Lymphedema, Primary, with Myelodysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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

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:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

lymphedema, primary, with myelodysplasia:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Cardiovascular diseases Ear diseases Skin diseases Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Neoplasms

Neoplasms of uncertain or unknown behaviour

Myelodysplastic syndromes

Other myelodysplastic syndromes

Orphanet: ⁵⁸

Rare circulatory system diseases

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

Rare haematological diseases

External Ids:

OMIM ⁵⁶ 614038

MeSH ⁴³ D008209

ICD10 via Orphanet ³³ D46.7

Orphanet ⁵⁸ ORPHA3226

MedGen ⁴¹ C3279664

UMLS ⁷¹ C3279664

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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 hereditary lymphedema i. 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

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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 16)

#	Related Disease	Score
1	immunodeficiency 21	11.3
2	hereditary lymphedema i	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	myeloid leukemia	10.2
11	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.1
12	graft-versus-host disease	10.1
13	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.1
14	erysipelas	10.1
15	cellulitis	10.1
16	childhood leukemia	10.1

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

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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	splenomegaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001744
12	hepatomegaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002240
13	chronic otitis media ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000389
14	recurrent respiratory infections ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002205
15	fever ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001945
16	weight loss ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001824
17	nausea and vomiting ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002017
18	pallor ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000980
19	vertigo ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002321
20	migraine ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002076
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:

⁵⁶

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

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Drugs & Therapeutics for Lymphedema, Primary, with Myelodysplasia

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

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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

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Anatomical Context for Lymphedema, Primary, with Myelodysplasia

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

⁴⁰

Eye, Skin, Brain, Cerebellum, Heart, Liver, Bone Marrow

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Publications for Lymphedema, Primary, with Myelodysplasia

Articles related to Lymphedema, Primary, with Myelodysplasia:

(show all 25)

#	Title	Authors	PMID	Year
1	Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). ⁶¹ ⁵⁶ ⁶ ⁵²	Ostergaard P...Mansour S	21892158	2011
2	Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. ⁵⁶ ⁶ ⁵² ⁶¹	Mansour S...Lymphoedema Research Consortium	20803646	2010
3	[Association of idiopathic lymphedema and familial acute leukemia. Apropos of a new case]. ⁵⁶	Attal M...Pris J	3157947	1985
4	[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. ⁵⁶	Emberger JM...Izarn P	295075	1979
5	Familial emberger syndrome with autoimmunity, hyper-immunoglobulin E and lymphatic impairment caused by a novel GATA2 mutation. ⁶¹	AlGassim M...Sheikh F	32497548	2020
6	[Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl]. ⁶¹	Chen LL...Chen KK	31753093	2019
7	Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. ⁶¹	Rastogi N...Prakash Yadav S	29189513	2018
8	Emberger syndrome: A rare association with hearing loss. ⁶¹	Zawawi F...Cushing SL	29605372	2018
9	Skin manifestations among GATA2-deficient patients. ⁶¹	Polat A...Dupuy A	28440875	2018
10	GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. ⁶¹	Brambila-Tapia AJL...Arnaud-Lopez L	28271814	2017
11	Successful Myeloablative Matched Unrelated Donor Hematopoietic Stem Cell Transplantation in a Young Girl With GATA2 Deficiency and Emberger Syndrome. ⁶¹	Ramzan M...Ali M	28234738	2017
12	GATA2 deficiency and related myeloid neoplasms. ⁶¹	Wlodarski MW...Horwitz MS	28637621	2017
13	Errata: A Rare Case of Emberger Syndrome Caused by a De Novo Mutation in the GATA2 Gene. ⁶¹		29906369	2016
14	Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations. ⁶¹	Maciejewski-Duval A...Bachelerie F	26710799	2016
15	Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS. ⁶¹	Saida S...Adachi S	26748574	2016
16	A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene. ⁶¹	Michelini S...Bertelli M	29906059	2016
17	First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation. ⁶¹	Seo SK...Moon JH	26767875	2016
18	GATA2 is required for lymphatic vessel valve development and maintenance. ⁶¹	Kazenwadel J...Harvey NL	26214525	2015
19	Lymphatic vessel development: fluid flow and valve-forming cells. ⁶¹	Kume T	26214518	2015
20	Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation. ⁶¹	Lubking A...Cammenga J	26716079	2015
21	GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. ⁶¹	Ganapathi KA...Calvo KR	25359990	2015
22	[GATA2 deficiency]. ⁶¹	Nonoyama S	25509816	2014
23	GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. ⁶¹	Spinner MA...Holland SM	24227816	2014
24	The evolution of cellular deficiency in GATA2 mutation. ⁶¹	Dickinson RE...Collin M	24345756	2014
25	Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. ⁶¹	Holme H...Dokal I	22533337	2012

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Genes for Lymphedema, Primary, with Myelodysplasia

Genes related to Lymphedema, Primary, with Myelodysplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GATA2	GATA Binding Protein 2	Protein Coding	1345.95	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Susceptibility factor ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	20803646 21892158
2	GATA2-AS1	GATA2 Antisense RNA 1	RNA Gene	8.41	GeneCards inferred via : Variants (show sections)

