Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das FOAR-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen des LRP2-Gens hervorgerufen wird. Das klinische Bild ist geprägt von einer diaphragmalen Hernie, Exomphalos, fehlendes Corpus callosum, Hypertelorismus, Myopie, Innenohrschwerhörigkeit und Proteinurie.
Endozytosestörungen der proximalen Tubulusfunktion
|
||||
|
Donnai-Barrow-Syndrom
|
|||
|
|
LRP2
|
||
|
|
Imerslund-Grasbeck-Syndrom
|
|||
|
|
|
|
|
| 1. |
Donnai D et al. (1993) Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? 
|
| 2. |
Devriendt K et al. (1998) Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.
|
| 3. |
Chassaing N et al. (2003) Donnai-Barrow syndrome: four additional patients.
|
| 4. |
Kantarci S et al. (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
|
| 5. |
None (1963) CONGENITAL RENAL DISEASE, DEAFNESS AND MYOPIA IN ONE FAMILY.
|
| 6. |
Holmes LB et al. (1972) Syndrome of ocular and facial anomalies, telecanthus, and deafness.
|
| 7. |
Gripp KW et al. (1997) Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.
|
| 8. |
Schowalter DB et al. (1997) Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review.
|
| 9. |
Orphanet article Orphanet ID 2143
|
| 10. |
OMIM.ORG article Omim 222448
|
| 11. |
Wikipedia Artikel Wikipedia DE (Donnai-Barrow-Syndrom)
|
 |
Copyright © 2005-2021 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944 Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz |