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

LRP5 LRP5
SOST


COMMON
GENES
LRP5


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Autosomal dominant osteosclerosis, Worth type
LRP5
Hyperostosis corticalis generalisata
SOST



Autosomal dominant osteosclerosis, Worth type
Hyperostosis corticalis generalisata

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

Synonym(s):
- Van Buchem disease

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: -
Average age onset: -
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:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
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


Autosomal dominant osteosclerosis, Worth type
Hyperostosis corticalis generalisata

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

Frequent
- Abnormal vertebral size / shape

Occasional
- Nystagmus


Very frequent
- Autosomal recessive inheritance