Details of Disease | DrugMAP

General Information of Disease (ID: DISATD9M)

Disease Name	Brachydactyly-arterial hypertension syndrome
Synonyms	hypertension and brachydactyly syndrome; brachydactyly with hypertension; HTNB; brachydactyly, type E, with short stature and hypertension; brachydactyly type E with short stature and hypertension; Bilginturan syndrome; Bilginturan brachydactyly; brachydactyly type E, with short stature and hypertension
Definition	Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS3LICD: Congenital limb malformation DISHPNVX: Dysplasia DIS2533F: Brachydactyly DISATD9M: Brachydactyly-arterial hypertension syndrome
Disease Identifiers	MONDO ID MONDO_0007211 MESH ID C537095 UMLS CUI C1862170 OMIM ID 112410 MedGen ID 349445 Orphanet ID 1276 SNOMED CT ID 720568003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PDE3A	TT06AWU	Strong	Autosomal dominant	[1]
PDE3A	TT06AWU	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE3A	OTKUW1WT	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nat Genet. 2015 Jun;47(6):647-53. doi: 10.1038/ng.3302. Epub 2015 May 11.
2	Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation.Am J Hypertens. 2020 Feb 22;33(2):190-197. doi: 10.1093/ajh/hpz151.