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Trait

Cyanotic episode

HPO HP:0200048

Summary

Body system
Abnormality of the integument

9 genes linked to Cyanotic episode

Changes in these genes cause rare conditions in which Cyanotic episode 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
SMAD4SMAD family member 4AlwaysIn 1 condition
PSAT1phosphoserine aminotransferase 1Often (30–79%)In 2 conditions
GABRA1gamma-aminobutyric acid type A receptor subunit alpha1Sometimes (5–29%)In 1 condition
GABRG2gamma-aminobutyric acid type A receptor subunit gamma2Sometimes (5–29%)In 1 condition
PCDH19protocadherin 19Sometimes (5–29%)In 1 condition
SCN1Asodium voltage-gated channel alpha subunit 1Sometimes (5–29%)In 1 condition
SCN1Bsodium voltage-gated channel beta subunit 1Sometimes (5–29%)In 1 condition
SCN2Asodium voltage-gated channel alpha subunit 2Sometimes (5–29%)In 1 condition
SCN9Asodium voltage-gated channel alpha subunit 9Sometimes (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

Blue discoloration of the skin

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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