{"Name":"X-linked intellectual disability-retinitis pigmentosa syndrome","DiseaseID__c":"GARD:0008360","id":8360,"encodedName":"x-linked-intellectual-disability-retinitis-pigmentosa-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked intellectual disability-retinitis pigmentosa syndrome","Xref_IDs__c":"719808002; C1845136; MEDGEN:336862; MONDO:0010364; OMIM:300578; ORPHA:85332","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010364","Disease_Description__c":"X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.","GARD_Name__c":"X-linked intellectual disability-retinitis pigmentosa syndrome","GARD_Synonym__c":"aldred syndrome; chromosome xp11.3 deletion syndrome; chromosome xp11.3 deletion syndrome, x-linked recessive; retinitis pigmentosa and intellectual disability due to del(x)(p11.3); retinitis pigmentosa and intellectual disability due to monosomy xp11.3; retinitis pigmentosa and intellectual disability due to xp11.3 microdeletion; xp11.3 deletion syndrome","Curated_Disease_Description_Source__c":"MONDO:0010364","Curated_Disease_Description__c":"X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:85332","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010364","ORPHANET_ID__c":"ORPHA:85332","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de discapacidad intelectual-retinosis pigmentaria ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:85332","Spanish_Description__c":"Es un síndrome caracterizado por un déficit intelectual moderado y retinitis pigmentosa grave de aparición temprana. Se ha descrito en cinco varones de tres generaciones de una misma familia. Algunos pacientes también presentaron microcefalia. Se transmite como un rasgo recesivo ligado al cromosoma X.","Spanish_Disease_Name__c":"síndrome de discapacidad intelectual-retinosis pigmentaria ligado al cromosoma x","Spanish_GARD_Synonym__c":"retinosis pigmentaria y discapacidad intelectual por del(x)(p11.3); retinosis pigmentaria y discapacidad intelectual por microdeleción xp11.3; retinosis pigmentaria y discapacidad intelectual por monosomía xp11.3; síndrome de aldred","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":"X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.","Curated_Disease_Description_Source__c":"MONDO:0010364","GARD_Synonym__c":"aldred syndrome; chromosome xp11.3 deletion syndrome; chromosome xp11.3 deletion syndrome, x-linked recessive; retinitis pigmentosa and intellectual disability due to del(x)(p11.3); retinitis pigmentosa and intellectual disability due to monosomy xp11.3; retinitis pigmentosa and intellectual disability due to xp11.3 microdeletion; xp11.3 deletion syndrome","Name":"X-linked intellectual disability-retinitis pigmentosa 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":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Infancy","Provided_By__c":"ORPHA:85332"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:85332"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:85332"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336862","Source__c":"C1845136","Xref__c":"MEDGEN:336862"},{"URL__c":"https://www.omim.org/entry/300578","Source__c":"C1845136; MONDO:0010364; ORPHA:85332","Xref__c":"OMIM:300578"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845136","Source__c":"C1845136","Xref__c":"C1845136"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719808002","Source__c":"MONDO:0010364","Xref__c":"719808002"},{"URL__c":"https://www.orpha.net/en/disease/detail/85332","Source__c":"C1845136; MONDO:0010364","Xref__c":"ORPHA:85332"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010364","Source__c":"GARD:0008360","Xref__c":"MONDO:0010364"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85332","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"}},{"Provided_By__c":"ORPHA:85332","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007730","HPO_Synonym__c":"Light eye color; Reduced iris pigmentation","HPO_Name__c":"Iris hypopigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly","Retinal"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Retinal","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["aldred syndrome"," chromosome xp11.3 deletion syndrome"," chromosome xp11.3 deletion syndrome, x-linked recessive"," retinitis pigmentosa and intellectual disability due to del(x)(p11.3)"," retinitis pigmentosa and intellectual disability due to monosomy xp11.3"," retinitis pigmentosa and intellectual disability due to xp11.3 microdeletion"," xp11.3 deletion syndrome"]}