Traits

Traits linked to HTRA1

HtrA serine peptidase 1

The Human Phenotype Ontology links 65 traits to HTRA1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Abnormal pyramidal sign	Always
Anxiety	Always
Brain degeneration	Always
Delusions	Always
Difficulty finding words	Always
Diffuse white matter abnormalities	Always
Gait apraxia	Always
Hallucinations	Always
Hyperintensity of cerebral white matter on MRI	Always
Lack of coordination of movement	Always
Leukoencephalopathy	Always
Pseudobulbar signs	Always
Dementia	Very often (80–99%)
Status cribrosum	Very often (80–99%)
Behavioral abnormality	Often (30–79%)
Cognitive impairment	Often (30–79%)
Deep cerebral white matter hyperintensities	Often (30–79%)
Spastic ataxia	Often (30–79%)
Abulia	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Akinetic mutism	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Diffuse cerebral atrophy	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Lack of feeling, emotion, interest	Sometimes (5–29%)
Mental deterioration	Sometimes (5–29%)
Somatic sensory dysfunction	Sometimes (5–29%)
Weakness of one side of body	Sometimes (5–29%)
Grand mal seizures	Rarely (1–4%)
Abnormality of extrapyramidal motor function	Not recorded
Ataxia	Not recorded
Babinski sign	Not recorded
Difficulty articulating speech	Not recorded
Diffuse demyelination of the cerebral white matter	Not recorded
Increased reflexes	Not recorded
Progressive brain disease	Not recorded
Recurrent subcortical infarcts	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Hardened artery wall in small cerebral arteries	Always
Lacunar stroke	Always
Mini stroke	Always
Narrowing of carotid artery	Always
Hardened artery wall	Often (30–79%)
High blood pressure	Often (30–79%)
Stroke	Often (30–79%)
Stroke-like episode	Often (30–79%)
Dilation of Virchow-Robin spaces	Not recorded
Vascular granular osmiophilic material deposition	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Back pain	Often (30–79%)
Cervical spine degeneration	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Localized osteoporosis	Often (30–79%)
Lower limb pain	Often (30–79%)
Rigidity	Sometimes (5–29%)
Kyphoscoliosis	Rarely (1–4%)
Lumbago	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Loss of bowel control	Always
Pseudobulbar paralysis	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Absence of scalp hair	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Always

Abnormality of the integument

Trait	How often it is seen
Hair loss	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Neck pain	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 HTRA1 and how often each is seen. Find out more at hpo.jax.org.

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