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familial congenital nasolacrimal duct obstruction (LCDD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial congenital nasolacrimal duct obstruction

MONDO:0007871

Also known as:LCDDlacrimal duct defectlacrimal puncta, absence of

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Overview

GeneticsAutosomal recessive · IGSF3 (chr 1)

Clinical Trials8 registered · 3 recruiting

Clinical Presentation

Features include always present findings: Epiphora; and sometimes findings: Periorbital edema, Conjunctivitis, Sinusitis, and Dacryocystitis. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Conjunctivitis

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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.

IGSF3 encodes immunoglobulin superfamily member 3 (1,194 aa). Highest expression in Esophagus Mucosa (36.3 TPM) and Skin Sun Exposed Lower leg (31.2 TPM).

Familial congenital nasolacrimal duct obstruction is associated with mutations in the IGSF3 gene on chromosome 1.

IGSF3 is classified as a druggable target (Cell Surface category) with score 0.0.

Diagnosis

Genetic testing for IGSF3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial congenital nasolacrimal duct obstruction has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

8 clinical trials registered, 3 recruiting. Interventions under study include drug therapy, procedural interventions, other interventions, and medical devices. Pipeline includes 1 PHASE3, 6 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07154121](https://clinicaltrials.gov/study/NCT07154121)

Data assembled from 7 of 12 sources · Last updated Sep 21, 2026, 12:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:149700

Orphanet

European rare disease database

Orphanet:451612

GARD

Genetic and Rare Diseases Info Center

GARD:17784

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 8 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Clinical study results	41	26%
Patient case studies	28	18%
Research summaries	26	16%
Disease patterns and progression	26	16%
Laboratory research	19	12%
Testing and diagnosis research	14	9%
Other research	3	2%
New treatment approaches	1	1%

familial congenital nasolacrimal duct obstruction

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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