Požymis
Leukoencephalopathy
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Santrauka
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Leukoencephalopathy. 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 |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Visada | 1 ligoje |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Visada | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Visada | 1 ligoje |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Visada | 1 ligoje |
| EIF2B3eukaryotic translation initiation factor 2B subunit gamma | Visada | 1 ligoje |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Visada | 1 ligoje |
| HTRA1HtrA serine peptidase 1 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Visada | 1 ligoje |
| NFU1NFU1 iron-sulfur cluster scaffold | Visada | 2 ligose |
| NOTCH3notch receptor 3 | Visada | 2 ligose |
| POT1protection of telomeres 1 | Visada | 1 ligoje |
| RRP12ribosomal RNA processing 12 homolog | Visada | 1 ligoje |
| SCP2sterol carrier protein 2 | Visada | 1 ligoje |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Visada | 1 ligoje |
| SNF8SNF8 subunit of ESCRT-II | Visada | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Visada | 2 ligose |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 2 ligose |
| YME1L1YME1 like 1 ATPase | Visada | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Labai dažnai (80–99%) | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| LIG3DNA ligase 3 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Labai dažnai (80–99%) | 2 ligose |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 64 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Labai dažnai (80–99%) | 1 ligoje |
| NOTCH2NLCnotch 2 N-terminal like C | Labai dažnai (80–99%) | 2 ligose |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Labai dažnai (80–99%) | 2 ligose |
| POLGDNA polymerase gamma, catalytic subunit | Labai dažnai (80–99%) | 2 ligose |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Labai dažnai (80–99%) | 1 ligoje |
| SNORD118small nucleolar RNA, C/D box 118 | Labai dažnai (80–99%) | 2 ligose |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM126Btransmembrane protein 126B | Labai dažnai (80–99%) | 1 ligoje |
| TYMPthymidine phosphorylase | Labai dažnai (80–99%) | 2 ligose |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 2 ligose |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 1 ligoje |
| PPFIBP1PPFIB scaffold protein 1 | Dažnai (30–79%) | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| WARS1tryptophanyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Kartais (5–29%) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Kartais (5–29%) | 1 ligoje |
| NAXENAD(P)HX epimerase | Kartais (5–29%) | 2 ligose |
| RNASET2ribonuclease T2 | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Kartais (5–29%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Kartais (5–29%) | 1 ligoje |
| COA7cytochrome c oxidase assembly factor 7 | Retai (1–4 %) | 1 ligoje |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Retai (1–4 %) | 1 ligoje |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Neužfiksuota | 1 ligoje |
| CLCN2chloride voltage-gated channel 2 | Neužfiksuota | 1 ligoje |
| CLN6CLN6 transmembrane ER protein | Neužfiksuota | 1 ligoje |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Neužfiksuota | 1 ligoje |
| COX15cytochrome c oxidase assembly factor COX15 | Neužfiksuota | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Neužfiksuota | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Neužfiksuota | 1 ligoje |
| DARS1aspartyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Neužfiksuota | 1 ligoje |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Neužfiksuota | 1 ligoje |
| LAMB1laminin subunit beta 1 | Neužfiksuota | 1 ligoje |
| MRPS22mitochondrial ribosomal protein S22 | Neužfiksuota | 1 ligoje |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Neužfiksuota | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Neužfiksuota | 1 ligoje |
| NFE2L2NFE2 like bZIP transcription factor 2 | Neužfiksuota | 1 ligoje |
| PMPCBpeptidase, mitochondrial processing subunit beta | Neužfiksuota | 1 ligoje |
| RPIAribose 5-phosphate isomerase A | Neužfiksuota | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Neužfiksuota | 1 ligoje |
| SCO1synthesis of cytochrome C oxidase 1 | Neužfiksuota | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Neužfiksuota | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Neužfiksuota | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Neužfiksuota | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Neužfiksuota | 1 ligoje |
| TMEM70transmembrane protein 70 | Neužfiksuota | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Neužfiksuota | 1 ligoje |
| TYROBPtransmembrane immune signaling adaptor TYROBP | 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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- 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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