Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Aplasia of lacrimal and salivary glands

Congenital aplasia of lacrimal and salivary glands is an autosomal dominant disorder caused by mutations of the FGF10 gene. Clinically the disorder is characterized by recurrent local infections.

Systematic

Hereditary ocular disease and visual impairment
Aplasia of lacrimal and salivary glands
FGF10
Fish-eye disease
Hereditary glaucoma
IVIC syndrome
Knobloch syndrome 1
Lacrimoauriculodentodigital syndrome
Ligneous conjunctivitis
Macular degeneration
Manitoba oculotrichoanal syndrome
Papillorenal syndrome
Retinitis pigmentosa
Syndromic microphthalmia 6
Usher syndrome

References:

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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Update: Sept. 26, 2018