deafness-lymphedema-leukemia syndrome
Findings
No curated finding names deafness-lymphedema-leukemia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.
Definition from the Mondo Disease Ontology (MONDO:0013540), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- LymphedemaHPOHP:0001004
- 13 of 14 reported patients
- MyelodysplasiaHPOHP:0002863
- 7 of 14 reported patients
- Acute myeloid leukemiaHPOHP:0004808
- 6 of 14 reported patients
- Inverted CD4:CD8 ratioHPOHP:0033222
- 4 of 14 reported patients
- VerrucaeHPOHP:0200043
- 4 of 14 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.
- GATA2HGNC:4171
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
1 name
Resolves to: deafness-lymphedema-leukemia syndrome
- Also called
- Emberger syndrome