Trait
Peripheral demyelination
A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
Summary
- Also called
- Demyelination
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test35 genes linked to Peripheral demyelination
Changes in these genes cause rare conditions in which Peripheral 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 |
|---|---|---|
| DNM1Ldynamin 1L | Always | In 1 condition |
| EGR2early growth response 2 | Always | In 1 condition |
| GDAP1ganglioside induced differentiation associated protein 1 | Always | In 3 conditions |
| GNB4G protein subunit beta 4 | Always | In 1 condition |
| MPZmyelin protein zero | Always | In 3 conditions |
| PMP2peripheral myelin protein 2 | Always | In 1 condition |
| PMP22peripheral myelin protein 22 | Always | In 1 condition |
| PRXperiaxin | Always | In 2 conditions |
| PSAPprosaposin | Always | In 1 condition |
| HK1hexokinase 1 | Very often (80–99%) | In 1 condition |
| PLP1proteolipid protein 1 | Very often (80–99%) | In 1 condition |
| KIF1Ckinesin family member 1C | Often (30–79%) | In 1 condition |
| FA2Hfatty acid 2-hydroxylase | Sometimes (5–29%) | In 1 condition |
| GALCgalactosylceramidase | Sometimes (5–29%) | In 2 conditions |
| MMACHCmetabolism of cobalamin associated C | Sometimes (5–29%) | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Sometimes (5–29%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ABCA1ATP binding cassette subfamily A member 1 | Not recorded | In 1 condition |
| ARHGEF10Rho guanine nucleotide exchange factor 10 | Not recorded | In 1 condition |
| ARSAarylsulfatase A | Not recorded | In 1 condition |
| COQ7coenzyme Q7, hydroxylase | Not recorded | In 1 condition |
| CTDP1CTD phosphatase 1 | Not recorded | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Not recorded | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Not recorded | In 1 condition |
| MAT1Amethionine adenosyltransferase 1A | Not recorded | In 1 condition |
| MOCS1molybdenum cofactor synthesis 1 | Not recorded | In 1 condition |
| MOCS2molybdenum cofactor synthesis 2 | Not recorded | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Not recorded | In 1 condition |
| SOX10SRY-box transcription factor 10 | Not recorded | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Not recorded | In 1 condition |
| SURF1SURF1 cytochrome c oxidase assembly factor | Not recorded | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Not recorded | In 1 condition |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Not recorded | In 1 condition |
| UBTFupstream binding transcription factor | 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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