Trait

Peripapillary atrophy

Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.

Body system: Abnormality of the eye

This page as data

Add .json to the page's address, or ask for application/json, to read it as JSON.

library(jsonlite)

url <- "https://dantelabs.com/traits/peripapillary-atrophy.json"
page <- fromJSON(url)
page$trait$name

Open the JSON

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14 genes linked to Peripapillary atrophy

Changes in these genes cause rare conditions in which Peripapillary atrophy 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
COL18A1collagen type XVIII alpha 1 chain	Always	In 1 condition
KLHL7kelch like family member 7	Always	In 1 condition
TUBTUB bipartite transcription factor	Always	In 1 condition
CNGA3cyclic nucleotide gated channel subunit alpha 3	Often (30–79%)	In 1 condition
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	Often (30–79%)	In 1 condition
TULP1TUB like protein 1	Often (30–79%)	In 1 condition
ZNF408zinc finger protein 408	Often (30–79%)	In 1 condition
B3GALT6beta-1,3-galactosyltransferase 6	Sometimes (5–29%)	In 1 condition
C1QTNF5C1q and TNF related 5	Sometimes (5–29%)	In 1 condition
HGSNATheparan-alpha-glucosaminide N-acetyltransferase	Sometimes (5–29%)	In 1 condition
TUBB4Btubulin beta 4B class IVb	Sometimes (5–29%)	In 1 condition
COL4A1collagen type IV alpha 1 chain	Rarely (1–4%)	In 1 condition
MMP19matrix metallopeptidase 19	Rarely (1–4%)	In 1 condition
SCAPERS-phase cyclin A associated protein in the ER	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.

Broader traits

Diffuse 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 2026.10.17-8666dff2.

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