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lymphedema-cerebral arteriovenous anomaly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphedema-cerebral arteriovenous anomaly syndrome

MONDO:0007917

Also known as:lymphedema and cerebral arteriovenous anomalyprimary pulmonary hypertension, cerebrovascular malformation and lymphedema feet

Overview

Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.

GeneticsAutosomal dominant

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: Abnormal cerebral vascular morphology, High blood pressure in lung arteries (pulmonary arterial hypertension), and Lymphedema.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Abnormal cerebral vascular morphology

Diagnosis

Biomarker and diagnostic research for lymphedema-cerebral arteriovenous anomaly syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 lymphedema-cerebral arteriovenous anomaly syndrome.

156 publications have been identified in PubMed for lymphedema-cerebral arteriovenous anomaly syndrome. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (28%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Patient case studies	88	56%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:152900

Orphanet

European rare disease database

Orphanet:86914

GARD

Genetic and Rare Diseases Info Center

GARD:9217

Questions for Your Care Team

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Kisho

lymphedema-cerebral arteriovenous anomaly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

lymphedema-cerebral arteriovenous anomaly syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications