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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal dominant osteopetrosis type 1
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 osteopetrosis type 1
LRP5
Persistent hyperplastic primary vitreous
ATOH7 FZD4 NDP



Autosomal dominant osteopetrosis type 1
Persistent hyperplastic primary vitreous

Synonym(s):
(no synonyms)

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: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: normal
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 -
1 MeSH reference: C536056
External references:
2 OMIM references -
1 MeSH reference: D054514

No signs/symptoms info available.