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2 OMIM references -
2 associated genes
15 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
No signs/symptoms info
Sclerosteosis
Retinopathy of prematurity

LRP4 FZD4
SOST LRP5
NDP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Sclerosteosis
LRP4 SOST
Retinopathy of prematurity
FZD4 LRP5 NDP



Sclerosteosis
Retinopathy of prematurity

Synonym(s):
- Cortical hyperostosis - syndactyly

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 -
1 MeSH reference: C537525
External references:
1 OMIM reference -
1 MeSH reference: D012178

Sclerosteosis

Very frequent
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Dysplastic / thick / grooved fingernails
- Enlarged diaphysis / diaphyses
- Enlargment of jaw / large jaw
- Irregular length / shape of fingers
- Osteosclerosis / osteopetrosis / bone condensation
- Syndactyly of fingers / interdigital palm
- Tall stature / gigantism / growth acceleration

Frequent
- Facial palsy
- Ptosis
- Sensorineural deafness / hearing loss

Occasional
- Optic nerve anomaly / optic atrophy / anomaly of the papilla


Retinopathy of prematurity

(no data available)