ODCs

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2 OMIM references -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Craniodiaphyseal dysplasia

Autosomal dominant osteopetrosis type 1


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

Citations in the biomedical literature:

Craniodiaphyseal dysplasia		Autosomal dominant osteopetrosis type 1

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536056

Craniodiaphyseal dysplasia
	Very frequent - Broad nose / nasal bridge - Coarse face - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Depressed nasal bridge - Enlarged diaphysis / diaphyses - Enlargment of jaw / large jaw - 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
Autosomal dominant osteopetrosis type 1
(no data available)