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

LMPM MCID: LYM094 MIFTS: 31	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 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁴¹

Emberger Syndrome ⁵⁸ ⁶⁰ ⁷⁶ ¹³ ⁷⁴

Deafness-Lymphedema-Leukemia Syndrome ⁶⁰

Lmpm ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

lymphedema, primary, with myelodysplasia:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Neoplasms

Neoplasms of uncertain or unknown behaviour

Myelodysplastic syndromes

Other myelodysplastic syndromes

Orphanet: ⁶⁰

Rare circulatory system diseases

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

Rare haematological diseases

External Ids:

OMIM ⁵⁸ 614038

MeSH ⁴⁵ D008209

ICD10 via Orphanet ³⁵ D46.7

Orphanet ⁶⁰ ORPHA3226

MedGen ⁴³ C3279664

SNOMED-CT via HPO ⁷⁰ 109995007 11731003 127034005 more

UMLS ⁷⁴ C3279664

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Summaries for Lymphedema, Primary, with Myelodysplasia

UniProtKB/Swiss-Prot : ⁷⁶ 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 myeloid, bone and bone marrow, and related phenotypes are epicanthus and webbed neck

Description 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:

#	Related Disease	Score
1	immunodeficiency 21	11.5
2	deafness-lymphedema-leukemia syndrome	11.4
3	lymphedema	10.2
4	benign mesothelioma	10.1
5	malignant pleural mesothelioma	10.1
6	leukemia, acute myeloid	10.0
7	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.0
8	hematopoietic stem cell transplantation	10.0
9	leukemia	10.0
10	myeloid leukemia	10.0

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:

³³ ⁶⁰ (show all 35)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	epicanthus ³³	occasional (7.5%)		HP:0000286
2	webbed neck ³³	occasional (7.5%)		HP:0000465
3	hypotelorism ³³	occasional (7.5%)		HP:0000601
4	tapered finger ³³	occasional (7.5%)		HP:0001182
5	lymphedema ⁶⁰ ³³		Very frequent (99-80%)	HP:0001004
6	nausea and vomiting ⁶⁰		Frequent (79-30%)
7	neurological speech impairment ⁶⁰		Very frequent (99-80%)
8	chronic otitis media ⁶⁰		Frequent (79-30%)
9	splenomegaly ⁶⁰		Frequent (79-30%)
10	recurrent respiratory infections ⁶⁰		Frequent (79-30%)
11	hepatomegaly ⁶⁰		Frequent (79-30%)
12	sensorineural hearing impairment ⁶⁰		Very frequent (99-80%)
13	fever ⁶⁰		Frequent (79-30%)
14	fatigue ⁶⁰		Very frequent (99-80%)
15	pancytopenia ³³			HP:0001876
16	bone marrow hypocellularity ⁶⁰		Very frequent (99-80%)
17	hypercoagulability ⁶⁰		Frequent (79-30%)
18	pallor ⁶⁰		Frequent (79-30%)
19	myelodysplasia ³³			HP:0002863
20	weight loss ⁶⁰		Frequent (79-30%)
21	thrombocytopenia ⁶⁰		Very frequent (99-80%)
22	migraine ⁶⁰		Frequent (79-30%)
23	vertigo ⁶⁰		Frequent (79-30%)
24	visual loss ⁶⁰		Frequent (79-30%)
25	respiratory failure ⁶⁰		Very frequent (99-80%)
26	leukocytosis ⁶⁰		Occasional (29-5%)
27	cellulitis ³³			HP:0100658
28	bruising susceptibility ⁶⁰		Frequent (79-30%)
29	intracranial hemorrhage ⁶⁰		Frequent (79-30%)
30	acute leukemia ⁶⁰		Very frequent (99-80%)
31	prolonged bleeding time ⁶⁰		Very frequent (99-80%)
32	lymphadenopathy ⁶⁰		Occasional (29-5%)
33	abnormality of the optic nerve ⁶⁰		Frequent (79-30%)
34	myeloproliferative disorder ⁶⁰		Occasional (29-5%)
35	abnormal neutrophil cell number ⁶⁰		Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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

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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 ³⁰	GATA2

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Anatomical Context for Lymphedema, Primary, with Myelodysplasia

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

⁴²

Myeloid, Bone, Bone Marrow, Skin, Neutrophil

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Publications for Lymphedema, Primary, with Myelodysplasia

