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Trait

Macular hypoplasia

Underdevelopment of the macula lutea.

HPO HP:0001104

Summary

Body system
Abnormality of the eye

16 genes linked to Macular hypoplasia

Changes in these genes cause rare conditions in which Macular hypoplasia 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
COL18A1collagen type XVIII alpha 1 chainAlwaysIn 1 condition
EBPEBP cholestenol delta-isomeraseAlwaysIn 1 condition
HMX1H6 family homeobox 1Often (30–79%)In 1 condition
LAMB2laminin subunit beta 2Often (30–79%)In 3 conditions
PAX6paired box 6Often (30–79%)In 1 condition
ATOH7atonal bHLH transcription factor 7Sometimes (5–29%)In 1 condition
DPYDdihydropyrimidine dehydrogenaseSometimes (5–29%)In 1 condition
EPG5ectopic P-granules 5 autophagy tethering factorSometimes (5–29%)In 1 condition
FZD4frizzled class receptor 4Sometimes (5–29%)In 1 condition
MAFMAF bZIP transcription factorSometimes (5–29%)In 1 condition
MSL2MSL complex subunit 2Sometimes (5–29%)In 1 condition
NDPnorrin cystine knot growth factor NDPSometimes (5–29%)In 1 condition
HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3Not recordedIn 1 condition
LYSTlysosomal trafficking regulatorNot recordedIn 1 condition
MPDZmultiple PDZ domain crumbs cell polarity complex componentNot recordedIn 1 condition
SLC45A2solute carrier family 45 member 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

Aplasia/Hypoplasia of the macula

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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