ODCs

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2 OMIM references -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
21 signs/symptoms

Craniodiaphyseal dysplasia

Osteoporosis - pseudoglioma


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

Citations in the biomedical literature:

Craniodiaphyseal dysplasia		Osteoporosis - pseudoglioma
	Synonym(s): (no synonyms)		Synonym(s): - OPPG - Ocular form of osteogenesis imperfecta

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536063


COMMON SIGNS	- Depressed nasal bridge - Intellectual deficit / mental / psychomotor retardation / learning disability - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Short stature / dwarfism / nanism

Craniodiaphyseal dysplasia		Osteoporosis - pseudoglioma
	Very frequent - Broad nose / nasal bridge - Coarse face - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlarged diaphysis / diaphyses - Enlargment of jaw / large jaw - Frontal bossing / prominent forehead - Macrocephaly / macrocrania / megalocephaly / megacephaly - Rib structure anomalies Frequent - Conductive deafness / hearing loss - External auditory canal atresia / stenosis / agenesis Occasional - Autosomal dominant inheritance		Very frequent - Abnormal vertebral size / shape - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Cataract / lens opacification - Delayed bone age - Hyperextensible joints / articular hyperlaxity - Hypotonia - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Visual loss / blindness / amblyopia Frequent - Pupillary anomalies / mydriasis / myosis / tonic pupil Occasional - Generalized obesity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Kyphosis - Low hair line (back) - Micrognathia / retrognathia / micrognathism / retrognathism