{"Name":"Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis","DiseaseID__c":"GARD:0009481","id":9481,"encodedName":"autosomal-dominant-polycystic-kidney-disease-type-1-with-tuberous-sclerosis","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis","Xref_IDs__c":"765331004; C177539; C1838327; C536328; MEDGEN:325000; MONDO:0010856; OMIM:600273; ORPHA:88924","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010856","Disease_Description__c":"A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).","GARD_Name__c":"Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis","GARD_Synonym__c":"chromosome 16p13.3 deletion syndrome, distal; pkdts; polycystic kidney disease, infantile severe, with tuberous sclerosis; tsc2/pkd1 contiguous gene syndrome; tuberous sclerosis, polycystic kidney disease contiguous gene syndrome; tuberous sclerosis/polycystic kidney disease contiguous gene syndrome","Curated_Disease_Description_Source__c":"MONDO:0010856","Curated_Disease_Description__c":"A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:88924","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010856","ORPHANET_ID__c":"ORPHA:88924","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad del riñón poliquístico autosómica dominante tipo 1 con esclerosis tuberosa","Spanish_Description_Source__c":"ORPHA:88924","Spanish_Description__c":"Es un síndrome poco frecuente de genes contiguos que implica una deleción parcial del cromosoma 16 y caracterizado por poliquistosis renal grave de aparición temprana con diversas manifestaciones de esclerosis tuberosa (angiomiolipomas múltiples, linfangioleiomiomatosis y calcificaciones periventriculares del sistema nervioso central).","Spanish_Disease_Name__c":"enfermedad del riñón poliquístico autosómica dominante tipo 1 con esclerosis tuberosa","Spanish_GARD_Synonym__c":"pkdts; síndrome de genes contiguos con esclerosis tuberosa/enfermedad renal poliquística; síndrome de genes contiguos tsc2/pkd1","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":"A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).","Curated_Disease_Description_Source__c":"MONDO:0010856","GARD_Synonym__c":"chromosome 16p13.3 deletion syndrome, distal; pkdts; polycystic kidney disease, infantile severe, with tuberous sclerosis; tsc2/pkd1 contiguous gene syndrome; tuberous sclerosis, polycystic kidney disease contiguous gene syndrome; tuberous sclerosis/polycystic kidney disease contiguous gene syndrome","Name":"Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"PKD- Free Alliance","Website__c":"https://www.pkdfree.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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:88924"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:88924"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:88924"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009481","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765331004","Source__c":"C1838327; MONDO:0010856","Xref__c":"765331004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536328","Source__c":"MONDO:0010856","Xref__c":"C536328"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325000","Source__c":"C1838327","Xref__c":"MEDGEN:325000"},{"URL__c":"https://www.omim.org/entry/600273","Source__c":"C1838327; MONDO:0010856; ORPHA:88924","Xref__c":"OMIM:600273"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838327","Source__c":"C1838327","Xref__c":"C1838327"},{"URL__c":"https://www.orpha.net/en/disease/detail/88924","Source__c":"C1838327; MONDO:0010856; ORPHA:88924","Xref__c":"ORPHA:88924"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C177539","Source__c":"C1838327","Xref__c":"C177539"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010856","Source__c":"GARD:0009481","Xref__c":"MONDO:0010856"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600273","Feature__r":{"HPO_Description__c":"The presence of multiple cysts in both kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000113","HPO_Synonym__c":"Polycystic kidneys","HPO_Name__c":"Polycystic kidney dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600273","Feature__r":{"HPO_Description__c":"Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009717","HPO_Name__c":"Cortical tubers","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600273","Feature__r":{"HPO_Description__c":"A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006772","HPO_Synonym__c":"Angiomyolipoma; Kidney angiomyolipoma","HPO_Name__c":"Renal angiomyolipoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly","Nephrology"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Pediatrics"]},"synonyms":["chromosome 16p13.3 deletion syndrome, distal"," pkdts"," polycystic kidney disease, infantile severe, with tuberous sclerosis"," tsc2/pkd1 contiguous gene syndrome"," tuberous sclerosis, polycystic kidney disease contiguous gene syndrome"," tuberous sclerosis/polycystic kidney disease contiguous gene syndrome"]}