Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Tunnus
Leukoencephalopathy
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
LeukoencephalopathyHP:0002352
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Leukoencephalopathy, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test104 geeni on seotud tunnusega Leukoencephalopathy
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Leukoencephalopathy. 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 |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| COL4A1collagen type IV alpha 1 chain | Alati | Esineb 1 haiguses |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Alati | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Alati | Esineb 1 haiguses |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Alati | Esineb 1 haiguses |
| EIF2B3eukaryotic translation initiation factor 2B subunit gamma | Alati | Esineb 1 haiguses |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Alati | Esineb 1 haiguses |
| HTRA1HtrA serine peptidase 1 | Alati | Esineb 1 haiguses |
| INTS11integrator complex subunit 11 | Alati | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Alati | Esineb 1 haiguses |
| NFU1NFU1 iron-sulfur cluster scaffold | Alati | Esineb 2 haiguses |
| NOTCH3notch receptor 3 | Alati | Esineb 2 haiguses |
| POT1protection of telomeres 1 | Alati | Esineb 1 haiguses |
| RRP12ribosomal RNA processing 12 homolog | Alati | Esineb 1 haiguses |
| SCP2sterol carrier protein 2 | Alati | Esineb 1 haiguses |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Alati | Esineb 1 haiguses |
| SNF8SNF8 subunit of ESCRT-II | Alati | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Alati | Esineb 2 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alati | Esineb 2 haiguses |
| YME1L1YME1 like 1 ATPase | Alati | Esineb 1 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LIG3DNA ligase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 64 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NOTCH2NLCnotch 2 N-terminal like C | Väga sageli (80–99%) | Esineb 2 haiguses |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Väga sageli (80–99%) | Esineb 2 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Väga sageli (80–99%) | Esineb 2 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNORD118small nucleolar RNA, C/D box 118 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM126Btransmembrane protein 126B | Väga sageli (80–99%) | Esineb 1 haiguses |
| TYMPthymidine phosphorylase | Väga sageli (80–99%) | Esineb 2 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 2 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| PPFIBP1PPFIB scaffold protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Sageli (30–79%) | Esineb 1 haiguses |
| WARS1tryptophanyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAXENAD(P)HX epimerase | Mõnikord (5–29%) | Esineb 2 haiguses |
| RNASET2ribonuclease T2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC5tetratricopeptide repeat domain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COA7cytochrome c oxidase assembly factor 7 | Harva (1–4%) | Esineb 1 haiguses |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Harva (1–4%) | Esineb 1 haiguses |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Pole registreeritud | Esineb 1 haiguses |
| CLCN2chloride voltage-gated channel 2 | Pole registreeritud | Esineb 1 haiguses |
| CLN6CLN6 transmembrane ER protein | Pole registreeritud | Esineb 1 haiguses |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Pole registreeritud | Esineb 1 haiguses |
| COX15cytochrome c oxidase assembly factor COX15 | Pole registreeritud | Esineb 1 haiguses |
| COX6B1cytochrome c oxidase subunit 6B1 | Pole registreeritud | Esineb 1 haiguses |
| CSF1Rcolony stimulating factor 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| DARS1aspartyl-tRNA synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Pole registreeritud | Esineb 1 haiguses |
| LAMB1laminin subunit beta 1 | Pole registreeritud | Esineb 1 haiguses |
| MRPS22mitochondrial ribosomal protein S22 | Pole registreeritud | Esineb 1 haiguses |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Pole registreeritud | Esineb 1 haiguses |
| NFE2L2NFE2 like bZIP transcription factor 2 | Pole registreeritud | Esineb 1 haiguses |
| PMPCBpeptidase, mitochondrial processing subunit beta | Pole registreeritud | Esineb 1 haiguses |
| RPIAribose 5-phosphate isomerase A | Pole registreeritud | Esineb 1 haiguses |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Pole registreeritud | Esineb 1 haiguses |
| SCO1synthesis of cytochrome C oxidase 1 | Pole registreeritud | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Pole registreeritud | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Pole registreeritud | Esineb 1 haiguses |
| SURF1SURF1 cytochrome c oxidase assembly factor | Pole registreeritud | Esineb 1 haiguses |
| TACO1translational activator of cytochrome c oxidase I | Pole registreeritud | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | Pole registreeritud | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Pole registreeritud | Esineb 1 haiguses |
| TYROBPtransmembrane immune signaling adaptor TYROBP | 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