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lymphatic malformation 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphatic malformation 13

MONDO:0859379

Overview

GeneticsAutosomal recessive · THSD1 (chr 13)

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: Chronic lung disease, Single umbilical artery, Nonimmune hydrops fetalis, and Coarse facial features and others; and very common findings: Hemangioma and Fetal pleural effusion. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Fetal pericardial effusion, High blood pressure in lung arteries (pulmonary arterial hypertension), Atrial septal defect

Genetic Landscape

THSD1 function has not been fully characterized.

Lymphatic malformation 13 is associated with mutations in the THSD1 gene on chromosome 13.

Diagnosis

Genetic testing for THSD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for lymphatic malformation 13 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 2 very common features, 10 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 13.

95 publications have been identified in PubMed for lymphatic malformation 13. Research spans Case Report / Case Series (28%), Epidemiology / Natural History (18%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	27	28%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620244

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Kisho

lymphatic malformation 13

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 13

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