Familial Expansile Osteolysis

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Expansile Osteolysis

  • Hearing impairment
  • Neoplasm
  • Pain
  • Abnormality of the dentition
  • Osteoporosis
  • Conductive hearing impairment
  • Inability to walk
  • Recurrent fractures
  • Bowing of the long bones
  • Bone pain

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Familial Expansile Osteolysis Is also known as expansile osteolysis, familial, eof, mccabe disease, hereditary expansile polyostotic osteolytic dysplasia, polyostotic osteolytic dysplasia, hereditary expansile, hepod.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Familial Expansile Osteolysis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
TNFRSF11A Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TNFRSF11A
Specificity
100 %
Genes
100 %
TNFRSF11A Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TNFRSF11A
Specificity
100 %
Genes
100 %
TNFRSF11A Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TNFRSF11A
Specificity
100 %
Genes
100 %
TNFRSF11A Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TNFRSF11A
Specificity
100 %
Genes
100 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
TNFRSF11A.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TNFRSF11A
Specificity
100 %
Genes
100 %
Paget Disease of Bone (sequence analysis of TNFRSF11A gene).

By CGC Genetics (Portugal).

TNFRSF11A
Specificity
100 %
Genes
100 %

We have 38 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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