{"Name":"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome","DiseaseID__c":"GARD:0004932","id":4932,"encodedName":"spastic-tetraplegia-retinitis-pigmentosa-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome","Xref_IDs__c":"C1849112; C564808; MEDGEN:376519; MONDO:0010051; OMIM:270950; ORPHA:3011","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":1,"Description_Source__c":"MONDO:0010051","Disease_Description__c":"A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.","GARD_Name__c":"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome","GARD_Synonym__c":"spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome; spastic quadriplegia, retinitis pigmentosa, and impaired intellectual development","Curated_Disease_Description_Source__c":"MONDO:0010051","Curated_Disease_Description__c":"A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3011","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010051","ORPHANET_ID__c":"ORPHA:3011","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de tetraplejía espástica-retinosis pigmentaria-discapacidad intelectual","Spanish_Description_Source__c":"ORPHA:3011","Spanish_Description__c":"Es un trastorno de discapacidad intelectual sindrómico, de origen genético y poco frecuente, caracterizado por la asociación de tetraparesia espástica no progresiva, retinosis pigmentaria, discapacidad intelectual y sordera de grado variable. No ha habido más casos descritos en la literatura desde 1976.","Spanish_Disease_Name__c":"síndrome de tetraplejía espástica-retinosis pigmentaria-discapacidad intelectual","Spanish_GARD_Synonym__c":"síndrome de cuadriplejía espástica-retinosis pigmentaria-discapacidad intelectual","Category_Linearization__c":"ORPHA:93890","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, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.","Curated_Disease_Description_Source__c":"MONDO:0010051","GARD_Synonym__c":"spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome; spastic quadriplegia, retinitis pigmentosa, and impaired intellectual development","Name":"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Retina International","Website__c":"https://retina-international.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"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":"Childhood","Provided_By__c":"ORPHA:3011"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564808","Source__c":"MONDO:0010051","Xref__c":"C564808"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849112","Source__c":"C1849112","Xref__c":"C1849112"},{"URL__c":"https://www.omim.org/entry/270950","Source__c":"C1849112; MONDO:0010051; ORPHA:3011","Xref__c":"OMIM:270950"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376519","Source__c":"C1849112","Xref__c":"MEDGEN:376519"},{"URL__c":"https://www.orpha.net/en/disease/detail/3011","Source__c":"C1849112; MONDO:0010051","Xref__c":"ORPHA:3011"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010051","Source__c":"GARD:0004932","Xref__c":"MONDO:0010051"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002187","HPO_Synonym__c":"Intellectual disability, profound; IQ less than 20; Mental retardation, profound; Profound mental retardation","HPO_Name__c":"Profound intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001141","HPO_Synonym__c":"Marked vision impairment; Severe reduction in visual acuity; Severe vision loss; Severe visual impairment; Severe visual loss; Severely impaired vision","HPO_Name__c":"Severely reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3011","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of sensorineural hearing impairment with infantile onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008610","HPO_Synonym__c":"Infantile sensorineural hearing loss","HPO_Name__c":"Infantile sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Retinal","Neurodevelopmental disabilities","Pediatrics"],"Account":["Retinal"]},"synonyms":["spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome"," spastic quadriplegia, retinitis pigmentosa, and impaired intellectual development"]}