Phenotypes associated with the disease Hereditary angioedema type 1 (ORPHA:100050, an Orphanet rare-disease identifier):
- Facial edema (HP:0000282, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Urticaria (HP:0001025, a Human Phenotype Ontology term): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Abnormality of metabolism/homeostasis (HP:0001939, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Abdominal pain (HP:0002027, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Paresthesia (HP:0003401, a Human Phenotype Ontology term): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Intestinal edema (HP:0005225, a Human Phenotype Ontology term): Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Edema of the dorsum of hands (HP:0007514, a Human Phenotype Ontology term): An abnormal accumulation of fluid beneath the skin on the back of the hands. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Dermatographic urticaria (HP:0011971, a Human Phenotype Ontology term): An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Laryngeal edema (HP:0012027, a Human Phenotype Ontology term): An abnormal accumulation of fluid and swelling in the tissues of the larynx. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Abnormal respiratory system morphology (HP:0012252, a Human Phenotype Ontology term): A structural anomaly of the respiratory system. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Limbal edema (HP:0025349, a Human Phenotype Ontology term): Swelling of the margin of the cornea overlapped by the sclera. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Tongue edema (HP:0040315, a Human Phenotype Ontology term): An abnormal accumulation of fluid and swelling in the tongue. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:100050)
- Vomiting (HP:0002013, a Human Phenotype Ontology term): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:100050)
- Diarrhea (HP:0002014, a Human Phenotype Ontology term): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:100050)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:100050)
- Nausea (HP:0002018, a Human Phenotype Ontology term): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:100050)
- Dyspnea (HP:0002094, a Human Phenotype Ontology term): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:100050)
- Abnormality of salivation (HP:0100755, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:100050)
- Abnormal uvula morphology (HP:0000172, a Human Phenotype Ontology term): Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:100050)
- Hoarse voice (HP:0001609, a Human Phenotype Ontology term): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:100050)
- Respiratory distress (HP:0002098, a Human Phenotype Ontology term): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:100050)
- Hypotension (HP:0002615, a Human Phenotype Ontology term): Low Blood Pressure, vascular hypotension. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:100050)
- Inspiratory stridor (HP:0005348, a Human Phenotype Ontology term): Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:100050)
- Abnormal epiglottis morphology (HP:0005483, a Human Phenotype Ontology term): An abnormality of the epiglottis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:100050)
- Pharyngeal edema (HP:0011855, a Human Phenotype Ontology term): Abnormal accumulation of fluid leading to swelling of the pharynx. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:100050)
- Abnormal soft palate morphology (HP:0100736, a Human Phenotype Ontology term): An abnormality of the soft palate. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:100050)