Microcystic lymphatic malformation

Summary

Microcystic lymphatic malformation (MONDO:0019329) is a disease and 5 clinical trials. Top therapeutic interventions include sirolimus. A subtype of lymphangioma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	microcystic lymphatic malformation
Mondo ID	MONDO:0019329
Orphanet	79490
ICD-11	1796778763
NCIT	C45485
UMLS	C4738056
MedGen	1843242
GARD	0013020
Is cancer (heuristic)	no

Also known as: capillary lymphatic malformation · cutaneous lymphangioma circumscriptum · microcystic infiltrating lymphatic malformation · microcystic lymphangioma · superficial lymphangioma · superficial lymphatic malformation

Disease family

This is a subtype of lymphangioma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › cardiovascular organ benign neoplasm › lymphangioma › microcystic lymphatic malformation

Related subtypes (11): colonic lymphangioma, capillary lymphangioma, lymphangioendothelioma, Gorham-Stout disease, cystic hygroma, lymphedema-posterior choanal atresia syndrome, diffuse lymphatic malformation, mixed cystic lymphatic malformation, multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome, macrocystic lymphatic malformation, skin lymphangioma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	2
PHASE4	1
PHASE3	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04921722	PHASE4	UNKNOWN	Percutaneous Administration of Sirolimus in the Treatment of Superficial Complicated Vascular Anomalies
NCT06239480	PHASE3	ACTIVE_NOT_RECRUITING	SELVA: A Phase 3 Study Evaluating QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Microcystic Lymphatic Malformations
NCT00975819	PHASE2	COMPLETED	Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies
NCT05050149	PHASE2	COMPLETED	Study Evaluating the Safety and Efficacy of PTX-022 (QTORIN Sirolimus) in the Treatment of Microcystic Lymphatic Malformations
NCT06160739	Not specified	UNKNOWN	Role of Sirolimus in Treatment of Microcystic , Mixed Lymphatic and Vascular Malformations

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SIROLIMUS	4	2