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LMPM
MCID: LYM094
MIFTS: 43

Lymphedema, Primary, with Myelodysplasia (LMPM)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Lymphedema, Primary, with Myelodysplasia

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MalaCards integrated aliases for Lymphedema, Primary, with Myelodysplasia:

Name: Lymphedema, Primary, with Myelodysplasia 57 19 73
Emberger Syndrome 57 19 58 73 38 71 75
Deafness-Lymphedema-Leukemia Syndrome 19 58 28 5
Hearing Loss-Lymphedema-Leukemia Syndrome 58
Lmpm 73

Characteristics:


Inheritance:

Lymphedema, Primary, with Myelodysplasia: Autosomal dominant 57
Deafness-Lymphedema-Leukemia Syndrome: Autosomal dominant 58

Prevelance:

Deafness-Lymphedema-Leukemia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Deafness-Lymphedema-Leukemia Syndrome: Childhood 58

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Ear diseases Skin diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare circulatory system diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


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Summaries for Lymphedema, Primary, with Myelodysplasia

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GARD: 19 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 genetic change in the GATA2 gene and it is inherited in an autosomal dominant way.

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

OMIM®: 57 Primary lymphedema with myelodysplasia, also known as Emberger syndrome, is a rare disorder characterized by childhood-onset lymphedema of the lower limbs, with lymphoscintigraphy suggestive of lymphatic vessel hypoplasia, and genital lymphatic abnormalities. Myelodysplasia is usually with monosomy 7. Multiple warts, deafness, and minor anomalies (mild hypotelorism, neck webbing, and slender fingers) may also be present (summary by Mansour et al., 2010). (614038) (Updated 08-Dec-2022)

Orphanet: 58 A rare genetic disease characterized by the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing.

UniProtKB/Swiss-Prot: 73 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.

Wikipedia: 75 The Emberger syndrome is a rare, autosomal dominant, genetic disorder caused by familial or sporadic... more...
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Related Diseases for Lymphedema, Primary, with Myelodysplasia

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 21 11.1
2 myelodysplastic syndrome 10.4
3 hereditary lymphedema i 10.4
4 primary lymphedema 10.3
5 leukemia, acute myeloid 10.2
6 aplastic anemia 10.1
7 sensorineural hearing loss 10.1
8 pancytopenia 10.1
9 myeloid leukemia 10.1
10 acute myeloid leukemia with recurrent genetic anomaly 10.1
11 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
12 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
13 graft-versus-host disease 10.0
14 respiratory failure 10.0
15 erysipelas 10.0
16 leukemia 10.0
17 cellulitis 10.0
18 childhood leukemia 10.0
19 children's interstitial lung disease 10.0
20 mesothelioma, malignant 10.0
21 benign mesothelioma 10.0
22 malignant pleural mesothelioma 10.0

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



Diseases related to Lymphedema, Primary, with Myelodysplasia
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Symptoms & Phenotypes for Lymphedema, Primary, with Myelodysplasia

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Human phenotypes related to Lymphedema, Primary, with Myelodysplasia:

58 30 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002167
2 sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000407
3 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012378
4 lymphedema 58 30 Very rare (1%) Very frequent (99-80%)
 HP:0001004
5 thrombocytopenia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001873
6 acute leukemia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002488
7 prolonged bleeding time 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003010
8 respiratory failure 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002878
9 bone marrow hypocellularity 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005528
10 abnormal neutrophil count 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011991
11 nausea and vomiting 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002017
12 splenomegaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001744
13 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002240
14 chronic otitis media 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000389
15 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002205
16 fever 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001945
17 pallor 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000980
18 vertigo 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002321
19 migraine 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002076
20 weight loss 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001824
21 bruising susceptibility 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000978
22 intracranial hemorrhage 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002170
23 visual loss 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000572
24 abnormality of the optic nerve 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000587
25 hypercoagulability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100724
26 lymphadenopathy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002716
27 leukocytosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001974
28 myeloproliferative disorder 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005547
29 webbed neck 30 Occasional (7.5%) HP:0000465
30 epicanthus 30 Occasional (7.5%) HP:0000286
31 hypotelorism 30 Occasional (7.5%) HP:0000601
32 tapered finger 30 Occasional (7.5%) HP:0001182
33 myelodysplasia 30 Very rare (1%) HP:0002863
34 verrucae 30 Very rare (1%) HP:0200043
35 acute myeloid leukemia 30 Very rare (1%) HP:0004808
36 decreased cd4:cd8 ratio 30 Very rare (1%) HP:0033222
37 leukemia 30 HP:0001909
38 cellulitis 30 HP:0100658
39 pancytopenia 30 HP:0001876

