ODCs

Cytoscape Web

Click node...

Autosomal dominant osteopetrosis type 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
15 signs/symptoms

Autosomal dominant osteopetrosis type 1

Sclerosteosis

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


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

Citations in the biomedical literature:

Autosomal dominant osteopetrosis type 1		Sclerosteosis
	Synonym(s): (no synonyms)		Synonym(s): - Cortical hyperostosis - syndactyly

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

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536056		External references: 2 OMIM references - 1 MeSH reference: C537525

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
Autosomal dominant osteopetrosis type 1
(no data available)