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Variations for Lymphedema, Primary, with Myelodysplasia

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

⁶ (show top 50) (show all 369) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GATA2	NC_000003.12:g.(?_128479422)_(128487076_?)del	deletion	Pathogenic	417324		3:128198265-128205919	3:128479422-128487076
2	GATA2	NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln)	SNV	Pathogenic	472437	rs1553770434	3:128200118-128200118	3:128481275-128481275
3	GATA2	NM_001145661.2(GATA2):c.890_903dup (p.Ala302fs)	duplication	Pathogenic	566999	rs1559986109	3:128202816-128202817	3:128483973-128483974
4	GATA2	NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter)	SNV	Pathogenic	640197		3:128202732-128202732	3:128483889-128483889
5	GATA2	NM_032638.5(GATA2):c.971del (p.Lys324fs)	deletion	Pathogenic	646586		3:128202749-128202749	3:128483906-128483906
6	GATA2	NM_001145661.2(GATA2):c.1017+572C>T	SNV	Pathogenic	566562	rs1559985787	3:128202131-128202131	3:128483288-128483288
7	GATA2	NM_001145661.2(GATA2):c.818dup (p.Pro274fs)	duplication	Pathogenic	574716	rs1559986946	3:128204622-128204623	3:128485779-128485780
8	GATA2	NC_000003.12:g.(?_128486793)_(128487041_?)del	deletion	Pathogenic	657370		3:128205636-128205884	3:128486793-128487041
9	GATA2	NM_032638.5(GATA2):c.831del (p.Phe278fs)	deletion	Pathogenic	802002		3:128204610-128204610	3:128485767-128485767
10	GATA2	NC_000003.12:g.(?_128480999)_(128912627_?)del	deletion	Pathogenic	831903		3:128199842-128631470
11	GATA2	NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter)	SNV	Pathogenic	854097		3:128205659-128205659	3:128486816-128486816
12	GATA2	NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met)	SNV	Pathogenic	29711	rs387906631	3:128200744-128200744	3:128481901-128481901
13	GATA2	NM_032638.5(GATA2):c.312_313dup (p.Leu105fs)	duplication	Pathogenic	29717		3:128205127-128205128	3:128486284-128486285
14	GATA2	NM_032638.5(GATA2):c.232dup (p.Arg78fs)	duplication	Pathogenic	29718		3:128205208-128205209	3:128486365-128486366
15	GATA2	NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter)	SNV	Pathogenic	29719	rs387906632	3:128202711-128202711	3:128483868-128483868
16	GATA2	NM_001145661.2(GATA2):c.1117T>C (p.Cys373Arg)	SNV	Pathogenic	29720	rs387906633	3:128200688-128200688	3:128481845-128481845
17	GATA2	NM_001145661.2(GATA2):c.1082G>T (p.Arg361Leu)	SNV	Pathogenic	29721	rs387906634	3:128200723-128200723	3:128481880-128481880
18	GATA2	NM_001145661.2(GATA2):c.1122_1125dup (p.Tyr376fs)	duplication	Pathogenic	216932	rs863224874	3:128200679-128200680	3:128481836-128481837
19	GATA2	NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter)	SNV	Pathogenic/Likely pathogenic	800674		3:128200778-128200778	3:128481935-128481935
20	GATA2	NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer)	duplication	Pathogenic/Likely pathogenic	539711	rs1553770949	3:128204787-128204788	3:128485944-128485945
21	GATA2	NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter)	SNV	Pathogenic/Likely pathogenic	435281	rs1553770510	3:128200721-128200721	3:128481878-128481878
22	GATA2	NM_001145661.2(GATA2):c.1081C>T (p.Arg361Cys)	SNV	Likely pathogenic	472431	rs1426175410	3:128200724-128200724	3:128481881-128481881
23	GATA2	NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr)	SNV	Likely pathogenic	802000		3:128200759-128200759	3:128481916-128481916
24	GATA2	NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)	SNV	Likely pathogenic	802001		3:128200760-128200760	3:128481917-128481917
25	GATA2	NM_001145661.2(GATA2):c.1113C>A (p.Asn371Lys)	SNV	Likely pathogenic	216931	rs376003468	3:128200692-128200692	3:128481849-128481849
26	GATA2	NM_001145661.2(GATA2):c.1021_1024dup (p.Ala342fs)	duplication	Likely pathogenic	225277	rs869320770	3:128200780-128200781	3:128481937-128481938
27	GATA2	NM_001145661.2(GATA2):c.1085G>A (p.Arg362Gln)	SNV	Likely pathogenic	623173	rs867160952	3:128200720-128200720	3:128481877-128481877
28	GATA2	NM_032638.5(GATA2):c.872-1G>C	SNV	Likely pathogenic	835953		3:128202849-128202849	3:128484006-128484006
29	GATA2	NM_032638.5(GATA2):c.315C>G (p.Leu105=)	SNV	Conflicting interpretations of pathogenicity	761606		3:128205126-128205126	3:128486283-128486283
30	GATA2	NM_001145661.2(GATA2):c.279G>A (p.Pro93=)	SNV	Conflicting interpretations of pathogenicity	241722	rs142993548	3:128205162-128205162	3:128486319-128486319
