ODCs

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

COMMON GENES: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Autosomal dominant osteopetrosis type 1

Autosomal dominant osteosclerosis, Worth type

LRP5

Citations in the biomedical literature:

Autosomal dominant osteopetrosis type 1		Autosomal dominant osteosclerosis, Worth type
	Synonym(s): (no synonyms)		Synonym(s): - Endosteal hyperostosis, Worth type - Worth syndrome

	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): - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Autosomal dominant osteosclerosis, Worth type
	Very frequent - Anomalies of the ribs - Autosomal dominant inheritance - Clavicle absent / abnormal - Cortical anomaly / thick bone cortical layer - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlarged diaphysis / diaphyses - Osteosclerosis / osteopetrosis / bone condensation - Palate exostoses / torus palatinus Frequent - Abnormal vertebral size / shape - Enlargment of jaw / large jaw Occasional - Facial palsy - Nystagmus - Prognathism / prognathia - Sensorineural deafness / hearing loss
Autosomal dominant osteopetrosis type 1
(no data available)