LMPM
MCID: LYM094
MIFTS: 39

Lymphedema, Primary, with Myelodysplasia (LMPM)

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

Aliases & Classifications for Lymphedema, Primary, with Myelodysplasia

MalaCards integrated aliases for Lymphedema, Primary, with Myelodysplasia:

Name: Lymphedema, Primary, with Myelodysplasia 57 20 73 29 6 39
Emberger Syndrome 57 20 58 73 13 71
Deafness-Lymphedema-Leukemia Syndrome 20 58
Hearing Loss-Lymphedema-Leukemia Syndrome 58
Lmpm 73

Characteristics:

Orphanet epidemiological data:

58
deafness-lymphedema-leukemia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
lymphedema, primary, with myelodysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


Summaries for Lymphedema, Primary, with Myelodysplasia

GARD : 20 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. It is caused by a mutation in the GATA2 gene and it is inherited in an autosomal dominant way. Treatment depends on the symptoms.

MalaCards based summary : Lymphedema, Primary, with Myelodysplasia, also known as emberger syndrome, is related to immunodeficiency 21 and primary lymphedema. An important gene associated with Lymphedema, Primary, with Myelodysplasia is GATA2 (GATA Binding Protein 2). Affiliated tissues include cerebellum, bone and bone marrow, and related phenotypes are neurological speech impairment and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 614038

Related Diseases for Lymphedema, Primary, with Myelodysplasia

Graphical network of the top 20 diseases related to Lymphedema, Primary, with Myelodysplasia:



Diseases related to Lymphedema, Primary, with Myelodysplasia

Symptoms & Phenotypes for Lymphedema, Primary, with Myelodysplasia

Human phenotypes related to Lymphedema, Primary, with Myelodysplasia:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
5 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
6 acute leukemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002488
7 prolonged bleeding time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003010
8 respiratory failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002878
9 bone marrow hypocellularity 58 31 hallmark (90%) Very frequent (99-80%) HP:0005528
10 abnormal neutrophil count 58 31 hallmark (90%) Very frequent (99-80%) HP:0011991
11 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
12 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
13 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
14 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
15 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
16 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
17 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
18 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
19 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
20 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
21 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
22 intracranial hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002170
23 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
24 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
25 hypercoagulability 58 31 frequent (33%) Frequent (79-30%) HP:0100724
26 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
27 leukocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001974
28 myeloproliferative disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0005547
29 webbed neck 31 occasional (7.5%) HP:0000465
30 epicanthus 31 occasional (7.5%) HP:0000286
31 hypotelorism 31 occasional (7.5%) HP:0000601
32 tapered finger 31 occasional (7.5%) HP:0001182
33 myelodysplasia 31 HP:0002863
34 leukemia 31 HP:0001909
35 cellulitis 31 HP:0100658
36 pancytopenia 31 HP:0001876

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary External Genitalia Male:
lymphedema

Hematology:
myelodysplasia
pancytopenia
bone marrow monosomy 7

Head And Neck Eyes:
hypotelorism (in some patients)
epicanthic folds (in some patients)

Head And Neck Ears:
deafness, congenital sensorineural, profound (in some patients)

Skin Nails Hair Skin:
cellulitis, recurrent
warts, generalized (in some patients)

Genitourinary External Genitalia Female:
lymphedema

Muscle Soft Tissue:
lymphedema, lower extremities

Head And Neck Neck:
webbed neck (in some patients)

Skeletal Hands:
long, tapering fingers (in some patients)

Neoplasia:
leukemia, acute myeloid

Clinical features from OMIM®:

614038 (Updated 05-Mar-2021)

Drugs & Therapeutics for Lymphedema, Primary, with Myelodysplasia

Search Clinical Trials , NIH Clinical Center for Lymphedema, Primary, with Myelodysplasia

Genetic Tests for Lymphedema, Primary, with Myelodysplasia

Genetic tests related to Lymphedema, Primary, with Myelodysplasia:

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

Anatomical Context for Lymphedema, Primary, with Myelodysplasia

MalaCards organs/tissues related to Lymphedema, Primary, with Myelodysplasia:

40
Cerebellum, Bone, Bone Marrow, Neutrophil, Myeloid, Skin

Publications for Lymphedema, Primary, with Myelodysplasia

Articles related to Lymphedema, Primary, with Myelodysplasia:

