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	나타나는 빈도
Arteriovenous malformation	매우 자주 (80–99%)
Aneurysm	자주 (30–79%)
Arteriovenous fistula	자주 (30–79%)
Bounding pulse	자주 (30–79%)
High-output congestive heart failure	자주 (30–79%)
Peripheral arteriovenous fistula	자주 (30–79%)
Prominent superficial blood vessels	자주 (30–79%)
Twisted blood vessels	자주 (30–79%)
Varicose veins	자주 (30–79%)
Venous malformation	자주 (30–79%)
Abnormal lymphatic vessel morphology	가끔 (5–29%)
Cerebral arteriovenous malformation	가끔 (5–29%)
Spinal arteriovenous malformation	가끔 (5–29%)
Hemangiomatosis	드물게 (1–4%)
Strawberry birthmark	기록되지 않음

Trait	나타나는 빈도
Abnormality of the lower limb	매우 자주 (80–99%)
Muscle hypertrophy of the lower extremities	자주 (30–79%)
Overgrowth of one leg	자주 (30–79%)
Abnormality of the upper limb	가끔 (5–29%)
Abnormality of the wide portion of the femoral bone	가끔 (5–29%)
Increased size of upper limb	가끔 (5–29%)
Lower limb muscle weakness	가끔 (5–29%)

Trait	나타나는 빈도
Conus terminalis arteriovenous malformation	가끔 (5–29%)
Decreased sensation in extremities	가끔 (5–29%)
Dural ectasia	가끔 (5–29%)
Headache	가끔 (5–29%)
Myelopathy	가끔 (5–29%)
Somatic sensory dysfunction	가끔 (5–29%)
Leg paralysis	드물게 (1–4%)

Trait	나타나는 빈도
Bleeding tendency	가끔 (5–29%)
Disseminated intravascular coagulation	가끔 (5–29%)
Subarachnoid hemorrhage	가끔 (5–29%)

Trait	나타나는 빈도
Nephrotic syndrome	가끔 (5–29%)
Urinary retention	가끔 (5–29%)
Urinary tract abnormalities	가끔 (5–29%)

Trait	나타나는 빈도
Back pain	가끔 (5–29%)
Lower limb pain	가끔 (5–29%)

Trait	나타나는 빈도
Abnormal circulating B-type natriuretic peptide concentration	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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.

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