Tunnus
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.
Kokkuvõte
- Teised nimetused
- Degeneration of white matter of brain
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Leukodystrophy, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test101 geeni on seotud tunnusega Leukodystrophy
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Leukodystrophy. 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Alati | Esineb 1 haiguses |
| ATP11AATPase phospholipid transporting 11A | Alati | Esineb 1 haiguses |
| COX6B1cytochrome c oxidase subunit 6B1 | Alati | Esineb 1 haiguses |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Alati | Esineb 1 haiguses |
| EXOSC5exosome component 5 | Alati | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Alati | Esineb 1 haiguses |
| HIKESHIheat shock protein nuclear import factor hikeshi | Alati | Esineb 1 haiguses |
| HSPD1heat shock protein family D (Hsp60) member 1 | Alati | Esineb 1 haiguses |
| ISCA1iron-sulfur cluster assembly 1 | Alati | Esineb 2 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Alati | Esineb 1 haiguses |
| NADK2NAD kinase 2, mitochondrial | Alati | Esineb 2 haiguses |
| NOTCH3notch receptor 3 | Alati | Esineb 1 haiguses |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Alati | Esineb 2 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Alati | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Alati | Esineb 1 haiguses |
| POLR3BRNA polymerase III subunit B | Alati | Esineb 2 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alati | Esineb 1 haiguses |
| TUBB4Atubulin beta 4A class IVa | Alati | Esineb 1 haiguses |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | 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 1 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 |
| 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 |
Näita veel 61 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| 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 2 haiguses |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | 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 |
| ABAT4-aminobutyrate aminotransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ADARadenosine deaminase RNA specific | Sageli (30–79%) | Esineb 2 haiguses |
| ARSAarylsulfatase A | Sageli (30–79%) | Esineb 3 haiguses |
| DAG1dystroglycan 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FBP2fructose-bisphosphatase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GLRX5glutaredoxin 5 | Sageli (30–79%) | Esineb 2 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Sageli (30–79%) | Esineb 2 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ISCA2iron-sulfur cluster assembly 2 | Sageli (30–79%) | Esineb 2 haiguses |
| LSM11LSM11, U7 small nuclear RNA associated | Sageli (30–79%) | Esineb 1 haiguses |
| NKX6-2NK6 homeobox 2 | Sageli (30–79%) | Esineb 2 haiguses |
| POLR3ARNA polymerase III subunit A | Sageli (30–79%) | Esineb 3 haiguses |
| PSAPprosaposin | Sageli (30–79%) | Esineb 3 haiguses |
| REPS1RALBP1 associated Eps domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Sageli (30–79%) | Esineb 2 haiguses |
| RNASEH2Bribonuclease H2 subunit B | Sageli (30–79%) | Esineb 1 haiguses |
| RNASEH2Cribonuclease H2 subunit C | Sageli (30–79%) | Esineb 1 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35B2solute carrier family 35 member B2 | Sageli (30–79%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| C1Rcomplement C1r | Mõnikord (5–29%) | Esineb 1 haiguses |
| C1Scomplement C1s | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTPBP3GTP binding protein 3, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| LIASlipoic acid synthetase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SP110SP110 nuclear body protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TAOK1TAO kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| ACOX1acyl-CoA oxidase 1 | Pole registreeritud | Esineb 1 haiguses |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Pole registreeritud | Esineb 1 haiguses |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Pole registreeritud | Esineb 1 haiguses |
| BOLA3bolA family member 3 | Pole registreeritud | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Pole registreeritud | Esineb 1 haiguses |
| EDNRBendothelin receptor type B | Pole registreeritud | Esineb 1 haiguses |
| GJC2gap junction protein gamma 2 | Pole registreeritud | Esineb 1 haiguses |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| PCpyruvate carboxylase | Pole registreeritud | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Pole registreeritud | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Pole registreeritud | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Pole registreeritud | Esineb 1 haiguses |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Pole registreeritud | Esineb 1 haiguses |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| POLR1CRNA polymerase I and III subunit C | Pole registreeritud | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Pole registreeritud | Esineb 1 haiguses |
| RARS1arginyl-tRNA synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Pole registreeritud | Esineb 1 haiguses |
| SNORD118small nucleolar RNA, C/D box 118 | Pole registreeritud | Esineb 1 haiguses |
| TMEM106Btransmembrane protein 106B | Pole registreeritud | Esineb 1 haiguses |
| TMEM63Atransmembrane protein 63A | Pole registreeritud | Esineb 1 haiguses |
| TUFMTu translation elongation factor, mitochondrial | 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.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast