{"Name":"Blue rubber bleb nevus","DiseaseID__c":"GARD:0005940","id":5940,"encodedName":"blue-rubber-bleb-nevus","IsDeleted":false,"Disease_Name_Full__c":"Blue rubber bleb nevus","Xref_IDs__c":"254784002; C0346072; C4486; C536240; MEDGEN:83401; MONDO:0007203; OMIM:112200; ORPHA:1059","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007203","Disease_Description__c":"A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.","GARD_Name__c":"Blue rubber bleb nevus","GARD_Synonym__c":"bean syndrome; blue rubber bleb nevus syndrome; brbn; brbns","Curated_Disease_Description_Source__c":"GARD:0005940","Curated_Disease_Description__c":"Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person. Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis). Nevi in the intestines may bleed spontaneously and cause anemia or other complications. Other symptoms vary depending on the organ affected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1059","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007203","ORPHANET_ID__c":"ORPHA:1059","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nevo azul en tetina de goma","Spanish_Description_Source__c":"ORPHA:1059","Spanish_Description__c":"Es una malformación vascular poco frecuente con lesiones cutáneas y viscerales asociadas con frecuencia a hemorragias y anemia graves y potencialmente mortales.","Spanish_Disease_Name__c":"nevo azul en tetina de goma","Spanish_GARD_Synonym__c":"brbn; síndrome de bean","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":"Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person. Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis). Nevi in the intestines may bleed spontaneously and cause anemia or other complications. Other symptoms vary depending on the organ affected.","Curated_Disease_Description_Source__c":"GARD:0005940","GARD_Synonym__c":"bean syndrome; blue rubber bleb nevus syndrome; brbn; brbns","Name":"Blue rubber bleb nevus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Vascular Birthmarks Foundation","Website__c":"https://birthmark.org/"},{"Account_Name__c":"National Organization of Vascular Anomalies","Website__c":"https://www.novanews.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Childhood","Provided_By__c":"ORPHA:1059"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005940","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536240","Source__c":"MONDO:0007203","Xref__c":"C536240"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254784002","Source__c":"C0346072; MONDO:0007203","Xref__c":"254784002"},{"URL__c":"https://www.orpha.net/en/disease/detail/1059","Source__c":"C0346072; MONDO:0007203; ORPHA:1059","Xref__c":"ORPHA:1059"},{"URL__c":"https://www.omim.org/entry/112200","Source__c":"C0346072; MONDO:0007203; ORPHA:1059","Xref__c":"OMIM:112200"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0346072","Source__c":"C0346072","Xref__c":"C0346072"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4486","Source__c":"C0346072; MONDO:0007203","Xref__c":"C4486"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83401","Source__c":"C0346072","Xref__c":"MEDGEN:83401"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007203","Source__c":"GARD:0005940","Xref__c":"MONDO:0007203"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TEK","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tek","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002597","HPO_Synonym__c":"Abnormality of blood vessels; Abnormality of the vasculature; Vascular abnormalities","HPO_Name__c":"Abnormality of the vasculature","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001928","HPO_Synonym__c":"Abnormal blood coagulation studies; Coagulation abnormalities; Coagulation abnormality; Haemorrhagic disorders","HPO_Name__c":"Abnormality of coagulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005244","HPO_Synonym__c":"Death of digestive organ tissue due to poor blood supply; GI infarctions","HPO_Name__c":"Gastrointestinal infarctions","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bleeding from the intestines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002584","HPO_Synonym__c":"Intestinal bleeding; Intestinal hemorrhage","HPO_Name__c":"Intestinal bleeding","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of anemia in which the volume of the red blood cells is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001935","HPO_Name__c":"Microcytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100026","HPO_Name__c":"Arteriovenous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001048","HPO_Synonym__c":"Cavernous angioma; Cavernous haemangioma; Collection of dilated blood vessels that forms mass","HPO_Name__c":"Cavernous hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002580","HPO_Name__c":"Volvulus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1059","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100761","HPO_Name__c":"Visceral angiomatosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Vascular Medicine","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Account":["Dermatology"]},"synonyms":["bean syndrome"," blue rubber bleb nevus syndrome"," brbn"," brbns"]}