Das Syndrom der Hypertonie mit Brachydaktylie ist eine autosomal dominante Erkrankung die durch Mutationen des PDE3A-Gens hervorgerufen wird.
Brachydaktylie | |
Die Verkürzung der Finger ist gewöhnlich das erste Zeichen dieser Erkrankung, da der Hypertonus oft unbemerkt über Jahre besteht. |
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Hypertonie | |
Im Zusammenhang mit dem Hypertonus fallen keine weiteren körperlichen Störungen bis auf die Brachydaktylie auf. |
Monogener Hypertonus | ||||
Apparenter Mineralocortocoid Exzess | ||||
Glycocorticoid getriggerter Hypertonus | ||||
Hyperaldosteronismus | ||||
Hypertonie-Brachydaktylie-Syndrom | ||||
PDE3A | ||||
Liddle-Syndrom | ||||
Pseudohypoaldosteronismus | ||||
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. |
14. |
OMIM.ORG article Omim 112410 |