{"Name":"Rhabdoid tumor predisposition syndrome","DiseaseID__c":"GARD:0017159","id":17159,"encodedName":"rhabdoid-tumor-predisposition-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Rhabdoid tumor predisposition syndrome","Xref_IDs__c":"772130002; C2985524; C93268; DOID:0070617; MEDGEN:457750; MONDO:0016473; NBK469816; OMIMPS:609322; ORPHA:231108","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":4,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016473","Disease_Description__c":"A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.","GARD_Name__c":"Rhabdoid tumor predisposition syndrome","GARD_Synonym__c":"familial posterior fossa brain tumor syndrome of infancy; familial posterior fossa brain tumour syndrome of infancy; familial rhabdoid tumor; hereditary rhabdoid tumor; hereditary rhabdoid tumour; rhabdoid predisposition syndrome; rhabdoid tumour predisposition syndrome; rtps","Curated_Disease_Description_Source__c":"MONDO:0016473","Curated_Disease_Description__c":"Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors. These highly aggressive tumors are called rhabdoid because their cells resemble rhabdomyoblasts, which are cells that are normally found in embryos before birth and develop into muscles used for movement (skeletal muscles).\r\n\r\nRhabdoid tumors are rare in the general population. They usually occur in the first year of life, and are much less likely to appear after age 4. In people with RTPS, the tumors occur at an average age of 4 to 7 months, and can even occur before birth. Affected individuals may have multifocal synchronous tumors, which means that multiple tumors that develop independently (primary tumors) occur at the same time. The rhabdoid tumors that occur in RTPS usually grow and spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood.\r\n\r\nMore than half of all malignant rhabdoid tumors (MRTs) develop in the cerebellum, which is the part of the brain that coordinates movement. Rhabdoid tumors in the brain and spinal cord (central nervous system) are called atypical teratoid/rhabdoid tumors (AT/RTs).\r\n\r\nRhabdoid tumors also occur outside the central nervous system. These tumors include rhabdoid tumors of the kidneys (RTKs) and tumors that develop in other organs and tissues of the body (called extrarenal malignant rhabdoid tumors or eMRTs). The type of rhabdoid tumor can vary among individuals with RTPS, even within the same family.\r\n\r\nTumors other than rhabdoid tumors can also occur in people with RTPS. Some affected children develop noncancerous (benign) tumors called schwannomas, which grow on nerve cells. Women with RTPS are at increased risk of developing a rare type of ovarian cancer called small cell cancer of the ovary hypercalcemic type (SCCOHT).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:231108","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016473","ORPHANET_ID__c":"ORPHA:231108","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tumor rabdoide familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"tumor rabdoide familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","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":"Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors. These highly aggressive tumors are called rhabdoid because their cells resemble rhabdomyoblasts, which are cells that are normally found in embryos before birth and develop into muscles used for movement (skeletal muscles).\r\n\r\nRhabdoid tumors are rare in the general population. They usually occur in the first year of life, and are much less likely to appear after age 4. In people with RTPS, the tumors occur at an average age of 4 to 7 months, and can even occur before birth. Affected individuals may have multifocal synchronous tumors, which means that multiple tumors that develop independently (primary tumors) occur at the same time. The rhabdoid tumors that occur in RTPS usually grow and spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood.\r\n\r\nMore than half of all malignant rhabdoid tumors (MRTs) develop in the cerebellum, which is the part of the brain that coordinates movement. Rhabdoid tumors in the brain and spinal cord (central nervous system) are called atypical teratoid/rhabdoid tumors (AT/RTs).\r\n\r\nRhabdoid tumors also occur outside the central nervous system. These tumors include rhabdoid tumors of the kidneys (RTKs) and tumors that develop in other organs and tissues of the body (called extrarenal malignant rhabdoid tumors or eMRTs). The type of rhabdoid tumor can vary among individuals with RTPS, even within the same family.\r\n\r\nTumors other than rhabdoid tumors can also occur in people with RTPS. Some affected children develop noncancerous (benign) tumors called schwannomas, which grow on nerve cells. Women with RTPS are at increased risk of developing a rare type of ovarian cancer called small cell cancer of the ovary hypercalcemic type (SCCOHT).","Curated_Disease_Description_Source__c":"MONDO:0016473","GARD_Synonym__c":"familial posterior fossa brain tumor syndrome of infancy; familial posterior fossa brain tumour syndrome of infancy; familial rhabdoid tumor; hereditary rhabdoid tumor; hereditary rhabdoid tumour; rhabdoid predisposition syndrome; rhabdoid tumour predisposition syndrome; rtps","Name":"Rhabdoid tumor predisposition syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:231108"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK469816","Source__c":"Gene Review","Xref__c":"NBK469816"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=457750","Source__c":"C2985524","Xref__c":"MEDGEN:457750"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2985524","Source__c":"C2985524","Xref__c":"C2985524"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS609322","Source__c":"MONDO:0016473","Xref__c":"OMIMPS:609322"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C93268","Source__c":"C2985524; MONDO:0016473","Xref__c":"C93268"},{"URL__c":"https://www.orpha.net/en/disease/detail/231108","Source__c":"C2985524; MONDO:0016473; ORPHA:231108","Xref__c":"ORPHA:231108"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=772130002","Source__c":"C2985524","Xref__c":"772130002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016473","Source__c":"GARD:0017159","Xref__c":"MONDO:0016473"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070617","Source__c":"MONDO:0016473","Xref__c":"DOID:0070617"},{"URL__c":"https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome"},{"URL__c":"https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome","Source__c":"GARD:0017159","Xref__c":"https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SMARCB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/smarcb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SMARCA4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/smarca4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Pediatrics"],"Disease Category":["Cancer","Genetics"],"Cause":["Genetics"]},"synonyms":["familial posterior fossa brain tumor syndrome of infancy"," familial posterior fossa brain tumour syndrome of infancy"," familial rhabdoid tumor"," hereditary rhabdoid tumor"," hereditary rhabdoid tumour"," rhabdoid predisposition syndrome"," rhabdoid tumour predisposition syndrome"," rtps"]}