ODCs

Click node...

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

COMMON GENES: 1
PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
10 signs/symptoms

Autosomal dominant osteopetrosis type 1

Hyperostosis corticalis generalisata

LRP5	(UniProt - OMIM)		LRP5	(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		Hyperostosis corticalis generalisata
	Synonym(s): (no synonyms)		Synonym(s): - Van Buchem disease

	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 - No MeSH references

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
Autosomal dominant osteopetrosis type 1
(no data available)