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aplasia of lacrimal and salivary glands (ALSG) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aplasia of lacrimal and salivary glands

MONDO:0008397

Also known as:ALSGcongenital absence of lacrimal puncta and salivary glandsparotid aplasia or hypoplasia

Overview

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.

GeneticsAutosomal dominant · FGF10 (chr 5)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include: Carious teeth, Xerostomia, Absent lacrimal punctum, and Lacrimal gland hypoplasia and 1 more.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FGF10 encodes fibroblast growth factor 10 (208 aa). Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing Highest expression in Cervix Ectocervix (19.0 TPM) and Cervix Endocervix (15.9 TPM).

Aplasia of lacrimal and salivary glands is associated with mutations in the FGF10 gene on chromosome 5.

The FGF10 protein participates in HNF6- and FGF10-dependent synthesis of PDX1 protein, HNF1B- and FGF10-dependent synthesis of PTF1A protein, and FGFR2c mutants bind an expanded range of ligands pathways.

FGF10 is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, and Growth Factor categories) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for FGF10 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for aplasia of lacrimal and salivary glands has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for aplasia of lacrimal and salivary glands.

4 publications have been identified in PubMed for aplasia of lacrimal and salivary glands. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (25%), and Basic Science / Preclinical (25%).

Recent Publications

Ikeda S (2026). [PMID: 41828344](https://pubmed.ncbi.nlm.nih.gov/41828344/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Li Y (2025). [PMID: 41533940](https://pubmed.ncbi.nlm.nih.gov/41533940/). *Investigative ophthalmology & visual science*. [Diagnostic / Biomarker]
Escalante-Reyes M (2025). [PMID: 41409311](https://pubmed.ncbi.nlm.nih.gov/41409311/). *Molecular syndromology*. [Case Report / Case Series]
Feng ZX (2024). [PMID: 38081329](https://pubmed.ncbi.nlm.nih.gov/38081329/). *Ophthalmology*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:180920

Orphanet

European rare disease database

Orphanet:86815

GARD

Genetic and Rare Diseases Info Center

GARD:16759

Questions for Your Care Team

→Should I pursue genetic testing for FGF10, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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aplasia of lacrimal and salivary glands

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team