ODCs

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2 OMIM references -
2 associated genes
10 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

2 OMIM references -
1 associated gene
15 signs/symptoms

Hyperostosis corticalis generalisata

Craniodiaphyseal dysplasia

LRP5	(UniProt - OMIM)		SOST	(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:

Hyperostosis corticalis generalisata		Craniodiaphyseal dysplasia
	Synonym(s): - Van Buchem disease		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): - Diseases of the musculoskeletal system and connective tissue -

	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: childhood Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlarged diaphysis / diaphyses - Enlargment of jaw / large jaw

Hyperostosis corticalis generalisata		Craniodiaphyseal dysplasia
	Very frequent - Autosomal recessive inheritance - Clavicle absent / abnormal - Cortical anomaly / thick bone cortical layer - Osteosclerosis / osteopetrosis / bone condensation - Prognathism / prognathia Frequent - Facial palsy - Sensorineural deafness / hearing loss		Very frequent - Broad nose / nasal bridge - Coarse face - Depressed nasal bridge - Frontal bossing / prominent forehead - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Rib structure anomalies - Short stature / dwarfism / nanism Frequent - Conductive deafness / hearing loss - External auditory canal atresia / stenosis / agenesis Occasional - Autosomal dominant inheritance - Optic nerve anomaly / optic atrophy / anomaly of the papilla