Clinical Signs and Symptoms
ORPHA:774 Hereditary hemorrhagic telangiectasia
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Epistaxis HP:0000421
- Mucosal telangiectasiae HP:0100579
- Telangiectasia of the skin HP:0100585
Very frequent
- Abnormality of cardiovascular system physiology HP:0011025
- Arteriovenous malformation HP:0100026
- Cavernous hemangioma HP:0001048
- Cholecystitis HP:0001082
- Microcytic anemia HP:0001935
- Migraine HP:0002076
- Portal hypertension HP:0001409
- Spontaneous hematomas HP:0007420
- Visceral angiomatosis HP:0100761
Frequent
- Abnormality of the cerebral vasculature HP:0100659
- Amblyopia HP:0000646
- Cerebral hemorrhage HP:0001342
- Cholelithiasis HP:0001081
- Cirrhosis HP:0001394
- Congestive heart failure HP:0001635
- Conjunctival telangiectasia HP:0000524
- Esophageal varix HP:0002040
- Gastrointestinal hemorrhage HP:0002239
- Hematuria HP:0000790
- Hemoptysis HP:0002105
- Hepatic failure HP:0001399
- Intestinal polyposis HP:0200008
- Nephrolithiasis HP:0000787
- Peripheral arteriovenous fistula HP:0100784
- Pulmonary arterial hypertension HP:0002092
- Pulmonary embolism HP:0002204
- Retinal telangiectasia HP:0007763
- Seizures HP:0001250
- Subarachnoid hemorrhage HP:0002138
- Transient ischemic attack HP:0002326
- Venous thrombosis HP:0004936
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.