KEGG DISEASE: Familial expansile osteolysis

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 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-based classification of diseases [BR:br08402]
Signal transduction
  nt06516  TNF signaling
   H02042  Familial expansile osteolysis

Pathway

NF-kappa B signaling pathway

Osteoclast differentiation

Prolactin signaling pathway

Network

nt06516 TNF signaling

Gene

TNFRSF11A [HSA:8792] [KO:K05147]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

LinkDB

» Japanese version

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