Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The syndrome of hypertension with brachydactyly is an autosomal dominant disorder caused by mutations of the PDE3A gene.
| Brachydactyly | |
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The shortage of fingers is usually the first symptom while hypertension goes unnoticed for a long time. |
| Hypertension | |
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Hypertension is not accompanied by any other bodily symptoms except brachydactyly. |
Monogenic hypertension
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Apparent mineralocorticoid excess
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Glucocorticoid triggered hypertension
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Hyperaldosteronism
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Hypertension and brachydactyly syndrome
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PDE3A
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Liddle syndrome
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Pseudohypoaldosteronism
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| 1. |
Bilginturan N et al. (1973) Hereditary brachydactyly associated with hypertension. 
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| 2. |
Maass PG et al. (2015) PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
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| 3. |
Nagai T et al. (1995) Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.
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| 4. |
Schuster H et al. (1996) Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12.
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| 5. |
Schuster H et al. (1996) Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension.
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| 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.
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| 7. |
Naraghi R et al. (1997) Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachydactyly.
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| 8. |
Chitayat D et al. (1997) Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.
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| 9. |
Toka HR et al. (1998) Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.
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| 10. |
Hattenbach LO et al. (1998) Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly.
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| 11. |
Gong M et al. (2003) Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.
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| 12. |
Luft FC et al. (2003) Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology.
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| 13. |
Bähring S et al. (2008) Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA.
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| 14. |
OMIM.ORG article Omim 112410
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| 15. |
Wikipedia article Wikipedia EN (Hypertension_and_brachydactyly_syndrome)
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