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Trait

Blake's pouch cyst

The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.

HPO HP:0033140

Summary

Body system
Abnormality of head or neckAbnormality of the musculoskeletal system

1 gene linked to Blake's pouch cyst

Changes in these genes cause rare conditions in which Blake's pouch cyst 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
PPFIBP1PPFIB scaffold protein 1Sometimes (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

Abnormal posterior cranial fossa 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 2026.10.16-c6eea6bf.

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