Primary lymphedema

Summary

Primary lymphedema (MONDO:0019175) is a disease (an umbrella term covering 13 Mondo subtypes) and 5 clinical trials. Top therapeutic interventions include propranolol. A subtype of lymphedema — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
• Umbrella term: 13 Mondo subtypes
• Clinical trials: 5

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000	16.7	Europe	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	primary lymphedema
Mondo ID	MONDO:0019175
Orphanet	77240
ICD-11	794588197
NCIT	C48829
UMLS	C5576443
MedGen	1804666
GARD	0018932
Is cancer (heuristic)	no

Also known as: primary lymphedema · Troncular lymphatic malformation

Disease family

This is a subtype of lymphedema. 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 body system or component › immune system disorder › lymphoid system disorder › lymphatic system disorder › lymphedema › primary lymphedema

Related subtypes (1): elephantiasis

Subtypes (13): hypotrichosis-lymphedema-telangiectasia syndrome (grouping), aplasia cutis congenita-intestinal lymphangiectasia syndrome, chylous ascites, Aagenaes syndrome, German syndrome, mullerian derivatives-lymphangiectasia-polydactyly syndrome, congenital pulmonary lymphangiectasia, lymphedema-atrial septal defects-facial changes syndrome, lymphatic malformation, GJC2-related late-onset primary lymphedema, warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome, EPHB4-related lymphatic-related hydrops fetalis, CELSR1-related late-onset primary lymphedema

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
Not specified	4
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02595996	PHASE2	TERMINATED	Propranolol Dose Escalation in Lymphedema in Patients
NCT01748604	Not specified	COMPLETED	Physical Therapies in the Decongestive Treatment of Lymphedema
NCT02988479	Not specified	COMPLETED	Out-of Pocket Payments in Patients With Lymphedema
NCT04919655	Not specified	UNKNOWN	Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)
NCT06327412	Not specified	UNKNOWN	The Effects of Aerobic Exercise in Patients With Primary Lower Extremity Lymphedema

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PROPRANOLOL	4	1