{"Name":"Spastic quadriplegic cerebral palsy","DiseaseID__c":"GARD:0017109","id":17109,"encodedName":"spastic-quadriplegic-cerebral-palsy","IsDeleted":false,"Disease_Name_Full__c":"Spastic quadriplegic cerebral palsy","Xref_IDs__c":"192965001; C0426970; C116904; DOID:10970; G80.0; MEDGEN:98433; MONDO:0016215; OMIMPS:612900; ORPHA:210141","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016215","Disease_Description__c":"A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.","GARD_Name__c":"Spastic quadriplegic cerebral palsy","GARD_Synonym__c":"inherited congenital spastic quadriplegia; inherited congenital spastic tetraplegia; quadriplegic infantile cerebral palsy; slowly progressive spastic quadriparesis; spastic quadriplegia; spastic tetraplegia; spastic tetraplegia cerebral palsy; tetraplegic infantile cerebral palsy","Curated_Disease_Description_Source__c":"ORPHA:210141","Curated_Disease_Description__c":"Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.","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:210141","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016215","ORPHANET_ID__c":"ORPHA:210141","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tetraplejía espástica congénita hereditaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"tetraplejía espástica congénita hereditaria","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":"Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.","Curated_Disease_Description_Source__c":"ORPHA:210141","GARD_Synonym__c":"inherited congenital spastic quadriplegia; inherited congenital spastic tetraplegia; quadriplegic infantile cerebral palsy; slowly progressive spastic quadriparesis; spastic quadriplegia; spastic tetraplegia; spastic tetraplegia cerebral palsy; tetraplegic infantile cerebral palsy","Name":"Spastic quadriplegic cerebral palsy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Cerebral Palsy","Website__c":"https://www.ucp.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:210141"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:210141"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=192965001","Source__c":"C0426970; MONDO:0016215","Xref__c":"192965001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0426970","Source__c":"C0426970","Xref__c":"C0426970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98433","Source__c":"C0426970","Xref__c":"MEDGEN:98433"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116904","Source__c":"C0426970; MONDO:0016215","Xref__c":"C116904"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS612900","Source__c":"MONDO:0016215","Xref__c":"OMIMPS:612900"},{"URL__c":"https://www.orpha.net/en/disease/detail/210141","Source__c":"C0426970; MONDO:0016215","Xref__c":"ORPHA:210141"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A10970","Source__c":"MONDO:0016215","Xref__c":"DOID:10970"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016215","Source__c":"GARD:0017109","Xref__c":"MONDO:0016215"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002510","Source__c":"C0426970","Xref__c":"HP:0002510"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G80.0","Source__c":"MONDO:0016215","Xref__c":"G80.0"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KANK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ADD3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GAD1","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":["inherited congenital spastic quadriplegia"," inherited congenital spastic tetraplegia"," quadriplegic infantile cerebral palsy"," slowly progressive spastic quadriparesis"," spastic quadriplegia"," spastic tetraplegia"," spastic tetraplegia cerebral palsy"," tetraplegic infantile cerebral palsy"]}