" /> Osteopetrosis, autosomal dominant 2 - CISMeF





Preferred Label : Osteopetrosis, autosomal dominant 2;

Symbol : OPTA2;

CISMeF acronym : OPTA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Marble bones, autosomal dominant; Albers-schonberg disease, autosomal dominant; Osteosclerosis fragilis generalisata; Osteopetrosis, autosomal dominant, type II;

Description : Autosomal dominant osteopetrosis type II is characterized by sclerosis, predominantly involving the spine, the pelvis, and the skull base. Fragility of bones and dental abscess are leading complications. Autosomal dominant osteopetrosis type I (OPTA1; 607634) is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chloride channel 7 gene (CLCN7, 602727.0004);

Laboratory abnormalities : Elevated serum acid phosphatase;

Prefixed ID : #166600;

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29/07/2025


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