{"Name":"Panhypopituitarism, X-linked","DiseaseID__c":"GARD:0006737","id":6737,"encodedName":"panhypopituitarism-x-linked","IsDeleted":false,"Disease_Name_Full__c":"Panhypopituitarism, X-linked","Xref_IDs__c":"237683004; C0342376; C538613; DOID:0111779; MEDGEN:87439; MONDO:0010712; OMIM:312000","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:312000","Disease_Description__c":"A number sign (#) is used with this entry because some cases of X-linked panhypopituitarism are associated with duplications in the SOX3 gene ({313430}).\\n\\nX-linked mental retardation with pituitary deficiency ({300123}) is an allelic disorder with an overlapping phenotype.\\n\\nSee also X-linked hypogammaglobulinemia and isolated growth hormone deficiency ({307200}) and autosomal panhypopituitarism ({262600}).","GARD_Name__c":"Panhypopituitarism, X-linked","GARD_Synonym__c":"panhypopituitarism - x-linked; phpx; pituitary dwarfism iv; x-linked panhypopituitarism","Curated_Disease_Description_Source__c":"OMIM:312000","Curated_Disease_Description__c":"X-linked panhypopituitarism is associated with duplications in the SOX3 gene in some cases. X-linked intellectual disability with pituitary deficiency is an allelic disorder with an overlapping phenotype.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:312000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010712","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":"X-linked panhypopituitarism is associated with duplications in the SOX3 gene in some cases. X-linked intellectual disability with pituitary deficiency is an allelic disorder with an overlapping phenotype.","Curated_Disease_Description_Source__c":"OMIM:312000","GARD_Synonym__c":"panhypopituitarism - x-linked; phpx; pituitary dwarfism iv; x-linked panhypopituitarism","Name":"Panhypopituitarism, X-linked","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"HypoPARAthyroidism Association, Inc.","Website__c":"https://hypopara.org/"},{"Account_Name__c":"Adrenal Insufficiency United","Website__c":"https://aiunited.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006737","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111779","Source__c":"MONDO:0010712","Xref__c":"DOID:0111779"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237683004","Source__c":"C0342376; MONDO:0010712","Xref__c":"237683004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87439","Source__c":"C0342376","Xref__c":"MEDGEN:87439"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342376","Source__c":"C0342376","Xref__c":"C0342376"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538613","Source__c":"MONDO:0010712","Xref__c":"C538613"},{"URL__c":"https://www.omim.org/entry/312000","Source__c":"C0342376; MONDO:0010712","Xref__c":"OMIM:312000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010712","Source__c":"GARD:0006737","Xref__c":"MONDO:0010712"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SOX3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:312000","Feature__r":{"HPO_Description__c":"A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000839","HPO_Name__c":"Pituitary dwarfism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:312000","Feature__r":{"HPO_Description__c":"A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000871","HPO_Name__c":"Panhypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["panhypopituitarism - x-linked"," phpx"," pituitary dwarfism iv"," x-linked panhypopituitarism"]}