Træk
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.
Resumé
- Også kaldet
- Degeneration of white matter of brain
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test101 gener knyttet til Leukodystrophy
Ændringer i disse gener forårsager sjældne tilstande, hvor Leukodystrophy ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACER3alkaline ceramidase 3 | Altid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altid | I 1 tilstand |
| EXOSC5exosome component 5 | Altid | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Altid | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Altid | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Altid | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Altid | I 2 tilstande |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Altid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Altid | I 2 tilstande |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Altid | I 2 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Altid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Altid | I 2 tilstande |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Altid | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Altid | I 1 tilstand |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 61 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Meget ofte (80–99 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Meget ofte (80–99 %) | I 1 tilstand |
| ABAT4-aminobutyrate aminotransferase | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 2 tilstande |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 3 tilstande |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 2 tilstande |
| FBP2fructose-bisphosphatase 2 | Ofte (30–79 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 2 tilstande |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 2 tilstande |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Ofte (30–79 %) | I 2 tilstande |
| LSM11LSM11, U7 small nuclear RNA associated | Ofte (30–79 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 3 tilstande |
| PSAPprosaposin | Ofte (30–79 %) | I 3 tilstande |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Ofte (30–79 %) | I 2 tilstande |
| RNASEH2Bribonuclease H2 subunit B | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ofte (30–79 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC35B2solute carrier family 35 member B2 | Ofte (30–79 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| C1Rcomplement C1r | Nogle gange (5–29 %) | I 1 tilstand |
| C1Scomplement C1s | Nogle gange (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| LIASlipoic acid synthetase | Nogle gange (5–29 %) | I 1 tilstand |
| SP110SP110 nuclear body protein | Nogle gange (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registreret | I 1 tilstand |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Ikke registreret | I 1 tilstand |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Ikke registreret | I 1 tilstand |
| BOLA3bolA family member 3 | Ikke registreret | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registreret | I 1 tilstand |
| EDNRBendothelin receptor type B | Ikke registreret | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registreret | I 1 tilstand |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Ikke registreret | I 1 tilstand |
| PCpyruvate carboxylase | Ikke registreret | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registreret | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Ikke registreret | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ikke registreret | I 1 tilstand |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Ikke registreret | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ikke registreret | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Ikke registreret | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ikke registreret | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registreret | I 1 tilstand |
| SNORD118small nucleolar RNA, C/D box 118 | Ikke registreret | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Ikke registreret | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Ikke registreret | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger