MCID: PRM327
MIFTS: 39

Primary Lymphedema

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

Aliases & Classifications for Primary Lymphedema

MalaCards integrated aliases for Primary Lymphedema:

Name: Primary Lymphedema 59
Troncular Lymphatic Malformation 59
Lymphedema Primary 55

Characteristics:

Orphanet epidemiological data:

59
primary lymphedema
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

ICD10 via Orphanet 34 I89.0
Orphanet 59 ORPHA77240

Summaries for Primary Lymphedema

MalaCards based summary : Primary Lymphedema, also known as troncular lymphatic malformation, is related to congenital lymphedema and lymphedema. An important gene associated with Primary Lymphedema is FLT4 (Fms Related Tyrosine Kinase 4), and among its related pathways/superpathways are G-protein signaling RAC1 in cellular process and Signaling events mediated by VEGFR1 and VEGFR2. The drugs Propranolol and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include lymph node, skin and endothelial, and related phenotypes are cardiovascular system and embryo

Wikipedia : 75 Primary lymphedema is a form of lymphedema which is not directly attributable to another medical... more...

Related Diseases for Primary Lymphedema

Diseases in the Lymphedema family:

Hereditary Lymphedema Hereditary Lymphedema Ic
Hereditary Lymphedema Id Hereditary Lymphedema Ia
Hereditary Lymphedema Ib Hereditary Lymphedema I
Hereditary Lymphedema Ii Congenital Lymphedema
Primary Lymphedema

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 congenital lymphedema 30.0 VEGFC FOXC2 FLT4
2 lymphedema 30.0 VEGFC GJC2 FOXC2 FLT4
3 lymphangiosarcoma 29.9 VEGFC FLT4
4 lymphangioma 29.9 VEGFC FLT4
5 hereditary lymphedema 29.8 VEGFC FOXC2 FLT4
6 hennekam syndrome 29.7 VEGFC FLT4
7 klippel-trenaunay-weber syndrome 29.4 FOXC2 FLT4
8 lymphatic system disease 29.1 VEGFC FOXC2 FLT4
9 obsolete: congenital primary lymphedema 12.2
10 obsolete: late-onset primary lymphedema 12.2
11 genetic primary lymphedema 12.2
12 primary lymphedema with associated anomalies 12.2
13 lymphatic malformation 1 12.1
14 lymphatic malformation 5 12.1
15 lymphatic malformation 3 11.6
16 yellow nail syndrome 11.5
17 lymphatic malformation 2 11.5
18 lymphatic malformation 4 11.5
19 hereditary lymphedema i 11.2
20 lymphatic malformation 6 11.2
21 lymphatic malformation 7 11.2
22 hereditary lymphedema ii 11.2
23 cellulitis 10.3
24 hydrops, lactic acidosis, and sideroblastic anemia 10.2
25 lymphedema-distichiasis syndrome 10.1
26 gorham's disease 10.1 VEGFC FLT4
27 distichiasis 10.1
28 chylothorax, congenital 10.0 FOXC2 FLT4
29 lymphedema, primary, with myelodysplasia 10.0
30 angiosarcoma 10.0
31 erysipelas 10.0
32 deafness-lymphedema-leukemia syndrome 10.0
33 lymphangiectasis 10.0
34 leukemia, acute myeloid 9.9
35 ptosis 9.9
36 nephrotic syndrome 9.9
37 elephantiasis 9.9
38 cleft lip 9.9
39 lymphatic malformations 9.9
40 cleft lip/palate 9.9
41 rare lymphatic malformation 9.9
42 overgrowth syndrome 9.9
43 breast carcinoma in situ 9.9 VEGFC FLT4
44 beckwith-wiedemann syndrome 9.8
45 lipomatosis, multiple 9.8
46 nevus anemicus 9.8
47 noonan syndrome 1 9.8
48 thrombophilia due to thrombin defect 9.8
49 digeorge syndrome 9.8
50 varicose veins 9.8

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



Diseases related to Primary Lymphedema

Symptoms & Phenotypes for Primary Lymphedema

MGI Mouse Phenotypes related to Primary Lymphedema:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 EPHB4 FLT4 FOXC2 PIEZO1 VEGFC
2 embryo MP:0005380 9.46 EPHB4 FLT4 FOXC2 PIEZO1
3 immune system MP:0005387 9.43 EPHB4 FLT4 FOXC2 GJC2 PIEZO1 VEGFC
4 mortality/aging MP:0010768 9.1 EPHB4 FLT4 FOXC2 GJC2 PIEZO1 VEGFC

