Požymis
Leukodystrophy
Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
Santrauka
- Taip pat vadinama
- Degeneration of white matter of brain
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test101 genas susijęs su Leukodystrophy
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Leukodystrophy. 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Visada | 1 ligoje |
| ATP11AATPase phospholipid transporting 11A | Visada | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Visada | 1 ligoje |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Visada | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Visada | 1 ligoje |
| EXOSC5exosome component 5 | Visada | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| HIKESHIheat shock protein nuclear import factor hikeshi | Visada | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Visada | 1 ligoje |
| ISCA1iron-sulfur cluster assembly 1 | Visada | 2 ligose |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Visada | 1 ligoje |
| NADK2NAD kinase 2, mitochondrial | Visada | 2 ligose |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Visada | 2 ligose |
| PEX10peroxisomal biogenesis factor 10 | Visada | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| POLR3BRNA polymerase III subunit B | Visada | 2 ligose |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Visada | 1 ligoje |
| TUBB4Atubulin beta 4A class IVa | Visada | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | 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%) | 1 ligoje |
| 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 |
| 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 |
Rodyti dar 61 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| 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%) | 2 ligose |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Labai dažnai (80–99%) | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | 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 |
| ABAT4-aminobutyrate aminotransferase | Dažnai (30–79%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Dažnai (30–79%) | 2 ligose |
| ARSAarylsulfatase A | Dažnai (30–79%) | 3 ligose |
| DAG1dystroglycan 1 | Dažnai (30–79%) | 2 ligose |
| FBP2fructose-bisphosphatase 2 | Dažnai (30–79%) | 1 ligoje |
| GLRX5glutaredoxin 5 | Dažnai (30–79%) | 2 ligose |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Dažnai (30–79%) | 2 ligose |
| IFIH1interferon induced with helicase C domain 1 | Dažnai (30–79%) | 1 ligoje |
| ISCA2iron-sulfur cluster assembly 2 | Dažnai (30–79%) | 2 ligose |
| LSM11LSM11, U7 small nuclear RNA associated | Dažnai (30–79%) | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Dažnai (30–79%) | 2 ligose |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 3 ligose |
| PSAPprosaposin | Dažnai (30–79%) | 3 ligose |
| REPS1RALBP1 associated Eps domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Dažnai (30–79%) | 2 ligose |
| RNASEH2Bribonuclease H2 subunit B | Dažnai (30–79%) | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Dažnai (30–79%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| SLC35B2solute carrier family 35 member B2 | Dažnai (30–79%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Dažnai (30–79%) | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
| C1Rcomplement C1r | Kartais (5–29%) | 1 ligoje |
| C1Scomplement C1s | Kartais (5–29%) | 1 ligoje |
| GTPBP3GTP binding protein 3, mitochondrial | Kartais (5–29%) | 1 ligoje |
| LIASlipoic acid synthetase | Kartais (5–29%) | 1 ligoje |
| SP110SP110 nuclear body protein | Kartais (5–29%) | 1 ligoje |
| TAOK1TAO kinase 1 | Kartais (5–29%) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Neužfiksuota | 1 ligoje |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Neužfiksuota | 1 ligoje |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Neužfiksuota | 1 ligoje |
| BOLA3bolA family member 3 | Neužfiksuota | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Neužfiksuota | 1 ligoje |
| EDNRBendothelin receptor type B | Neužfiksuota | 1 ligoje |
| GJC2gap junction protein gamma 2 | Neužfiksuota | 1 ligoje |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Neužfiksuota | 1 ligoje |
| PCpyruvate carboxylase | Neužfiksuota | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Neužfiksuota | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Neužfiksuota | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Neužfiksuota | 1 ligoje |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Neužfiksuota | 1 ligoje |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Neužfiksuota | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Neužfiksuota | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Neužfiksuota | 1 ligoje |
| RARS1arginyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Neužfiksuota | 1 ligoje |
| SNORD118small nucleolar RNA, C/D box 118 | Neužfiksuota | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Neužfiksuota | 1 ligoje |
| TMEM63Atransmembrane protein 63A | Neužfiksuota | 1 ligoje |
| TUFMTu translation elongation factor, mitochondrial | 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.
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