Lymphatic malformation 5

Summary

Lymphatic malformation 5 (MONDO:0007920) is a disease and 1 clinical trial. A subtype of craniofacial dystonia — 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): 21
• Clinical trials: 1

Clinical features

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO ID	Term	Frequency
HP:0001004	Lymphedema	Very frequent (80-99%)
HP:0000987	Atypical scarring of skin	Frequent (30-79%)
HP:0001581	Recurrent skin infections	Frequent (30-79%)
HP:0002732	Lymph node hypoplasia	Frequent (30-79%)
HP:0002849	Absence of lymph node germinal center	Frequent (30-79%)
HP:0003550	Predominantly lower limb lymphedema	Frequent (30-79%)
HP:0005406	Recurrent bacterial skin infections	Frequent (30-79%)
HP:0010741	Pedal edema	Frequent (30-79%)
HP:0010781	Skin dimple	Frequent (30-79%)
HP:0031288	Cobblestone-like hyperkeratosis	Frequent (30-79%)
HP:0100658	Cellulitis	Frequent (30-79%)
HP:0200041	Skin erosion	Frequent (30-79%)
HP:0000282	Facial edema	Occasional (5-29%)
HP:0002202	Pleural effusion	Occasional (5-29%)
HP:0002619	Varicose veins	Occasional (5-29%)
HP:0007514	Edema of the dorsum of hands	Occasional (5-29%)
HP:0012027	Laryngeal edema	Occasional (5-29%)
HP:0012398	Peripheral edema	Occasional (5-29%)
HP:0100539	Periorbital edema	Occasional (5-29%)
HP:0200042	Skin ulcer	Occasional (5-29%)
HP:0200058	Angiosarcoma	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	lymphatic malformation 5
Mondo ID	MONDO:0007920
MeSH	C562467
OMIM	153200
Orphanet	90186
DOID	DOID:0070213
SNOMED CT	400040008
UMLS	C4746631
MedGen	1648463
GARD	0003324
MedDRA	10027138
Is cancer (heuristic)	no

Also known as: hereditary lymphedema type II · late-onset primary lymphedema · LMPH2 · lymphedema hereditary type 2 · lymphedema, hereditary, II · Meige disease · Meige lymphedema

Disease family

This is a subtype of craniofacial dystonia. 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 › nervous system disorder › movement disorder › extrapyramidal and movement disease › dystonic disorder › focal dystonia › craniofacial dystonia › lymphatic malformation 5

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04618887	Not specified	UNKNOWN	A Comparative Study of GPI’s DBS and Pallidotomy in the Treatment of Meige Syndrome