Aplasia of lacrimal and salivary glands

General Information (adopted from Orphanet):

Synonyms, Signs: SALIVARY GLANDS, ABSENCE OF PAROTID APLASIA OR HYPOPLASIA, INCLUDED
LACRIMAL PUNCTA, ABSENCE OF, INCLUDED
ALSG
Congenital absence of lacrimal puncta and salivary glands
Number of Symptoms 10
OrphanetNr: 86815
OMIM Id: 180920
ICD-10: Q10.4
Q38.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Excretory apparatus of the lacrimal system anomaly
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000670) Carious teeth 145 / 7739
2
(HPO:0000217) Xerostomia 35 / 7739
3
(HPO:0007656) Lacrimal gland aplasia 2 / 7739
4
(HPO:0001092) Absent lacrimal punctum 6 / 7739
5
(HPO:0007732) Lacrimal gland hypoplasia 4 / 7739
6
(OMIM) Salivary gland aplasia/hypoplasia 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Dry conjunctival mucosae 1 / 7739
9
(OMIM) Absent parotid papillae 1 / 7739
10
(OMIM) Lacrimal gland aplasia/hypoplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Autosomal dominant aplasia of lacrimal and salivary glands is a rare condition characterized by irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ...
Molecular genetics OMIM In affected members of 2 Swedish families with ALSG, Entesarian et al. (2005) identified mutations in the FGF10 gene (602115.0001-602115.0002). Both mutations were consistent with the idea that haploinsufficiency for FGF10 underlies ALSG. On reexamination of Fgf10 +/- ...