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Trait
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.
Summary
- Also called
- Degeneration of white matter of brain
- Body system
- Abnormality of the nervous system
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page <- fromJSON(url)
page$trait$nameLeukodystrophyHP:0002415
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Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Other Inherited LeukodystrophiesReads 33 of these genesACER3ATP11AEPRS1HIKESHIHSPD1NADK2About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 16 of these genesATP11AEPRS1HIKESHIHSPD1POLR3BTUBB4AAbout this report →
- Aicardi-Goutieres SyndromeReads 8 of these genesSAMHD1ADARIFIH1RNASEH2ARNASEH2BRNASEH2CAbout this report →
- Primary Mitochondrial DiseaseReads 30 of these genesCOX6B1FBXL4NUBPLFOXRED1NDUFA1NDUFA11About this report →
Show 43 more reports
- Leigh SyndromeReads 19 of these genesFBXL4NUBPLFOXRED1MT-ND1MT-ND3NDUFA1About this report →
- Metachromatic LeukodystrophyReads 2 of these genesARSAPSAPAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 8 of these genesSAMHD1ADARIFIH1RNASEH2ARNASEH2BRNASEH2CAbout this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI)Reads 1 of these genesSP110About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 3 of these genesPEX10PEX1PEX16About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Other Inborn Errors of ImmunityReads 10 of these genesSAMHD1ADARIFIH1RNASEH2ARNASEH2BRNASEH2CAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 2 of these genesLIASPCAbout this report →
- Type I InterferonopathiesReads 2 of these genesIFIH1TREX1About this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Moyamoya DiseaseReads 1 of these genesSAMHD1About this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesALG8About this report →
- Treacher Collins SyndromeReads 1 of these genesPOLR1CAbout this report →
- Ehlers-Danlos SyndromeReads 2 of these genesC1RC1SAbout this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesACOX1About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Waardenburg SyndromeReads 1 of these genesEDNRBAbout this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesGLRX5About this report →
- Malignant Endocrine NeoplasmReads 1 of these genesSDHBAbout this report →
- Osteogenesis ImperfectaReads 2 of these genesIFIH1POLR3AAbout this report →
- Kidney CancerReads 1 of these genesSDHBAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesSDHBAbout this report →
- Hearing Loss and DeafnessReads 3 of these genesATP11AKARS1PNPT1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG8About this report →
- Urinary and Renal System TumourReads 1 of these genesSDHBAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesMT-ND1About this report →
- Lysosomal Storage DiseaseReads 2 of these genesARSAPSAPAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesGJC2About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesHSPD1GJC2About this report →
- Inherited Complement and Properdin DeficienciesReads 1 of these genesC1SAbout this report →
- Autoimmune DiseaseReads 1 of these genesTREX1About this report →
- Dyskeratosis CongenitaReads 1 of these genesCTC1About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesDAG1ALG8About this report →
- VitreoretinopathyReads 1 of these genesCTC1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesNDUFB11About this report →
- Congenital Muscular DystrophiesReads 1 of these genesDAG1About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesDAG1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesTUBB4AAbout this report →
- DNA Repair DiseaseReads 1 of these genesERCC6About this report →
- Intellectual DisabilityReads 2 of these genesTAOK1SLC16A2About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesPOLR3BAbout this report →
- Epilepsy (Full Panel)Reads 1 of these genesABATAbout this report →
Read the genes linked to Leukodystrophy, and the rest of your genome, with one test.
