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GTR Home > Conditions/Phenotypes > Brachydactyly-arterial hypertension syndrome

Brachydactyly-arterial hypertension syndrome

Synonyms
Bilginturan syndrome; Brachydactyly type E with short stature and hypertension; Brachydactyly with hypertension
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

The hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by Maass et al., 2015). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI-PDE, CGI-PDE A, CGI-PDE-A, HTNB, PDE3A
    Summary: phosphodiesterase 3A

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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