PCL
MCID: HRD202
MIFTS: 50

Hereditary Lymphedema I (PCL)

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

Aliases & Classifications for Hereditary Lymphedema I

MalaCards integrated aliases for Hereditary Lymphedema I:

Name: Hereditary Lymphedema I 12 15
Lymphedema 43 39
Congenital Primary Lymphedema 12
Hereditary Lymphedema Type I 12
Lymphedema Hereditary Type 1 74
Nonne-Milroy Lymphedema 12
Milroy Disease 12
Lmph1 12
Pcl 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070212
MeSH 43 D008209
NCIt 49 C48829
SNOMED-CT 67 399889006
ICD10 32 Q82.0
UMLS 71 C1704423

Summaries for Hereditary Lymphedema I

Disease Ontology : 12 A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.

MalaCards based summary : Hereditary Lymphedema I, also known as lymphedema, is related to hypotrichosis-lymphedema-telangiectasia syndrome and hereditary lymphedema ii. An important gene associated with Hereditary Lymphedema I is FOXC2 (Forkhead Box C2), and among its related pathways/superpathways are Angiogenesis (CST) and VEGF binds to VEGFR leading to receptor dimerization. The drugs Tocopherol and Hesperidin have been mentioned in the context of this disorder. Affiliated tissues include Heart, breast and lymph node, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 74 Milroy's disease (MD) is a familial disease characterized by lymphedema, commonly in the legs, caused by... more...

Related Diseases for Hereditary Lymphedema I

Diseases in the Primary Lymphedema family:

Hereditary Lymphedema Hereditary Lymphedema Ic
Hereditary Lymphedema Id Hereditary Lymphedema Ia
Hereditary Lymphedema Ib Hereditary Lymphedema I
Hereditary Lymphedema Ii Congenital Lymphedema
Celsr1-Related Late-Onset Primary Lymphedema Gjc2-Related Late-Onset Primary Lymphedema

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

(show top 50) (show all 671)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis-lymphedema-telangiectasia syndrome 34.9 SOX18 PROX1 FOXC2
2 hereditary lymphedema ii 34.8 SOX18 PROX1 FOXC2 FLT4
3 lymphatic malformation 1 34.4 VEGFC FLT4
4 lymphatic malformation 5 34.3 SOX18 FOXC2
5 yellow nail syndrome 34.2 SOX18 FOXC2
6 hennekam syndrome 34.1 VEGFC SOX18 PROX1 FOXC2 FLT4
7 lymphangiosarcoma 33.8 VEGFC PROX1 PDPN FLT4
8 congenital lymphedema 33.3 VEGFC PDPN FOXC2 FLT4
9 klippel-trenaunay-weber syndrome 32.9 SOX18 FOXC2 FLT4
10 lymphangitis 31.5 VEGFC PROX1 PDPN FLT4
11 primary lymphedema 31.3 VEGFC FOXC2 FLT4
12 hereditary lymphedema 31.1 VEGFC TSPO SOX18 PRDM10 PHF19 PCNP
13 lymphangioma 31.0 VEGFC PROX1 PDPN KDM4C H2AC18 FLT4
14 hypotrichosis 30.8 SOX18 KDM4C H2AC18 FOXC2 FLT4
15 breast angiosarcoma 30.8 PROX1 FLT4
16 kaposiform hemangioendothelioma 30.7 PROX1 FLT4
17 vascular cancer 30.7 PROX1 PDPN FLT4
18 cystic lymphangioma 30.7 PROX1 PDPN FOXC2
19 lymphedema-distichiasis syndrome 30.7 VEGFC SOX18 FOXC2 FLT4
20 angiosarcoma 30.6 PROX1 PDPN FLT4
21 gorham's disease 30.4 VEGFC PDPN FLT4
22 lung cancer susceptibility 3 30.2 VEGFC PRDM10 MIR150 KDM4C H2AC18 FLT4
23 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 30.2 PRDM10 IKBKG H2AC18
24 renal cell carcinoma, nonpapillary 29.8 VEGFC MIR150 KDM4C H2AC18 FLT4 EDN2
25 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.8
26 hennekam lymphangiectasia-lymphedema syndrome 1 12.7
27 lymphedema, primary, with myelodysplasia 12.6
28 cholestasis-lymphedema syndrome 12.6
29 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.6
30 hennekam lymphangiectasia-lymphedema syndrome 2 12.6
31 choanal atresia and lymphedema 12.6
32 hennekam lymphangiectasia-lymphedema syndrome 3 12.6
33 lymphedema-hypoparathyroidism syndrome 12.5
34 lymphedema and cerebral arteriovenous anomaly 12.4
35 hereditary lymphedema id 12.4
36 congenital primary lymphedema of gordon 12.4
37 hereditary lymphedema ic 12.4
38 congenital primary lymphedema without systemic or visceral involvement 12.3
39 hereditary lymphedema ia 12.3
40 plasma cell leukemia 12.3
41 lymphedema, cardiac septal defects, and characteristic facies 12.3
42 hereditary lymphedema ib 12.3
43 agenesis of the corpus callosum and congenital lymphedema 12.2
44 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome 12.2
45 lymphatic malformation 3 12.2
46 ectodermal dysplasia and immunodeficiency 1 12.2
47 lymphatic malformation 4 12.1
48 late-onset primary lymphedema without systemic or visceral involvement 12.1
49 primary lymphedema without systemic or visceral involvement 12.1
50 celsr1-related late-onset primary lymphedema 12.1

