Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Hennekam-Lymphangiectasie-Lymphödem-Syndrom 1

Das Hennekam-Syndrom 1 ist eine autosomal rezessive Erkrankung mit Lymphödem bei Lymphangioektasie und geistige Retardierung. Sie wird durch Mutationen im CCBE1-Gen hervorgerufen.

Gliederung

Hennekam-Syndrom
Hennekam-Lymphangiectasie-Lymphödem-Syndrom 1
CCBE1
Hennekam-Lymphangiectasie-Lymphödem-Syndrom 2
Hennekam-Lymphangiectasie-Lymphödem-Syndrom 3

Referenzen:

1.

Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

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2.

Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome.

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3.

Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

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4.

Connell F et al. (2010) Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

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5.

Alders M et al. (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

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6.

Gabrielli O et al. (1991) Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome.

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7.

Cormier-Daire V et al. (1995) Craniosynostosis and kidney malformation in a case of Hennekam syndrome.

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8.

Yasunaga M et al. (1993) Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome.

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9.

Scarcella A et al. (2000) Early death in two sisters with Hennekam syndrome.

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10.

Forzano F et al. (2002) Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.

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11.

Van Balkom ID et al. (2002) Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

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12.

Bellini C et al. (2003) Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.

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13.

OMIM.ORG article

Omim 235510 external link
Update: 14. August 2020
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