Articles related to Lymphedema, Primary, with Myelodysplasia:

#	Title	Authors	Year
1	Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation. ( 29189513 )	Rastogi N...Prakash Yadav S	2018
2	Emberger syndrome: A rare association with hearing loss. ( 29605372 )	Zawawi F...Cushing SL	2018
3	Successful Myeloablative Matched Unrelated Donor Hematopoietic Stem Cell Transplantation in a Young Girl With GATA2 Deficiency and Emberger Syndrome. ( 28234738 )	Ramzan M...Ali M	2017
4	GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. ( 28271814 )	Brambila-Tapia AJL...Arnaud-Lopez L	2017
5	First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation. ( 26767875 )	Seo SK...Moon JH	2016
6	A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene. ( 29906059 )	Michelini S...Bertelli M	2016
7	Errata: A Rare Case of Emberger Syndrome Caused by a De Novo Mutation in the GATA2 Gene. ( 29906369 )		2016
8	Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). ( 21892158 )	Ostergaard P...Mansour S	2011
9	Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. ( 20803646 )	Mansour S...Lymphoedema Research Consortium	2010

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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	1355.69	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Susceptibility factor ⁶⁰ GeneCards inferred via : Disorders Variants (show sections)	20803646 21892158
2	GATA2-AS1	GATA2 Antisense RNA 1	RNA Gene	8.45	GeneCards inferred via : Variants (show sections)

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Variations for Lymphedema, Primary, with Myelodysplasia