(show all 26)
# Title Authors PMID Year
1
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 61 57 6 20
21892158 2011
2
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. 6 57 61 20
20803646 2010
3
[Association of idiopathic lymphedema and familial acute leukemia. Apropos of a new case]. 57
3157947 1985
4
[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. 57
295075 1979
5
Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome. 61
33370941 2020
6
Familial emberger syndrome with autoimmunity, hyper-immunoglobulin E and lymphatic impairment caused by a novel GATA2 mutation. 61
32497548 2020
7
[Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl]. 61
31753093 2019
8
Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. 61
29189513 2018
9
Emberger syndrome: A rare association with hearing loss. 61
29605372 2018
10
Skin manifestations among GATA2-deficient patients. 61
28440875 2018
11
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. 61
28271814 2017
12
Successful Myeloablative Matched Unrelated Donor Hematopoietic Stem Cell Transplantation in a Young Girl With GATA2 Deficiency and Emberger Syndrome. 61
28234738 2017
13
GATA2 deficiency and related myeloid neoplasms. 61
28637621 2017
14
Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations. 61
26710799 2016
15
Errata: A Rare Case of Emberger Syndrome Caused by a De Novo Mutation in the GATA2 Gene. 61
29906369 2016
16
A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene. 61
29906059 2016
17
Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS. 61
26748574 2016
18
First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation. 61
26767875 2016
19
Lymphatic vessel development: fluid flow and valve-forming cells. 61
26214518 2015
20
GATA2 is required for lymphatic vessel valve development and maintenance. 61
26214525 2015
21
Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation. 61
26716079 2015
22
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. 61
25359990 2015
23
[GATA2 deficiency]. 61
25509816 2014
24
The evolution of cellular deficiency in GATA2 mutation. 61
24345756 2014
25
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. 61
24227816 2014
26
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. 61
22533337 2012

Variations for Lymphedema, Primary, with Myelodysplasia

ClinVar genetic disease variations for Lymphedema, Primary, with Myelodysplasia:

