{"Name":"Lymphedema-cerebral arteriovenous anomaly syndrome","DiseaseID__c":"GARD:0009217","id":9217,"encodedName":"lymphedema-cerebral-arteriovenous-anomaly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lymphedema-cerebral arteriovenous anomaly syndrome","Xref_IDs__c":"C1835272; C563612; MEDGEN:322617; MONDO:0007917; OMIM:152900; ORPHA:86914","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007917","Disease_Description__c":"Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986.","GARD_Name__c":"Lymphedema-cerebral arteriovenous anomaly syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0007917","Curated_Disease_Description__c":"Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:86914","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007917","ORPHANET_ID__c":"ORPHA:86914","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de linfedema-anomalía arteriovenosa cerebral-hipertensión pulmonar primaria","Spanish_Description_Source__c":"ORPHA:86914","Spanish_Description__c":"Es un síndrome caracterizado por la asociación variable de malformación cerebrovascular, linfedema del pie e hipertensión pulmonar primaria. Se ha notificado en una mujer y cuatro de sus hijos. No ha habido más descripciones en la literatura desde 1986.","Spanish_Disease_Name__c":"síndrome de linfedema-anomalía arteriovenosa cerebral-hipertensión pulmonar primaria","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986.","Curated_Disease_Description_Source__c":"MONDO:0007917","Name":"Lymphedema-cerebral arteriovenous anomaly syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:86914"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322617","Source__c":"C1835272","Xref__c":"MEDGEN:322617"},{"URL__c":"https://www.orpha.net/en/disease/detail/86914","Source__c":"C1835272; MONDO:0007917","Xref__c":"ORPHA:86914"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835272","Source__c":"C1835272","Xref__c":"C1835272"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563612","Source__c":"MONDO:0007917","Xref__c":"C563612"},{"URL__c":"https://www.omim.org/entry/152900","Source__c":"C1835272; MONDO:0007917; ORPHA:86914","Xref__c":"OMIM:152900"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007917","Source__c":"GARD:0009217","Xref__c":"MONDO:0007917"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:152900","Feature__r":{"HPO_Description__c":"An anomaly of the cerebral blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100659","HPO_Synonym__c":"Abnormality of the cerebral blood vessels; Abnormality of the cerebral vasculature","HPO_Name__c":"Abnormal cerebral vascular morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:152900","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:152900","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Vascular Medicine","Pediatrics"]},"synonyms":[""]}