Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Tränen- und Speicheldrüsenaplasie

Die kongenitale Tränen- und Speicheldrüsenaplasie ist eine autosomal dominante Erkrankung, die durch Mutationen im FGF10-Gen hervorgerufen wird. Sie ist charakterisiert durch eine Atresie der Tränen und Mundspeicheldrüse mit der Folge von rezidivierenden Infektionen.

Gliederung

Erbliche Augenerkrankungen und Sehstörungen
Fischaugen-Erkrankung
Hereditäres Glaucom
IVIC-Syndrom
Knobloch-Syndrome 1
Lakrimo-aurikulo-dento-digitales Syndrom
Makuladegeneration
Marles-Syndrom
Papillorenales Syndrom
Retinitis pigmentosa 17
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
FGF10
Usher-Syndrom

Referenzen:

1.

Entesarian M et. al. (2005) Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.

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2.

Milunsky JM et. al. (2006) LADD syndrome is caused by FGF10 mutations.

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3.

Entesarian M et. al. (2007) FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).

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4.

Klar J et. al. (2011) Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease.

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5.

Smith NJ et. al. (1977) Congenital absence of major salivary glands.

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6.

Vogel C et. al. (1978) [Parotid and submandibular gland aplasia with atresia of the lacrimal canaliculi].

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7.

None (1991) Agenesis or hypoplasia of major salivary and lacrimal glands.

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8.

Milunsky JM et. al. (1990) Agenesis or hypoplasia of major salivary and lacrimal glands.

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9.

Higashino H et. al. (1987) Congenital absence of lacrimal puncta and of all major salivary glands: case report and literature review.

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10.

Wiesenfeld D et. al. () Familial parotid gland aplasia.

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11.

Sucupira MS et. al. (1983) Salivary gland imaging and radionuclide dacryocystography in agenesis of salivary glands.

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12.

Caccamise WC et. al. (1980) Congenital absence of the lacrimal puncta associated with alacrima and aptyalism.

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13.

Ferreira AP et. al. (2000) Congenital absence of lacrimal puncta and salivary glands: report of a Brazilian family and review.

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