{"Name":"Simpson-Golabi-Behmel syndrome type 1","DiseaseID__c":"GARD:0025185","id":25185,"encodedName":"simpson-golabi-behmel-syndrome-type-1","IsDeleted":false,"Disease_Name_Full__c":"Simpson-Golabi-Behmel syndrome type 1","Xref_IDs__c":"C0796154; C118787; DOID:0060248; MEDGEN:162917; MONDO:0020602; NBK1219","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020602","Disease_Description__c":"Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.","GARD_Name__c":"Simpson-Golabi-Behmel syndrome type 1","GARD_Synonym__c":"dgsx golabi-rosen syndrome; dysplasia gigantism syndrome, x-linked; gpc3 simpson-golabi-behmel syndrome; gpc3-related simpson-golabi-behmel syndrome type 1; sgbs1; simpson-golabi-behmel syndrome caused by mutation in gpc3; simpson-golabi-behmel syndrome, type 1, x-linked recessive","Curated_Disease_Description_Source__c":"MONDO:0020602","Curated_Disease_Description__c":"Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal issues. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020602","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":"Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal issues. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.","Curated_Disease_Description_Source__c":"MONDO:0020602","GARD_Synonym__c":"dgsx golabi-rosen syndrome; dysplasia gigantism syndrome, x-linked; gpc3 simpson-golabi-behmel syndrome; gpc3-related simpson-golabi-behmel syndrome type 1; sgbs1; simpson-golabi-behmel syndrome caused by mutation in gpc3; simpson-golabi-behmel syndrome, type 1, x-linked recessive","Name":"Simpson-Golabi-Behmel syndrome type 1","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796154","Source__c":"C0796154","Xref__c":"C0796154"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060248","Source__c":"MONDO:0020602","Xref__c":"DOID:0060248"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=162917","Source__c":"C0796154","Xref__c":"MEDGEN:162917"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118787","Source__c":"C0796154","Xref__c":"C118787"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020602","Source__c":"GARD:0025185","Xref__c":"MONDO:0020602"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1219","Source__c":"Gene Review","Xref__c":"NBK1219"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GPC3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gpc3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GPC4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["dgsx golabi-rosen syndrome"," dysplasia gigantism syndrome, x-linked"," gpc3 simpson-golabi-behmel syndrome"," gpc3-related simpson-golabi-behmel syndrome type 1"," sgbs1"," simpson-golabi-behmel syndrome caused by mutation in gpc3"," simpson-golabi-behmel syndrome, type 1, x-linked recessive"]}