{"Name":"Posterior cortical atrophy","DiseaseID__c":"GARD:0018846","id":18846,"encodedName":"posterior-cortical-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Posterior cortical atrophy","Xref_IDs__c":"423022643; 715574002; C4275079; MEDGEN:909667; MONDO:0018899; ORPHA:54247","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018899","Disease_Description__c":"A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions.","GARD_Name__c":"Posterior cortical atrophy","GARD_Synonym__c":"benson syndrome; biparietal alzheimer disease; pca; posterior cortical atrophy syndrome","Curated_Disease_Description_Source__c":"MONDO:0018899","Curated_Disease_Description__c":"A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:54247","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018899","ORPHANET_ID__c":"ORPHA:54247","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia cortical posterior","Spanish_Description_Source__c":"ORPHA:54247","Spanish_Description__c":"Es una enfermedad neurológica poco frecuente caracterizada por afectación de las habilidades de procesamiento visual superiores y otras funciones corticales posteriores sin ninguna evidencia de anomalías oculares, con relativa conservación de la memoria y lenguaje en las primeras etapas, y atrofia de las regiones posteriores del cerebro.","Spanish_Disease_Name__c":"atrofia cortical posterior","Spanish_GARD_Synonym__c":"enfermedad de alzheimer biparietal; pca; síndrome de benson","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 neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions.","Curated_Disease_Description_Source__c":"MONDO:0018899","GARD_Synonym__c":"benson syndrome; biparietal alzheimer disease; pca; posterior cortical atrophy syndrome","Name":"Posterior cortical atrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alzheimer's Association","Website__c":"https://www.alz.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:54247"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715574002","Source__c":"C4275079; MONDO:0018899","Xref__c":"715574002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4275079","Source__c":"C4275079","Xref__c":"C4275079"},{"URL__c":"https://www.orpha.net/en/disease/detail/54247","Source__c":"C4275079; MONDO:0018899; ORPHA:54247","Xref__c":"ORPHA:54247"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=909667","Source__c":"C4275079","Xref__c":"MEDGEN:909667"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018899","Source__c":"GARD:0018846","Xref__c":"MONDO:0018899"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022643","Xref__c":"423022643"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual perception in the absence of a visual stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002367","HPO_Synonym__c":"Visual hallucinations","HPO_Name__c":"Visual hallucination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100704","HPO_Synonym__c":"Cortical blindness; Cortical visual impairment; Cortical/cerebral visual impairment; CVI","HPO_Name__c":"Cerebral visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000657","HPO_Synonym__c":"Ocular motor apraxia","HPO_Name__c":"Oculomotor apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:54247","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011098","HPO_Synonym__c":"Apraxia of speech; Verbal dyspraxia","HPO_Name__c":"Speech apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010523","HPO_Synonym__c":"Text blindness; Word blindness","HPO_Name__c":"Alexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A specific learning disability involving mathematics and arithmetic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002442","HPO_Synonym__c":"Acalculia","HPO_Name__c":"Dyscalculia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of clarity and coherence of thought, perception, understanding, or action.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001289","HPO_Synonym__c":"Confusion; Disorientation; Easily confused; Mental disorientation","HPO_Name__c":"Confusion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030216","HPO_Name__c":"Inertia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly in the ability to discriminate between or recognize colors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000551","HPO_Synonym__c":"Abnormal color vision; Abnormality of color vision; Disturbed color vision","HPO_Name__c":"Color vision defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002463","HPO_Synonym__c":"Language disorder","HPO_Name__c":"Language impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010526","HPO_Name__c":"Dysgraphia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010524","HPO_Synonym__c":"Agnosia","HPO_Name__c":"Disturbed sensory perception","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in performing the correct execution of limbs movements in absence of motor impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030217","HPO_Name__c":"Limb apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010522","HPO_Synonym__c":"Reading disability","HPO_Name__c":"Dyslexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The examiner identified the inability to name, move, or touch specific fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010525","HPO_Name__c":"Finger agnosia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54247","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002494","HPO_Synonym__c":"Abnormal REM sleep","HPO_Name__c":"Abnormal rapid eye movement sleep","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry"]},"synonyms":["benson syndrome"," biparietal alzheimer disease"," pca"," posterior cortical atrophy syndrome"]}