Rare Cardiology News

Disease Profile

Rhabdoid tumor

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Antenatal

ICD-10

C49.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Rhabdoid sarcoma; Malignant rhabdoid tumor; RHABDOID TUMOR PREDISPOSITION SYNDROME 1;

Categories

Nervous System Diseases; Rare Cancers

Summary

Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdominal mass, peripheral nerve palsy). In about 90% of cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene. In rare cases, it may be caused by a mutation in the SMARCA4 gene. No standard care exists for RT, although there are many ongoing studies. Treatment includes resection of the tumor mass and chemotherapy and radiotherapy. Because atypical teratoid rhabdoid tumors and rhabdoid tumors of the kidney have the same gene mutation and similar biopsy findings, they are now considered identical or closely related entities. Also, 10-15% of patients with malignant rhabdoid tumors have brain tumors.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Cerebral palsy
0100021
Cranial nerve paralysis
0006824
Fever
0001945
Headache
Headaches
0002315
Hematuria
Blood in urine
0000790
Hypertension
0000822
Internal hemorrhage
Internal bleeding
0011029
Irritability
Irritable
0000737
Lymphadenopathy
Swollen lymph nodes
0002716
Nausea and vomiting
0002017
Neoplasm of the central nervous system
Tumors of the central nervous system
0100006
Neoplasm of the liver
Liver cancer
Liver tumor

[ more ]

0002896
Oculomotor nerve palsy
0012246
Poor appetite
Decreased appetite
0004396
Renal neoplasm
Renal tumors
0009726
Respiratory insufficiency
Respiratory impairment
0002093
Sarcoma
Cancer of connective tissue
Malignant connective tissue tumor

[ more ]

0100242
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
Weight loss
0001824
5%-29% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Hemiplegia
Paralysis on one side of body
0002301
Hypercalcemia
High blood calcium levels
Increased calcium in blood

[ more ]

0003072
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Carcinoma
0030731
Choroid plexus carcinoma
0030392
Medulloblastoma
0002885

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Online Mendelian Inheritance in Man (OMIM)
    Online Mendelian Inheritance in Man (OMIM)
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Geller JI. Malignant Rhabdoid Tumor. Medscape Reference. December 5, 2014; https://emedicine.medscape.com/article/993084-overview.