Traits

Traits linked to RASA1

RAS p21 protein activator 1

The Human Phenotype Ontology links 46 traits to RASA1, 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
Arteriovenous malformation	Very often (80–99%)
Aneurysm	Often (30–79%)
Arteriovenous fistula	Often (30–79%)
Bounding pulse	Often (30–79%)
High-output congestive heart failure	Often (30–79%)
Peripheral arteriovenous fistula	Often (30–79%)
Prominent superficial blood vessels	Often (30–79%)
Twisted blood vessels	Often (30–79%)
Varicose veins	Often (30–79%)
Venous malformation	Often (30–79%)
Abnormal lymphatic vessel morphology	Sometimes (5–29%)
Cerebral arteriovenous malformation	Sometimes (5–29%)
Spinal arteriovenous malformation	Sometimes (5–29%)
Hemangiomatosis	Rarely (1–4%)
Strawberry birthmark	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the lower limb	Very often (80–99%)
Muscle hypertrophy of the lower extremities	Often (30–79%)
Overgrowth of one leg	Often (30–79%)
Abnormality of the upper limb	Sometimes (5–29%)
Abnormality of the wide portion of the femoral bone	Sometimes (5–29%)
Increased size of upper limb	Sometimes (5–29%)
Lower limb muscle weakness	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Conus terminalis arteriovenous malformation	Sometimes (5–29%)
Decreased sensation in extremities	Sometimes (5–29%)
Dural ectasia	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Myelopathy	Sometimes (5–29%)
Somatic sensory dysfunction	Sometimes (5–29%)
Leg paralysis	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Capillary malformation	Very often (80–99%)
Erythematous plaque	Often (30–79%)
Open skin sore	Sometimes (5–29%)
Scaling skin	Sometimes (5–29%)
Basal cell carcinoma	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding tendency	Sometimes (5–29%)
Disseminated intravascular coagulation	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Sometimes (5–29%)
Urinary retention	Sometimes (5–29%)
Urinary tract abnormalities	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Sometimes (5–29%)
Neck pain	Sometimes (5–29%)
Pain	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Back pain	Sometimes (5–29%)
Lower limb pain	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating B-type natriuretic peptide concentration	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 RASA1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test