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lymphatic malformation 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphatic malformation 10

MONDO:0023662

Also known as:LMPHM10

Overview

GeneticsAutosomal dominant · ANGPT2 (chr 8)

Clinical Presentation

Features include always present findings: Lymphedema; and very common findings: Hydrocele testis.

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.

ANGPT2 encodes angiopoietin 2 (496 aa). Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1. Highest expression in Artery Tibial (17.7 TPM) and Adipose Subcutaneous (13.3 TPM).

Lymphatic malformation 10 is associated with mutations in the ANGPT2 gene on chromosome 8.

ANGPT2 is classified as a druggable target (Druggable Genome, Fibrinogen, and Kinase categories) with score 5.2.

Diagnosis

Genetic testing for ANGPT2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for lymphatic malformation 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very 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 10.

136 publications have been identified in PubMed for lymphatic malformation 10. Kisho has analyzed 52 by research type. Research spans Review / Meta-Analysis (27%), Case Report / Case Series (19%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Research summaries	14	27%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619369

Questions for Your Care Team

→Should I pursue genetic testing for ANGPT2, 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 10

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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