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lymphatic malformation 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphatic malformation 14

MONDO:0957954

Overview

GeneticsAutosomal dominant · ERG (chr 21)

Clinical Presentation

Features include: Lymphedema.

Organ System	Phenotype Count	Example Features
Skin	1	Lymphedema

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.

ERG encodes ETS transcription factor ERG (479 aa). Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure Highest expression in Artery Aorta (48.8 TPM) and Artery Tibial (28.1 TPM).

Lymphatic malformation 14 is associated with mutations in the ERG gene on chromosome 21.

The ERG protein participates in ER-to-ERGIC v-SNARES and ERGIC-to-cis-Golgi cargo pathways.

ERG is classified as a druggable target (Clinically Actionable and Druggable Genome categories) with score 4.0.

Diagnosis

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

Biomarker and diagnostic research for lymphatic malformation 14 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 lymphatic malformation 14.

90 publications have been identified in PubMed for lymphatic malformation 14. Research spans Case Report / Case Series (36%), Epidemiology / Natural History (18%), and Clinical Trial Publication (11%).

Research Type	Count	% of Total
Patient case studies	32	36%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620602

Questions for Your Care Team

→Should I pursue genetic testing for ERG, 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 14

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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