ODCs

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2 OMIM references -
2 associated genes
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

1 associated gene
17 signs/symptoms

Sclerosteosis

Osteosclerosis - developmental delay - craniosynostosis

LRP4	(UniProt - OMIM)		LRP5	(UniProt - OMIM)
SOST	(UniProt - OMIM)


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

Citations in the biomedical literature:

Sclerosteosis		Osteosclerosis - developmental delay - craniosynostosis
	Synonym(s): - Cortical hyperostosis - syndactyly		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: C537525		External references: No OMIM references No MeSH references


COMMON SIGNS	- Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlargment of jaw / large jaw - Facial palsy - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Osteosclerosis / osteopetrosis / bone condensation

Sclerosteosis		Osteosclerosis - developmental delay - craniosynostosis
	Very frequent - Autosomal recessive inheritance - Broad nose / nasal bridge - Cortical anomaly / thick bone cortical layer - Dysplastic / thick / grooved fingernails - Enlarged diaphysis / diaphyses - Irregular length / shape of fingers - Syndactyly of fingers / interdigital palm - Tall stature / gigantism / growth acceleration Frequent - Ptosis - Sensorineural deafness / hearing loss		Very frequent - Autosomal dominant inheritance - Brachycephaly / flat occiput - Broad forehead - High forehead - Hypertelorism - Macrocephaly / macrocrania / megalocephaly / megacephaly Frequent - Craniostenosis / craniosynostosis / sutural synostosis Occasional - Cranial hypertension - Facial pain / cephalalgia / migraine - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia