{"Name":"Spastic paraplegia-glaucoma-intellectual disability syndrome","DiseaseID__c":"GARD:0004931","id":4931,"encodedName":"spastic-paraplegia-glaucoma-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spastic paraplegia-glaucoma-intellectual disability syndrome","Xref_IDs__c":"C1849113; C564809; MEDGEN:376520; MONDO:0010049; OMIM:270850; ORPHA:2818","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010049","Disease_Description__c":"Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.","GARD_Name__c":"Spastic paraplegia-glaucoma-intellectual disability syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Spastic paraplegia-glaucoma-intellectual disability syndrome is a rare genetic condition that affects movement, vision, and thinking. It has been found in two families, and in one of these families, the parents were related. The gene variant that causes this condition is inherited in an autosomal recessive manner. This means two copies of the gene variant, one from each parent, must be inherited to develop the condition. Symptoms of the condition include progressive stiffness and weakness in the legs, increased pressure in the eyes leading to vision loss, and intellectual disability.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:2818","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010049","ORPHANET_ID__c":"ORPHA:2818","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de paraplejía espástica-glaucoma-discapacidad intelectual","Spanish_Description_Source__c":"ORPHA:2818","Spanish_Description__c":"Es un síndrome caracterizado por paraparesia espástica progresiva, glaucoma y déficit intelectual. El síndrome se ha descrito en dos familias. La segunda fratría descrita nació de padres consanguíneos. El modo de herencia es autosómico dominante.","Spanish_Disease_Name__c":"síndrome de paraplejía espástica-glaucoma-discapacidad intelectual","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":"Spastic paraplegia-glaucoma-intellectual disability syndrome is a rare genetic condition that affects movement, vision, and thinking. It has been found in two families, and in one of these families, the parents were related. The gene variant that causes this condition is inherited in an autosomal recessive manner. This means two copies of the gene variant, one from each parent, must be inherited to develop the condition. Symptoms of the condition include progressive stiffness and weakness in the legs, increased pressure in the eyes leading to vision loss, and intellectual disability.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"Spastic paraplegia-glaucoma-intellectual disability syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.org/"},{"Account_Name__c":"BrightFocus Foundation","Website__c":"https://www.brightfocus.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":"Hereditary Spastic Paraplegia","Tag_Category__c":"Account","curated_tag_name":"Hereditary spastic paraplegia"},{"Tag_Name__c":"Glaucoma","Tag_Category__c":"Account","curated_tag_name":"Glaucoma"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2818"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849113","Source__c":"C1849113","Xref__c":"C1849113"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564809","Source__c":"MONDO:0010049","Xref__c":"C564809"},{"URL__c":"https://www.orpha.net/en/disease/detail/2818","Source__c":"C1849113; MONDO:0010049","Xref__c":"ORPHA:2818"},{"URL__c":"https://www.omim.org/entry/270850","Source__c":"C1849113; MONDO:0010049; ORPHA:2818","Xref__c":"OMIM:270850"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376520","Source__c":"C1849113","Xref__c":"MEDGEN:376520"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010049","Source__c":"GARD:0004931","Xref__c":"MONDO:0010049"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2818","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe or complete weakness of both lower extremities with sparing of the upper extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010550","HPO_Synonym__c":"Leg paralysis","HPO_Name__c":"Paraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2818","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2818","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2818","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Neurodevelopmental disabilities","Neuromuscular medicine"],"Account":["Hereditary Spastic Paraplegia","Glaucoma"]},"synonyms":[""]}