Retinoblastoma (RB) malady

NIH Rare Diseases:³⁹ Retinoblastoma (rb) is a rare type of eye cancer in the retina that typically develops before the age of 5. it usually affects only one eye, but 1/3 of children with rb develop cancer in both eyes. the first sign is typically a visible whiteness in the pupil called "cat's eye reflex" or leukocoria, which is particularly noticeable in photographs taken with a flash. other signs and symptoms include strabismus; persistent eye pain, redness or irritation; and blindness or poor vision in the affected eye(s). retinoblastoma is caused by mutations in the rb1 gene. in about 60% of people with retinoblastoma, mutations are not inherited and occur only in retinal cells. in the other 40% of individuals, mutations are inherited from a parent in an autosomal dominant pattern and can be found in all body cells. retinoblastoma that is caused by an inherited mutation is called hereditary retinoblastoma. hereditary retinoblastoma usually occurs at a younger age than retinoblastoma that is not inherited (15 months vs. 24 months). retinoblastoma that occurs in only one eye is usually not inherited. retinoblastoma that occurs in both eyes is thought to be inherited.

MalaCards: Retinoblastoma, also known as RB, is related to breast cancer and melanoma, and has symptoms including retinoblastoma, autosomal dominant inheritance and intestinal/colonic anomaly. An important gene associated with Retinoblastoma is RB1 (retinoblastoma 1), and among its related pathways are Cell Cycle and E2F transcription factor network. The drugs cyclophosphamide and dactinomycin and the compounds polypropylene glycol and hpvs have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone marrow and brain, and related mouse phenotype tumorigenesis.

Disease Ontology:⁸ A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives from the tissues of the retina.

Genetics Home Reference:²⁰ 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.

Wikipedia:⁵⁹ Retinoblastoma (Rb) is a rapidly developing cancer that develops from the immature cells of a retina,... more...

OMIM:

GeneReviews summary for retinoblastoma

External Ids:

Disease Ontology8 DOID:768 NCIt36 C7541, C6956 OMIM43 180200 MeSH31 D012175 SNOMED-CT52 19906005, 189935007, 370967009 189934006, 134191003, 269614001, 154553002, more

MESH via Orphanet32 D012175 ICD10 via Orphanet24 C69.2 SNOMED-CT via Orphanet53 19906005, 370967009 UMLS via Orphanet57 C0035335 UMLS56 C0035335

Clinical features from OMIM:

Symptoms:

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retinoblastoma autosomal dominant inheritance intestinal/colonic anomaly structural anomalies of the cardio-circulatory system

hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies hydrocephaly polyhydramnios monozygotic twinning