{"Name":"ABri amyloidosis","DiseaseID__c":"GARD:0008344","id":8344,"encodedName":"abri-amyloidosis","IsDeleted":false,"Disease_Name_Full__c":"ABri amyloidosis","Xref_IDs__c":"783161005; C5190835; C538208; DOID:0070029; MEDGEN:1677186; MONDO:0008306; OMIM:176500; ORPHA:97345","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008306","Disease_Description__c":"A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.","GARD_Name__c":"ABri amyloidosis","GARD_Synonym__c":"cerebral amyloid angiopathy, british type; cerebral amyloid angiopathy, itm2b-related, 1; cerebral amyloid angiopathy, itm2b-related, type 1; familial british dementia; familial british dementia with amyloid angiopathy; familial dementia british type; familial dementia, british type; fbd; presenile dementia with spastic ataxia","Curated_Disease_Description_Source__c":"MONDO:0008306","Curated_Disease_Description__c":"A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:97345","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008306","ORPHANET_ID__c":"ORPHA:97345","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amiloidosis abri","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"amiloidosis abri","Spanish_GARD_Synonym__c":"demencia familiar tipo británica","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 cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.","Curated_Disease_Description_Source__c":"MONDO:0008306","GARD_Synonym__c":"cerebral amyloid angiopathy, british type; cerebral amyloid angiopathy, itm2b-related, 1; cerebral amyloid angiopathy, itm2b-related, type 1; familial british dementia; familial british dementia with amyloid angiopathy; familial dementia british type; familial dementia, british type; fbd; presenile dementia with spastic ataxia","Name":"ABri amyloidosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Amyloidosis Foundation","Website__c":"https://www.amyloidosis.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":"Rheumatology","Tag_Category__c":"Specialist"},{"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":"Adult","Provided_By__c":"ORPHA:97345"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1867773"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008344","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/176500","Source__c":"C5190835; MONDO:0008306; ORPHA:97345","Xref__c":"OMIM:176500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1677186","Source__c":"C5190835","Xref__c":"MEDGEN:1677186"},{"URL__c":"https://www.orpha.net/en/disease/detail/97345","Source__c":"C5190835; MONDO:0008306; ORPHA:97345","Xref__c":"ORPHA:97345"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538208","Source__c":"MONDO:0008306","Xref__c":"C538208"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070029","Source__c":"MONDO:0008306","Xref__c":"DOID:0070029"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190835","Source__c":"C5190835","Xref__c":"C5190835"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008306","Source__c":"GARD:0008344","Xref__c":"MONDO:0008306"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783161005","Source__c":"C5190835","Xref__c":"783161005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ITM2B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/itm2b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:176500","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:176500","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002344","HPO_Synonym__c":"Neurologic deterioration; Neurologic deterioration, progressive; Progressive mental deterioration; Progressive neurodegeneration; Worsening neurological symptoms","HPO_Name__c":"Progressive neurologic deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:176500","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:176500","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:176500","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:176500","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:176500","Feature__r":{"HPO_Description__c":"Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011970","HPO_Name__c":"Cerebral amyloid angiopathy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Rheumatology","Psychiatry","Vascular Neurology","Vascular Medicine"]},"synonyms":["cerebral amyloid angiopathy, british type"," cerebral amyloid angiopathy, itm2b-related, 1"," cerebral amyloid angiopathy, itm2b-related, type 1"," familial british dementia"," familial british dementia with amyloid angiopathy"," familial dementia british type"," familial dementia, british type"," fbd"," presenile dementia with spastic ataxia"]}