{"Name":"Hereditary hemorrhagic telangiectasia type 4","DiseaseID__c":"GARD:0010615","id":10615,"encodedName":"hereditary-hemorrhagic-telangiectasia-type-4","IsDeleted":false,"Disease_Name_Full__c":"Hereditary hemorrhagic telangiectasia type 4","Xref_IDs__c":"C1857688; C565691; MEDGEN:341824; MONDO:0012532; OMIM:610655","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:610655","Disease_Description__c":"For a general phenotypic description and a discussion of genetic heterogeneity of hereditary hemorrhagic telangiectasia (HHT), see HHT1 ({187300}).","GARD_Name__c":"Hereditary hemorrhagic telangiectasia type 4","GARD_Synonym__c":"hht4","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Telangiectasia, hereditary hemorrhagic, type 4 is a disease that is passed down through families. It causes abnormal connections between arteries and veins in the skin, mucous membranes, and organs. This can lead to frequent nosebleeds and malformations in the lungs. The disease can look different in different people and can be caused by changes in different genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:610655","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012532","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Telangiectasia, hereditary hemorrhagic, type 4 is a disease that is passed down through families. It causes abnormal connections between arteries and veins in the skin, mucous membranes, and organs. This can lead to frequent nosebleeds and malformations in the lungs. The disease can look different in different people and can be caused by changes in different genes.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"hht4","Name":"Hereditary hemorrhagic telangiectasia type 4","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Aneurysm and AVM Foundation","Website__c":"https://taafonline.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010615","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1351","Source__c":"Gene Review","Xref__c":"NBK1351"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857688","Source__c":"C1857688","Xref__c":"C1857688"},{"URL__c":"https://www.omim.org/entry/610655","Source__c":"C1857688; MONDO:0012532","Xref__c":"OMIM:610655"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565691","Source__c":"MONDO:0012532","Xref__c":"C565691"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341824","Source__c":"C1857688","Xref__c":"MEDGEN:341824"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012532","Source__c":"GARD:0010615","Xref__c":"MONDO:0012532"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004406","HPO_Synonym__c":"Recurrent epistaxes; Recurrent epistaxis; Recurring nosebleed; Spontaneous, recurrent nosebleed","HPO_Name__c":"Spontaneous, recurrent epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000524","HPO_Synonym__c":"Conjunctival telangiectases; Small dilated blood vessels near membrane covering front of eye and eyelids; Telangiectasia, conjunctival","HPO_Name__c":"Conjunctival telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002408","HPO_Synonym__c":"Cerebral AV malformation","HPO_Name__c":"Cerebral arteriovenous malformation","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002390","HPO_Name__c":"Spinal arteriovenous malformation","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002140","HPO_Name__c":"Ischemic stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Telangiectasia of the nasal mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000434","HPO_Synonym__c":"Angioectasia of mucosa of nose; Angioectasia of mucous membrane of nose; Angioectasia of nasal mucous membrane; Nasal mucous membrane telangiectasia; Spider veins of mucosa of nose; Spider veins of mucous membrane of nose; Spider veins of nasal mucous membrane; Telangiectasia of mucosa of nose; Telangiectasia of mucous membrane of nose; Telangiectasia of nasal mucous membrane","HPO_Name__c":"Nasal mucosa telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011934","HPO_Name__c":"Dilatation of mesenteric artery","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002707","HPO_Synonym__c":"Palatal angioectasia; Palatal telangiectasia; Palate telangiectases; Palate teleangiectases; Telangiectasia of the roof of the mouth","HPO_Name__c":"Palate telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001722","HPO_Name__c":"High-output congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002326","HPO_Synonym__c":"Mini stroke; TIA; Transient ischemic attacks","HPO_Name__c":"Transient ischemic attack","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100858","HPO_Name__c":"Dilatation of celiac artery","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001342","HPO_Synonym__c":"Bleeding in brain; Intracerebral hemorrhage","HPO_Name__c":"Cerebral hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006548","HPO_Synonym__c":"Pulmonary AV malformation","HPO_Name__c":"Pulmonary arteriovenous malformation","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001694","HPO_Name__c":"Right-to-left shunt","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000214","HPO_Synonym__c":"Labial telangiectasia; Lip telangiectases; Telangiectasia of the lips","HPO_Name__c":"Lip telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000227","HPO_Synonym__c":"Lingual telangiectasia","HPO_Name__c":"Tongue telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002642","HPO_Name__c":"Arteriovenous fistulas of celiac and mesenteric vessels","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Hemorrhage occurring between the arachnoid mater and the pia mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002138","HPO_Synonym__c":"Subarachnoid hemorrhage","HPO_Name__c":"Subarachnoid hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610655","Feature__r":{"HPO_Description__c":"Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002626","HPO_Name__c":"Venous varicosities of celiac and mesenteric vessels","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Vascular Medicine"]},"synonyms":["hht4"]}