Details of Disease | DrugMAP

General Information of Disease (ID: DISHF35B)

Disease Name	Aplasia of lacrimal and salivary glands
Synonyms	salivary glands, absence of, include; salivary glands, absence of; parotid aplasia or hypoplasia; aplasia of lacrimal and salivary glands; congenital absence of lacrimal puncta and salivary glands; ALSG
Definition	Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISHF35B: Aplasia of lacrimal and salivary glands
Disease Identifiers	MONDO ID MONDO_0008397 MESH ID C562407 UMLS CUI C0158667 OMIM ID 180920 MedGen ID 57641 Orphanet ID 86815 SNOMED CT ID 22589009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGF10	TTNPEFX	Supportive	Autosomal dominant	[1]
FGF10	TTNPEFX	moderate	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGF10	OTDSATGA	Supportive	Autosomal dominant	[1]
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References

1	FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). Eur J Hum Genet. 2007 Mar;15(3):379-82. doi: 10.1038/sj.ejhg.5201762. Epub 2007 Jan 10.
2	Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands.Clin Oral Investig. 2017 Jan;21(1):167-172. doi: 10.1007/s00784-016-1771-x. Epub 2016 Mar 9.