{"Name":"Retinoblastoma","DiseaseID__c":"GARD:0007563","id":7563,"encodedName":"retinoblastoma","IsDeleted":false,"Disease_Name_Full__c":"Retinoblastoma","Xref_IDs__c":"19906005; 370967009; C0035335; C7541; D012175; DOID:768; HP:0009919; MEDGEN:20552; MONDO:0008380; NBK1452; ORPHA:790","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":4,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":6,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008380","Disease_Description__c":"A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.","GARD_Name__c":"Retinoblastoma","GARD_Synonym__c":"rb; rb - retinoblastoma; rb1; retina tumor; retina tumour; retinoblastoma - morphology; retinoblastoma, malignant; retinoblastoma, somatic","Curated_Disease_Description_Source__c":"GARD:0007563","Curated_Disease_Description__c":"Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color. In children with retinoblastoma, the disease often affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called 'cat's eye reflex' or leukocoria. This unusual whiteness is particularly noticeable in dim light or in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus), which can cause squinting; a change in the color of the colored part of the eye (iris); redness, soreness, or swelling of the eyelids; and blindness or poor vision in the affected eye or eyes. Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening. When retinoblastoma is associated with a genetic change (mutation) that occurs in all of the body's cells, it is known as hereditary (or germinal) retinoblastoma. People with this form of retinoblastoma typically develop cancer in both eyes and also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pineoblastoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues (such as muscle) called soft tissue sarcomas, and an aggressive form of skin cancer called melanoma.","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:790","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008380","ORPHANET_ID__c":"ORPHA:790","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Retinoblastoma","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"retinoblastoma","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":"Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and color. In children with retinoblastoma, the disease often affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called 'cat's eye reflex' or leukocoria. This unusual whiteness is particularly noticeable in dim light or in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus), which can cause squinting; a change in the color of the colored part of the eye (iris); redness, soreness, or swelling of the eyelids; and blindness or poor vision in the affected eye or eyes. Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening. When retinoblastoma is associated with a genetic change (mutation) that occurs in all of the body's cells, it is known as hereditary (or germinal) retinoblastoma. People with this form of retinoblastoma typically develop cancer in both eyes and also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pineoblastoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues (such as muscle) called soft tissue sarcomas, and an aggressive form of skin cancer called melanoma.","Curated_Disease_Description_Source__c":"GARD:0007563","GARD_Synonym__c":"rb; rb - retinoblastoma; rb1; retina tumor; retina tumour; retinoblastoma - morphology; retinoblastoma, malignant; retinoblastoma, somatic","Name":"Retinoblastoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"A Cure In Sight","Website__c":"https://acureinsight.org/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:790"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:790"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:790"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0035335"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1452","Source__c":"Gene Review","Xref__c":"NBK1452"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7541","Source__c":"C0035335; MONDO:0008380","Xref__c":"C7541"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=370967009","Source__c":"C0035335; MONDO:0008380","Xref__c":"370967009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012175","Source__c":"C0035335; MONDO:0008380","Xref__c":"D012175"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=20552","Source__c":"C0035335","Xref__c":"MEDGEN:20552"},{"URL__c":"https://www.orpha.net/en/disease/detail/790","Source__c":"C0035335; MONDO:0008380; ORPHA:790","Xref__c":"ORPHA:790"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0035335","Source__c":"C0035335","Xref__c":"C0035335"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A768","Source__c":"MONDO:0008380","Xref__c":"DOID:768"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=19906005","Source__c":"C0035335","Xref__c":"19906005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008380","Source__c":"GARD:0007563","Xref__c":"MONDO:0008380"},{"URL__c":"https://medlineplus.gov/genetics/condition/retinoblastoma","Source__c":"GARD:0007563","Xref__c":"https://medlineplus.gov/genetics/condition/retinoblastoma"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0009919","Source__c":"C0035335","Xref__c":"HP:0009919"},{"URL__c":"https://www.cancer.gov/types/retinoblastoma"},{"URL__c":"https://www.cancer.gov/types/retinoblastoma/patient/retinoblastoma-treatment-pdq"},{"URL__c":"https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/retinoblastoma"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031615","HPO_Name__c":"Hypopyon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of one or all portions of the uveal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000554","HPO_Name__c":"Uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the globe of the eye, or bulbus oculi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012372","HPO_Synonym__c":"Abnormal eye structure; Abnormality of the globe; Abnormally shaped eye","HPO_Name__c":"Abnormal eye morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch membrane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025244","HPO_Synonym__c":"Sub-RPE hemorrhage; Subretinal pigment epithelium hemorrhage","HPO_Name__c":"Sub-retinal pigment epithelium haemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012254","HPO_Synonym__c":"Ewing's sarcoma","HPO_Name__c":"Ewing sarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A tumor of the eye originating from cells of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009919","HPO_Name__c":"Retinoblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding within the vitreous compartment of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007902","HPO_Name__c":"Vitreous hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bacterial infection and inflammation of the skin und subcutaneous tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100658","HPO_Synonym__c":"Bacterial infection of skin; Skin infection","HPO_Name__c":"Cellulitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100243","HPO_Name__c":"Leiomyosarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002669","HPO_Synonym__c":"Bone cell cancer; Osteogenic sarcoma","HPO_Name__c":"Osteosarcoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pineoblastoma is a rare primitive neuroectodermal tumor (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumor and comprise one-fourth to one-half of pineal parenchymal tumors. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030408","HPO_Synonym__c":"Pinealoblastoma","HPO_Name__c":"Pineoblastoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002859","HPO_Name__c":"Rhabdomyosarcoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal white reflection from the pupil rather than the usual black reflection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000555","HPO_Synonym__c":"Leukokoria; White pupillary reflex","HPO_Name__c":"Leukocoria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001909","HPO_Name__c":"Leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002665","HPO_Synonym__c":"Cancer of lymphatic system","HPO_Name__c":"Lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002861","HPO_Synonym__c":"Malignant melanoma","HPO_Name__c":"Melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025337","HPO_Synonym__c":"Red eye; Red eyes","HPO_Name__c":"Red eye","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding in the anterior chamber of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011886","HPO_Name__c":"Hyphema","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009733","HPO_Name__c":"Glioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:790","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007862","HPO_Name__c":"Retinal calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Ophthalmology","Retinal","Pediatrics"],"Disease Category":["Cancer"],"Account":["Retinal"]},"synonyms":["rb"," rb - retinoblastoma"," rb1"," retina tumor"," retina tumour"," retinoblastoma - morphology"," retinoblastoma, malignant"," retinoblastoma, somatic"]}