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

⁷⁶

#	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 422)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GATA2	NM_032638.4(GATA2): c.1061C> T (p.Thr354Met)	single nucleotide variant	Pathogenic	rs387906631	GRCh37	Chromosome 3, 128200744: 128200744
2	GATA2	NM_032638.4(GATA2): c.1061C> T (p.Thr354Met)	single nucleotide variant	Pathogenic	rs387906631	GRCh38	Chromosome 3, 128481901: 128481901
3	GATA2	GATA2, 2-BP INS, 310CC	insertion	Pathogenic
4	GATA2	GATA2, 1-BP INS, 230C	insertion	Pathogenic
5	GATA2	NM_001145661.1(GATA2): c.1009C> T (p.Arg337Ter)	single nucleotide variant	Pathogenic	rs387906632	GRCh37	Chromosome 3, 128202711: 128202711
6	GATA2	NM_001145661.1(GATA2): c.1009C> T (p.Arg337Ter)	single nucleotide variant	Pathogenic	rs387906632	GRCh38	Chromosome 3, 128483868: 128483868
7	GATA2	NM_001145661.1(GATA2): c.1117T> C (p.Cys373Arg)	single nucleotide variant	Pathogenic	rs387906633	GRCh37	Chromosome 3, 128200688: 128200688
8	GATA2	NM_001145661.1(GATA2): c.1117T> C (p.Cys373Arg)	single nucleotide variant	Pathogenic	rs387906633	GRCh38	Chromosome 3, 128481845: 128481845
9	GATA2	NM_001145661.1(GATA2): c.1082G> T (p.Arg361Leu)	single nucleotide variant	Pathogenic	rs387906634	GRCh37	Chromosome 3, 128200723: 128200723
10	GATA2	NM_001145661.1(GATA2): c.1082G> T (p.Arg361Leu)	single nucleotide variant	Pathogenic	rs387906634	GRCh38	Chromosome 3, 128481880: 128481880
11	GATA2	NM_032638.4(GATA2): c.371C> A (p.Thr124Lys)	single nucleotide variant	Uncertain significance	rs569301892	GRCh37	Chromosome 3, 128205070: 128205070
12	GATA2	NM_032638.4(GATA2): c.371C> A (p.Thr124Lys)	single nucleotide variant	Uncertain significance	rs569301892	GRCh38	Chromosome 3, 128486227: 128486227
13	GATA2	NM_032638.4(GATA2): c.481C> G (p.Pro161Ala)	single nucleotide variant	Benign/Likely benign	rs34799090	GRCh37	Chromosome 3, 128204960: 128204960
14	GATA2	NM_032638.4(GATA2): c.481C> G (p.Pro161Ala)	single nucleotide variant	Benign/Likely benign	rs34799090	GRCh38	Chromosome 3, 128486117: 128486117
15	GATA2	NM_001145661.1(GATA2): c.748C> G (p.Pro250Ala)	single nucleotide variant	Benign/Likely benign	rs78245253	GRCh37	Chromosome 3, 128204693: 128204693
16	GATA2	NM_001145661.1(GATA2): c.748C> G (p.Pro250Ala)	single nucleotide variant	Benign/Likely benign	rs78245253	GRCh38	Chromosome 3, 128485850: 128485850
17	GATA2	NM_001145661.1(GATA2): c.490G> A (p.Ala164Thr)	single nucleotide variant	Benign/Likely benign	rs2335052	GRCh37	Chromosome 3, 128204951: 128204951
18	GATA2	NM_001145661.1(GATA2): c.490G> A (p.Ala164Thr)	single nucleotide variant	Benign/Likely benign	rs2335052	GRCh38	Chromosome 3, 128486108: 128486108
19	GATA2	NM_032638.4(GATA2): c.787G> A (p.Gly263Arg)	single nucleotide variant	Uncertain significance	rs587778378	GRCh37	Chromosome 3, 128204654: 128204654
20	GATA2	NM_032638.4(GATA2): c.787G> A (p.Gly263Arg)	single nucleotide variant	Uncertain significance	rs587778378	GRCh38	Chromosome 3, 128485811: 128485811
21	GATA2	NM_032638.4(GATA2): c.1122_1125dupCCTC (p.Tyr376Profs)	duplication	Pathogenic	rs863224874	GRCh37	Chromosome 3, 128200680: 128200683
22	GATA2	NM_032638.4(GATA2): c.1122_1125dupCCTC (p.Tyr376Profs)	duplication	Pathogenic	rs863224874	GRCh38	Chromosome 3, 128481837: 128481840
23	GATA2	NM_032638.4(GATA2): c.1113C> A (p.Asn371Lys)	single nucleotide variant	Likely pathogenic	rs376003468	GRCh38	Chromosome 3, 128481849: 128481849
24	GATA2	NM_032638.4(GATA2): c.1113C> A (p.Asn371Lys)	single nucleotide variant	Likely pathogenic	rs376003468	GRCh37	Chromosome 3, 128200692: 128200692
25	GATA2	NM_032638.4(GATA2): c.1021_1024dupGCCG (p.Ala342Glyfs)	duplication	Likely pathogenic	rs869320770	GRCh38	Chromosome 3, 128481938: 128481941
26	GATA2	NM_032638.4(GATA2): c.1021_1024dupGCCG (p.Ala342Glyfs)	duplication	Likely pathogenic	rs869320770	GRCh37	Chromosome 3, 128200781: 128200784
27	GATA2	NM_032638.4(GATA2): c.*183C> T	single nucleotide variant	Benign/Likely benign	rs45598538	GRCh37	Chromosome 3, 128199679: 128199679
28	GATA2	NM_032638.4(GATA2): c.*183C> T	single nucleotide variant	Benign/Likely benign	rs45598538	GRCh38	Chromosome 3, 128480836: 128480836
29	GATA2	NM_032638.4(GATA2): c.1410C> T (p.Pro470=)	single nucleotide variant	Likely benign	rs878855169	GRCh37	Chromosome 3, 128199895: 128199895
30	GATA2	NM_032638.4(GATA2): c.1410C> T (p.Pro470=)	single nucleotide variant	Likely benign	rs878855169	GRCh38	Chromosome 3, 128481052: 128481052
31	GATA2	NM_032638.4(GATA2): c.1359G> A (p.Leu453=)	single nucleotide variant	Likely benign	rs878855168	GRCh37	Chromosome 3, 128199946: 128199946
