Details of Disease

General Information of Disease (ID: DISZR6ZN)

Disease Name Familial expansile osteolysis
Synonyms
EOF; polyostotic osteolytic dysplasia, hereditary expansile; osteolysis, familial expansile; FEO; expansile osteolysis, familial; Mccabe disease; HEPOD; hereditary expansile polyostotic osteolytic dysplasia; familial expansile osteolysis; McCabe disease
Disease Hierarchy
DISOTEY1: Primary osteolysis
DISZR6ZN: Familial expansile osteolysis
Disease Identifiers
MONDO ID
MONDO_0008275
MESH ID
C536335
UMLS CUI
C0432292
OMIM ID
174810
MedGen ID
96593
Orphanet ID
85195
SNOMED CT ID
254153009

Molecular Interaction Atlas (MIA) of This Disease

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

1 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.
2 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.