Drugs & Therapeutics for Primary Lymphedema

Drugs for Primary Lymphedema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2 525-66-6 4946
2 Antihypertensive Agents Phase 2
3 Adrenergic beta-Antagonists Phase 2
4 Neurotransmitter Agents Phase 2
5 Adrenergic Antagonists Phase 2
6 Adrenergic Agents Phase 2
7 Anti-Arrhythmia Agents Phase 2
8 Vasodilator Agents Phase 2
9 insulin
10 Insulin, Globin Zinc
11 Hypoglycemic Agents
12 Anesthetics
13 Complement System Proteins
14 Vitamins

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Prospective Randomized Single Blind Phase III Trial Comparing Flexitouch Home Maintenance Therapy to Standard Home Maintenance Therapy for Lower Extremity Lymphedema Resulting From Treatment of Gynecologic Malignancy Terminated NCT00577317 Phase 3
2 Assessment of Lymphatic Structure and Function Pre- and Post- Treatment and During Recovery in Head and Neck Cancer Patients Using NIR Fluorescence Lymphatic Imaging Completed NCT02946021 Phase 1, Phase 2 NIRFLI with ICG
3 An Intra-patient Dose Escalation Study of Propranolol in Patients With Lymphedema Recruiting NCT02595996 Phase 2 Propranolol
4 Reducing Extremity Lymphedema Through Axillary Lymphatic Preservation Surgery Terminated NCT00932035 Phase 1, Phase 2 isosulfan blue based lymphatic mapping
5 Validation of Metrological Properties of Questionnaire of Quality of Life LYMPHOQOL Unknown status NCT01922635
6 The LymphEdema and Gynecologic Cancer (LEG) Study: Incidence, Risk Factors, and Impact in Newly Diagnosed Patients Unknown status NCT00956670
7 Out-of Pocket Payments in Patients With Primary Lymphedema in France and Inequities of Access to Healthcare Completed NCT02988479
8 Out-of Pocket Payments in Patients With Lymphedema in France and Inequities of Access ti Healthcare Completed NCT02988505
9 Breast Cancer Lymphedema: Role of Insulin Resistance/FOXC2 Completed NCT00383604
10 Physical Therapies in the Decongestive Treatment of Lymphedema: A Multicenter, Randomized, Controlled Study. Completed NCT01748604
11 Assessment of Quality of Life Changes on Lower Extremity Lymphedema Patients Using an Advanced Pneumatic Compression Device at Home Recruiting NCT02661646
12 Histologic Analysis of the Lymphatic Collecting Vessels Used for Minimally Invasive Supermicrosurgical Lymphatico-venous Anastomoses in the Treatment of Lymphedema Recruiting NCT03465930
13 Low-Level Laser in Treatment of Head and Neck Lymphedema: A Pilot Study Recruiting NCT03738332
14 Assessment of Tissue and Biomolecular Complements of Lower Limb Chronic Oedema Recruiting NCT02914808
15 Ketogenic Diet: a Novel Metabolic Strategy to Treat Lymphedema Patients? Recruiting NCT03991897
16 A Pilot Study to Evaluate the Feasibility and Potential Effectiveness of the Flexitouch System Head and Neck Treatment Active, not recruiting NCT03332160

Search NIH Clinical Center for Primary Lymphedema

Genetic Tests for Primary Lymphedema

Anatomical Context for Primary Lymphedema

MalaCards organs/tissues related to Primary Lymphedema:

41
Lymph Node, Skin, Endothelial, Breast, Testes, Lung, Myeloid

Publications for Primary Lymphedema

Articles related to Primary Lymphedema:

