4 %) | 1 ligoje |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Retai (1–4 %) | 1 ligoje |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Retai (1–4 %) | 1 ligoje |
| ACTN2actinin alpha 2 | Neužfiksuota | 1 ligoje |
| CHATcholine O-acetyltransferase | Neužfiksuota | 1 ligoje |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Neužfiksuota | 2 ligose |
| MAPTmicrotubule associated protein tau | Neužfiksuota | 1 ligoje |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | 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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Iš kur tai žinoma
- 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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