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Trait

Subependymal cysts

Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.

HPO HP:0002416

Summary

Also called
Subependymal germinolytic cyst, Subependymal pseudocyst
Body system
Abnormality of the nervous system

10 genes linked to Subependymal cysts

Changes in these genes cause rare conditions in which Subependymal cysts 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
RNU5B-1RNA, U5B small nuclear 1AlwaysIn 1 condition
TXN2thioredoxin 2Very often (80–99%)In 2 conditions
GLULglutamate-ammonia ligaseOften (30–79%)In 1 condition
RRAGCRas related GTP binding COften (30–79%)In 1 condition
TUBGCP2tubulin gamma complex component 2Often (30–79%)In 1 condition
AHDC1AT-hook DNA binding motif containing 1Sometimes (5–29%)In 1 condition
PLCH1phospholipase C eta 1Sometimes (5–29%)In 1 condition
D2HGDHD-2-hydroxyglutarate dehydrogenaseNot recordedIn 1 condition
PDHXpyruvate dehydrogenase complex component XNot recordedIn 1 condition
PEX1peroxisomal biogenesis factor 1Not 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 cerebral ventricle morphologyIntracranial cystic lesion

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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