Graphical network of the top 20 diseases related to Hereditary Lymphedema I:



Diseases related to Hereditary Lymphedema I

Symptoms & Phenotypes for Hereditary Lymphedema I

MGI Mouse Phenotypes related to Hereditary Lymphedema I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 FLT4 FOXC2 IKBKG PCNP PDPN PHF19
2 growth/size/body region MP:0005378 9.97 ACD EDN2 FLT4 FOXC2 IKBKG KDM4C
3 adipose tissue MP:0005375 9.91 EDN2 FLT4 FOXC2 IKBKG PRDM10 PROX1
4 digestive/alimentary MP:0005381 9.86 ACD EDN2 FLT4 FOXC2 IKBKG PDPN
5 homeostasis/metabolism MP:0005376 9.77 ACD EDN2 FLT4 FOXC2 IKBKG KDM4C
6 mortality/aging MP:0010768 9.5 ACD EDN2 FLT4 FOXC2 IKBKG KDM4C

Drugs & Therapeutics for Hereditary Lymphedema I

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

(show top 50) (show all 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
2
Hesperidin Approved, Investigational Phase 4 520-26-3 53477767
3
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
4 Tocotrienol Investigational Phase 4 6829-55-6
5 Antioxidants Phase 4
6 Protective Agents Phase 4
7 Radiopharmaceuticals Phase 4
8 Vitamins Phase 4
9 Tocotrienols Phase 4
10 Tocopherols Phase 4
11
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
12
Polymyxin B Approved, Vet_approved Phase 2, Phase 3 1404-26-8
13
Bacitracin Approved, Vet_approved Phase 2, Phase 3 1405-87-4 439542 10909430
14
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
15 Fibrin Tissue Adhesive Phase 3
16 Hemostatics Phase 3
17 Coagulants Phase 3
18 Calcineurin Inhibitors Phase 2, Phase 3
19 Anti-Infective Agents, Local Phase 2, Phase 3
20 Polymyxins Phase 2, Phase 3
21 Omega 3 Fatty Acid Phase 3
22 Anti-Infective Agents Phase 3
23 Antiprotozoal Agents Phase 3
24 Antiparasitic Agents Phase 3
25 Antimalarials Phase 3
26
Selenium Approved, Investigational, Vet_approved Phase 2 7782-49-2
27
Selenious acid Approved, Investigational Phase 2 7783-00-8
28
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
29
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
30
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
31
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
32
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
33
Propranolol Approved, Investigational Phase 2 525-66-6 4946
34
Valganciclovir Approved, Investigational Phase 2 175865-60-8 64147
35
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
36
Methylene blue Approved, Investigational Phase 2 61-73-4
37
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
38
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
39 Kava Approved, Investigational, Nutraceutical Phase 1, Phase 2 9000-38-8
40
Ubenimex Investigational Phase 2 58970-76-6
41
Horse chestnut Experimental Phase 2
42 Adjuvants, Immunologic Phase 2
43 Platelet Aggregation Inhibitors Phase 2
44 Pycnogenols Phase 2
45 Anti-HIV Agents Phase 2
46
protease inhibitors Phase 2
47 HIV Protease Inhibitors Phase 2
48 Mitogens Phase 2
49 Endothelial Growth Factors Phase 2
50 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:

