LMPM
MCID: LYM094
MIFTS: 36

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 74 29 6 40
Emberger Syndrome 57 59 74 13 72
Deafness-Lymphedema-Leukemia Syndrome 59
Lmpm 74

Characteristics:

Orphanet epidemiological data:

59
deafness-lymphedema-leukemia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
lymphedema, primary, with myelodysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614038
MeSH 44 D008209
ICD10 via Orphanet 34 D46.7
Orphanet 59 ORPHA3226
MedGen 42 C3279664
UMLS 72 C3279664

Summaries for Lymphedema, Primary, with Myelodysplasia

UniProtKB/Swiss-Prot : 74 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 : Lymphedema, Primary, with Myelodysplasia, also known as emberger syndrome, is related to deafness-lymphedema-leukemia syndrome and immunodeficiency 21. An important gene associated with Lymphedema, Primary, with Myelodysplasia is GATA2 (GATA Binding Protein 2). Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are epicanthus and webbed neck

Wikipedia : 75 The Emberger syndrome is a rare, autosomal dominant, genetic disorder caused by familial or sporadic... more...

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 17)
# Related Disease Score Top Affiliating Genes
1 deafness-lymphedema-leukemia syndrome 11.5
2 immunodeficiency 21 11.3
3 lymphedema 10.5
4 primary lymphedema 10.4
5 benign mesothelioma 10.3
6 malignant pleural mesothelioma 10.3
7 leukemia, acute myeloid 10.2
8 branchiootic syndrome 1 10.2
9 myelodysplastic syndrome 10.2
10 pancytopenia 10.2
11 graft-versus-host disease 10.1
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
13 erysipelas 10.1
14 cellulitis 10.1
15 childhood leukemia 10.1
16 myeloid leukemia 10.1
17 hematopoietic stem cell transplantation 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:

32 59 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epicanthus 32 occasional (7.5%) HP:0000286
2 webbed neck 32 occasional (7.5%) HP:0000465
3 hypotelorism 32 occasional (7.5%) HP:0000601
4 tapered finger 32 occasional (7.5%) HP:0001182
5 lymphedema 59 32 Very frequent (99-80%) HP:0001004
6 nausea and vomiting 59 Frequent (79-30%)
7 neurological speech impairment 59 Very frequent (99-80%)
8 chronic otitis media 59 Frequent (79-30%)
9 splenomegaly 59 Frequent (79-30%)
10 recurrent respiratory infections 59 Frequent (79-30%)
11 hepatomegaly 59 Frequent (79-30%)
12 sensorineural hearing impairment 59 Very frequent (99-80%)
13 fever 59 Frequent (79-30%)
14 fatigue 59 Very frequent (99-80%)
15 pancytopenia 32 HP:0001876
16 bone marrow hypocellularity 59 Very frequent (99-80%)
17 hypercoagulability 59 Frequent (79-30%)
18 pallor 59 Frequent (79-30%)
19 myelodysplasia 32 HP:0002863
20 weight loss 59 Frequent (79-30%)
21 thrombocytopenia 59 Very frequent (99-80%)
22 migraine 59 Frequent (79-30%)
23 vertigo 59 Frequent (79-30%)
24 visual loss 59 Frequent (79-30%)
25 respiratory failure 59 Very frequent (99-80%)
26 leukocytosis 59 Occasional (29-5%)
27 cellulitis 32 HP:0100658
28 bruising susceptibility 59 Frequent (79-30%)
29 intracranial hemorrhage 59 Frequent (79-30%)
30 acute leukemia 59 Very frequent (99-80%)
31 prolonged bleeding time 59 Very frequent (99-80%)
32 lymphadenopathy 59 Occasional (29-5%)
33 abnormality of the optic nerve 59 Frequent (79-30%)
34 myeloproliferative disorder 59 Occasional (29-5%)
35 abnormal neutrophil count 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
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:

41
Myeloid, Bone, Bone Marrow, Skin, Neutrophil

Publications for Lymphedema, Primary, with Myelodysplasia

Articles related to Lymphedema, Primary, with Myelodysplasia:

(show all 23)
# Title Authors PMID Year
1
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 38 8 71
21892158 2011
2
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. 38 8 71
20803646 2010
3
[Association of idiopathic lymphedema and familial acute leukemia. Apropos of a new case]. 8
3157947 1985
4
[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. 8
295075 1979
5
Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. 38
29189513 2018
6
Emberger syndrome: A rare association with hearing loss. 38
29605372 2018
7
Skin manifestations among GATA2-deficient patients. 38
28440875 2018
8
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. 38
28271814 2017
9
GATA2 deficiency and related myeloid neoplasms. 38
28637621 2017
10
Successful Myeloablative Matched Unrelated Donor Hematopoietic Stem Cell Transplantation in a Young Girl With GATA2 Deficiency and Emberger Syndrome. 38
28234738 2017
11
Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations. 38
26710799 2016
12
Errata: A Rare Case of Emberger Syndrome Caused by a De Novo Mutation in the GATA2 Gene. 38
29906369 2016
13
Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS. 38
26748574 2016
14
A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene. 38
29906059 2016
15
First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation. 38
26767875 2016
16
GATA2 is required for lymphatic vessel valve development and maintenance. 38
26214525 2015
17
Lymphatic vessel development: fluid flow and valve-forming cells. 38
26214518 2015
18
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. 38
25359990 2015
19
Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation. 38
26716079 2015
20
[GATA2 deficiency]. 38
25509816 2014
21
The evolution of cellular deficiency in GATA2 mutation. 38
24345756 2014
22
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. 38
24227816 2014
23
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. 38
22533337 2012

