Traits

Traits linked to KCNE5

potassium voltage-gated channel subfamily E regulatory subunit 5

The Human Phenotype Ontology links 34 traits to KCNE5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Complete right bundle branch block	Often (30–79%)
Fainting spell	Often (30–79%)
Heart stops beating	Often (30–79%)
ST segment elevation	Often (30–79%)
Abnormal aortic valve morphology	Sometimes (5–29%)
Elevated heart rate	Sometimes (5–29%)
First degree atrioventricular block	Sometimes (5–29%)
Paroxysmal ventricular tachycardia	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Sick sinus syndrome	Sometimes (5–29%)
Supraventricular tachycardia	Sometimes (5–29%)
Ventricular fibrillation	Sometimes (5–29%)
Trifascicular block	Rarely (1–4%)
Ventricular arrhythmia	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Decreased volume of lip	Often (30–79%)
Full lips	Often (30–79%)
Extra teeth	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Tapered finger	Often (30–79%)
Abnormality of the wide portion of a long bone	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Close sighted	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Glomerulopathy	Very often (80–99%)
Renal failure	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Very often (80–99%)
Small amount of blood in urine	Very often (80–99%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elliptocytosis	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of the hair	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability, severe	Very often (80–99%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to KCNE5 and how often each is seen. Find out more at hpo.jax.org.

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