{"Name":"Infantile choroidocerebral calcification syndrome","DiseaseID__c":"GARD:0001313","id":1313,"encodedName":"infantile-choroidocerebral-calcification-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Infantile choroidocerebral calcification syndrome","Xref_IDs__c":"724228005; C1859092; C535357; MEDGEN:395174; MONDO:0008981; OMIM:215480; ORPHA:1313","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008981","Disease_Description__c":"A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.","GARD_Name__c":"Infantile choroidocerebral calcification syndrome","GARD_Synonym__c":"choroid plexus calcification and impaired intellectual development; choroido-cerebral calcification syndrome with retardation","Curated_Disease_Description_Source__c":"MONDO:0008981","Curated_Disease_Description__c":"A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.","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:1313","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008981","ORPHANET_ID__c":"ORPHA:1313","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de calcificación del plexo coroideo infantil","Spanish_Description_Source__c":"ORPHA:1313","Spanish_Description__c":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por discapacidad intelectual grave y calcificación del plexo coroideo, asociada a una concentración elevada de proteínas en el líquido cefalorraquídeo. Los signos y síntomas adicionales incluyen estrabismo, aumento de los reflejos tendinosos profundos y deformidades del pie, entre otros. No ha habido más descripciones en la literatura desde 1993.","Spanish_Disease_Name__c":"síndrome de calcificación del plexo coroideo infantil","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 syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.","Curated_Disease_Description_Source__c":"MONDO:0008981","GARD_Synonym__c":"choroid plexus calcification and impaired intellectual development; choroido-cerebral calcification syndrome with retardation","Name":"Infantile choroidocerebral calcification syndrome","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1313"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1313"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/215480","Source__c":"C1859092; MONDO:0008981; ORPHA:1313","Xref__c":"OMIM:215480"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724228005","Source__c":"C1859092; MONDO:0008981","Xref__c":"724228005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535357","Source__c":"MONDO:0008981","Xref__c":"C535357"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395174","Source__c":"C1859092","Xref__c":"MEDGEN:395174"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859092","Source__c":"C1859092","Xref__c":"C1859092"},{"URL__c":"https://www.orpha.net/en/disease/detail/1313","Source__c":"C1859092; MONDO:0008981; ORPHA:1313","Xref__c":"ORPHA:1313"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008981","Source__c":"GARD:0001313","Xref__c":"MONDO:0008981"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1313","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["choroid plexus calcification and impaired intellectual development"," choroido-cerebral calcification syndrome with retardation"]}