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2 OMIM references -
4 associated genes
6 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
15 signs/symptoms
Idiopathic juvenile osteoporosis
Sclerosteosis

DKK1 LRP4
LRP5 SOST
WNT1
WNT3A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LRP5
(0.68)
SOST



Citations in the biomedical literature:


Idiopathic juvenile osteoporosis
DKK1 LRP5 WNT1 WNT3A
Sclerosteosis
LRP4 SOST



Idiopathic juvenile osteoporosis
Sclerosteosis

Synonym(s):
- IJO
- Juvenile osteoporosis

Synonym(s):
- Cortical hyperostosis - syndactyly

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

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C537525

Idiopathic juvenile osteoporosis
Sclerosteosis

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

Frequent
- Abnormal gait
- Motor deficit / trouble

Occasional
- Kyphosis


Very frequent
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Dysplastic / thick / grooved fingernails
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Irregular length / shape of fingers
- Osteosclerosis / osteopetrosis / bone condensation
- Syndactyly of fingers / interdigital palm
- Tall stature / gigantism / growth acceleration

Frequent
- Facial palsy
- Ptosis
- Sensorineural deafness / hearing loss

Occasional
- Optic nerve anomaly / optic atrophy / anomaly of the papilla