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GTR Home > Conditions/Phenotypes > Autosomal recessive osteopetrosis 6

Autosomal recessive osteopetrosis 6

Synonyms
Osteopetrosis autosomal recessive intermediate form; PLEKHM1-Related Autosomal Recessive Osteopetrosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive osteopetrosis-6 (OPTB6) is a bone disorder of intermediate severity characterized by radiologic findings in childhood or adolescence of cortical sclerosis of the pelvic bones, and band-like sclerosis in metaphyses and metadiaphyses of femora, tibiae, and fibulae, and in vertebral endplates ('rugger jersey spine'). 'Erlenmeyer flask' deformity of distal femora may be present (van Wesenbeeck et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AP162, B2, OPTA3, OPTB6, PLEKHM1
    Summary: pleckstrin homology and RUN domain containing M1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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