LMPM
MCID: LYM094
MIFTS: 38

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 56 52 73 29 6 39
Emberger Syndrome 56 52 58 73 13 71
Deafness-Lymphedema-Leukemia Syndrome 52 58
Lmpm 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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

NIH Rare Diseases : 52 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 lymphedema. An important gene associated with Lymphedema, Primary, with Myelodysplasia is GATA2 (GATA Binding Protein 2). Affiliated tissues include eye, skin and brain, 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

Diseases related to Lymphedema, Primary, with Myelodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 21 11.3
2 lymphedema 10.5
3 primary lymphedema 10.4
4 benign mesothelioma 10.3
5 malignant pleural mesothelioma 10.3
6 leukemia, acute myeloid 10.2
7 branchiootic syndrome 1 10.2
8 myelodysplastic syndrome 10.2
9 pancytopenia 10.2
10 graft-versus-host disease 10.1
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
12 erysipelas 10.1
13 cellulitis 10.1
14 childhood leukemia 10.1
15 myeloid leukemia 10.1

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 bone marrow hypocellularity 58 31 hallmark (90%) Very frequent (99-80%) HP:0005528
5 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
6 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
7 respiratory failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002878
8 acute leukemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002488
9 prolonged bleeding time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003010
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 hypercoagulability 58 31 frequent (33%) Frequent (79-30%) HP:0100724
18 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
19 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
20 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
21 intracranial hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002170
22 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
23 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
24 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
25 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
26 leukocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001974
27 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
28 myeloproliferative disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0005547
29 epicanthus 31 occasional (7.5%) HP:0000286
30 webbed neck 31 occasional (7.5%) HP:0000465
31 hypotelorism 31 occasional (7.5%) HP:0000601
32 tapered finger 31 occasional (7.5%) HP:0001182
33 pancytopenia 31 HP:0001876
34 myelodysplasia 31 HP:0002863
35 leukemia 31 HP:0001909
36 cellulitis 31 HP:0100658

Symptoms via clinical synopsis from OMIM:

56
Hematology:
pancytopenia
myelodysplasia
bone marrow monosomy 7

Genitourinary External Genitalia Female:
lymphedema

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 Male:
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

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
Eye, Skin, Brain, Cerebellum, Heart, Liver, Myeloid

Publications for Lymphedema, Primary, with Myelodysplasia

Articles related to Lymphedema, Primary, with Myelodysplasia:

