GJC2-related late-onset primary lymphedema

Summary

GJC2-related late-onset primary lymphedema (MONDO:0035472) is a disease. A subtype of primary lymphedema — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 13

Clinical features

Signs & symptoms

Clinical features (HPO)

13 HPO clinical features (Orphanet curated; top 13 by frequency):

HPO ID	Term	Frequency
HP:0001785	Ankle swelling	Frequent (30-79%)
HP:0003550	Predominantly lower limb lymphedema	Frequent (30-79%)
HP:0003759	Hypoplasia of lymphatic vessels	Frequent (30-79%)
HP:0010741	Pedal edema	Frequent (30-79%)
HP:0100766	Abnormal lymphatic vessel morphology	Frequent (30-79%)
HP:0000282	Facial edema	Occasional (5-29%)
HP:0001581	Recurrent skin infections	Occasional (5-29%)
HP:0002619	Varicose veins	Occasional (5-29%)
HP:0005293	Venous insufficiency	Occasional (5-29%)
HP:0007514	Edema of the dorsum of hands	Occasional (5-29%)
HP:0100658	Cellulitis	Occasional (5-29%)
HP:0000508	Ptosis	Very rare (<1-4%)
HP:0031188	Genital edema	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	GJC2-related late-onset primary lymphedema
Mondo ID	MONDO:0035472
Orphanet	568051
UMLS	C5681305
MedGen	1809328
GARD	0022299
Is cancer (heuristic)	no

Disease family

This is a subtype of primary 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 › GJC2-related late-onset primary lymphedema

Related subtypes (12): 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, 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: 0.