Variations for Lymphedema, Primary, with Myelodysplasia

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

6 (show top 50) (show all 269)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GATA2 NC_000003.11: g.(?_128198265)_(128205919_?)del deletion Pathogenic 3:128198265-128205919 3:128479422-128487076
2 GATA2 NM_032638.4(GATA2): c.1187G> A (p.Arg396Gln) single nucleotide variant Pathogenic rs1553770434 3:128200118-128200118 3:128481275-128481275
3 GATA2 NM_032638.4(GATA2): c.649_653dup (p.Glu219_Ser220insTer) duplication Pathogenic rs1553770949 3:128204788-128204792 3:128485945-128485949
4 GATA2 NM_032638.4(GATA2): c.1061C> T (p.Thr354Met) single nucleotide variant Pathogenic rs387906631 3:128200744-128200744 3:128481901-128481901
5 GATA2 GATA2, 2-BP INS, 310CC insertion Pathogenic
6 GATA2 GATA2, 1-BP INS, 230C insertion Pathogenic
7 GATA2 NM_032638.4(GATA2): c.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs387906632 3:128202711-128202711 3:128483868-128483868
8 GATA2 NM_032638.4(GATA2): c.1117T> C (p.Cys373Arg) single nucleotide variant Pathogenic rs387906633 3:128200688-128200688 3:128481845-128481845
9 GATA2 NM_032638.4(GATA2): c.1082G> T (p.Arg361Leu) single nucleotide variant Pathogenic rs387906634 3:128200723-128200723 3:128481880-128481880
10 GATA2 NM_032638.4(GATA2): c.1122_1125dup (p.Tyr376fs) duplication Pathogenic rs863224874 3:128200680-128200683 3:128481837-128481840
11 GATA2 NM_032638.4(GATA2): c.890_903dup (p.Ala302fs) duplication Pathogenic 3:128202817-128202830 3:128483974-128483987
12 GATA2 NC_000003.11: g.(?_128205636)_(128205884_?)del deletion Pathogenic 3:128205636-128205884 3:128486793-128487041
13 GATA2 NM_032638.4(GATA2): c.818dup (p.Pro274fs) duplication Pathogenic 3:128204623-128204623 3:128485780-128485780
14 GATA2 NM_032638.4(GATA2): c.971del (p.Lys324fs) deletion Pathogenic 3:128202749-128202749 3:128483907-128483907
15 GATA2 NM_032638.4(GATA2): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic 3:128202732-128202732 3:128483889-128483889
16 GATA2 NM_032638.4(GATA2): c.1085G> A (p.Arg362Gln) single nucleotide variant Likely pathogenic 3:128200720-128200720 3:128481877-128481877
17 GATA2 NM_032638.4(GATA2): c.1017+572C> T single nucleotide variant Likely pathogenic 3:128202131-128202131 3:128483288-128483288
18 GATA2 NM_032638.4(GATA2): c.1113C> A (p.Asn371Lys) single nucleotide variant Likely pathogenic rs376003468 3:128200692-128200692 3:128481849-128481849
19 GATA2 NM_032638.4(GATA2): c.1021_1024dup (p.Ala342fs) duplication Likely pathogenic rs869320770 3:128200781-128200784 3:128481938-128481941
20 GATA2 NM_032638.4(GATA2): c.1081C> T (p.Arg361Cys) single nucleotide variant Likely pathogenic rs1426175410 3:128200724-128200724 3:128481881-128481881
21 GATA2 NM_032638.4(GATA2): c.1035C> T (p.Ala345=) single nucleotide variant Conflicting interpretations of pathogenicity rs371599112 3:128200770-128200770 3:128481927-128481927
22 GATA2 NM_032638.4(GATA2): c.121C> G (p.Pro41Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143590990 3:128205754-128205754 3:128486911-128486911
23 GATA2 NM_032638.4(GATA2): c.1326C> T (p.His442=) single nucleotide variant Conflicting interpretations of pathogenicity rs886057929 3:128199979-128199979 3:128481136-128481136
24 GATA2 NM_032638.4(GATA2): c.724A> G (p.Thr242Ala) single nucleotide variant Uncertain significance rs886057931 3:128204717-128204717 3:128485874-128485874
25 GATA2 NM_032638.4(GATA2): c.204G> T (p.Ala68=) single nucleotide variant Uncertain significance rs886057932 3:128205671-128205671 3:128486828-128486828
26 GATA2 NM_032638.4(GATA2): c.-42C> G single nucleotide variant Uncertain significance rs886057933 3:128205916-128205916 3:128487073-128487073
