Traits

Traits linked to HTRA2

HtrA serine peptidase 2

The Human Phenotype Ontology links 65 traits to HTRA2, by body system: features seen in people with one of the gene's rare conditions.

HTRA2

Abnormality of the nervous system

Trait	How often it is seen
Elevated brain lactate level by MRS	Always
Balance impairment	Often (30–79%)
Depression	Often (30–79%)
Disorder of involuntary muscle movements	Often (30–79%)
Epilepsy	Often (30–79%)
Hallucinations	Often (30–79%)
Lack of feeling, emotion, interest	Often (30–79%)
Tremor	Often (30–79%)
Abnormal autonomic nervous system physiology	Sometimes (5–29%)
Abnormality of balance	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Clonus	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Dementia	Sometimes (5–29%)
Difficulty staying or falling asleep	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Panic attack	Sometimes (5–29%)
Poor social interactions	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)
Slow movements	Sometimes (5–29%)
Willis-Ekbom disease	Sometimes (5–29%)
Agitation	Rarely (1–4%)
Frontal lobe dementia	Rarely (1–4%)
Impulsivity	Rarely (1–4%)
Degeneration of cerebrum	Not recorded
Parkinsonism with favorable response to dopaminergic medication	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded
Ventriculomegaly	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Constipation	Sometimes (5–29%)
Delayed gastric emptying	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Jaundice	Sometimes (5–29%)
Nausea	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)
Poor suck	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Rigidity	Very often (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Muscle spasm	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded
Spasticity and rigidity of muscles	Not recorded

Laboratory abnormality

Trait	How often it is seen
3-Methylglutaconic aciduria	Always
3-Methylglutaric aciduria	Always
Low blood sugar in newborn	Sometimes (5–29%)
Higher than normal levels of lactate in blood	Not recorded
Increased CSF lactate	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Very often (80–99%)
Breathing cessation	Sometimes (5–29%)
Shallow breathing	Sometimes (5–29%)
Apnea	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormal color vision	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Double vision	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Hyposmia	Sometimes (5–29%)
Development of small head that was not present at birth	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent ductus arteriosus	Sometimes (5–29%)
Slow heartbeats	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Female sexual dysfunction	Sometimes (5–29%)
Male sexual dysfunction	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

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 HTRA2 and how often each is seen. Find out more at hpo.jax.org.

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