31	GATA2	NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg)	SNV	Conflicting interpretations of pathogenicity	404080	rs753645971	3:128204996-128204996	3:128486153-128486153
32	GATA2	NM_001145661.2(GATA2):c.1035C>T (p.Ala345=)	SNV	Conflicting interpretations of pathogenicity	412763	rs371599112	3:128200770-128200770	3:128481927-128481927
33	GATA2	NM_001145661.2(GATA2):c.1416G>A (p.Pro472=)	SNV	Conflicting interpretations of pathogenicity	412762	rs376805544	3:128199889-128199889	3:128481046-128481046
34	GATA2	NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr)	SNV	Conflicting interpretations of pathogenicity	404078	rs201155045	3:128200019-128200019	3:128481176-128481176
35	GATA2	NM_001145661.2(GATA2):c.1023C>T (p.Ala341=)	SNV	Conflicting interpretations of pathogenicity	472427	rs376360090	3:128200782-128200782	3:128481939-128481939
36	GATA2	NM_001145661.2(GATA2):c.121C>G (p.Pro41Ala)	SNV	Conflicting interpretations of pathogenicity	241716	rs143590990	3:128205754-128205754	3:128486911-128486911
37	GATA2	NM_001145661.2(GATA2):c.204G>T (p.Ala68=)	SNV	Conflicting interpretations of pathogenicity	343140	rs886057932	3:128205671-128205671	3:128486828-128486828
38	GATA2	NM_001145661.2(GATA2):c.1326C>T (p.His442=)	SNV	Conflicting interpretations of pathogenicity	343136	rs886057929	3:128199979-128199979	3:128481136-128481136
39	GATA2	NM_001145661.2(GATA2):c.724A>G (p.Thr242Ala)	SNV	Uncertain significance	343138	rs886057931	3:128204717-128204717	3:128485874-128485874
40	GATA2	NM_001145661.2(GATA2):c.*884A>T	SNV	Uncertain significance	343115	rs886057924	3:128198978-128198978	3:128480135-128480135
41	GATA2	NM_001145661.2(GATA2):c.*420G>A	SNV	Uncertain significance	343125	rs557984557	3:128199442-128199442	3:128480599-128480599
42	GATA2	NM_001145661.2(GATA2):c.*84A>G	SNV	Uncertain significance	343132	rs886057927	3:128199778-128199778	3:128480935-128480935
43	GATA2	NM_001145661.2(GATA2):c.800C>T (p.Pro267Leu)	SNV	Uncertain significance	343137	rs886057930	3:128204641-128204641	3:128485798-128485798
44	GATA2	NM_001145661.2(GATA2):c.-5C>T	SNV	Uncertain significance	343142	rs374415484	3:128205879-128205879	3:128487036-128487036
45	GATA2	NM_001145661.2(GATA2):c.*1543T>C	SNV	Uncertain significance	343110	rs886057922	3:128198319-128198319	3:128479476-128479476
46	GATA2	NM_001145661.2(GATA2):c.*1144G>A	SNV	Uncertain significance	343113	rs886057923	3:128198718-128198718	3:128479875-128479875
47	GATA2	NM_001145661.2(GATA2):c.-42C>G	SNV	Uncertain significance	343143	rs886057933	3:128205916-128205916	3:128487073-128487073
48	GATA2	NM_032638.4(GATA2):c.-215C>T	SNV	Uncertain significance	343147	rs886057936	3:128211911-128211911	3:128493068-128493068
49	GATA2	NM_001145661.2(GATA2):c.*174G>A	SNV	Uncertain significance	343129	rs373617135	3:128199688-128199688	3:128480845-128480845
50	GATA2	NM_001145661.2(GATA2):c.*32C>T	SNV	Uncertain significance	343134	rs374495352	3:128199830-128199830	3:128480987-128480987

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

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Expression for Lymphedema, Primary, with Myelodysplasia

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

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Sources for Lymphedema, Primary, with Myelodysplasia

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⁷⁴ Wikipedia

Lymphedema, Primary, with Myelodysplasia (LMPM)

Aliases & Classifications for Lymphedema, Primary, with Myelodysplasia

MalaCards integrated aliases for Lymphedema, Primary, with Myelodysplasia:

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Summaries for Lymphedema, Primary, with Myelodysplasia

Related Diseases for Lymphedema, Primary, with Myelodysplasia

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

Symptoms & Phenotypes for Lymphedema, Primary, with Myelodysplasia

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Variations for Lymphedema, Primary, with Myelodysplasia

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

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

Cosmic variations for Lymphedema, Primary, with Myelodysplasia:

Expression for Lymphedema, Primary, with Myelodysplasia

Pathways for Lymphedema, Primary, with Myelodysplasia

GO Terms for Lymphedema, Primary, with Myelodysplasia

Sources for Lymphedema, Primary, with Myelodysplasia