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1 OMIM reference -
1 associated gene
14 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
No signs/symptoms info
Autosomal dominant osteosclerosis, Worth type
Familial exudative vitreoretinopathy

LRP5 FZD4
LRP5
NDP
TSPAN12
ZNF408


COMMON
GENES
LRP5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LRP5
(0.63)
NDP



Citations in the biomedical literature:


Autosomal dominant osteosclerosis, Worth type
LRP5
Familial exudative vitreoretinopathy
FZD4 NDP TSPAN12 ZNF408



Autosomal dominant osteosclerosis, Worth type
Familial exudative vitreoretinopathy

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

Synonym(s):
- Criswick-Schepens syndrome
- FEVR

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
1 MeSH reference: C536382

Autosomal dominant osteosclerosis, Worth type

Very frequent
- Anomalies of the ribs
- Autosomal dominant inheritance
- Clavicle absent / abnormal
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlarged diaphysis / diaphyses
- Osteosclerosis / osteopetrosis / bone condensation
- Palate exostoses / torus palatinus

Frequent
- Abnormal vertebral size / shape
- Enlargment of jaw / large jaw

Occasional
- Facial palsy
- Nystagmus
- Prognathism / prognathia
- Sensorineural deafness / hearing loss


Familial exudative vitreoretinopathy

(no data available)