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2 OMIM references -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hyperostosis corticalis generalisata
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis

LRP5 LRP6
SOST


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hyperostosis corticalis generalisata
LRP5 SOST
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
LRP6



Hyperostosis corticalis generalisata
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis

Synonym(s):
- Van Buchem disease

Synonym(s):
(no synonyms)

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

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

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

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

Hyperostosis corticalis generalisata

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



Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis

(no data available)