KEGG   DISEASE: Familial expansile osteolysis
Entry
H02042                      Disease                                

Name
Familial expansile osteolysis
Description
Familial expansile osteolysis (FEO) is a rare autosomal dominant disorder causing bone dysplasia. It is characterized by increased osteoclast activity, medullary expansion, and hearing and dental problems. The mutations in the TNFRSF11A gene encoding RANK have been identified. FEO is similar in some respects to Paget's disease but distinct enough in its clinical, radiological and histological findings to be classified as a separate disease.
Category
Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H02042  Familial expansile osteolysis
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB86  Disorders associated with bone growth
    H02042  Familial expansile osteolysis
Pathway
hsa04064  NF-kappa B signaling pathway
hsa04380  Osteoclast differentiation
Gene
TNFRSF11A [HSA:8792] [KO:K05147]
Other DBs
ICD-11: FB86.2
ICD-10: M89.5
MeSH: C536335
OMIM: 174810
Reference
  Authors
Elahi E, Shafaghati Y, Asadi S, Absalan F, Goodarzi H, Gharaii N, Karimi-Nejad MH, Shahram F, Hughes AE
  Title
Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.
  Journal
J Bone Miner Metab 25:159-64 (2007)
DOI:10.1007/s00774-007-0748-x
Reference
  Authors
Topham DG, Sampson MJ
  Title
Familial expansile osteolysis: An Australian case report of a Paget's Disease Mimic.
  Journal
J Med Imaging Radiat Oncol 60:370-3 (2016)
DOI:10.1111/1754-9485.12355

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