{"Name":"X-linked intellectual disability-seizures-psoriasis syndrome","DiseaseID__c":"GARD:0005238","id":5238,"encodedName":"x-linked-intellectual-disability-seizures-psoriasis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked intellectual disability-seizures-psoriasis syndrome","Xref_IDs__c":"719810000; C3501539; C536978; MEDGEN:501947; MONDO:0010652; OMIM:309480; ORPHA:3052","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010652","Disease_Description__c":"A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.","GARD_Name__c":"X-linked intellectual disability-seizures-psoriasis syndrome","GARD_Synonym__c":"tranebjaerg-svejgaard syndrome","Curated_Disease_Description_Source__c":"GARD:0005238","Curated_Disease_Description__c":"X-linked intellectual disability-seizures-psoriasis syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner.","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:3052","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010652","ORPHANET_ID__c":"ORPHA:3052","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de discapacidad intelectual-crisis-psoriasis ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:3052","Spanish_Description__c":"Es un trastorno sindrómico poco frecuente de discapacidad intelectual ligado al cromosoma X y caracterizado por una grave discapacidad intelectual, retraso del desarrollo psicomotor, crisis epilépticas generalizadas y psoriasis. También se asocia leve dismorfia craneofacial, que incluye hipertelorismo, puente nasal ancho, narinas antevertidas, macrostomía, paladar ojival y pabellones auriculares grandes. No ha habido más casos descritos en la literatura desde 1988.","Spanish_Disease_Name__c":"síndrome de discapacidad intelectual-crisis-psoriasis ligado al cromosoma x","Spanish_GARD_Synonym__c":"síndrome de tranebjaerg-svejgaard","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-seizures-psoriasis syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner.","Curated_Disease_Description_Source__c":"GARD:0005238","GARD_Synonym__c":"tranebjaerg-svejgaard syndrome","Name":"X-linked intellectual disability-seizures-psoriasis 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":"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":"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":"Infancy","Provided_By__c":"ORPHA:3052"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3052"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/309480","Source__c":"C3501539; MONDO:0010652; ORPHA:3052","Xref__c":"OMIM:309480"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3501539","Source__c":"C3501539","Xref__c":"C3501539"},{"URL__c":"https://www.orpha.net/en/disease/detail/3052","Source__c":"C3501539; MONDO:0010652","Xref__c":"ORPHA:3052"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719810000","Source__c":"MONDO:0010652","Xref__c":"719810000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536978","Source__c":"MONDO:0010652","Xref__c":"C536978"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501947","Source__c":"C3501539","Xref__c":"MEDGEN:501947"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010652","Source__c":"GARD:0005238","Xref__c":"MONDO:0010652"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3052","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003765","HPO_Synonym__c":"Psoriasis","HPO_Name__c":"Psoriasiform dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3052","HPO_Frequency__c":"Frequent (30-79%)","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:3052","HPO_Frequency__c":"Frequent (30-79%)","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:3052","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An increased level of iduronate-2-sulfatase activity in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003538","HPO_Synonym__c":"Increased serum iduronate sulfatase level","HPO_Name__c":"Increased iduronate sulfatase level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3052","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["tranebjaerg-svejgaard syndrome"]}