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Trait

Temporal optic disc pallor

A pale yellow discoloration of the temporal (lateral) portion of the optic disc.

HPO HP:0012511

Summary

Body system
Abnormality of the eye

15 condition reports read genes linked to this trait

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.

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10 genes linked to Temporal optic disc pallor

Changes in these genes cause rare conditions in which Temporal optic disc pallor 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
CLN3CLN3 lysosomal/endosomal transmembrane protein, batteninAlwaysIn 1 condition
MECRmitochondrial trans-2-enoyl-CoA reductaseAlwaysIn 1 condition
DNM1Ldynamin 1LOften (30–79%)In 1 condition
MAGmyelin associated glycoproteinOften (30–79%)In 1 condition
OPA1OPA1 mitochondrial dynamin like GTPaseOften (30–79%)In 2 conditions
PPIBpeptidylprolyl isomerase BOften (30–79%)In 1 condition
CYP1B1cytochrome P450 family 1 subfamily B member 1Sometimes (5–29%)In 1 condition
EFEMP1EGF-like fibulin extracellular matrix protein 1Sometimes (5–29%)In 1 condition
MYOCmyocilinSometimes (5–29%)In 1 condition
SAMD7sterile alpha motif domain containing 7Sometimes (5–29%)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.

Broader traits

Optic disc pallor

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 2026.10.19-9814e911.

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