Retinoblastoma

Preferred Label : Retinoblastoma;

Symbol : RB1;

CISMeF acronym : RB; RB1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RB;

Description : Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (189971) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Caused by mutation in the RB1 gene (RB1, 614041.0001);

Neoplasia : Osteogenic sarcoma; Pinealoma (trilateral retinoblastoma); Leukemia; Lymphoma; Ewing sarcoma;

Prefixed ID : #180200;

Details

Origin ID

180200;

UMLS CUI

C0035335;

Automatic exact mappings (from CISMeF team)
- NCI CTEP SDC Retinoblastoma Sub-Category Terminology [NCIt concept]
- RB transcriptional corepressor 1 [ORDO Gene]
- RB transcriptional corepressor 1 [HGNC gene]
- RB1 Gene [NCIt concept]
- RB1 Positive [NCIt concept]
- RB1 gene [LOINC component]
- RB1 wt Allele [NCIt concept]
- Retinoblastoma [ACR pathology]
- Retinoblastoma NOS [ICD-9 code]
- Retinoblastoma-Associated Protein [NCIt concept]
- Rubidium [NCIt concept]
- eye cancer [MedlinePlus Topic]
Currated CISMeF NLP mapping
- RETINOBLASTOMA [WHO-ART Preferred Term]
- Retinoblastoma [PASCAL descriptor]
- Retinoblastoma [ICD-11 Subcategory]
- Retinoblastoma [HPO term]
- Retinoblastoma [MedDRA Preferred Term]
- Retinoblastoma [NCIt concept]
- Retinoblastoma [ORDO Disease]
- Retinoblastoma [HRDO Sign]
- Retinoblastoma (disorder) [SNOMED CT concept]
- Retinoblastoma (morphologic abnormality) [SNOMED CT concept]
- Retinoblastoma NOS [MedDRA LLT]
- Retinoblastoma, NOS [ICD-O code]
- retinoblastoma [DO Concept]
- retinoblastoma [Disease (Nov.)]
- retinoblastoma [MeSH Descriptor]
- retinoblastoma [MeSH concept]
- retinoblastoma [Radlex concept]
- retinoblastoma, nos [SNOMED Notion]
DO Cross reference
- retinoblastoma [DO Concept]
Genes related to phenotype
- Rb transcriptional corepressor 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Ewing sarcoma [HPO term]
- Isolated cases [HPO term]
- Leukemia [HPO term]
- Leukocoria [HPO term]
- Lymphoma [HPO term]
- Osteosarcoma [HPO term]
- Pinealoma [HPO term]
- Retinal calcification [HPO term]
- Retinoblastoma [HPO term]
- Somatic mutation [HPO term]
- Sporadic [HPO term]
- Vitreous hemorrhage [HPO term]
- Vitritis [HPO term]
ORDO concept(s)
- Hereditary retinoblastoma [ORDO Disease]
- Non-hereditary retinoblastoma [ORDO Disease]
- Retinoblastoma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- RETINOBLASTOMA [WHO-ART Preferred Term]
- Retinal Neuroblastoma [NCIt concept]
- Retinoblastoma [HPO term]
- Retinoblastoma [MedDRA Preferred Term]
- Retinoblastoma [NCIt concept]
- Retinoblastoma [ORDO Disease]
- Retinoblastoma [HRDO Sign]
- Retinoblastoma [PASCAL descriptor]
- Retinoblastoma (disorder) [SNOMED CT concept]
- Retinoblastoma (morphologic abnormality) [SNOMED CT concept]
- Retinoblastoma NOS [MedDRA LLT]
- Retinoblastoma, NOS [ICD-O code]
- retinoblastoma [MeSH Descriptor]
- retinoblastoma [MeSH concept]
- retinoblastoma [Radlex concept]
- retinoblastoma [DO Concept]
- retinoblastoma [Disease (Nov.)]
- retinoblastoma, nos [SNOMED Notion]

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