Phenotypes associated with the disease hereditary hemorrhagic telangiectasia type 4 (OMIM:610655):
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: TAS. (OMIM:610655)
- Pulmonary arteriovenous malformation (HP:0006548): Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. Evidence: IEA. (OMIM:610655)
- Right-to-left shunt (HP:0001694): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. Evidence: IEA. (OMIM:610655)
- Arteriovenous fistulas of celiac and mesenteric vessels (HP:0002642). Evidence: IEA. (OMIM:610655)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: IEA. (OMIM:610655)
- Ischemic stroke (HP:0002140): Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. Evidence: IEA. (OMIM:610655)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: IEA. (OMIM:610655)
- Dilatation of mesenteric artery (HP:0011934): Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . Evidence: TAS. (OMIM:610655)
- Spinal arteriovenous malformation (HP:0002390). Evidence: IEA. (OMIM:610655)
- Dilatation of celiac artery (HP:0100858): Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. Evidence: TAS. (OMIM:610655)
- Palate telangiectasia (HP:0002707): The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. Evidence: IEA. (OMIM:610655)
- Cerebral arteriovenous malformation (HP:0002408): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. Evidence: IEA. (OMIM:610655)
- Conjunctival telangiectasia (HP:0000524): The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. Evidence: IEA. (OMIM:610655)
- Tongue telangiectasia (HP:0000227): Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. Evidence: IEA. (OMIM:610655)
- Venous varicosities of celiac and mesenteric vessels (HP:0002626): Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. Evidence: IEA. (OMIM:610655)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: IEA. (OMIM:610655)
- Spontaneous, recurrent epistaxis (HP:0004406). Evidence: IEA. Onset: Juvenile onset (HP:0003621). (OMIM:610655)
- Transient ischemic attack (HP:0002326). Evidence: IEA. (OMIM:610655)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:610655)
- High-output congestive heart failure (HP:0001722): A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. Evidence: IEA. (OMIM:610655)
- Lip telangiectasia (HP:0000214): Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. Evidence: IEA. (OMIM:610655)
- Nasal mucosa telangiectasia (HP:0000434): Telangiectasia of the nasal mucosa. Evidence: IEA. (OMIM:610655)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: IEA. (OMIM:610655)