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GTR Home > Conditions/Phenotypes > Autosomal dominant osteopetrosis 1

Autosomal dominant osteopetrosis 1

Synonyms
LRP5-Related Autosomal Dominant Osteopetrosis; OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 (OPTA1) 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 (summary by Van Hul et al., 2002). Genetic Heterogeneity of Autosomal Dominant Osteopetrosis Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13. Autosomal dominant osteopetrosis-3 (OPTA3; 618107) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21. [from OMIM]

Available tests

56 tests are in the database for this condition.

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Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP-7, LRP7, OPPG, OPS, OPTA1, PCLD4, VBCH2, LRP5
    Summary: LDL receptor related protein 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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