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GTR Home > Conditions/Phenotypes > Odontochondrodysplasia 1

Odontochondrodysplasia 1

Summary

Odontochondrodysplasia-1 (ODCD1) is characterized by mesomelic shortening of tubular bones, ligamentous laxity, and scoliosis, in association with dentinogenesis imperfecta involving both primary and secondary dentition. Affected individuals show variable severity. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses (Maroteaux et al., 1996). Clinical variability and extraskeletal manifestations have been observed (Wehrle et al., 2019). Genetic Heterogeneity of Odontochondrodysplasia Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2; 619269) is caused by mutation in the TANGO1 gene (MIA3; 613455) on chromosome 1q41. [from OMIM]

Available tests

6 tests are in the database for this condition.

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Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACG1A, CEV14, GMAP-210, GMAP210, ODCD, ODCD1, TRIP-11, TRIP230, TRIP11
    Summary: thyroid hormone receptor interactor 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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