{"Name":"Pure autonomic failure","DiseaseID__c":"GARD:0010428","id":10428,"encodedName":"pure-autonomic-failure","IsDeleted":false,"Disease_Name_Full__c":"Pure autonomic failure","Xref_IDs__c":"84438001; C0393911; D054970; MEDGEN:98293; MONDO:0018608; ORPHA:441","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018608","Disease_Description__c":"Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.","GARD_Name__c":"Pure autonomic failure","GARD_Synonym__c":"autonomic failure; bradbury eggleston syndrome; bradbury-eggleston syndrome; idiopathic orthostatic hypotension; paf; pure dysautonomia; pure idiopatic dysautonomia","Curated_Disease_Description_Source__c":"GARD:0010428","Curated_Disease_Description__c":"Pure autonomic failure (PAF) is a neurodegenerative disease of the autonomic nervous system, which regulates body processes like blood pressure and breathing rate. PAF usually affects only the peripheral autonomic nervous system, which means it does not usually involve the brain and spinal cord (the central nervous system). Symptoms begin in midlife, although they can begin earlier. The main symptom of PAF is orthostatic hypotension, a sudden drop in blood pressure upon standing. This can cause dizziness, lightheadedness, blurry vision, and weakness. Other symptoms can include fatigue, bladder problems, constipation, abnormal sweating, and sleep disorders. The symptoms of PAF tend to get worse over time, and sometimes, PAF can lead to other conditions such as Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy. The cause of PAF is not known. The symptoms are caused by abnormal accumulations of protein, called Lewy bodies, in the cells of autonomic nerves. The Lewy bodies restrict the production and release of norepinephrine from nerve cells, which in turn causes hypotension. Diagnosis of PAF is based on the symptoms, clinical examination, and a thorough neurological examination. Testing may involve tilt table testing, 24-hour blood pressure monitoring, hyperventilation testing, and a norepinephrine blood test.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:441","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018608","ORPHANET_ID__c":"ORPHA:441","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fallo autonómico puro","Spanish_Description_Source__c":"ORPHA:441","Spanish_Description__c":"El fallo autonómico puro (FAP) es una enfermedad neurodegenerativa que afecta a la rama simpática del sistema nervioso central autónomo y que se manifiesta con hipotensión ortostática.","Spanish_Disease_Name__c":"fallo autonómico puro","Spanish_GARD_Synonym__c":"disautonomía pura; fap; hipotensión ortostática idiopática; síndrome de bradbury-eggleston","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":"Pure autonomic failure (PAF) is a neurodegenerative disease of the autonomic nervous system, which regulates body processes like blood pressure and breathing rate. PAF usually affects only the peripheral autonomic nervous system, which means it does not usually involve the brain and spinal cord (the central nervous system). Symptoms begin in midlife, although they can begin earlier. The main symptom of PAF is orthostatic hypotension, a sudden drop in blood pressure upon standing. This can cause dizziness, lightheadedness, blurry vision, and weakness. Other symptoms can include fatigue, bladder problems, constipation, abnormal sweating, and sleep disorders. The symptoms of PAF tend to get worse over time, and sometimes, PAF can lead to other conditions such as Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy. The cause of PAF is not known. The symptoms are caused by abnormal accumulations of protein, called Lewy bodies, in the cells of autonomic nerves. The Lewy bodies restrict the production and release of norepinephrine from nerve cells, which in turn causes hypotension. Diagnosis of PAF is based on the symptoms, clinical examination, and a thorough neurological examination. Testing may involve tilt table testing, 24-hour blood pressure monitoring, hyperventilation testing, and a norepinephrine blood test.","Curated_Disease_Description_Source__c":"GARD:0010428","GARD_Synonym__c":"autonomic failure; bradbury eggleston syndrome; bradbury-eggleston syndrome; idiopathic orthostatic hypotension; paf; pure dysautonomia; pure idiopatic dysautonomia","Name":"Pure autonomic failure","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dysautonomia International","Website__c":"https://www.dysautonomiainternational.org/"},{"Account_Name__c":"Dysautonomia Support Network","Website__c":"https://www.dysautonomiasupport.org/"},{"Account_Name__c":"Dysautonomia Information Network","Website__c":"https://www.dinet.org/"}],"GARD_Disease_Tag__c":[{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:441"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:441"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0393911"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/441","Source__c":"C0393911; MONDO:0018608; ORPHA:441","Xref__c":"ORPHA:441"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054970","Source__c":"C0393911; MONDO:0018608","Xref__c":"D054970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98293","Source__c":"C0393911","Xref__c":"MEDGEN:98293"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393911","Source__c":"C0393911","Xref__c":"C0393911"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=84438001","Source__c":"C0393911; MONDO:0018608","Xref__c":"84438001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018608","Source__c":"GARD:0010428","Xref__c":"MONDO:0018608"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:441","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal catecholamine concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012099","HPO_Synonym__c":"Catecholamine levels abnormal","HPO_Name__c":"Abnormality of circulating catecholamine level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:441","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Painful or difficult urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100518","HPO_Synonym__c":"Painful or difficult urination","HPO_Name__c":"Dysuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:441","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001279","HPO_Synonym__c":"Fainting spell","HPO_Name__c":"Syncope","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:441","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:441","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to develop or maintain an erection of the penis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000802","HPO_Synonym__c":"Difficulty getting a full erection; Difficulty getting an erection","HPO_Name__c":"Impotence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:441","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000970","HPO_Synonym__c":"Anhydrosis; Lack of sweating; Sudomotor dysfunction; Sweating dysfunction","HPO_Name__c":"Anhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:441","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025142","HPO_Name__c":"Constitutional symptom","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:441","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:441","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001278","HPO_Synonym__c":"Decrease in blood pressure upon standing up; Postural hypotension","HPO_Name__c":"Orthostatic hypotension","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:441","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology"]},"synonyms":["autonomic failure"," bradbury eggleston syndrome"," bradbury-eggleston syndrome"," idiopathic orthostatic hypotension"," paf"," pure dysautonomia"," pure idiopatic dysautonomia"]}