Details of Disease

General Information of Disease (ID: DISPBIDE)

Disease Name Hereditary retinoblastoma
Synonyms retinoblastoma, trilateral, autosomal dominant, somatic mutation; RB1; familial retinoblastoma; retinoblastoma, autosomal dominant, somatic mutation; hereditary retinoblastoma
Definition
An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISVPNPB: Retinoblastoma
DISGXLG5: Hereditary neoplastic syndrome
DISPBIDE: Hereditary retinoblastoma
Disease Identifiers
MONDO ID
MONDO_0018160
MESH ID
D012175
UMLS CUI
C0751483
MedGen ID
155869
Orphanet ID
357027

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MYCN TT9JBY5 Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ESD OTUSIBPS Strong Biomarker [2]
RB1 OTQJUJMZ Definitive Autosomal dominant [3]
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References

1 Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.Lancet Oncol. 2013 Apr;14(4):327-34. doi: 10.1016/S1470-2045(13)70045-7. Epub 2013 Mar 13.
2 Esterase D: evaluation of a potential derived gene marker for hereditary retinoblastoma.Clin Chim Acta. 1988 Mar 31;173(1):81-7. doi: 10.1016/0009-8981(88)90358-0.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.