Details of Disease

General Information of Disease (ID: DISFBRFO)

Disease Name Paget disease of bone 2, early-onset
Synonyms PDB2; Paget disease of bone 2, early-onset
Disease Hierarchy
DISIPS4V: Bone Paget disease
DISOTEY1: Primary osteolysis
DISFBRFO: Paget disease of bone 2, early-onset
Disease Identifiers
MONDO ID
MONDO_0011183
UMLS CUI
C4085251
OMIM ID
602080
MedGen ID
899166

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SQSTM1 TTOT2RY Limited CausalMutation [1]
TNFRSF11A TT3K9S2 Strong Autosomal dominant [2]
TNFRSF11A TT3K9S2 Strong Genetic Variation [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TNFRSF11A OT1FISGN Strong Autosomal dominant [2]
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References

1 Targeted next-generation sequencing assay for detection of mutations in primary myopathies.Neuromuscul Disord. 2016 Jan;26(1):7-15. doi: 10.1016/j.nmd.2015.10.003. Epub 2015 Nov 25.
2 Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet. 2000 Jan;24(1):45-8. doi: 10.1038/71667.
3 Dysosteosclerosis is also caused by TNFRSF11A mutation. J Hum Genet. 2018 Jun;63(6):769-774. doi: 10.1038/s10038-018-0447-6. Epub 2018 Mar 22.