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2 OMIM references -
2 associated genes
10 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9
1 OMIM reference -
1 associated gene
14 signs/symptoms
Hyperostosis corticalis generalisata
Autosomal dominant osteosclerosis, Worth type

LRP5 LRP5
SOST


COMMON
GENES
LRP5


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hyperostosis corticalis generalisata
LRP5 SOST
Autosomal dominant osteosclerosis, Worth type



Hyperostosis corticalis generalisata
Autosomal dominant osteosclerosis, Worth type

Synonym(s):
- Van Buchem disease

Synonym(s):
- Endosteal hyperostosis, Worth type
- Worth syndrome

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):
- Congenital malformations, deformations and chromosomal abnormalities -

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


COMMON
SIGNS
- Clavicle absent / abnormal
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Facial palsy
- Osteosclerosis / osteopetrosis / bone condensation
- Prognathism / prognathia
- Sensorineural deafness / hearing loss


Hyperostosis corticalis generalisata
Autosomal dominant osteosclerosis, Worth type

Very frequent
- Autosomal recessive inheritance



Very frequent
- Anomalies of the ribs
- Autosomal dominant inheritance
- Palate exostoses / torus palatinus

Frequent
- Abnormal vertebral size / shape

Occasional
- Nystagmus