Retinoblastoma (RB) malady

NIH Rare Diseases:⁴² 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. last updated: 4/4/2012

MalaCards based summary: Retinoblastoma, also known as retinoblastomas, is related to osteosarcoma and breast cancer, and has symptoms including retinoblastoma, autosomal dominant inheritance and cleft palate. An important gene associated with Retinoblastoma is RB1 (retinoblastoma 1), and among its related pathways are MNAR-PELP1 and Estrogen Receptor Interaction and Inhibition of Ribosome Biogenesis by p14(ARF). The drug cyclophosphamide and the compounds butyrolactone i and dihydrofolate have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and breast, and related mouse phenotypes are respiratory system and liver/biliary system.

Disease Ontology:⁹ 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:²² 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.

OMIM:⁴⁶ Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood... (180200) more...

Wikipedia:⁶⁴ Retinoblastoma (Rb) is a rapidly developing cancer that develops from the immature cells of a retina,... more...

GeneReviews summary for retinoblastoma

External Ids:

Disease Ontology9 DOID:768 NCIt39 C7541, C6956 OMIM46 180200 MeSH34 D012175 SNOMED-CT56 19906005, 134191003, 154553002 189934006, 189935007, 370967009, 269614001, more

UMLS via Orphanet62 C0035335 MESH via Orphanet35 D012175 ICD10 via Orphanet27 C69.2 UMLS61 C0035335

Symptoms by clinical synopsis from OMIM:

180200

Clinical features from OMIM:

180200

Symptoms:

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retinoblastoma

autosomal dominant inheritance

HPO human phenotypes related to Retinoblastoma:

(show all 13)

id	Description	Frequency	HPO Source Accession
1	retinoblastoma	hallmark (90%)	HP:0009919
2	autosomal dominant inheritance		HP:0000006
3	cleft palate		HP:0000175
4	leukocoria		HP:0000555
5	somatic mutation		HP:0001428
6	leukemia		HP:0001909
7	lymphoma		HP:0002665
8	osteosarcoma		HP:0002669
9	sporadic		HP:0003745
10	retinal calcification		HP:0007862
11	vitreous hemorrhage		HP:0007902
12	retinoblastoma		HP:0009919
13	ewing's sarcoma		HP:0012254

Search GEO for disease gene expression data for Retinoblastoma.