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2 OMIM references -
2 associated genes
10 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
1 OMIM reference -
3 associated genes
No signs/symptoms info
Hyperostosis corticalis generalisata
Retinopathy of prematurity

LRP5 FZD4
SOST LRP5
NDP


COMMON
GENES
LRP5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SOST
LRP5
(0.68)
(0.63)
LRP5
NDP



Citations in the biomedical literature:


Hyperostosis corticalis generalisata
LRP5 SOST
Retinopathy of prematurity
FZD4 NDP



Hyperostosis corticalis generalisata
Retinopathy of prematurity

Synonym(s):
- Van Buchem disease

Synonym(s):
- ROP
- Retrolental fibroplasia

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

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D012178

Hyperostosis corticalis generalisata

Very frequent
- Autosomal recessive inheritance
- Clavicle absent / abnormal
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Osteosclerosis / osteopetrosis / bone condensation
- Prognathism / prognathia

Frequent
- Facial palsy
- Sensorineural deafness / hearing loss



Retinopathy of prematurity

(no data available)