Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":2,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":4,"sourceGroups":{"omim":2,"orphanet":0,"published":2}},"features":[{"hpoId":"HP:0034401","label":"Atypical teratoid/rhabdoid tumor","primary":false},{"hpoId":"HP:0030392","label":"Choroid plexus carcinoma","primary":false},{"hpoId":"HP:0002885","label":"Medulloblastoma","primary":false},{"hpoId":"HP:0034402","label":"Rhabdoid tumor of the kidney","primary":false}],"ledeHtml":"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).","mondoId":"MONDO:0016473","records":[{"frequencyKind":"reported","key":"3fb85ed372eb1a3d3aa0f568607289115fedc6b086256aa5779dd47f11820b2d","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:609322","disease_name":"Rhabdoid tumor predisposition syndrome 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0030392","is_excluded":false,"label":"Choroid plexus carcinoma","onset_id":null,"reference":"OMIM:609322","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"54b02305e9b42407416b82b4ea540a13137b78c6994c835975b460cef2da1099","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:613325","disease_name":"Rhabdoid tumor predisposition syndrome 2","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0034401","is_excluded":false,"label":"Atypical teratoid/rhabdoid tumor","onset_id":null,"reference":"PMID:10739764","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7edb969908c9da7c61aa5b5ca984bb4ca8475915f48a9ffaa785c83ed10f8e67","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:613325","disease_name":"Rhabdoid tumor predisposition syndrome 2","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0034402","is_excluded":false,"label":"Rhabdoid tumor of the kidney","onset_id":null,"reference":"PMID:10739764","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"da9bba8af2c1595b351a7602451bcc137dc9281e57fb43bc49fdc6baa8599092","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:609322","disease_name":"Rhabdoid tumor predisposition syndrome 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002885","is_excluded":false,"label":"Medulloblastoma","onset_id":null,"reference":"OMIM:609322","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"In 85 to 95 percent of affected individuals, RTPS is caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. These genes provide instructions for making proteins that form pieces (subunits) of several different protein groups called SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed.
Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells. Through these processes, the proteins produced from the SMARCB1 and SMARCA4 genes, as well as other SWI/SNF subunits, are thought to act as tumor suppressors, which keep cells from growing and dividing too rapidly or in an uncontrolled way.
RTPS is caused by a mutation in the SMARCB1 or SMARCA4 gene that is present in cells throughout the body (called a germline mutation). An additional genetic change that deletes the normal copy of the gene is needed for a tumor to develop. This additional change is acquired during a person's lifetime and is present only in the cancerous cells. Such changes are known as somatic mutations. In combination, the germline and somatic mutations lead to the absence or dysfunction of the protein produced from the SMARCB1 or SMARCA4 gene. This deficiency likely impairs the tumor suppressor function of the proteins, but the specific mechanism that leads to rhabdoid tumors is unknown.
","key":"forms","title":"What causes Rhabdoid tumor predisposition syndrome?"},{"bodyHtml":"Rhabdoid 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.
More 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).
Rhabdoid 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.
Tumors 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).
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"rhabdoid-tumor-predisposition-syndrome","sourceDocuments":[{"name":"Rhabdoid tumor predisposition syndrome","reviewed":"2018-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:44.503012+00:00","label":"Causes","pageSha256":"4685b866b3be3d503d854d9aa29ce7d92db971958150f7945ddc069f73cf3578","sourceUrl":"https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Rhabdoid tumor predisposition syndrome"},"schemaVersion":1}