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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
15 signs/symptoms
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Craniodiaphyseal dysplasia

LRP6 SOST


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LRP6
(0.68)
SOST



Citations in the biomedical literature:


Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
LRP6
Craniodiaphyseal dysplasia
SOST



Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Craniodiaphyseal dysplasia

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

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

Craniodiaphyseal dysplasia

Very frequent
- Broad nose / nasal bridge
- Coarse face
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Depressed nasal bridge
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Frontal bossing / prominent forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Rib structure anomalies
- Short stature / dwarfism / nanism

Frequent
- Conductive deafness / hearing loss
- External auditory canal atresia / stenosis / agenesis

Occasional
- Autosomal dominant inheritance
- Optic nerve anomaly / optic atrophy / anomaly of the papilla


Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis

(no data available)