Phenotypes associated with the disease Spinal arteriovenous metameric syndrome (ORPHA:53721):
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:53721)
- Sensory neuropathy (HP:0000763): Peripheral neuropathy affecting the sensory nerves. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Abnormality of the vertebral column (HP:0000925): Any abnormality of the vertebral column. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Angiokeratoma (HP:0001014): Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:53721)
- Nevus flammeus (HP:0001052): A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:53721)
- Abnormal spinal cord morphology (HP:0002143): A structural abnormality of the spinal cord (myelon). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Paraparesis (HP:0002385): Weakness or partial paralysis in the lower limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Spinal arteriovenous malformation (HP:0002390). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:53721)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Urinary bladder sphincter dysfunction (HP:0002839): Abnormal function of a sphincter of the urinary bladder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Cutaneous angiolipomas (HP:0006773). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:53721)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:53721)
- Arteriovenous malformation (HP:0100026): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Gangrene (HP:0100758): A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:53721)
- Visceral angiomatosis (HP:0100761). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:53721)
- Lymphangioma (HP:0100764): Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:53721)