32	GATA2	NM_032638.4(GATA2): c.1359G> A (p.Leu453=)	single nucleotide variant	Likely benign	rs878855168	GRCh38	Chromosome 3, 128481103: 128481103
33	GATA2	NM_032638.4(GATA2): c.1144-6C> T	single nucleotide variant	Likely benign	rs878855167	GRCh37	Chromosome 3, 128200167: 128200167
34	GATA2	NM_032638.4(GATA2): c.1144-6C> T	single nucleotide variant	Likely benign	rs878855167	GRCh38	Chromosome 3, 128481324: 128481324
35	GATA2	NM_032638.4(GATA2): c.1035C> G (p.Ala345=)	single nucleotide variant	Likely benign	rs371599112	GRCh37	Chromosome 3, 128200770: 128200770
36	GATA2	NM_032638.4(GATA2): c.1035C> G (p.Ala345=)	single nucleotide variant	Likely benign	rs371599112	GRCh38	Chromosome 3, 128481927: 128481927
37	GATA2	NM_032638.4(GATA2): c.1017+8C> T	single nucleotide variant	Likely benign	rs200848213	GRCh37	Chromosome 3, 128202695: 128202695
38	GATA2	NM_032638.4(GATA2): c.1017+8C> T	single nucleotide variant	Likely benign	rs200848213	GRCh38	Chromosome 3, 128483852: 128483852
39	GATA2	NM_032638.4(GATA2): c.279G> A (p.Pro93=)	single nucleotide variant	Benign	rs142993548	GRCh37	Chromosome 3, 128205162: 128205162
40	GATA2	NM_032638.4(GATA2): c.279G> A (p.Pro93=)	single nucleotide variant	Benign	rs142993548	GRCh38	Chromosome 3, 128486319: 128486319
41	GATA2	NM_032638.4(GATA2): c.182C> T (p.Ala61Val)	single nucleotide variant	Uncertain significance	rs375349195	GRCh38	Chromosome 3, 128486850: 128486850
42	GATA2	NM_032638.4(GATA2): c.182C> T (p.Ala61Val)	single nucleotide variant	Uncertain significance	rs375349195	GRCh37	Chromosome 3, 128205693: 128205693
43	GATA2	NM_032638.4(GATA2): c.142T> A (p.Phe48Ile)	single nucleotide variant	Uncertain significance	rs878855170	GRCh37	Chromosome 3, 128205733: 128205733
44	GATA2	NM_032638.4(GATA2): c.142T> A (p.Phe48Ile)	single nucleotide variant	Uncertain significance	rs878855170	GRCh38	Chromosome 3, 128486890: 128486890
45	GATA2	NM_032638.4(GATA2): c.136G> A (p.Asp46Asn)	single nucleotide variant	Uncertain significance	rs370750401	GRCh37	Chromosome 3, 128205739: 128205739
46	GATA2	NM_032638.4(GATA2): c.136G> A (p.Asp46Asn)	single nucleotide variant	Uncertain significance	rs370750401	GRCh38	Chromosome 3, 128486896: 128486896
47	GATA2	NM_032638.4(GATA2): c.121C> G (p.Pro41Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143590990	GRCh37	Chromosome 3, 128205754: 128205754
48	GATA2	NM_032638.4(GATA2): c.121C> G (p.Pro41Ala)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143590990	GRCh38	Chromosome 3, 128486911: 128486911
49	GATA2	NM_001145661.1(GATA2): c.1233G> A (p.Ala411=)	single nucleotide variant	Benign/Likely benign	rs34172218	GRCh37	Chromosome 3, 128200072: 128200072
50	GATA2	NM_001145661.1(GATA2): c.1233G> A (p.Ala411=)	single nucleotide variant	Benign/Likely benign	rs34172218	GRCh38	Chromosome 3, 128481229: 128481229

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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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Pathways for Lymphedema, Primary, with Myelodysplasia

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GO Terms for Lymphedema, Primary, with Myelodysplasia

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Lymphedema, Primary, with Myelodysplasia (LMPM)

Aliases & Classifications for Lymphedema, Primary, with Myelodysplasia

MalaCards integrated aliases for Lymphedema, Primary, with Myelodysplasia:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lymphedema, Primary, with Myelodysplasia

Related Diseases for Lymphedema, Primary, with Myelodysplasia

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

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

Symptoms & Phenotypes for Lymphedema, Primary, with Myelodysplasia

Human phenotypes related to Lymphedema, Primary, with Myelodysplasia:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lymphedema, Primary, with Myelodysplasia

Interventional clinical trials:

Genetic Tests for Lymphedema, Primary, with Myelodysplasia

Genetic tests related to Lymphedema, Primary, with Myelodysplasia:

Anatomical Context for Lymphedema, Primary, with Myelodysplasia

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

Publications for Lymphedema, Primary, with Myelodysplasia

Articles related to Lymphedema, Primary, with Myelodysplasia:

Genes for Lymphedema, Primary, with Myelodysplasia

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

Variations for Lymphedema, Primary, with Myelodysplasia

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

ClinVar genetic disease 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