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1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal dominant osteosclerosis, Worth type
Persistent hyperplastic primary vitreous

LRP5 ATOH7
FZD4
NDP


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
Persistent hyperplastic primary vitreous
ATOH7 FZD4 NDP



Autosomal dominant osteosclerosis, Worth type
Persistent hyperplastic primary vitreous

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

Synonym(s):
- PFVS
- PHPV
- Persistent fetal vasculature syndrome

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D054514

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


Persistent hyperplastic primary vitreous

(no data available)