Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypertension and brachydactyly syndrome

The syndrome of hypertension with brachydactyly is an autosomal dominant disorder caused by mutations of the PDE3A gene.

Symptoms

Brachydactyly
The shortage of fingers is usually the first symptom while hypertension goes unnoticed for a long time.
Hypertension
Hypertension is not accompanied by any other bodily symptoms except brachydactyly.

Systematic

Monogenic hypertension
Apparent mineralocorticoid excess
Glucocorticoid triggered hypertension
Hyperaldosteronism
Hypertension and brachydactyly syndrome
PDE3A
Liddle syndrome
Pseudohypoaldosteronism

References:

1.

Bilginturan N et. al. (1973) Hereditary brachydactyly associated with hypertension.

[^]
2.

Maass PG et. al. (2015) PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

[^]
3.

Nagai T et. al. (1995) Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.

[^]
4.

Schuster H et. al. (1996) Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12.

[^]
5.

Schuster H et. al. (1996) Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension.

[^]
6.

Bähring S et. al. (1997) Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family.

[^]
7.

Naraghi R et. al. (1997) Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachydactyly.

[^]
8.

Chitayat D et. al. (1997) Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

[^]
9.

Toka HR et. al. (1998) Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.

[^]
10.

Hattenbach LO et. al. (1998) Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly.

[^]
11.

Gong M et. al. (2003) Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.

[^]
12.

Luft FC et. al. (2003) Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology.

[^]
13.

Bähring S et. al. (2008) Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA.

[^]
Update: Sept. 26, 2018