ODCs

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

COMMON GENES: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Autosomal dominant osteopetrosis type 1

Osteoporosis - pseudoglioma

LRP5

Citations in the biomedical literature:

Autosomal dominant osteopetrosis type 1		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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C536056		External references: 1 OMIM reference - 1 MeSH reference: C536063

Osteoporosis - pseudoglioma
	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 - Intellectual deficit / mental / psychomotor retardation / learning disability - Pupillary anomalies / mydriasis / myosis / tonic pupil - Short stature / dwarfism / nanism Occasional - Depressed nasal bridge - Generalized obesity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Kyphosis - Low hair line (back) - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla
Autosomal dominant osteopetrosis type 1
(no data available)