LMPM
MCID: EMB016
MIFTS: 28

Emberger Syndrome (LMPM) malady

Categories: Genetic diseases, Cardiovascular diseases, Ear diseases, Skin diseases, Fetal diseases, Blood diseases, Rare diseases, Immune diseases, Cancer diseases

Aliases & Classifications for Emberger Syndrome

Aliases & Descriptions for Emberger Syndrome:

Name: Emberger Syndrome 54 24 56 66 13 69
Lymphedema, Primary, with Myelodysplasia 54 24 66 29
Deafness-Lymphedema-Leukemia Syndrome 56
Lmpm 66

Characteristics:

Orphanet epidemiological data:

56
deafness-lymphedema-leukemia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
emberger syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614038
Orphanet 56 ORPHA3226
ICD10 via Orphanet 34 D46.7
MedGen 40 C3279664
MeSH 42 D008209

Summaries for Emberger Syndrome

UniProtKB/Swiss-Prot : 66 Lymphedema, primary, with myelodysplasia: A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment.

MalaCards based summary : Emberger Syndrome, also known as lymphedema, primary, with myelodysplasia, is related to deafness-lymphedema-leukemia syndrome and immunodeficiency 21, and has symptoms including pancytopenia, myelodysplasia and epicanthus. An important gene associated with Emberger Syndrome is GATA2 (GATA Binding Protein 2). Affiliated tissues include skin and myeloid.

Description from OMIM: 614038

Related Diseases for Emberger Syndrome

Diseases related to Emberger Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 deafness-lymphedema-leukemia syndrome 11.0
2 immunodeficiency 21 10.9
3 lymphedema 10.0
4 hematopoietic stem cell transplantation 9.8
5 leukemia 9.8
6 myeloid leukemia 9.8

Graphical network of the top 20 diseases related to Emberger Syndrome:



Diseases related to Emberger Syndrome

Symptoms & Phenotypes for Emberger Syndrome

Symptoms by clinical synopsis from OMIM:

614038

Clinical features from OMIM:

614038

Human phenotypes related to Emberger Syndrome:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 pancytopenia 32 HP:0001876
2 myelodysplasia 32 HP:0002863
3 epicanthus 32 HP:0000286
4 lymphedema 32 HP:0001004
5 webbed neck 32 HP:0000465
6 cellulitis 32 HP:0100658
7 hypotelorism 32 HP:0000601
8 tapered finger 32 HP:0001182

Drugs & Therapeutics for Emberger Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Electrical Impedance Tomography (EIT) Monitoring in Adults With ALI or ARDS Completed NCT01272882
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Emberger Syndrome

Genetic Tests for Emberger Syndrome

Genetic tests related to Emberger Syndrome:

id Genetic test Affiliating Genes
1 Lymphedema, Primary, with Myelodysplasia 29 24 GATA2

Anatomical Context for Emberger Syndrome

MalaCards organs/tissues related to Emberger Syndrome:

39
Skin, Myeloid

Publications for Emberger Syndrome

Articles related to Emberger Syndrome:

id Title Authors Year
1
Successful Myeloablative Matched Unrelated Donor Hematopoietic Stem Cell Transplantation in a Young Girl With GATA2 Deficiency and Emberger Syndrome. ( 28234738 )
2017
2
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. ( 28271814 )
2017
3
First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation. ( 26767875 )
2016
4
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). ( 21892158 )
2011
5
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. ( 20803646 )
2010

Variations for Emberger Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Emberger Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 GATA2 p.Arg361Pro VAR_066644
2 GATA2 p.Cys373Arg VAR_066645 rs387906633

ClinVar genetic disease variations for Emberger Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GATA2 GATA2, 2-BP INS, 310CC insertion Pathogenic
2 GATA2 GATA2, 1-BP INS, 230C insertion Pathogenic
3 GATA2 NM_001145661.1(GATA2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs387906632 GRCh37 Chromosome 3, 128202711: 128202711
4 GATA2 NM_001145661.1(GATA2): c.1117T> C (p.Cys373Arg) single nucleotide variant Pathogenic rs387906633 GRCh37 Chromosome 3, 128200688: 128200688
5 GATA2 NM_001145661.1(GATA2): c.1082G> T (p.Arg361Leu) single nucleotide variant Pathogenic rs387906634 GRCh37 Chromosome 3, 128200723: 128200723
6 GATA2 NM_032638.4(GATA2): c.1122_1125dupCCTC (p.Tyr376Profs) duplication Pathogenic rs863224874 GRCh37 Chromosome 3, 128200680: 128200683
7 GATA2 NM_032638.4(GATA2): c.1113C> A (p.Asn371Lys) single nucleotide variant Likely pathogenic rs376003468 GRCh38 Chromosome 3, 128481849: 128481849
8 GATA2 NC_000003.12: g.(?_128479422)_(128487076_?)del deletion Pathogenic GRCh38 Chromosome 3, 128479422: 128487076

Expression for Emberger Syndrome

Search GEO for disease gene expression data for Emberger Syndrome.

Pathways for Emberger Syndrome

GO Terms for Emberger Syndrome

Sources for Emberger Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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