{"Name":"Tufted angioma of skin","DiseaseID__c":"GARD:0000425","id":425,"encodedName":"tufted-angioma-of-skin","IsDeleted":false,"Disease_Name_Full__c":"Tufted angioma of skin","Xref_IDs__c":"254786000; 705155008; C0346073; C4487; C536924; MEDGEN:83402; MONDO:0011927; OMIM:607859; ORPHA:1063","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011927","Disease_Description__c":"A rare vascular tumour that may be either congenital or acquired (appearing before the age of 5 years) with slow angiomatous proliferation.","GARD_Name__c":"Tufted angioma of skin","GARD_Synonym__c":"angioblastoma; angioblastoma of nakagawa; hypertrophic hemangioma; nakagawa angioblastoma; progressive capillary hemangioma; tufted angioma; tufted angioma (disease); tufted angioma of the skin; tufted hemangioma; tufted hemangioma of skin; tufted hemangioma of the skin; tufted skin angioma","Curated_Disease_Description_Source__c":"MONDO:0011927","Curated_Disease_Description__c":"A rare vascular tumor characterized by skin lesions with the appearance of poorly delineated red plaques or patches that may be either congenital or acquired (appearing usually in infants and early childhood) with slow angiomatous proliferation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:1063","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011927","ORPHANET_ID__c":"ORPHA:1063","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Angioma en penacho","Spanish_Description_Source__c":"ORPHA:1063","Spanish_Description__c":"Es un tumor vascular poco frecuente que puede ser congénito o adquirido (aparece antes de los 5 años de edad) con una proliferación angiomatosa lenta.","Spanish_Disease_Name__c":"angioma en penacho","Spanish_GARD_Synonym__c":"angioblastoma de nakagawa","Category_Linearization__c":"ORPHA:98028","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":"A rare vascular tumor characterized by skin lesions with the appearance of poorly delineated red plaques or patches that may be either congenital or acquired (appearing usually in infants and early childhood) with slow angiomatous proliferation.","Curated_Disease_Description_Source__c":"MONDO:0011927","GARD_Synonym__c":"angioblastoma; angioblastoma of nakagawa; hypertrophic hemangioma; nakagawa angioblastoma; progressive capillary hemangioma; tufted angioma; tufted angioma (disease); tufted angioma of the skin; tufted hemangioma; tufted hemangioma of skin; tufted hemangioma of the skin; tufted skin angioma","Name":"Tufted angioma of skin","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Organization of Vascular Anomalies","Website__c":"https://www.novanews.org/"},{"Account_Name__c":"Vascular Birthmarks Foundation","Website__c":"https://birthmark.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"All ages","Provided_By__c":"ORPHA:1063"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000425","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536924","Source__c":"MONDO:0011927","Xref__c":"C536924"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4487","Source__c":"C0346073; MONDO:0011927","Xref__c":"C4487"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=705155008","Source__c":"C0346073; MONDO:0011927","Xref__c":"705155008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83402","Source__c":"C0346073","Xref__c":"MEDGEN:83402"},{"URL__c":"https://www.omim.org/entry/607859","Source__c":"C0346073; MONDO:0011927; ORPHA:1063","Xref__c":"OMIM:607859"},{"URL__c":"https://www.orpha.net/en/disease/detail/1063","Source__c":"C0346073; MONDO:0011927; ORPHA:1063","Xref__c":"ORPHA:1063"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0346073","Source__c":"C0346073","Xref__c":"C0346073"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254786000","Source__c":"C0346073","Xref__c":"254786000"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012329","Source__c":"C0346073","Xref__c":"HP:0012329"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011927","Source__c":"GARD:0000425","Xref__c":"MONDO:0011927"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNA14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased concentration of fibrinogen in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011900","HPO_Synonym__c":"Low fibrinogen activity; Low fibrinogen level","HPO_Name__c":"Hypofibrinogenemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced count of megakaryocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005548","HPO_Synonym__c":"Megakaryocytes decreased im bone marrow","HPO_Name__c":"Megakaryocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000967","HPO_Name__c":"Petechiae","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lesion of the skin that is located in a specific region rather than being generalized.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011355","HPO_Synonym__c":"Localized skin lesion","HPO_Name__c":"Localized skin lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000329","HPO_Synonym__c":"Facial hemangiomata","HPO_Name__c":"Facial hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031490","HPO_Name__c":"Hemangioma of the lip","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of blood coagulation, common pathway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010990","HPO_Name__c":"Abnormality of the common coagulation pathway","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1063","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrichosis is increased hair growth that is abnormal in quantity or location.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000998","HPO_Name__c":"Hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Vascular Medicine","Pediatrics"],"Disease Category":["Cancer","Genetics","Congenital Abnormality"],"Cause":["Genetics"]},"synonyms":["angioblastoma"," angioblastoma of nakagawa"," hypertrophic hemangioma"," nakagawa angioblastoma"," progressive capillary hemangioma"," tufted angioma"," tufted angioma (disease)"," tufted angioma of the skin"," tufted hemangioma"," tufted hemangioma of skin"," tufted hemangioma of the skin"," tufted skin angioma"]}