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Trait

Peripheral hypomyelination

Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.

HPO HP:0007182

Summary

Body system
Abnormality of the nervous system

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

10 genes linked to Peripheral hypomyelination

Changes in these genes cause rare conditions in which Peripheral hypomyelination 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.

GeneHow often it is seenConditions
ADCY6adenylate cyclase 6AlwaysIn 1 condition
DSTdystoninAlwaysIn 1 condition
CTDP1CTD phosphatase 1Very often (80–99%)In 2 conditions
DHX16DEAH-box helicase 16Sometimes (5–29%)In 1 condition
KCNJ10potassium inwardly rectifying channel subfamily J member 10Sometimes (5–29%)In 2 conditions
EGR2early growth response 2Not recordedIn 1 condition
FGD4FYVE, RhoGEF and PH domain containing 4Not recordedIn 1 condition
FIG4FIG4 phosphoinositide 5-phosphataseNot recordedIn 1 condition
HK1hexokinase 1Not recordedIn 1 condition
SOX10SRY-box transcription factor 10Not recordedIn 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.

Broader traits

Abnormal peripheral myelination

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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