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lymphatic malformation 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphatic malformation 8

MONDO:0032907

Also known as:LMPHM8

Overview

GeneticsAutosomal recessive · CALCRL (chr 2)

OnsetANTENATAL

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: Polyhydramnios and Nonimmune hydrops fetalis. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	1	Pleural effusion
Pregnancy and birth

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.

CALCRL encodes calcitonin receptor like receptor (461 aa). G protein-coupled receptor which specificity is determined by its interaction with receptor-activity-modifying proteins (RAMPs). Highest expression in Lung (66.7 TPM) and Artery Coronary (31.9 TPM).

Lymphatic malformation 8 is associated with mutations in the CALCRL gene on chromosome 2.

CALCRL is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 6.5.

Diagnosis

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

Biomarker and diagnostic research for lymphatic malformation 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present 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 8.

124 publications have been identified in PubMed for lymphatic malformation 8. Research spans Case Report / Case Series (31%), Epidemiology / Natural History (24%), and Diagnostic / Biomarker (11%).

Research Type	Count	% of Total
Patient case studies	36	31%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618773

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 8

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 8

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