{"Name":"Chromosome Xq28 duplication syndrome","DiseaseID__c":"GARD:0015266","id":15266,"encodedName":"chromosome-xq28-duplication-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Chromosome Xq28 duplication syndrome","Xref_IDs__c":"C2749007; C567580; MEDGEN:411727; MONDO:0010436; OMIM:300815","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:300815","Disease_Description__c":"A number sign (#) is used with this entry because this disorder is caused by copy number increase of a small region on distal chromosome Xq28. One report has identified a 0.3-Mb region of Xq28 (chrX:153.2-153.5 Mb, NCBI36) containing at least 11 genes and including the GDI1 gene ({300104}), which is mutated in MRX41 ({300849}). Two additional reports have identified a more distal 0.5-Mb region (chrX:153.7-154.2 Mb (NCBI36/hg19)) containing at least 8 genes and including the RAB39B gene ({300774}), which is mutated in MRX72 ({300271}).","GARD_Name__c":"Chromosome Xq28 duplication syndrome","GARD_Synonym__c":"xq28 duplication syndrome, int22h1/int22h2-mediated; xq28 recurrent microduplication syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Chromosome Xq28 duplication syndrome is a rare genetic condition. This syndrome is characterized by intellectual disability, neurobehavioral differences, and atypical facial features. The severity of the symptoms varies from person to person. Cognitive impairment is typically more severe in males. Males with the syndrome may also experience a unique combination of recurrent sinus and lung infections and allergies. Those symptoms are not usually seen in affected females. Most males with the syndrome have moderate to severe intellectual disability. Females may have milder intellectual symptoms or are unaffected. The syndrome is caused by the duplication of a specific region on the X chromosome. It is inherited in an X-linked pattern. Most individuals inherit the duplication from their mother who is often symptom-free. Some cases of new (de novo) duplications have been identified.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:300815","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010436","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Chromosome Xq28 duplication syndrome is a rare genetic condition. This syndrome is characterized by intellectual disability, neurobehavioral differences, and atypical facial features. The severity of the symptoms varies from person to person. Cognitive impairment is typically more severe in males. Males with the syndrome may also experience a unique combination of recurrent sinus and lung infections and allergies. Those symptoms are not usually seen in affected females. Most males with the syndrome have moderate to severe intellectual disability. Females may have milder intellectual symptoms or are unaffected. The syndrome is caused by the duplication of a specific region on the X chromosome. It is inherited in an X-linked pattern. Most individuals inherit the duplication from their mother who is often symptom-free. Some cases of new (de novo) duplications have been identified.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"xq28 duplication syndrome, int22h1/int22h2-mediated; xq28 recurrent microduplication syndrome","Name":"Chromosome Xq28 duplication syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK349624","Source__c":"Gene Review","Xref__c":"NBK349624"},{"URL__c":"https://www.omim.org/entry/300815","Source__c":"C2749007; MONDO:0010436","Xref__c":"OMIM:300815"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2749007","Source__c":"C2749007","Xref__c":"C2749007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567580","Source__c":"MONDO:0010436","Xref__c":"C567580"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=411727","Source__c":"C2749007","Xref__c":"MEDGEN:411727"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010436","Source__c":"GARD:0015266","Xref__c":"MONDO:0010436"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CLIC2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RAB39B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"tags":{"Specialist":["Neurodevelopmental disabilities"]},"synonyms":["xq28 duplication syndrome, int22h1/int22h2-mediated"," xq28 recurrent microduplication syndrome"]}