{"Name":"Hereditary neurocutaneous angiomata","DiseaseID__c":"GARD:0000676","id":676,"encodedName":"hereditary-neurocutaneous-angiomata","IsDeleted":false,"Disease_Name_Full__c":"Hereditary neurocutaneous angiomata","Xref_IDs__c":"403775003; C1275084; MEDGEN:226898; MONDO:0007116; OMIM:106070; ORPHA:1062","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007116","Disease_Description__c":"A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.","GARD_Name__c":"Hereditary neurocutaneous angiomata","GARD_Synonym__c":"hemangiomatosis, disseminated; hereditary neurocutaneous angioma; hereditary neurocutaneous malformation; hereditary neurocutaneous vascular malformations; spinal arterial venous malformations with cutaneous hemangiomas","Curated_Disease_Description_Source__c":"MONDO:0007116","Curated_Disease_Description__c":"A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:1062","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007116","ORPHANET_ID__c":"ORPHA:1062","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación neurocutánea hereditaria","Spanish_Description_Source__c":"ORPHA:1062","Spanish_Description__c":"Es una anomalía vascular de base genética poco frecuente caracterizada por la presencia de lesiones angiomatosas que afectan a la piel, al cerebro y a la médula espinal. Las lesiones del sistema nervioso central presentan una elevada tendencia al sangrado. No ha habido más casos descritos en la literatura desde 1988.","Spanish_Disease_Name__c":"malformación neurocutánea hereditaria","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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 genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988.","Curated_Disease_Description_Source__c":"MONDO:0007116","GARD_Synonym__c":"hemangiomatosis, disseminated; hereditary neurocutaneous angioma; hereditary neurocutaneous malformation; hereditary neurocutaneous vascular malformations; spinal arterial venous malformations with cutaneous hemangiomas","Name":"Hereditary neurocutaneous angiomata","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"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":"Infancy","Provided_By__c":"ORPHA:1062"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1062"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=226898","Source__c":"C1275084","Xref__c":"MEDGEN:226898"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1275084","Source__c":"C1275084","Xref__c":"C1275084"},{"URL__c":"https://www.omim.org/entry/106070","Source__c":"C1275084; MONDO:0007116; ORPHA:1062","Xref__c":"OMIM:106070"},{"URL__c":"https://www.orpha.net/en/disease/detail/1062","Source__c":"C1275084; MONDO:0007116; ORPHA:1062","Xref__c":"ORPHA:1062"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007116","Source__c":"GARD:0000676","Xref__c":"MONDO:0007116"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403775003","Source__c":"C1275084","Xref__c":"403775003"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1062","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1062","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002277","HPO_Synonym__c":"Horner's syndrome; Oculosympathetic palsy","HPO_Name__c":"Horner syndrome","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1062","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001028","HPO_Synonym__c":"Strawberry mark","HPO_Name__c":"Hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology","Epilepsy","Vascular Neurology","Vascular Medicine","Pediatrics"],"Disease Category":["Cancer","Genetics","Neurology","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Epilepsy"]},"synonyms":["hemangiomatosis, disseminated"," hereditary neurocutaneous angioma"," hereditary neurocutaneous malformation"," hereditary neurocutaneous vascular malformations"," spinal arterial venous malformations with cutaneous hemangiomas"]}