(show all 24)
# Title Authors PMID Year
1
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 61 52 56 6
21892158 2011
2
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. 61 52 56 6
20803646 2010
3
[Association of idiopathic lymphedema and familial acute leukemia. Apropos of a new case]. 56
3157947 1985
4
[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. 56
295075 1979
5
[Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl]. 61
31753093 2019
6
Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. 61
29189513 2018
7
Emberger syndrome: A rare association with hearing loss. 61
29605372 2018
8
Skin manifestations among GATA2-deficient patients. 61
28440875 2018
9
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. 61
28271814 2017
10
Successful Myeloablative Matched Unrelated Donor Hematopoietic Stem Cell Transplantation in a Young Girl With GATA2 Deficiency and Emberger Syndrome. 61
28234738 2017
11
GATA2 deficiency and related myeloid neoplasms. 61
28637621 2017
12
Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations. 61
26710799 2016
13
Errata: A Rare Case of Emberger Syndrome Caused by a De Novo Mutation in the GATA2 Gene. 61
29906369 2016
14
Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS. 61
26748574 2016
15
A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene. 61
29906059 2016
16
First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation. 61
26767875 2016
17
GATA2 is required for lymphatic vessel valve development and maintenance. 61
26214525 2015
18
Lymphatic vessel development: fluid flow and valve-forming cells. 61
26214518 2015
19
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. 61
25359990 2015
20
Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation. 61
26716079 2015
21
[GATA2 deficiency]. 61
25509816 2014
22
The evolution of cellular deficiency in GATA2 mutation. 61
24345756 2014
23
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. 61
24227816 2014
24
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 228) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GATA2 NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met)SNV Pathogenic 29711 rs387906631 3:128200744-128200744 3:128481901-128481901
2 GATA2 NM_001145661.2(GATA2):c.312_313dup (p.Leu105fs)duplication Pathogenic 29717 3:128205127-128205128 3:128486284-128486285
3 GATA2 NM_001145661.2(GATA2):c.232dup (p.Arg78fs)duplication Pathogenic 29718 3:128205208-128205209 3:128486365-128486366
4 GATA2 NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter)SNV Pathogenic 29719 rs387906632 3:128202711-128202711 3:128483868-128483868
5 GATA2 NM_001145661.2(GATA2):c.1117T>C (p.Cys373Arg)SNV Pathogenic 29720 rs387906633 3:128200688-128200688 3:128481845-128481845
6 GATA2 NM_001145661.2(GATA2):c.1082G>T (p.Arg361Leu)SNV Pathogenic 29721 rs387906634 3:128200723-128200723 3:128481880-128481880
7 GATA2 NM_001145661.2(GATA2):c.1122_1125dup (p.Tyr376fs)duplication Pathogenic 216932 rs863224874 3:128200679-128200680 3:128481836-128481837
8 GATA2 NC_000003.11:g.(?_128198265)_(128205919_?)deldeletion Pathogenic 417324 3:128198265-128205919 3:128479422-128487076
9 GATA2 NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln)SNV Pathogenic 472437 rs1553770434 3:128200118-128200118 3:128481275-128481275
10 GATA2 NM_001145661.2(GATA2):c.890_903dup (p.Ala302fs)duplication Pathogenic 566999 rs1559986109 3:128202816-128202817 3:128483973-128483974
11 GATA2 NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter)SNV Pathogenic 640197 3:128202732-128202732 3:128483889-128483889
12 GATA2 NM_032638.5(GATA2):c.971del (p.Lys324fs)deletion Pathogenic 646586 3:128202749-128202749 3:128483906-128483906
13 GATA2 NM_001145661.2(GATA2):c.818dup (p.Pro274fs)duplication Pathogenic 574716 rs1559986946 3:128204622-128204623 3:128485779-128485780
14 GATA2 NC_000003.11:g.(?_128205636)_(128205884_?)deldeletion Pathogenic 657370 3:128205636-128205884 3:128486793-128487041
15 GATA2 NM_032638.5(GATA2):c.831del (p.Phe278fs)deletion Pathogenic 802002 3:128204610-128204610 3:128485767-128485767
16 GATA2 NM_001145661.2(GATA2):c.1017+572C>TSNV Pathogenic/Likely pathogenic 566562 rs1559985787 3:128202131-128202131 3:128483288-128483288
17 GATA2 NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer)duplication Pathogenic/Likely pathogenic 539711 rs1553770949 3:128204787-128204788 3:128485944-128485945
18 GATA2 NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter)SNV Pathogenic/Likely pathogenic 435281 rs1553770510 3:128200721-128200721 3:128481878-128481878
19 GATA2 NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys)SNV Likely pathogenic 472431 rs1426175410 3:128200724-128200724 3:128481881-128481881
20 GATA2 NM_001145661.2(GATA2):c.1113C>A (p.Asn371Lys)SNV Likely pathogenic 216931 rs376003468 3:128200692-128200692 3:128481849-128481849
