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Trait

Segmental peripheral demyelination

A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.

HPO HP:0007107

Summary

Body system
Abnormality of the nervous system

2 condition reports read genes linked to this trait

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4 genes linked to Segmental peripheral demyelination

Changes in these genes cause rare conditions in which Segmental 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.

GeneHow often it is seenConditions
GDAP1ganglioside induced differentiation associated protein 1AlwaysIn 1 condition
DNM2dynamin 2Sometimes (5–29%)In 1 condition
GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1Not recordedIn 1 condition
SH3TC2SH3 domain and tetratricopeptide repeats 2Not 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

Peripheral demyelination

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 2026.10.18-8b139e39.

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