Trait
CNS demyelination
A loss of myelin from nerve fibers in the central nervous system.
Summary
- Also called
- Demyelination in central white matter
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test32 genes linked to CNS demyelination
Changes in these genes cause rare conditions in which CNS demyelination 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Always | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Always | In 1 condition |
| PPFIBP1PPFIB scaffold protein 1 | Always | In 1 condition |
| PRF1perforin 1 | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| TEFMtranscription elongation factor, mitochondrial | Always | In 1 condition |
| TNRtenascin R | Always | In 1 condition |
| TREX1three prime repair exonuclease 1 | Always | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Very often (80–99%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Often (30–79%) | In 2 conditions |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 1 condition |
| GALCgalactosylceramidase | Often (30–79%) | In 2 conditions |
| GLSglutaminase | Often (30–79%) | In 1 condition |
| MRPL39mitochondrial ribosomal protein L39 | Often (30–79%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Sometimes (5–29%) | In 1 condition |
| INSRinsulin receptor | Sometimes (5–29%) | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| ACOX1acyl-CoA oxidase 1 | Not recorded | In 1 condition |
| ASPAaspartoacylase | Not recorded | In 1 condition |
| CSF1Rcolony stimulating factor 1 receptor | Not recorded | In 1 condition |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Not recorded | In 1 condition |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Not recorded | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Not recorded | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Not recorded | In 1 condition |
| MAT1Amethionine adenosyltransferase 1A | Not recorded | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Not recorded | In 1 condition |
| PDYNprodynorphin | Not recorded | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Not recorded | In 1 condition |
| PSAPprosaposin | Not recorded | In 2 conditions |
| SUMF1sulfatase modifying factor 1 | Not recorded | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | 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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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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