hypertension and brachydactyly syndrome

Term ID

DOID:0111247

Synonyms

• Bilginturan brachydactyly
• Bilginturan syndrome
• brachydactyly with hypertension
• HTNB
• type E brachydactyly with short stature and hypertension

Definition

A syndrome 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 increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. (2)

References

• GARD:967
• MESH:C537095
• MIM:112410
• ORDO:1276
• SNOMEDCT_US_2023_03_01:720568003
• UMLS_CUI:C1862170

Ontology

Human Disease   ( DOID:0111247 )