ODCs

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2 OMIM references -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

2 OMIM references -
3 associated genes
No signs/symptoms info

Hyperostosis corticalis generalisata

Persistent hyperplastic primary vitreous


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LRP5	(0.63)	NDP

Citations in the biomedical literature:

Hyperostosis corticalis generalisata		Persistent hyperplastic primary vitreous
	Synonym(s): - Van Buchem disease		Synonym(s): - PFVS - PHPV - Persistent fetal vasculature syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare eye disease - 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D054514

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
Persistent hyperplastic primary vitreous
(no data available)