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

Sources

Drugs & Therapeutics for Lymphedema, Primary, with Myelodysplasia

About this section

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

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Genetic Tests for Lymphedema, Primary, with Myelodysplasia

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Genetic tests related to Lymphedema, Primary, with Myelodysplasia:

# Genetic test Affiliating Genes
1 Deafness-Lymphedema-Leukemia Syndrome 28 GATA2
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Anatomical Context for Lymphedema, Primary, with Myelodysplasia

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Organs/tissues related to Lymphedema, Primary, with Myelodysplasia:

MalaCards : Myeloid, Skin, Cerebellum, Bone Marrow, Liver, Heart, Brain
ODiseA: Blood And Bone Marrow
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Publications for Lymphedema, Primary, with Myelodysplasia

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Articles related to Lymphedema, Primary, with Myelodysplasia:

(show top 50) (show all 146)
# Title Authors PMID Year
1
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). 62 57 5
21892158 2011
2
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. 62 57 5
20803646 2010
3
Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome. 62 5
33370941 2020
4
Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. 62 5
29189513 2018
5
Skin manifestations among GATA2-deficient patients. 62 5
28440875 2018
6
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. 62 5
28271814 2017
7
Successful Myeloablative Matched Unrelated Donor Hematopoietic Stem Cell Transplantation in a Young Girl With GATA2 Deficiency and Emberger Syndrome. 62 5
28234738 2017
8
Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations. 62 5
26710799 2016
9
A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene. 62 5
29906059 2016
10
Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS. 62 5
26748574 2016
11
First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation. 62 5
26767875 2016
12
Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation. 62 5
26716079 2015
13
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. 62 5
25359990 2015
14
The evolution of cellular deficiency in GATA2 mutation. 62 5
24345756 2014
15
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. 62 5
24227816 2014
16
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. 62 5
22533337 2012
17
High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency. 5
33957466 2021
18
A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome. 5
33759087 2021
19
Germline variants drive myelodysplastic syndrome in young adults. 5
33510405 2021
20
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance. 5
33417088 2021
21
Diagnosis of GATA2 Deficiency in a Young Woman with Hemophagocytic Lymphohistiocytosis Triggered by Acute Systemic Cytomegalovirus Infection. 5
33684095 2021
22
Donor-derived myelodysplastic syndrome after allogeneic stem cell transplantation in a family with germline GATA2 mutation. 5
32865708 2021
23
Breaking the spatial constraint between neighboring zinc fingers: a new germline mutation in GATA2 deficiency syndrome. 5
32286542 2021
24
Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report. 5
33363905 2020
25
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency. 5
32555368 2020
26
A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability. 5
32488879 2020
27
Comparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations. 5
32088370 2020
28
Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community. 5
32135276 2020
29
GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner. 5
31710708 2020
30
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. 5
32098966 2020
31
GATA2 mutation underlies hemophagocytic lymphohistiocytosis in an adult with primary cytomegalovirus infection. 5
31350183 2020
32
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias. 5
31256854 2019
33
Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC. 5
31106410 2019
34
GATA2 Deficiency in a Pediatric Patient. 5
30894283 2019
35
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. 5
31203817 2019
36
[Clinical and molecular characteristics of GATA2 related pediatric primary myelodysplastic syndrome]. 5
31340620 2019
37
A unique phenotype of T-cell acute lymphoblastic leukemia in a patient with GATA2 haploinsufficiency. 5
30802360 2019
38
GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report. 5
31035956 2019
39
Single-nucleotide human disease mutation inactivates a blood-regenerative GATA2 enhancer. 5
30620726 2019
40
Germline Genetic Predisposition to Myeloid Neoplasia From GATA2 Gene Mutations: Lessons Learned From Two Cases. 5
32914014 2019
41
MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations. 5
30578959 2019
42
West Nile virus encephalitis in GATA2 deficiency. 5
30697248 2019
43
Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation. 5
31245276 2019
44
Pseudo-Sarcoidosis Revealing MonoMAC Syndrome. 5
30280306 2018
45
Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency-a case report and comprehensive review of the literature. 5
29947977 2018
46
A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing. 5
30030275 2018
47
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. 5
29724903 2018
48
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency. 5
29882021 2018
49
Generalized verrucosis caused by various human papillomaviruses in a patient with GATA2 deficiency. 5
29178327 2018
50
MonoMac syndrome with associated neurological deficits and longitudinally extensive cord lesion. 5
29680795 2018
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Variations for Lymphedema, Primary, with Myelodysplasia

