Trait

Cavity within brain

Clinical name: Porencephalic cyst

A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.

HPO HP:0002132

Body system: Abnormality of the nervous system

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32 genes linked to Cavity within brain

Changes in these genes cause rare conditions in which Cavity within brain 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
ESAMendothelial cell adhesion molecule	Always	In 1 condition
ADARadenosine deaminase RNA specific	Very often (80–99%)	In 1 condition
COL4A1collagen type IV alpha 1 chain	Very often (80–99%)	In 1 condition
IFIH1interferon induced with helicase C domain 1	Very often (80–99%)	In 1 condition
LSM11LSM11, U7 small nuclear RNA associated	Very often (80–99%)	In 1 condition
RNASEH2Aribonuclease H2 subunit A	Very often (80–99%)	In 1 condition
RNASEH2Bribonuclease H2 subunit B	Very often (80–99%)	In 1 condition
RNASEH2Cribonuclease H2 subunit C	Very often (80–99%)	In 1 condition
RNU7-1RNA, U7 small nuclear 1	Very often (80–99%)	In 1 condition
SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	Very often (80–99%)	In 1 condition
TREX1three prime repair exonuclease 1	Very often (80–99%)	In 1 condition
COL4A2collagen type IV alpha 2 chain	Often (30–79%)	In 2 conditions
COLGALT1collagen beta(1-O)galactosyltransferase 1	Often (30–79%)	In 1 condition
HRASHRas proto-oncogene, GTPase	Often (30–79%)	In 1 condition
KRASKRas proto-oncogene, GTPase	Often (30–79%)	In 1 condition
NRASNRAS proto-oncogene, GTPase	Often (30–79%)	In 1 condition
PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3	Often (30–79%)	In 1 condition
ZNHIT3zinc finger HIT-type containing 3	Often (30–79%)	In 1 condition
ARHGAP31Rho GTPase activating protein 31	Sometimes (5–29%)	In 1 condition
CPLANE1ciliogenesis and planar polarity effector complex subunit 1	Sometimes (5–29%)	In 1 condition
DLL4delta like canonical Notch ligand 4	Sometimes (5–29%)	In 1 condition
DOCK6dedicator of cytokinesis 6	Sometimes (5–29%)	In 1 condition
EOGTEGF domain specific O-linked N-acetylglucosamine transferase	Sometimes (5–29%)	In 1 condition
NEK1NIMA related kinase 1	Sometimes (5–29%)	In 1 condition
NOTCH1notch receptor 1	Sometimes (5–29%)	In 1 condition
RBPJrecombination signal binding protein for immunoglobulin kappa J region	Sometimes (5–29%)	In 1 condition
SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1	Sometimes (5–29%)	In 2 conditions
FGFR1fibroblast growth factor receptor 1	Not recorded	In 1 condition
GPX4glutathione peroxidase 4	Not recorded	In 1 condition
LAMB1laminin subunit beta 1	Not recorded	In 1 condition
OFD1OFD1 centriole and centriolar satellite protein	Not recorded	In 1 condition
TCTN3tectonic family member 3	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

Abnormal cerebral morphology

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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