{"Name":"Autosomal recessive cerebral atrophy","DiseaseID__c":"GARD:0021560","id":21560,"encodedName":"autosomal-recessive-cerebral-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive cerebral atrophy","Xref_IDs__c":"776087007; C4755252; MEDGEN:1653890; MONDO:0018218; ORPHA:363969","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:363969","Disease_Description__c":"A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.","GARD_Name__c":"Autosomal recessive cerebral atrophy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:363969","Curated_Disease_Description__c":"A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:363969","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018218","ORPHANET_ID__c":"ORPHA:363969","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia cerebral autosómica recesiva","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"atrofia cerebral autosómica recesiva","Spanish_GARD_Synonym__c":null,"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, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures.","Curated_Disease_Description_Source__c":"ORPHA:363969","Name":"Autosomal recessive cerebral atrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:363969"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:363969"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/363969","Source__c":"C4755252; MONDO:0018218; ORPHA:363969","Xref__c":"ORPHA:363969"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1653890","Source__c":"C4755252","Xref__c":"MEDGEN:1653890"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4755252","Source__c":"C4755252","Xref__c":"C4755252"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=776087007","Source__c":"C4755252","Xref__c":"776087007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018218","Source__c":"GARD:0021560","Xref__c":"MONDO:0018218"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TMPRSS4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":[""]}