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

5 (show top 50) (show all 1037)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA2 NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) DUP Pathogenic
Pathogenic
 29717 rs1576749168 GRCh37: 3:128205127-128205128
GRCh38: 3:128486284-128486285
2 GATA2 NM_032638.5(GATA2):c.232dup (p.Arg78fs) DUP Pathogenic
Pathogenic
 29718 rs1576749301 GRCh37: 3:128205208-128205209
GRCh38: 3:128486365-128486366
3 GATA2 NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) SNV Pathogenic
Likely Pathogenic
 29720 rs387906633 GRCh37: 3:128200688-128200688
GRCh38: 3:128481845-128481845
4 GATA2 NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu) SNV Pathogenic
Pathogenic
 29721 rs387906634 GRCh37: 3:128200723-128200723
GRCh38: 3:128481880-128481880
5 GATA2 NM_032638.5(GATA2):c.1122_1125dup (p.Tyr376fs) DUP Pathogenic
 216932 rs863224874 GRCh37: 3:128200679-128200680
GRCh38: 3:128481836-128481837
6 overlap with 5 genes NC_000003.12:g.(?_128480999)_(128912627_?)del DEL Pathogenic
 831903 GRCh37: 3:128199842-128631470
GRCh38:
7 GATA2 NC_000003.12:g.(?_128479422)_(128487076_?)del DEL Pathogenic
 417324 GRCh37: 3:128198265-128205919
GRCh38: 3:128479422-128487076
8 GATA2 NM_032638.5(GATA2):c.831del (p.Phe278fs) DEL Pathogenic
 802002 rs1576748378 GRCh37: 3:128204610-128204610
GRCh38: 3:128485767-128485767
9 overlap with 71 genes DEL Pathogenic
 1183989 GRCh37: 3:120154188-128324987
GRCh38:
10 overlap with 63 genes DEL Pathogenic
 1183990 GRCh37: 3:127927712-136889323
GRCh38:
11 overlap with 61 genes DEL Pathogenic
 1183991 GRCh37: 3:123000000-129700000
GRCh38:
12 overlap with 2 genes DEL Pathogenic
 1183992 GRCh37: 3:128170000-128230000
GRCh38:
13 GATA2 DEL Pathogenic
 1183993 GRCh37: 3:128201205-128203154
GRCh38:
14 GATA2 NM_032638.5(GATA2):c.83del (p.Gly28fs) DEL Pathogenic
 1184007 GRCh37: 3:128205792-128205792
GRCh38: 3:128486949-128486949
15 GATA2 NM_032638.5(GATA2):c.1023_1038dup (p.Thr347fs) DUP Pathogenic
 636841 rs1576745270 GRCh37: 3:128200766-128200767
GRCh38: 3:128481923-128481924
16 GATA2 NM_032638.5(GATA2):c.1073C>A (p.Thr358Asn) SNV Pathogenic
 1184008 GRCh37: 3:128200732-128200732
GRCh38: 3:128481889-128481889
17 overlap with 6 genes DEL Pathogenic
 1183986 GRCh37: 3:127889037-128565901
GRCh38:
18 overlap with 2 genes DEL Pathogenic
 1183987 GRCh37: 3:128181289-128205514
GRCh38:
19 GATA2 NM_032638.5(GATA2):c.1172_1175del (p.Glu391fs) MICROSAT Pathogenic