27 GATA2 NM_032638.4(GATA2): c.-215C> T single nucleotide variant Uncertain significance rs886057936 3:128211911-128211911 3:128493068-128493068
28 GATA2 NM_032638.4(GATA2): c.*697C> T single nucleotide variant Uncertain significance rs45437196 3:128199165-128199165 3:128480322-128480322
29 GATA2 NM_032638.4(GATA2): c.*1544A> G single nucleotide variant Uncertain significance rs886057921 3:128198318-128198318 3:128479475-128479475
30 GATA2 NM_032638.4(GATA2): c.*1173G> T single nucleotide variant Uncertain significance rs779730117 3:128198689-128198689 3:128479846-128479846
31 GATA2 NM_032638.4(GATA2): c.*84A> G single nucleotide variant Uncertain significance rs886057927 3:128199778-128199778 3:128480935-128480935
32 GATA2 NM_032638.4(GATA2): c.800C> T (p.Pro267Leu) single nucleotide variant Uncertain significance rs886057930 3:128204641-128204641 3:128485798-128485798
33 GATA2 NM_032638.4(GATA2): c.-5C> T single nucleotide variant Uncertain significance rs374415484 3:128205879-128205879 3:128487036-128487036
34 GATA2 NM_032638.4(GATA2): c.*1543T> C single nucleotide variant Uncertain significance rs886057922 3:128198319-128198319 3:128479476-128479476
35 GATA2 NM_032638.4(GATA2): c.*1144G> A single nucleotide variant Uncertain significance rs886057923 3:128198718-128198718 3:128479875-128479875
36 GATA2 NM_032638.4(GATA2): c.1160C> A (p.Thr387Asn) single nucleotide variant Uncertain significance rs1060500092 3:128200145-128200145 3:128481302-128481302
37 GATA2 NM_032638.4(GATA2): c.182C> T (p.Ala61Val) single nucleotide variant Uncertain significance rs375349195 3:128205693-128205693 3:128486850-128486850
38 GATA2 NM_032638.4(GATA2): c.142T> A (p.Phe48Ile) single nucleotide variant Uncertain significance rs878855170 3:128205733-128205733 3:128486890-128486890
39 GATA2 NM_032638.4(GATA2): c.136G> A (p.Asp46Asn) single nucleotide variant Uncertain significance rs370750401 3:128205739-128205739 3:128486896-128486896
40 GATA2 NM_032638.4(GATA2): c.371C> A (p.Thr124Lys) single nucleotide variant Uncertain significance rs569301892 3:128205070-128205070 3:128486227-128486227
41 GATA2 NM_032638.4(GATA2): c.1391G> T (p.Ser464Ile) single nucleotide variant Uncertain significance rs770949428 3:128199914-128199914 3:128481071-128481071
42 GATA2 NM_032638.4(GATA2): c.1347C> A (p.Ser449=) single nucleotide variant Uncertain significance rs150052821 3:128199958-128199958 3:128481115-128481115
43 GATA2 NM_032638.4(GATA2): c.1367C> T (p.Pro456Leu) single nucleotide variant Uncertain significance rs372912472 3:128199938-128199938 3:128481095-128481095
44 GATA2 NM_032638.4(GATA2): c.1075T> G (p.Leu359Val) single nucleotide variant Uncertain significance rs1060500091 3:128200730-128200730 3:128481887-128481887
45 GATA2 NM_032638.4(GATA2): c.1200G> A (p.Met400Ile) single nucleotide variant Uncertain significance rs1060500086 3:128200105-128200105 3:128481262-128481262
46 GATA2 NM_032638.4(GATA2): c.1282T> A (p.Phe428Ile) single nucleotide variant Uncertain significance rs909675639 3:128200023-128200023 3:128481180-128481180
47 GATA2 NM_032638.4(GATA2): c.413T> C (p.Leu138Pro) single nucleotide variant Uncertain significance rs746362966 3:128205028-128205028 3:128486185-128486185
48 GATA2 NM_032638.4(GATA2): c.541G> A (p.Val181Met) single nucleotide variant Uncertain significance rs1060500093 3:128204900-128204900 3:128486057-128486057
49 GATA2 NM_032638.4(GATA2): c.616G> C (p.Glu206Gln) single nucleotide variant Uncertain significance rs1060500087 3:128204825-128204825 3:128485982-128485982
50 GATA2 NM_032638.4(GATA2): c.682C> A (p.Pro228Thr) single nucleotide variant Uncertain significance rs375298899 3:128204759-128204759 3:128485916-128485916

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

74
# 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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