{"Name":"HTRA1-related autosomal dominant cerebral small vessel disease","DiseaseID__c":"GARD:0017877","id":17877,"encodedName":"htra1-related-autosomal-dominant-cerebral-small-vessel-disease","IsDeleted":false,"Disease_Name_Full__c":"HTRA1-related autosomal dominant cerebral small vessel disease","Xref_IDs__c":"1186724002; C5568568; MEDGEN:1799991; MONDO:0018832; ORPHA:482077","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:482077","Disease_Description__c":"A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosus, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.","GARD_Name__c":"HTRA1-related autosomal dominant cerebral small vessel disease","GARD_Synonym__c":"htra serine peptidase 1-related autosomal dominant cerebral small vessel disease; htra1-related autosomal dominant cerebral angiopathy","Curated_Disease_Description_Source__c":"ORPHA:482077","Curated_Disease_Description__c":"A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:482077","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018832","ORPHANET_ID__c":"ORPHA:482077","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad cerebral de pequeño vaso autosómica dominante asociada al gen htra1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad cerebral de pequeño vaso autosómica dominante asociada al gen htra1","Spanish_GARD_Synonym__c":"angiopatía cerebral asociada al gen htra1 autosómica dominante","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 cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.","Curated_Disease_Description_Source__c":"ORPHA:482077","GARD_Synonym__c":"htra serine peptidase 1-related autosomal dominant cerebral small vessel disease; htra1-related autosomal dominant cerebral angiopathy","Name":"HTRA1-related autosomal dominant cerebral small vessel disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"},{"Account_Name__c":"United Leukodystrophy Foundation","Website__c":"https://ulf.org/"}],"GARD_Disease_Tag__c":[{"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":"Psychiatry","Tag_Category__c":"Specialist"},{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:482077"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:482077"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK32533","Source__c":"Gene Review","Xref__c":"NBK32533"},{"URL__c":"https://www.orpha.net/en/disease/detail/482077","Source__c":"C5568568; MONDO:0018832; ORPHA:482077","Xref__c":"ORPHA:482077"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799991","Source__c":"C5568568","Xref__c":"MEDGEN:1799991"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568568","Source__c":"C5568568","Xref__c":"C5568568"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1186724002","Source__c":"C5568568","Xref__c":"1186724002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018832","Source__c":"GARD:0017877","Xref__c":"MONDO:0018832"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HTRA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/htra1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Vascular Neurology","Vascular Medicine"]},"synonyms":["htra serine peptidase 1-related autosomal dominant cerebral small vessel disease"," htra1-related autosomal dominant cerebral angiopathy"]}