21 GATA2 NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs)duplication Likely pathogenic 225277 rs869320770 3:128200780-128200781 3:128481937-128481938
22 GATA2 NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr)SNV Likely pathogenic 802000 3:128200759-128200759 3:128481916-128481916
23 GATA2 NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)SNV Likely pathogenic 802001 3:128200760-128200760 3:128481917-128481917
24 GATA2 NM_001145661.2(GATA2):c.1085G>A (p.Arg362Gln)SNV Likely pathogenic 623173 rs867160952 3:128200720-128200720 3:128481877-128481877
25 GATA2 NM_001145661.2(GATA2):c.1326C>T (p.His442=)SNV Conflicting interpretations of pathogenicity 343136 rs886057929 3:128199979-128199979 3:128481136-128481136
26 GATA2 NM_001145661.2(GATA2):c.204G>T (p.Ala68=)SNV Conflicting interpretations of pathogenicity 343140 rs886057932 3:128205671-128205671 3:128486828-128486828
27 GATA2 NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr)SNV Conflicting interpretations of pathogenicity 404078 rs201155045 3:128200019-128200019 3:128481176-128481176
28 GATA2 NM_001145661.2(GATA2):c.1064C>A (p.Thr355Lys)SNV Uncertain significance 404072 rs1060500085 3:128200741-128200741 3:128481898-128481898
29 GATA2 NM_001145661.2(GATA2):c.1024G>T (p.Ala342Ser)SNV Uncertain significance 404067 rs751285156 3:128200781-128200781 3:128481938-128481938
30 GATA2 NM_001145661.2(GATA2):c.682C>A (p.Pro228Thr)SNV Uncertain significance 404075 rs375298899 3:128204759-128204759 3:128485916-128485916
31 GATA2 NM_001145661.2(GATA2):c.616G>C (p.Glu206Gln)SNV Uncertain significance 404076 rs1060500087 3:128204825-128204825 3:128485982-128485982
32 GATA2 NM_001145661.2(GATA2):c.541G>A (p.Val181Met)SNV Uncertain significance 404090 rs1060500093 3:128204900-128204900 3:128486057-128486057
33 GATA2 NM_001145661.2(GATA2):c.413T>C (p.Leu138Pro)SNV Uncertain significance 404085 rs746362966 3:128205028-128205028 3:128486185-128486185
34 GATA2 NM_001145661.2(GATA2):c.1282T>A (p.Phe428Ile)SNV Uncertain significance 404074 rs909675639 3:128200023-128200023 3:128481180-128481180
35 GATA2 NM_001145661.2(GATA2):c.1200G>A (p.Met400Ile)SNV Uncertain significance 404073 rs1060500086 3:128200105-128200105 3:128481262-128481262
36 GATA2 NM_001145661.2(GATA2):c.1075T>G (p.Leu359Val)SNV Uncertain significance 404083 rs1060500091 3:128200730-128200730 3:128481887-128481887
37 GATA2 NM_001145661.2(GATA2):c.631G>C (p.Val211Leu)SNV Uncertain significance 404077 rs1060500088 3:128204810-128204810 3:128485967-128485967
38 GATA2 NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg)SNV Uncertain significance 404080 rs753645971 3:128204996-128204996 3:128486153-128486153
39 GATA2 NM_001145661.2(GATA2):c.1367C>T (p.Pro456Leu)SNV Uncertain significance 404068 rs372912472 3:128199938-128199938 3:128481095-128481095
40 GATA2 NM_001145661.2(GATA2):c.1347C>A (p.Ser449=)SNV Uncertain significance 404084 rs150052821 3:128199958-128199958 3:128481115-128481115
41 GATA2 NM_001145661.2(GATA2):c.755A>G (p.Tyr252Cys)SNV Uncertain significance 404082 rs1060500090 3:128204686-128204686 3:128485843-128485843
42 GATA2 NM_001145661.2(GATA2):c.669G>A (p.Met223Ile)SNV Uncertain significance 404079 rs140382420 3:128204772-128204772 3:128485929-128485929
43 GATA2 NM_001145661.2(GATA2):c.310G>T (p.Ala104Ser)SNV Uncertain significance 404081 rs1060500089 3:128205131-128205131 3:128486288-128486288
44 GATA2 NM_001145661.2(GATA2):c.1391G>T (p.Ser464Ile)SNV Uncertain significance 404069 rs770949428 3:128199914-128199914 3:128481071-128481071
45 GATA2 NM_001145661.2(GATA2):c.1160C>A (p.Thr387Asn)SNV Uncertain significance 404089 rs1060500092 3:128200145-128200145 3:128481302-128481302
46 GATA2 NM_001145661.2(GATA2):c.707T>C (p.Met236Thr)SNV Uncertain significance 404086 rs61754578 3:128204734-128204734 3:128485891-128485891
47 GATA2 NM_001145661.2(GATA2):c.628G>A (p.Gly210Ser)SNV Uncertain significance 404087 rs765555593 3:128204813-128204813 3:128485970-128485970
48 GATA2 NM_001145661.2(GATA2):c.299_300delinsTT (p.Gly100Val)indel Uncertain significance 404071 rs1060500084 3:128205141-128205142 3:128486298-128486299
49 GATA2 NM_001145661.2(GATA2):c.242G>C (p.Gly81Ala)SNV Uncertain significance 404070 rs1060500083 3:128205199-128205199 3:128486356-128486356
50 GATA2 NM_001145661.2(GATA2):c.1348G>A (p.Gly450Arg)SNV Uncertain significance 404088 rs370164300 3:128199957-128199957 3:128481114-128481114

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

Cosmic variations for Lymphedema, Primary, with Myelodysplasia:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97107326 NRAS skin,lower leg,benign melanocytic nevus,congenital c.181C>A p.Q61K 1:114713909-114713909 4

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

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