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Get my Genome Test101 genes linked to Leukodystrophy
Changes in these genes cause rare conditions in which Leukodystrophy is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ACER3alkaline ceramidase 3 | Always | In 1 condition |
| ATP11AATPase phospholipid transporting 11A | Always | In 1 condition |
| COX6B1cytochrome c oxidase subunit 6B1 | Always | In 1 condition |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Always | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Always | In 1 condition |
| EXOSC5exosome component 5 | Always | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Always | In 1 condition |
| HIKESHIheat shock protein nuclear import factor hikeshi | Always | In 1 condition |
| HSPD1heat shock protein family D (Hsp60) member 1 | Always | In 1 condition |
| ISCA1iron-sulfur cluster assembly 1 | Always | In 2 conditions |
| KARS1lysyl-tRNA synthetase 1 | Always | In 1 condition |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Always | In 1 condition |
| NADK2NAD kinase 2, mitochondrial | Always | In 2 conditions |
| NOTCH3notch receptor 3 | Always | In 1 condition |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Always | In 2 conditions |
| PEX10peroxisomal biogenesis factor 10 | Always | In 1 condition |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| POLR3BRNA polymerase III subunit B | Always | In 2 conditions |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Always | In 1 condition |
| TUBB4Atubulin beta 4A class IVa | Always | In 1 condition |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Very often (80–99%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Very often (80–99%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Very often (80–99%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Very often (80–99%) | In 1 condition |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Very often (80–99%) | In 1 condition |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Very often (80–99%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Very often (80–99%) | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Very often (80–99%) | In 1 condition |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Very often (80–99%) | In 1 condition |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Very often (80–99%) | In 1 condition |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Very often (80–99%) | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Very often (80–99%) | In 1 condition |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Very often (80–99%) | In 1 condition |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Very often (80–99%) | In 1 condition |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Very often (80–99%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Very often (80–99%) | In 1 condition |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Very often (80–99%) | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Very often (80–99%) | In 2 conditions |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Very often (80–99%) | In 1 condition |
Show 61 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Very often (80–99%) | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Very often (80–99%) | In 2 conditions |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Very often (80–99%) | In 1 condition |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Very often (80–99%) | In 1 condition |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Very often (80–99%) | In 1 condition |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Very often (80–99%) | In 2 conditions |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Very often (80–99%) | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Very often (80–99%) | In 2 conditions |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Very often (80–99%) | In 1 condition |
| TMEM126Btransmembrane protein 126B | Very often (80–99%) | In 1 condition |
| ABAT4-aminobutyrate aminotransferase | Often (30–79%) | In 1 condition |
| ADARadenosine deaminase RNA specific | Often (30–79%) | In 2 conditions |
| ARSAarylsulfatase A | Often (30–79%) | In 3 conditions |
| DAG1dystroglycan 1 | Often (30–79%) | In 2 conditions |
| FBP2fructose-bisphosphatase 2 | Often (30–79%) | In 1 condition |
| GLRX5glutaredoxin 5 | Often (30–79%) | In 2 conditions |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| IBA57iron-sulfur cluster assembly factor IBA57 | Often (30–79%) | In 2 conditions |
| IFIH1interferon induced with helicase C domain 1 | Often (30–79%) | In 1 condition |
| ISCA2iron-sulfur cluster assembly 2 | Often (30–79%) | In 2 conditions |
| LSM11LSM11, U7 small nuclear RNA associated | Often (30–79%) | In 1 condition |
| NKX6-2NK6 homeobox 2 | Often (30–79%) | In 2 conditions |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 3 conditions |
| PSAPprosaposin | Often (30–79%) | In 3 conditions |
| REPS1RALBP1 associated Eps domain containing 1 | Often (30–79%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Often (30–79%) | In 2 conditions |
| RNASEH2Bribonuclease H2 subunit B | Often (30–79%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Often (30–79%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Often (30–79%) | In 1 condition |
| SLC35B2solute carrier family 35 member B2 | Often (30–79%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Often (30–79%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| C1Rcomplement C1r | Sometimes (5–29%) | In 1 condition |
| C1Scomplement C1s | Sometimes (5–29%) | In 1 condition |
| GTPBP3GTP binding protein 3, mitochondrial | Sometimes (5–29%) | In 1 condition |
| LIASlipoic acid synthetase | Sometimes (5–29%) | In 1 condition |
| SP110SP110 nuclear body protein | Sometimes (5–29%) | In 1 condition |
| TAOK1TAO kinase 1 | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ACOX1acyl-CoA oxidase 1 | Not recorded | In 1 condition |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Not recorded | In 1 condition |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Not recorded | In 1 condition |
| BOLA3bolA family member 3 | Not recorded | In 1 condition |
| CTC1CST telomere replication complex component 1 | Not recorded | In 1 condition |
| EDNRBendothelin receptor type B | Not recorded | In 1 condition |
| GJC2gap junction protein gamma 2 | Not recorded | In 1 condition |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Not recorded | In 1 condition |
| PCpyruvate carboxylase | Not recorded | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Not recorded | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Not recorded | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Not recorded | In 1 condition |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Not recorded | In 1 condition |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Not recorded | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Not recorded | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Not recorded | In 1 condition |
| RARS1arginyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| SLC16A2solute carrier family 16 member 2 | Not recorded | In 1 condition |
| SNORD118small nucleolar RNA, C/D box 118 | Not recorded | In 1 condition |
| TMEM106Btransmembrane protein 106B | Not recorded | In 1 condition |
| TMEM63Atransmembrane protein 63A | Not recorded | In 1 condition |
| TUFMTu translation elongation factor, mitochondrial | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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