MCID: LYM094
MIFTS: 29

Lymphedema, Primary, with Myelodysplasia

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

Aliases & Classifications for Lymphedema, Primary, with Myelodysplasia

MalaCards integrated aliases for Lymphedema, Primary, with Myelodysplasia:

Name: Lymphedema, Primary, with Myelodysplasia 57 75 29 6 40
Emberger Syndrome 57 59 75 13 73
Deafness-Lymphedema-Leukemia Syndrome 59
Lmpm 75

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:



Summaries for Lymphedema, Primary, with Myelodysplasia

UniProtKB/Swiss-Prot : 75 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 immunodeficiency 21 and deafness-lymphedema-leukemia syndrome. An important gene associated with Lymphedema, Primary, with Myelodysplasia is GATA2 (GATA Binding Protein 2). Affiliated tissues include bone, bone marrow and myeloid, and related phenotypes are lymphedema and nausea and vomiting

Description 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:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 21 11.5
2 deafness-lymphedema-leukemia syndrome 11.2

Symptoms & Phenotypes for Lymphedema, Primary, with Myelodysplasia

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

Human phenotypes related to Lymphedema, Primary, with Myelodysplasia:

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

Drugs & Therapeutics for Lymphedema, Primary, with Myelodysplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search 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
Bone, Bone Marrow, Myeloid, Skin, Neutrophil

Publications for Lymphedema, Primary, with Myelodysplasia

Articles related to Lymphedema, Primary, with Myelodysplasia:

# Title Authors Year
1
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. ( 28271814 )
2017
2
Successful Myeloablative Matched Unrelated Donor Hematopoietic Stem Cell Transplantation in a Young Girl With GATA2 Deficiency and Emberger Syndrome. ( 28234738 )
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 Lymphedema, Primary, with Myelodysplasia

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

75
# 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 Lymphedema, Primary, with Myelodysplasia:

