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lymphatic malformation 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphatic malformation 9

MONDO:0030270

Also known as:LMPHM9

Overview

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 always present findings: Predominantly lower limb lymphedema; and common findings: Tortuous lymphatic vessels.

Organ System	Phenotype Count	Example Features
Skin	1	Predominantly lower limb lymphedema
Arms and legs

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).

Lymphatic malformation 9 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.

Biomarker and diagnostic research for lymphatic malformation 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

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 lymphatic malformation 9.

128 publications have been identified in PubMed for lymphatic malformation 9. Research spans Case Report / Case Series (34%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	43	34%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619319

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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lymphatic malformation 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

lymphatic malformation 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications