Traits

Traits linked to P4HA2

prolyl 4-hydroxylase subunit alpha 2

The Human Phenotype Ontology links 75 traits to P4HA2, by body system: features seen in people with one of the gene's rare conditions.

P4HA2

Abnormality of the cardiovascular system

Trait	How often it is seen
Disruption of blood oxygen supply to brain	Very often (80–99%)
Inflammation of blood vessel	Very often (80–99%)
Abnormal systemic blood pressure	Often (30–79%)
Jaw pain while chewing	Often (30–79%)
Abdominal aortic aneurysm	Sometimes (5–29%)
Abnormal heart rate	Sometimes (5–29%)
Absent superficial temporal artery pulse	Sometimes (5–29%)
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
Swelling or irritation of membrane around heart	Sometimes (5–29%)
Swollen lymph nodes in center of chest	Sometimes (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Severe near sightedness	Always
Blurred vision	Often (30–79%)
Visual impairment	Often (30–79%)
Weakness of muscles controlling eye movement	Often (30–79%)
Amaurosis fugax	Sometimes (5–29%)
Double vision	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Retinal detachment	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Headache	Very often (80–99%)
Depression	Often (30–79%)
Ataxia	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)
Visual hallucinations	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating C-reactive protein concentration	Very often (80–99%)
Fever	Very often (80–99%)
Elevated circulating alpha-globulin concentration	Often (30–79%)
Elevated circulating calprotectin concentration	Often (30–79%)
Elevated circulating osteopontin concentration	Often (30–79%)
High ESR	Often (30–79%)
Blood in urine	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Carotidynia	Often (30–79%)
Malaise	Often (30–79%)
Death of body tissue due to lack of blood flow or infection	Sometimes (5–29%)
Joint pain	Sometimes (5–29%)
Muscle ache	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hyperfibrinogenemia	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Blood clot in artery	Sometimes (5–29%)
Bloody nose	Sometimes (5–29%)
Platelet abnormalities	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Chewing difficulties	Very often (80–99%)
Inflammation of the tongue	Sometimes (5–29%)
Recurrent sore throat	Sometimes (5–29%)
Scalp tenderness	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Very often (80–99%)
Abdominal pain	Sometimes (5–29%)
Death of digestive organ tissue due to poor blood supply	Sometimes (5–29%)
Liver failure	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint stiffness	Very often (80–99%)
Arthritis	Often (30–79%)
Polyarticular arthritis	Often (30–79%)
Muscle weakness	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Sometimes (5–29%)
Dizziness	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Hair loss	Often (30–79%)
Excessive sweating	Sometimes (5–29%)
Open skin sore	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pleura morphology	Sometimes (5–29%)
Cough	Sometimes (5–29%)
Dry cough	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Increased circulating interleukin 6 concentration	Often (30–79%)
Meningitis	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Diabetes insipidus	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Renal failure	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	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 P4HA2 and how often each is seen. Find out more at hpo.jax.org.

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