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yellow nail syndrome (YNS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

yellow nail syndrome

MONDO:0007921

Also known as:YNSlymphedema with yellow nailslymphedema and Yellow nails

Overview

A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.

GeneticsAutosomal dominant · CELSR1 (chr 22)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Slow-growing nails, Predominantly lower limb lymphedema, Yellow nails, and Hypoplasia of lymphatic vessels and 1 more.

Organ System	Phenotype Count	Example Features
Skin	4	Slow-growing nails, Predominantly lower limb lymphedema, Yellow nails

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.

CELSR1 encodes cadherin EGF LAG seven-pass G-type receptor 1 (3,014 aa). Receptor that may have an important role in cell/cell signaling during nervous system formation Highest expression in Esophagus Mucosa (24.1 TPM) and Skin Not Sun Exposed Suprapubic (23.7 TPM).

Yellow nail syndrome is associated with mutations in the CELSR1 gene on chromosome 22.

The CELSR1 protein participates in SCRIB is required for asymmetric membrane localization of VANGL2 pathway.

CELSR1 is classified as a druggable target (Druggable Genome, G Protein Coupled Receptor, and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for CELSR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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.

No clinical trials have been registered for yellow nail syndrome.

30 publications have been identified in PubMed for yellow nail syndrome. Research spans Case Report / Case Series (73%), Review / Meta-Analysis (10%), and Clinical Trial Publication (7%).

Research Type	Count	% of Total
Patient case studies	22	73%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:153300

Orphanet

European rare disease database

Orphanet:662

GARD

Genetic and Rare Diseases Info Center

GARD:184

Questions for Your Care Team

→Should I pursue genetic testing for CELSR1, 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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yellow nail syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

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Yellow Nail Syndrome.

yellow nail syndrome

Overview

Clinical Presentation

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

Explore clinical features

Recent Publications

Latest News & Developments

Yellow Nail Syndrome.