 1184012 GRCh37: 3:128200130-128200133
GRCh38: 3:128481287-128481290
20 GATA2 NM_032638.5(GATA2):c.1200_1216dup (p.Lys406fs) DUP Pathogenic
 1184014 GRCh37: 3:128200088-128200089
GRCh38: 3:128481245-128481246
21 GATA2 NM_032638.5(GATA2):c.1281dup (p.Phe428fs) DUP Pathogenic
 1184015 GRCh37: 3:128200023-128200024
GRCh38: 3:128481180-128481181
22 GATA2 NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg) SNV Pathogenic
 800684 rs1576744275 GRCh37: 3:128199966-128199966
GRCh38: 3:128481123-128481123
23 GATA2 NC_000003.11:g.(?_128199862)_(128205874_?)del DEL Pathogenic
 1184018 GRCh37: 3:128199862-128205874
GRCh38:
24 GATA2 NM_001145661.1(GATA2):c.-200_871+527del2032 DEL Pathogenic
 29712 GRCh37: 3:128204043-128206074
GRCh38: 3:128485200-128487231
25 GATA2 NC_000003.11:g.(?_128199862)_(128200787_?)del DEL Pathogenic
 1184019 GRCh37: 3:128199862-128200787
GRCh38:
26 GATA2 NM_032638.5(GATA2):c.17_18del (p.Glu6fs) DEL Pathogenic
 1184142 GRCh37: 3:128205857-128205858
GRCh38: 3:128487014-128487015
27 GATA2 NM_032638.5(GATA2):c.58C>T (p.Gln20Ter) SNV Pathogenic
 1184143 GRCh37: 3:128205817-128205817
GRCh38: 3:128486974-128486974
28 GATA2 NM_032638.5(GATA2):c.890_903dup (p.Ala302fs) DUP Pathogenic
 566999 rs1559986109 GRCh37: 3:128202816-128202817
GRCh38: 3:128483973-128483974
29 GATA2 NM_032638.5(GATA2):c.941_951del (p.Tyr314fs) DEL Pathogenic
 1184144 GRCh37: 3:128202769-128202779
GRCh38: 3:128483926-128483936
30 GATA2 NM_032638.5(GATA2):c.941_951dup (p.Ala318fs) DUP Pathogenic
 1184146 GRCh37: 3:128202768-128202769
GRCh38: 3:128483925-128483926
31 GATA2 NM_032638.5(GATA2):c.952G>A (p.Ala318Thr) SNV Pathogenic
 1184147 GRCh37: 3:128202768-128202768
GRCh38: 3:128483925-128483925
32 GATA2 NM_032638.5(GATA2):c.956_962del (p.Cys319fs) DEL Pathogenic
 1184148 GRCh37: 3:128202758-128202764
GRCh38: 3:128483915-128483921
33 GATA2 NM_032638.5(GATA2):c.968dup (p.His323fs) DUP Pathogenic
 1184149 GRCh37: 3:128202751-128202752
GRCh38: 3:128483908-128483909
34 GATA2 NM_032638.5(GATA2):c.982C>T (p.Gln328Ter) SNV Pathogenic
 1184150 GRCh37: 3:128202738-128202738
GRCh38: 3:128483895-128483895
35 GATA2 NM_032638.5(GATA2):c.989_992dup (p.Leu332fs) DUP Pathogenic
 1184151 GRCh37: 3:128202727-128202728
GRCh38: 3:128483884-128483885
36 GATA2 NM_032638.5(GATA2):c.970_994dup (p.Leu332fs) DUP Pathogenic
 1184152 GRCh37: 3:128202725-128202726
GRCh38: 3:128483882-128483883