6 (show top 50) (show all 454)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GATA2 NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter) SNV Pathogenic 854097 3:128205659-128205659 3:128486816-128486816
2 GATA2 NM_032638.5(GATA2):c.971del (p.Lys324fs) Deletion Pathogenic 646586 rs1576746862 3:128202749-128202749 3:128483906-128483906
3 GATA2 NM_032638.5(GATA2):c.831del (p.Phe278fs) Deletion Pathogenic 802002 rs1576748378 3:128204610-128204610 3:128485767-128485767
4 GATA2 NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) Duplication Pathogenic 29717 rs1576749168 3:128205127-128205128 3:128486284-128486285
5 GATA2 NM_032638.5(GATA2):c.232dup (p.Arg78fs) Duplication Pathogenic 29718 rs1576749301 3:128205208-128205209 3:128486365-128486366
6 GATA2 NC_000003.12:g.(?_128480999)_(128912627_?)del Deletion Pathogenic 831903 3:128199842-128631470
7 GATA2 NM_001145661.2(GATA2):c.1017+572C>T SNV Pathogenic 566562 rs1559985787 3:128202131-128202131 3:128483288-128483288
8 GATA2 NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) SNV Pathogenic 800674 rs1313081073 3:128200778-128200778 3:128481935-128481935
9 GATA2 NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) SNV Pathogenic 29719 rs387906632 3:128202711-128202711 3:128483868-128483868
10 GATA2 NM_001145661.2(GATA2):c.1117T>C (p.Cys373Arg) SNV Pathogenic 29720 rs387906633 3:128200688-128200688 3:128481845-128481845
11 GATA2 NM_001145661.2(GATA2):c.1082G>T (p.Arg361Leu) SNV Pathogenic 29721 rs387906634 3:128200723-128200723 3:128481880-128481880
12 GATA2 NM_001145661.2(GATA2):c.1122_1125dup (p.Tyr376fs) Duplication Pathogenic 216932 rs863224874 3:128200679-128200680 3:128481836-128481837
13 GATA2 NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln) SNV Pathogenic 472437 rs1553770434 3:128200118-128200118 3:128481275-128481275
14 GATA2 NM_001145661.2(GATA2):c.890_903dup (p.Ala302fs) Duplication Pathogenic 566999 rs1559986109 3:128202816-128202817 3:128483973-128483974
15 GATA2 NM_001145661.2(GATA2):c.818dup (p.Pro274fs) Duplication Pathogenic 574716 rs1559986946 3:128204622-128204623 3:128485779-128485780
16 GATA2 NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter) SNV Pathogenic 640197 rs1576746847 3:128202732-128202732 3:128483889-128483889
17 GATA2 NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) SNV Pathogenic 29719 rs387906632 3:128202711-128202711 3:128483868-128483868
18 GATA2 NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) Duplication Pathogenic 539711 rs1553770949 3:128204787-128204788 3:128485944-128485945
19 GATA2 NC_000003.12:g.(?_128479422)_(128487076_?)del Deletion Pathogenic 417324 3:128198265-128205919 3:128479422-128487076
20 GATA2 NC_000003.12:g.(?_128486793)_(128487041_?)del Deletion Pathogenic 657370 3:128205636-128205884 3:128486793-128487041
21 GATA2 NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) SNV Pathogenic 29711 rs387906631 3:128200744-128200744 3:128481901-128481901
22 GATA2 NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) SNV Likely pathogenic 435281 rs1553770510 3:128200721-128200721 3:128481878-128481878
23 GATA2 NM_001145661.2(GATA2):c.1085G>A (p.Arg362Gln) SNV Likely pathogenic 623173 rs867160952 3:128200720-128200720 3:128481877-128481877
24 GATA2 NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs) Duplication Likely pathogenic 225277 rs869320770 3:128200780-128200781 3:128481937-128481938
25 GATA2 NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys) SNV Likely pathogenic 472431 rs1426175410 3:128200724-128200724 3:128481881-128481881
26 GATA2 NM_032638.5(GATA2):c.1024dup (p.Ala342fs) Duplication Likely pathogenic 944022 3:128200780-128200781 3:128481937-128481938
27 GATA2 NM_001145661.2(GATA2):c.1113C>A (p.Asn371Lys) SNV Likely pathogenic 216931 rs376003468 3:128200692-128200692 3:128481849-128481849
28 GATA2 NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) SNV Likely pathogenic 802000 rs1576745256 3:128200759-128200759 3:128481916-128481916
29 GATA2 NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) SNV Likely pathogenic 802001 rs1576745260 3:128200760-128200760 3:128481917-128481917
30 GATA2 NM_032638.5(GATA2):c.872-1G>C SNV Likely pathogenic 835953 3:128202849-128202849 3:128484006-128484006
31 GATA2 NM_032638.5(GATA2):c.46G>A (p.Val16Met) SNV Uncertain significance 837071 3:128205829-128205829 3:128486986-128486986
32 GATA2 NM_032638.5(GATA2):c.64C>T (p.Pro22Ser) SNV Uncertain significance 837087 3:128205811-128205811 3:128486968-128486968
33 GATA2 NM_032638.5(GATA2):c.1205A>G (p.Asn402Ser) SNV Uncertain significance 838976 3:128200100-128200100 3:128481257-128481257
34 GATA2 NM_032638.5(GATA2):c.719C>T (p.Pro240Leu) SNV Uncertain significance 840581 3:128204722-128204722 3:128485879-128485879
35 GATA2 NM_032638.5(GATA2):c.1077A>T (p.Leu359Phe) SNV Uncertain significance 841426 3:128200728-128200728 3:128481885-128481885
36 GATA2 NM_032638.5(GATA2):c.762G>A (p.Pro254=) SNV Uncertain significance 843301 3:128204679-128204679 3:128485836-128485836
37 GATA2 NM_032638.5(GATA2):c.1289C>T (p.Ala430Val) SNV Uncertain significance 843425 3:128200016-128200016 3:128481173-128481173
38 GATA2 NM_032638.5(GATA2):c.39C>A (p.His13Gln) SNV Uncertain significance 845878 3:128205836-128205836 3:128486993-128486993
39 GATA2 NM_032638.5(GATA2):c.186C>G (p.Asn62Lys) SNV Uncertain significance 846368 3:128205689-128205689 3:128486846-128486846
40 GATA2 NM_032638.5(GATA2):c.1114G>A (p.Ala372Thr) SNV Uncertain significance 846616 3:128200691-128200691 3:128481848-128481848
41 GATA2 NM_032638.5(GATA2):c.788G>C (p.Gly263Ala) SNV Uncertain significance 846694 3:128204653-128204653 3:128485810-128485810
42 GATA2 NM_032638.5(GATA2):c.188C>G (p.Pro63Arg) SNV Uncertain significance 846852 3:128205687-128205687 3:128486844-128486844
43 GATA2 NM_032638.5(GATA2):c.63C>A (p.His21Gln) SNV Uncertain significance 847398 3:128205812-128205812 3:128486969-128486969
44 GATA2 NM_032638.5(GATA2):c.223G>A (p.Ala75Thr) SNV Uncertain significance 847522 3:128205652-128205652 3:128486809-128486809
45 GATA2 NM_032638.5(GATA2):c.722C>T (p.Ala241Val) SNV Uncertain significance 847857 3:128204719-128204719 3:128485876-128485876
46 GATA2 NM_032638.5(GATA2):c.776A>G (p.Asp259Gly) SNV Uncertain significance 848228 3:128204665-128204665 3:128485822-128485822
47 GATA2 NM_032638.5(GATA2):c.1280C>G (p.Pro427Arg) SNV Uncertain significance 848285 3:128200025-128200025 3:128481182-128481182
48 GATA2 NM_032638.5(GATA2):c.121C>T (p.Pro41Ser) SNV Uncertain significance 848742 3:128205754-128205754 3:128486911-128486911
49 GATA2 NM_032638.5(GATA2):c.871+4A>G SNV Uncertain significance 849479 3:128204566-128204566 3:128485723-128485723
50 GATA2 NM_032638.5(GATA2):c.431C>G (p.Ala144Gly) SNV Uncertain significance 850509 3:128205010-128205010 3:128486167-128486167

UniProtKB/Swiss-Prot genetic disease variations for Lymphedema, Primary, with Myelodysplasia:

73
# Symbol AA change Variation ID SNP ID
1 GATA2 p.Arg361Pro VAR_066644
2 GATA2 p.Cys373Arg VAR_066645 rs387906633

Expression for Lymphedema, Primary, with Myelodysplasia

Search GEO for disease gene expression data for Lymphedema, Primary, with Myelodysplasia.

Pathways for Lymphedema, Primary, with Myelodysplasia

GO Terms for Lymphedema, Primary, with Myelodysplasia

Sources for Lymphedema, Primary, with Myelodysplasia

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17 EFO
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31 HPO
32 ICD10
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56 OMIM via Orphanet
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72 UMLS via Orphanet
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