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COMMON GENES: 1
PROTEIN INTERACTIONS: 2
2 OMIM references -
4 associated genes
6 signs/symptoms
Osteosclerosis - developmental delay - craniosynostosis
Idiopathic juvenile osteoporosis

LRP5 DKK1
LRP5
WNT1
WNT3A


COMMON
GENES
LRP5


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Osteosclerosis - developmental delay - craniosynostosis
LRP5
Idiopathic juvenile osteoporosis
DKK1 WNT1 WNT3A



Osteosclerosis - developmental delay - craniosynostosis
Idiopathic juvenile osteoporosis

Synonym(s):
(no synonyms)

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):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Osteosclerosis - developmental delay - craniosynostosis
Idiopathic juvenile osteoporosis

Very frequent
- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Broad forehead
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlargment of jaw / large jaw
- High forehead
- Hypertelorism
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Osteosclerosis / osteopetrosis / bone condensation

Frequent
- Craniostenosis / craniosynostosis / sutural synostosis

Occasional
- Cranial hypertension
- Facial pain / cephalalgia / migraine
- Facial palsy
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Visual loss / blindness / amblyopia


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

Frequent
- Abnormal gait
- Motor deficit / trouble

Occasional
- Kyphosis