37 GATA2 NM_032638.5(GATA2):c.1017+1del DEL Pathogenic
 1184153 GRCh37: 3:128202702-128202702
GRCh38: 3:128483859-128483859
38 GATA2 NM_032638.5(GATA2):c.1017+2T>G SNV Pathogenic
 1184154 GRCh37: 3:128202701-128202701
GRCh38: 3:128483858-128483858
39 GATA2 NM_032638.5(GATA2):c.1017+2T>C SNV Pathogenic
 1184155 GRCh37: 3:128202701-128202701
GRCh38: 3:128483858-128483858
40 GATA2 NM_032638.5(GATA2):c.1082G>A (p.Arg361His) SNV Pathogenic
 1184156 GRCh37: 3:128200723-128200723
GRCh38: 3:128481880-128481880
41 GATA2 NM_032638.5(GATA2):c.130G>T (p.Glu44Ter) SNV Pathogenic
 1184166 GRCh37: 3:128205745-128205745
GRCh38: 3:128486902-128486902
42 GATA2 NM_032638.5(GATA2):c.161C>A (p.Ser54Ter) SNV Pathogenic
 1184167 GRCh37: 3:128205714-128205714
GRCh38: 3:128486871-128486871
43 GATA2 NM_032638.5(GATA2):c.206_208delinsT (p.Arg69fs) INDEL Pathogenic
 1184168 GRCh37: 3:128205667-128205669
GRCh38: 3:128486824-128486826
44 GATA2 NM_032638.5(GATA2):c.207_208del (p.Val70fs) MICROSAT Pathogenic
 1184169 GRCh37: 3:128205667-128205668
GRCh38: 3:128486824-128486825
45 GATA2 NM_032638.5(GATA2):c.243delinsGC (p.Gly82fs) INDEL Pathogenic
 29714 rs869320735 GRCh37: 3:128205198-128205198
GRCh38: 3:128486355-128486355
46 GATA2 NM_032638.5(GATA2):c.257_258del (p.Arg86fs) DEL Pathogenic
 1184170 GRCh37: 3:128205183-128205184
GRCh38: 3:128486340-128486341
47 GATA2 NM_032638.5(GATA2):c.256del (p.Arg86fs) DEL Pathogenic
 1184171 GRCh37: 3:128205185-128205185
GRCh38: 3:128486342-128486342
48 GATA2 NM_032638.5(GATA2):c.302del (p.Gly101fs) DEL Pathogenic
 1184172 GRCh37: 3:128205139-128205139
GRCh38: 3:128486296-128486296
49 GATA2 NM_032638.5(GATA2):c.303del (p.Ala103fs) DEL Pathogenic
 1184173 GRCh37: 3:128205138-128205138
GRCh38: 3:128486295-128486295
50 GATA2 NM_032638.5(GATA2):c.306del (p.Ala103fs) DEL Pathogenic
 1184174 GRCh37: 3:128205135-128205135
GRCh38: 3:128486292-128486292

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

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Expression for Lymphedema, Primary, with Myelodysplasia

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

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GO Terms for Lymphedema, Primary, with Myelodysplasia

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Sources for Lymphedema, Primary, with Myelodysplasia

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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