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2 OMIM references -
2 associated genes
10 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 3
2 OMIM references -
4 associated genes
6 signs/symptoms
Hyperostosis corticalis generalisata
Idiopathic juvenile osteoporosis

LRP5 DKK1
SOST LRP5
WNT1
WNT3A


COMMON
GENES
LRP5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SOST
LRP5
LRP5
(0.68)
(0.65)
(0.52)
LRP5
DKK1
WNT1



Citations in the biomedical literature:


Hyperostosis corticalis generalisata
LRP5 SOST
Idiopathic juvenile osteoporosis
DKK1 WNT1 WNT3A



Hyperostosis corticalis generalisata
Idiopathic juvenile osteoporosis

Synonym(s):
- Van Buchem disease

Synonym(s):
- IJO
- Juvenile osteoporosis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Hyperostosis corticalis generalisata
Idiopathic juvenile osteoporosis

Very frequent
- Autosomal recessive inheritance
- Clavicle absent / abnormal
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Osteosclerosis / osteopetrosis / bone condensation
- Prognathism / prognathia

Frequent
- Facial palsy
- Sensorineural deafness / hearing loss



Very frequent
- Bone pain
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Frequent
- Abnormal gait
- Motor deficit / trouble

Occasional
- Kyphosis