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

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
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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:

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: ³⁴

Neoplasms

Neoplasms of uncertain or unknown behaviour

Myelodysplastic syndromes

Other myelodysplastic syndromes

Orphanet: ⁵⁹

Rare circulatory system diseases

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

Rare haematological diseases

External Ids:

OMIM ⁵⁷ 614038

Orphanet ⁵⁹ ORPHA3226

ICD10 via Orphanet ³⁴ D46.7

MedGen ⁴² C3279664

MeSH ⁴⁴ D008209

SNOMED-CT via HPO ⁶⁹ 263681008 11731003 44593008 more

UMLS ⁷³ C3279664

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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

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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	Top Affiliating Genes
1	immunodeficiency 21	11.5
2	deafness-lymphedema-leukemia syndrome	11.2

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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%)

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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 ²⁹	GATA2

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Anatomical Context for Lymphedema, Primary, with Myelodysplasia

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

⁴¹

Bone, Bone Marrow, Myeloid, Skin, Neutrophil

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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 )	Brambila-Tapia A.J....Arnaud-Lopez L.	2017
2	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
3	First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation. ( 26767875 )	Seo S.K....Moon J.H.	2016
4	Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). ( 21892158 )	Ostergaard P....Mansour S.	2011
5	Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. ( 20803646 )	Mansour S....Murday V.	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	1355.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁹ GeneCards inferred via : Disorders Variants (show sections)	20803646 21892158
2	GATA2-AS1	GATA2 Antisense RNA 1	RNA Gene	8.54	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:

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

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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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