Familial Expansile Osteolysis (FEO)

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Disease Ontology 12 DOID:0111542 OMIM® 57 174810 KEGG 36 H02042 MeSH 44 C536335 SNOMED-CT 67 254153009 MESH via Orphanet 45 C536335

ICD10 via Orphanet 33 M89.5 UMLS via Orphanet 72 C0432292 Orphanet 58 ORPHA85195 MedGen 41 C0432292 SNOMED-CT via HPO 68 12584003 203522001 22640007 234974002 252157006 255314001 263681008 268029009 30425001 42756003 44057004 more UMLS 71 C0432292

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85195DefinitionA rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.Visit the Orphanet disease page for more resources.

MalaCards based summary : Familial Expansile Osteolysis, also known as osteolysis, familial expansile, is related to mammary paget's disease and paget disease of bone 2, early-onset. An important gene associated with Familial Expansile Osteolysis is TNFRSF11A (TNF Receptor Superfamily Member 11a), and among its related pathways/superpathways are NF-kappa B signaling pathway and Osteoclast differentiation. Affiliated tissues include bone and cortex, and related phenotypes are bowing of the long bones and conductive hearing impairment

Disease Ontology : ¹² A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has material basis in heterozygous mutation in TNFRSF11A on chromosome 18q21.33.

OMIM® : ⁵⁷ Familial expansile osteolysis is an autosomal dominant bone dysplasia characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton. There is medullary and cortical expansion of the bone without sclerosis, leading to painful and disabling deformities and tendency to pathologic fracture. Clinical features include onset of conductive hearing loss in childhood, premature loss of teeth, and variably increased serum alkaline phosphatase (summary by Palenzuela et al., 2002 and Elahi et al., 2007). (174810) (Updated 05-Mar-2021)

KEGG : ³⁶ 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.

UniProtKB/Swiss-Prot : ⁷³ Familial expansile osteolysis: Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition.

Clinical features from OMIM®:

174810 (Updated 05-Mar-2021)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	9.58	TNFRSF11B
2	Decreased viability	GR00221-A-2	9.58	TNFRSF11B
3	Decreased viability	GR00231-A	9.58	SQSTM1
4	Decreased viability	GR00240-S-1	9.58	MIOX TNFRSF11A
5	Decreased viability	GR00249-S	9.58	NOC2L SPP1 TNFRSF11B
6	Decreased viability	GR00381-A-1	9.58	SERF1B SQSTM1
7	Decreased viability	GR00386-A-1	9.58	AP4M1 MB MIOX TNFSF11
8	Decreased viability	GR00402-S-2	9.58	MIOX SQSTM1 TNFRSF11B TNFSF11

Search Clinical Trials , NIH Clinical Center for Familial Expansile Osteolysis

Search GEO for disease gene expression data for Familial Expansile Osteolysis.