{"Name":"ADan amyloidosis","DiseaseID__c":"GARD:0009169","id":9169,"encodedName":"adan-amyloidosis","IsDeleted":false,"Disease_Name_Full__c":"ADan amyloidosis","Xref_IDs__c":"783258000; C1861735; C538209; DOID:0070030; MEDGEN:396208; MONDO:0007297; OMIM:117300; ORPHA:97346","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":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007297","Disease_Description__c":"A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.","GARD_Name__c":"ADan amyloidosis","GARD_Synonym__c":"cerebellar ataxia, cataract, deafness, and dementia or psychosis; cerebral amyloid angiopathy, itm2b-related, 2; cerebral amyloid angiopathy, itm2b-related, type 2; familial danish dementia; familial dementia danish type; familial dementia, danish type; fdd; heredopathia ophthalmootoencephalica; hooe","Curated_Disease_Description_Source__c":"MONDO:0007297","Curated_Disease_Description__c":"A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia 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":null,"SourceID__c":"ORPHA:97346","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007297","ORPHANET_ID__c":"ORPHA:97346","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amiloidosis adan","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"amiloidosis adan","Spanish_GARD_Synonym__c":"demencia familiar tipo danesa","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 ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.","Curated_Disease_Description_Source__c":"MONDO:0007297","GARD_Synonym__c":"cerebellar ataxia, cataract, deafness, and dementia or psychosis; cerebral amyloid angiopathy, itm2b-related, 2; cerebral amyloid angiopathy, itm2b-related, type 2; familial danish dementia; familial dementia danish type; familial dementia, danish type; fdd; heredopathia ophthalmootoencephalica; hooe","Name":"ADan 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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861735"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009169","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/117300","Source__c":"C1861735; MONDO:0007297; ORPHA:97346","Xref__c":"OMIM:117300"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861735","Source__c":"C1861735","Xref__c":"C1861735"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=396208","Source__c":"C1861735","Xref__c":"MEDGEN:396208"},{"URL__c":"https://www.orpha.net/en/disease/detail/97346","Source__c":"C1861735; MONDO:0007297; ORPHA:97346","Xref__c":"ORPHA:97346"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538209","Source__c":"MONDO:0007297","Xref__c":"C538209"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070030","Source__c":"MONDO:0007297","Xref__c":"DOID:0070030"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783258000","Source__c":"C1861735","Xref__c":"783258000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007297","Source__c":"GARD:0009169","Xref__c":"MONDO:0007297"}],"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:117300","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:117300","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"}},{"Provided_By__c":"OMIM:117300","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:117300","Feature__r":{"HPO_Description__c":"A polar cataract that affects the posterior pole of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001115","HPO_Synonym__c":"Polar cataract, posterior","HPO_Name__c":"Posterior polar cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:117300","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:117300","Feature__r":{"HPO_Description__c":"A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000709","HPO_Synonym__c":"Psychosis","HPO_Name__c":"Psychosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:117300","Feature__r":{"HPO_Description__c":"Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002185","HPO_Synonym__c":"Neurofibrillary tangles composed of disordered microtubules in neurons; NFTs; Paired helical filaments; Tau-positive neurofibrillary tangles; Tau-positive tangle","HPO_Name__c":"Neurofibrillary tangles","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:117300","Feature__r":{"HPO_Description__c":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002080","HPO_Name__c":"Intention tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:117300","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Rheumatology","Psychiatry","Vascular Neurology","Vascular Medicine"]},"synonyms":["cerebellar ataxia, cataract, deafness, and dementia or psychosis"," cerebral amyloid angiopathy, itm2b-related, 2"," cerebral amyloid angiopathy, itm2b-related, type 2"," familial danish dementia"," familial dementia danish type"," familial dementia, danish type"," fdd"," heredopathia ophthalmootoencephalica"," hooe"]}