(show top 50) (show all 343)
# Title Authors PMID Year
1
Novel missense mutations in the FOXC2 gene alter transcriptional activity. 9 38
19760751 2009
2
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene. 9 38
18986489 2008
3
HGF and MET mutations in primary and secondary lymphedema. 9 38
18564920 2008
4
Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. 9 38
17372167 2007
5
Serum level of VEGF-D in patients with primary lymphedema. 9 38
15693535 2004
6
A novel 5q35.3 subtelomeric deletion syndrome. 9 38
12900893 2003
7
Intra-abdominal chylovenous bypass treats retroperitoneal lymphangiomatosis. 38
31273800 2019
8
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses. 38
31298310 2019
9
Pregnancy and feto-neonatal outcome in primary lymphedema affected woman. 38
31287250 2019
10
Surgical treatment of Milroy disease. 38
31165487 2019
11
Indocyanine green lymphography findings in older patients with lower limb lymphedema. 38
31231056 2019
12
LIMPRINT in Specialist Lymphedema Services in United Kingdom, France, Italy, and Turkey. 38
30995195 2019
13
Lymphedema Impact and Prevalence International Study: The Canadian Data. 38
30995190 2019
14
Lymphoscintigraphic Evaluation of Systemic Tracer Uptake in Patients With Primary Lymphedema. 38
30730319 2019
15
Adult-Onset Primary Lymphedema: A Clinical-Lymphoscintigraphic Study of 26 Patients. 38
30916606 2019
16
Prioritization of genes involved in endothelial cell apoptosis by their implication in lymphedema using an analysis of associative gene networks with ANDSystem. 38
30871556 2019
17
Primary Lymphedema of the Upper Extremities: Clinical and Lymphoscintigraphic Features in 23 Patients. 38
30280960 2019
18
Giant and Extensive Localized Xanthoma Associated with Primary Lymphedema. 38
30745639 2019
19
Skin Grafting Applications in Urology. 38
31239824 2019
20
Outcomes of Vascularized Lymph Node Transfer and Lymphovenous Anastomosis for Treatment of Primary Lymphedema. 38
30656125 2018
21
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. 38
30244526 2018
22
Angiosarcoma arising from congenital primary lymphedema. 38
30216524 2018
23
Probing the effect of morphology on lymphatic valve dynamic function. 38
29804152 2018
24
Extraosseous Ewing sarcoma arising in a chronically lymphedematous limb. 38
30148241 2018
25
Unilateral Primary Congenital Lymphedema of the Upper Limb in an 11-Month-Old Infant: A Clinical and Pharmacological Perspective. 38
30337988 2018
26
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon. 38
30071673 2018
27
Site Specific Evaluation of Lymphatic Vessel Sclerosis in Lower Limb Lymphedema Patients. 38
29338554 2018
28
Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome. 38
29447908 2018
29
Primary Congenital Lymphedema. 38
29762243 2018
30
Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema. 38
29542815 2018
31
Incidence of Cellulitis among Children with Primary Lymphedema. 38
29791815 2018
32
Use of lymphoscintigraphy to differentiate primary versus secondary lower extremity lymphedema after surgical lymphadenectomy: a retrospective analysis. 38
29631609 2018
33
Lymphatic Drainage of Legs Reduces Edema of the Arms in Children with Lymphedema. 38
29527377 2018
34
Modified enteromesenteric bridging operation for primary lymphedema. 38
30337509 2018
35
Mobilization of Fluids in the Intensive Treatment of Primary and Secondary Lymphedemas. 38
29861666 2018
36
Lymphedema: Pathophysiology and clinical manifestations. 38
29132848 2017
37
High-resolution MR lymphangiography for planning lymphaticovenous anastomosis treatment: a single-centre experience. 38
28770484 2017
38
[Primary lymphedema]. 38
29211371 2017
39
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. 38
28985353 2017
40
Serial two-year follow-up after lymphaticovenular anastomosis for the treatment of lymphedema. 38
28688173 2017
41
Surgical Treatment of Primary Lymphedema. 38
28880720 2017
42
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome. 38
28271814 2017
43
[Primary lymphedema in childhood]. 38
28651791 2017
44
Diagnostic Accuracy of Lymphoscintigraphy for Lymphedema and Analysis of False-Negative Tests. 38
28831342 2017
45
Near-Infrared Fluorescence Lymphatic Imaging of a Toddler With Congenital Lymphedema. 38
28356336 2017
46
Primary Lymphedema and Viral Warts in GATA2 Haploinsufficiency. 38
28259234 2017
47
[Primary lymphedema due to Milroy disease]. 38
26818397 2017
48
[Lymphedema: From diagnosis to treatment]. 38
27591818 2017
49
Resolution of Primary Lymphedema: A Case Report. 38
28280665 2017
50
A new combined operative technique using crossed inguinal lymphatic rescue for pediatric patients with mixed lymphatic and venous malformations. 38
30234251 2017

Variations for Primary Lymphedema

Expression for Primary Lymphedema

Search GEO for disease gene expression data for Primary Lymphedema.

Pathways for Primary Lymphedema

GO Terms for Primary Lymphedema

Biological processes related to Primary Lymphedema according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.5 VEGFC FLT4 EPHB4
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.49 FLT4 EPHB4
3 positive regulation of endothelial cell proliferation GO:0001938 9.48 VEGFC FLT4
4 positive regulation of endothelial cell migration GO:0010595 9.46 FOXC2 FLT4
5 heart morphogenesis GO:0003007 9.43 FOXC2 EPHB4
6 cell differentiation GO:0030154 9.4 VEGFC FOXC2
7 sprouting angiogenesis GO:0002040 9.37 VEGFC FLT4
8 vascular endothelial growth factor signaling pathway GO:0038084 9.26 VEGFC FLT4
9 lymphangiogenesis GO:0001946 9.16 FOXC2 FLT4
10 lymph vessel development GO:0001945 8.96 FOXC2 FLT4
11 vascular endothelial growth factor receptor signaling pathway GO:0048010 8.8 VEGFC FOXC2 FLT4

Molecular functions related to Primary Lymphedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.62 FLT4 EPHB4

Sources for Primary Lymphedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....