6
(show top 50) (show all 348)
# 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.1009C> T (p.Arg337Ter) single nucleotide variant Pathogenic rs387906632 GRCh38 Chromosome 3, 128483868: 128483868
5 GATA2 NM_001145661.1(GATA2): c.1117T> C (p.Cys373Arg) single nucleotide variant Pathogenic rs387906633 GRCh37 Chromosome 3, 128200688: 128200688
6 GATA2 NM_001145661.1(GATA2): c.1117T> C (p.Cys373Arg) single nucleotide variant Pathogenic rs387906633 GRCh38 Chromosome 3, 128481845: 128481845
7 GATA2 NM_001145661.1(GATA2): c.1082G> T (p.Arg361Leu) single nucleotide variant Pathogenic rs387906634 GRCh37 Chromosome 3, 128200723: 128200723
8 GATA2 NM_001145661.1(GATA2): c.1082G> T (p.Arg361Leu) single nucleotide variant Pathogenic rs387906634 GRCh38 Chromosome 3, 128481880: 128481880
9 GATA2 NM_032638.4(GATA2): c.1122_1125dupCCTC (p.Tyr376Profs) duplication Pathogenic rs863224874 GRCh37 Chromosome 3, 128200680: 128200683
10 GATA2 NM_032638.4(GATA2): c.1122_1125dupCCTC (p.Tyr376Profs) duplication Pathogenic rs863224874 GRCh38 Chromosome 3, 128481837: 128481840
11 GATA2 NM_032638.4(GATA2): c.1113C> A (p.Asn371Lys) single nucleotide variant Likely pathogenic rs376003468 GRCh38 Chromosome 3, 128481849: 128481849
12 GATA2 NM_032638.4(GATA2): c.1113C> A (p.Asn371Lys) single nucleotide variant Likely pathogenic rs376003468 GRCh37 Chromosome 3, 128200692: 128200692
13 GATA2 NM_032638.4(GATA2): c.*183C> T single nucleotide variant Benign/Likely benign rs45598538 GRCh37 Chromosome 3, 128199679: 128199679
14 GATA2 NM_032638.4(GATA2): c.*183C> T single nucleotide variant Benign/Likely benign rs45598538 GRCh38 Chromosome 3, 128480836: 128480836
15 GATA2 NM_032638.4(GATA2): c.1410C> T (p.Pro470=) single nucleotide variant Likely benign rs878855169 GRCh37 Chromosome 3, 128199895: 128199895
16 GATA2 NM_032638.4(GATA2): c.1410C> T (p.Pro470=) single nucleotide variant Likely benign rs878855169 GRCh38 Chromosome 3, 128481052: 128481052
17 GATA2 NM_032638.4(GATA2): c.1359G> A (p.Leu453=) single nucleotide variant Likely benign rs878855168 GRCh37 Chromosome 3, 128199946: 128199946
18 GATA2 NM_032638.4(GATA2): c.1359G> A (p.Leu453=) single nucleotide variant Likely benign rs878855168 GRCh38 Chromosome 3, 128481103: 128481103
19 GATA2 NM_032638.4(GATA2): c.1144-6C> T single nucleotide variant Likely benign rs878855167 GRCh37 Chromosome 3, 128200167: 128200167
20 GATA2 NM_032638.4(GATA2): c.1144-6C> T single nucleotide variant Likely benign rs878855167 GRCh38 Chromosome 3, 128481324: 128481324
21 GATA2 NM_032638.4(GATA2): c.1035C> G (p.Ala345=) single nucleotide variant Likely benign rs371599112 GRCh37 Chromosome 3, 128200770: 128200770
22 GATA2 NM_032638.4(GATA2): c.1035C> G (p.Ala345=) single nucleotide variant Likely benign rs371599112 GRCh38 Chromosome 3, 128481927: 128481927
23 GATA2 NM_032638.4(GATA2): c.1017+8C> T single nucleotide variant Likely benign rs200848213 GRCh37 Chromosome 3, 128202695: 128202695
24 GATA2 NM_032638.4(GATA2): c.1017+8C> T single nucleotide variant Likely benign rs200848213 GRCh38 Chromosome 3, 128483852: 128483852
25 GATA2 NM_032638.4(GATA2): c.279G> A (p.Pro93=) single nucleotide variant Benign rs142993548 GRCh37 Chromosome 3, 128205162: 128205162
26 GATA2 NM_032638.4(GATA2): c.279G> A (p.Pro93=) single nucleotide variant Benign rs142993548 GRCh38 Chromosome 3, 128486319: 128486319
27 GATA2 NM_032638.4(GATA2): c.182C> T (p.Ala61Val) single nucleotide variant Uncertain significance rs375349195 GRCh38 Chromosome 3, 128486850: 128486850
28 GATA2 NM_032638.4(GATA2): c.182C> T (p.Ala61Val) single nucleotide variant Uncertain significance rs375349195 GRCh37 Chromosome 3, 128205693: 128205693
29 GATA2 NM_032638.4(GATA2): c.142T> A (p.Phe48Ile) single nucleotide variant Uncertain significance rs878855170 GRCh37 Chromosome 3, 128205733: 128205733
30 GATA2 NM_032638.4(GATA2): c.142T> A (p.Phe48Ile) single nucleotide variant Uncertain significance rs878855170 GRCh38 Chromosome 3, 128486890: 128486890
31 GATA2 NM_032638.4(GATA2): c.136G> A (p.Asp46Asn) single nucleotide variant Uncertain significance rs370750401 GRCh37 Chromosome 3, 128205739: 128205739
32 GATA2 NM_032638.4(GATA2): c.136G> A (p.Asp46Asn) single nucleotide variant Uncertain significance rs370750401 GRCh38 Chromosome 3, 128486896: 128486896
33 GATA2 NM_032638.4(GATA2): c.121C> G (p.Pro41Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143590990 GRCh37 Chromosome 3, 128205754: 128205754
34 GATA2 NM_032638.4(GATA2): c.121C> G (p.Pro41Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143590990 GRCh38 Chromosome 3, 128486911: 128486911
35 GATA2 NM_001145661.1(GATA2): c.1233G> A (p.Ala411=) single nucleotide variant Benign/Likely benign rs34172218 GRCh37 Chromosome 3, 128200072: 128200072
36 GATA2 NM_001145661.1(GATA2): c.1233G> A (p.Ala411=) single nucleotide variant Benign/Likely benign rs34172218 GRCh38 Chromosome 3, 128481229: 128481229
37 GATA2 NM_001145661.1(GATA2): c.564G> C (p.Thr188=) single nucleotide variant Benign/Likely benign rs34870876 GRCh37 Chromosome 3, 128204877: 128204877
38 GATA2 NM_001145661.1(GATA2): c.564G> C (p.Thr188=) single nucleotide variant Benign/Likely benign rs34870876 GRCh38 Chromosome 3, 128486034: 128486034
39 GATA2 NM_001145661.1(GATA2): c.480C> T (p.Thr160=) single nucleotide variant Benign/Likely benign rs199640729 GRCh37 Chromosome 3, 128204961: 128204961
40 GATA2 NM_001145661.1(GATA2): c.480C> T (p.Thr160=) single nucleotide variant Benign/Likely benign rs199640729 GRCh38 Chromosome 3, 128486118: 128486118
41 GATA2 NM_001145661.1(GATA2): c.333C> T (p.His111=) single nucleotide variant Benign rs148554346 GRCh37 Chromosome 3, 128205108: 128205108
42 GATA2 NM_001145661.1(GATA2): c.333C> T (p.His111=) single nucleotide variant Benign rs148554346 GRCh38 Chromosome 3, 128486265: 128486265
43 GATA2 NM_001145661.1(GATA2): c.66C> G (p.Pro22=) single nucleotide variant Benign rs113384352 GRCh37 Chromosome 3, 128205809: 128205809
44 GATA2 NM_001145661.1(GATA2): c.66C> G (p.Pro22=) single nucleotide variant Benign rs113384352 GRCh38 Chromosome 3, 128486966: 128486966
45 GATA2 NM_001145661.1(GATA2): c.15C> G (p.Pro5=) single nucleotide variant Benign rs1573858 GRCh37 Chromosome 3, 128205860: 128205860
46 GATA2 NM_001145661.1(GATA2): c.15C> G (p.Pro5=) single nucleotide variant Benign rs1573858 GRCh38 Chromosome 3, 128487017: 128487017
47 GATA2 NM_032638.4(GATA2): c.*1544A> G single nucleotide variant Uncertain significance rs886057921 GRCh37 Chromosome 3, 128198318: 128198318
48 GATA2 NM_032638.4(GATA2): c.*1544A> G single nucleotide variant Uncertain significance rs886057921 GRCh38 Chromosome 3, 128479475: 128479475
49 GATA2 NM_032638.4(GATA2): c.*1173G> T single nucleotide variant Uncertain significance rs779730117 GRCh37 Chromosome 3, 128198689: 128198689
50 GATA2 NM_032638.4(GATA2): c.*1173G> T single nucleotide variant Uncertain significance rs779730117 GRCh38 Chromosome 3, 128479846: 128479846

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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