Familial expansile osteolysis

General Information (adopted from Orphanet):

Synonyms, Signs: POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE
MCCABE DISEASE
EXPANSILE OSTEOLYSIS, FAMILIAL
FEO
EOF
HEPOD
McCabe&#39
s disease
Hereditary expansile polyostotic osteolytic dysplasia
Number of Symptoms 23
OrphanetNr: 85195
OMIM Id: 174810
ICD-10: M89.5
UMLs: C0432292
MeSH: C536335
MedDRA:
Snomed: 254153009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary osteolysis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003080) Hydroxyprolinuria 7 / 7739
2
 (HPO:0006480) Premature loss of teeth 23 / 7739
3
 (HPO:0000405) Conductive hearing impairment 164 / 7739
4
 (HPO:0002653) Bone pain 75 / 7739
5
 (HPO:0002753) Thin bony cortex 16 / 7739
6
 (HPO:0002797) Osteolysis 68 / 7739
7
 (HPO:0002756) Pathologic fracture 30 / 7739
8
 (HPO:0003869) Humeral cortical thinning 3 / 7739
9
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
10
 (OMIM) Enlargement of affected area (intermediate stage) 1 / 7739
11
 (OMIM) Elevated serum alkaline phosphatase 3 / 7739
12
 (OMIM) Severe bone pain 1 / 7739
13
 (OMIM) Complete loss of trabecular pattern (late stage) 1 / 7739
14
 (OMIM) Resorption of cervical region of the teeth 1 / 7739
15
 (OMIM) Hearing loss, initially conductive, later mixed conductive-sensorineural 1 / 7739
16
 (OMIM) Abnormal modeling, onset before focal disease (humerus, radius, ulna, tibia) 1 / 7739
17
 (OMIM) Early loss of dentition 1 / 7739
18
 (OMIM) Spontaneous tooth fracture 1 / 7739
19
 (OMIM) Progressive tooth mobility 1 / 7739
20
 (OMIM) Coarse 'fish net' bone trabeculae, onset before focal disease 1 / 7739
21
 (OMIM) Bone expansion (late stage) 1 / 7739
22
 (OMIM) Rounded areas of trabecular loss (juxta-articular, metaphyseal, diaphyseal, early stage) 1 / 7739
23
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wallace (1988) and Osterberg et al. (1988) described 40 members of a family with an autosomal dominant bone dysplasia which, while exhibiting some histologic similarity to Paget disease (167250), was distinct enough in its features and natural history ...
Molecular genetics OMIM Hughes et al. (2000) noted that the critical region to which FEO was mapped contains the TNFRSF11A gene encoding receptor activator of nuclear factor-kappa-B (RANK), which is essential in osteoclast formation. They identified 2 different heterozygous insertion mutations ...