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Disease Profile

Deafness-lymphedema-leukemia syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Emberger syndrome; Lymphedema, primary, with myelodysplasia

Categories

Blood Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases;

Summary

Deafness-lymphedema-leukemia syndrome is a very rare genetic disorder characterized by swelling (lymphedema), a weak immune system (immunodeficiency), and blood disorders. Signs and symptoms may include congenital deafness, swelling of the legs and genitalia, a type of cancer known as acute myeloblastic leukemia, reduction of the blood cells (pancitopenia), scarring of the liver (cirrhosis), heart problems and cerebellar atrophy (volume loss of the cerebellum which is part of the brain). Patients may also have closely spaced eyes (hypotelorism), skin folds in the inner corner of the eyes, long tapering fingers and/or neck webbing, recurrent infections in the swelled legs, and many warts.[1][2] It is caused by a mutation in the GATA2 gene and it is inherited in an autosomal dominant way. Treatment depends on the symptoms.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal neutrophil count
0011991
Acute leukemia
0002488
Bone marrow hypocellularity
Bone marrow failure
0005528
Fatigue
Tired
Tiredness

[ more ]

0012378
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Prolonged bleeding time
0003010
Respiratory failure
0002878
Sensorineural hearing impairment
0000407
Thrombocytopenia
Low platelet count
0001873
30%-79% of people have these symptoms
Abnormality of the optic nerve
Optic nerve issue
0000587
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Chronic otitis media
Chronic infections of the middle ear
0000389
Fever
0001945
Hepatomegaly
Enlarged liver
0002240
Hypercoagulability
0100724
Intracranial hemorrhage
Bleeding within the skull
0002170
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]

0002076
Nausea and vomiting
0002017
Pallor
0000980
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Splenomegaly
Increased spleen size
0001744
Vertigo
Dizzy spell
0002321
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
Weight loss
0001824
5%-29% of people have these symptoms
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Hypotelorism
Abnormally close eyes
Closely spaced eyes

[ more ]

0000601
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number

[ more ]

0001974
Lymphadenopathy
Swollen lymph nodes
0002716
Myeloproliferative disorder
0005547
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
Webbed neck
Neck webbing
0000465
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Cellulitis
Bacterial infection of skin
Skin infection

[ more ]

0100658
Leukemia
0001909
Myelodysplasia
0002863
Pancytopenia
Low blood cell count
0001876

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Mansour S & cols. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A. September, 2010; 152A(9):2287-96. https://www.ncbi.nlm.nih.gov/pubmed/20803646.
  2. Ostergaard P & cols. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).. Nature Genet.. 2011; 43:929-931. https://www.ncbi.nlm.nih.gov/pubmed/21892158.