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lymphatic malformation 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphatic malformation 4

MONDO:0014393

Also known as:VEGFC hereditary lymphedemahereditary lymphedema caused by mutation in VEGFClymphedema, hereditary, 1D

Overview

Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.

GeneticsAutosomal dominant · VEGFC (chr 4)

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: Lymphedema and Thickened, rough skin (hyperkeratosis); and common findings: Hydrocele testis, Pedal edema, and Prominent superficial veins. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Lymphedema, Thickened, rough skin (hyperkeratosis)

Genetic Landscape

VEGFC function has not been fully characterized.

Lymphatic malformation 4 is associated with mutations in the VEGFC gene on chromosome 4.

Diagnosis

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

Biomarker and diagnostic research for lymphatic malformation 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 3 common features.

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 4.

218 publications have been identified in PubMed for lymphatic malformation 4. Kisho has analyzed 145 by research type. Research spans Case Report / Case Series (30%), Epidemiology / Natural History (20%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Patient case studies	44	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615907

GARD

Genetic and Rare Diseases Info Center

GARD:16468

Questions for Your Care Team

→Should I pursue genetic testing for VEGFC, 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 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

lymphatic malformation 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications