Details of Disease | DrugMAP

General Information of Disease (ID: DISM514S)

Disease Name	Deafness-lymphedema-leukemia syndrome
Synonyms	lymphedema, primary, with myelodysplasia; Emberger syndrome; deafness-lymphedema-leukemia syndrome
Definition	Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS9XD9A: Hematologic disease DIS4D8VL: Lymphatic malformation DISDOU6F: GATA2 deficiency with susceptibility to MDS/AML DISM514S: Deafness-lymphedema-leukemia syndrome
Disease Identifiers	MONDO ID MONDO_0013540 MESH ID D000077428 UMLS CUI C3279664 OMIM ID 614038 MedGen ID 481294 Orphanet ID 3226 SNOMED CT ID 700057001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GATA2	OTBP2QQ2	Definitive	Autosomal dominant	[1]
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References

1	The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med. 2011 Feb 14;208(2):227-34. doi: 10.1084/jem.20101459. Epub 2011 Jan 17.