lymphatic malformation 1
MONDO:0007919Mondo
Findings
No curated finding names lymphatic malformation 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.
Definition from the Mondo Disease Ontology (MONDO:0007919), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hypoplasia of lymphatic vesselsHPOHP:0003759
- 4 of 4 reported patients
- Predominantly lower limb lymphedemaHPOHP:0003550
- 64 of 71 reported patients · Congenital onset
- Frequent (30% to 79% of cases)
- LymphedemaHPOHP:0001004
- Very frequent (80% to 99% of cases)
- Abnormal venous morphologyHPOHP:0002624
- Frequent (30% to 79% of cases)
- Ankle swellingHPOHP:0001785
- Frequent (30% to 79% of cases)
- CellulitisHPOHP:0100658
- 14 of 71 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 12
- Atypical behaviorHPOHP:0000708
- Occasional (5% to 29% of cases)
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
- LichenificationHPOHP:0100725
- Occasional (5% to 29% of cases)
- Neoplasm of the skinHPOHP:0008069
- Occasional (5% to 29% of cases)
- Specific learning disabilityHPOHP:0001328
- Occasional (5% to 29% of cases)
- Prominent superficial veinsHPOHP:0001015
- 16 of 71 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FLT4HGNC:3767
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
16 names
Resolves to: lymphatic malformation 1
- Also called
- congenital hereditary lymphedemaearly onset lymphedemaFLT4 hereditary lymphedemahereditary lymphedema 1hereditary lymphedema caused by mutation in FLT4hereditary lymphedema type ILMPH1Alymphedema, early-onsetlymphedema, hereditary, 1Alymphedema, hereditary, type 1AMilroy diseaseNonne-Milroy diseaseNonne-Milroy lymphedemaNonne-Milroy syndromeNonne’s syndromeprimary congenital lymphedema