Das Hennekam-Syndrom 1 ist eine autosomal rezessive Erkrankung mit Lymphödem bei Lymphangioektasie und geistige Retardierung. Sie wird durch Mutationen im CCBE1-Gen hervorgerufen.
Hennekam-Syndrom | ||||
Hennekam-Lymphangiectasie-Lymphödem-Syndrom 1 | ||||
CCBE1 | ||||
Hennekam-Lymphangiectasie-Lymphödem-Syndrom 2 | ||||
Hennekam-Lymphangiectasie-Lymphödem-Syndrom 3 | ||||
1. |
Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. |
2. |
Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome. |
3. |
Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. |
4. |
Connell F et al. (2010) Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. |
5. |
Alders M et al. (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. |
6. |
Gabrielli O et al. (1991) Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome. |
7. |
Cormier-Daire V et al. (1995) Craniosynostosis and kidney malformation in a case of Hennekam syndrome. |
8. |
Yasunaga M et al. (1993) Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome. |
9. |
Scarcella A et al. (2000) Early death in two sisters with Hennekam syndrome. |
10. |
Forzano F et al. (2002) Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype. |
11. |
Van Balkom ID et al. (2002) Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. |
12. |
Bellini C et al. (2003) Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. |
13. |
OMIM.ORG article Omim 235510 |