ZFIN Human Disease: hypertension and brachydactyly syndrome

OBO ID: DOID:0111247

Term Name:	hypertension and brachydactyly syndrome		Search Ontology:
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 OMIM:112410 ORDO:1276 SNOMEDCT_US_2023_03_01:720568003 UMLS_CUI:C1862170
Ontology:	Human Disease ( DOID:0111247 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER hypertension and brachydactyly syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PDE3A	pde3a	Hypertension and brachydactyly syndrome	112410

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None