FEO
MCID: FML345
MIFTS: 46
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Familial Expansile Osteolysis (FEO)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Familial Expansile Osteolysis:
Characteristics:Orphanet epidemiological data:58
familial expansile osteolysis
Inheritance: Autosomal dominant; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder onset of bone disease in second decade (range 18-44 years) onset of hearing loss in childhood HPO:31
familial expansile osteolysis:
Inheritance autosomal dominant inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Ear diseases
ICD10:
33
Orphanet: 58
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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. |
Human phenotypes related to Familial Expansile Osteolysis:31 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:174810 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Familial Expansile Osteolysis:46
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Cochrane evidence based reviews: polyostotic osteolytic dysplasia, hereditary expansile |
MalaCards organs/tissues related to Familial Expansile Osteolysis:40
Bone,
Cortex
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Articles related to Familial Expansile Osteolysis:(show top 50) (show all 56)
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ClinVar genetic disease variations for Familial Expansile Osteolysis:6
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Search
GEO
for disease gene expression data for Familial Expansile Osteolysis.
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Pathways related to Familial Expansile Osteolysis according to KEGG:36
Pathways related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:
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Cellular components related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:
Biological processes related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:
Molecular functions related to Familial Expansile Osteolysis according to GeneCards Suite gene sharing:
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