(show top 50) (show all 431)
# Name Status NCT ID Phase Drugs
1 Low Level Laser Treatment and Breast Cancer Related Lymphedema Completed NCT00852930 Phase 4
2 Placebo-controlled, Case-controlled, Open Label Therapeutic Trial for Unilateral or Bilateral Lymphedema of Arm or Leg. Completed NCT02257970 Phase 4 Ketoprofen;Placebo
3 Prospective, Randomized Controlled Trial Comparing the Effect of CircAid(R) Juxta-Fit(tm) Versus Trico Bandages in the Treatment of Leg Lymphedema Completed NCT01068431 Phase 4
4 Prospective, Randomized Controlled Trial Comparing the Effect of a Non-elastic Compression Device Juxta Reduction Kit (Medi ®)" Versus Elastic Class 1 Stockings (BSN Medical® in Patients Undergoing Total Knee Arthroplasty Completed NCT02375945 Phase 4
5 A Comparison of Dermal Autograft to Commercially Available Dermal Allograft in Breast Reconstruction Completed NCT01561287 Phase 4
6 Individualisation du Drainage Lymphatique Des Membres inférieurs Lors du Curage Pelvien Pour Cancer gynécologique Active, not recruiting NCT01946672 Phase 4
7 Lipid Peroxidation and Options Antioxidant Therapy for Secondary Lymphedema of the Lower Extremities Active, not recruiting NCT04360889 Phase 4 Micronised purified flavonoid fraction (diosmin+flavonoids expressed as hesperidin);Tocopherol
8 Standardization of Indocyanine Green Lymphography Protocol With Exercise for Lymphedema Assessment Enrolling by invitation NCT03584633 Phase 4 Indocyanine Green
9 Use of Pulsed Electromagnetic Fields in Reducing Arm and Shoulder Complaints in Breast Cancer Patients After Lymph Node Dissection Terminated NCT01255631 Phase 4
10 A Randomized Trial of the Flexitouch Compression System as an Adjunctive Treatment for Venous Stasis Ulcer Terminated NCT00534937 Phase 4
11 Randomized Trial of Pelvic and Lower Extremity Exercise in Patients Who Underwent Pelvic Lymphadenectomy With Lower Extremity Edema-related Symptoms Unknown status NCT01849224 Phase 3
12 A Randomized Trial to Determine the Impact of Lymphedema Therapy on Quality of Life and Disease Severity in Patients With Post-Thrombotic Syndrome Unknown status NCT00633971 Phase 3
13 Prospective Randomized Study Comparing Mastectomy Outcomes With Versus Without the Application of Autologous Blood Products to the Surgical Site Unknown status NCT00802477 Phase 3
14 A Randomized Study to Prevent Lymphedema in Women Treated for Breast Cancer Completed NCT00376597 Phase 3
15 Lymphedema Treatment of Post-surgical Upper Limb of Breast Cancer Through Muscle Strengthening Associated With Complex Physical Therapy Completed NCT02574780 Phase 2, Phase 3
16 A Phase III Clinical Trial Use of TISSEEL VH Fibrin Sealant to Reduce Lymphedema Incidence After Inguinal Lymph Node Dissection Performed in the Management of Vulvar Malignancies Completed NCT00028951 Phase 3 fibrin sealant
17 DELTA - A Randomized Trial of Decongestive Lymphatic Therapy for Lymphedema in Women With Breast Cancer Completed NCT00201890 Phase 3
18 Individualisation of the Lymphatic Arm Drainage During Axillary Dissection for Breast Carcinomas. Completed NCT01146158 Phase 3
19 Does Scar Tissue Massage Improve Postoperative Pain and Function in Women With Breast Cancer? A Randomized Controlled Study. Completed NCT00175344 Phase 3
20 Efficacy of a Fibrin Sealant (Tissucol Duo®) for the Prevention of Lymphocele After Laparoscopic Pelvic Lymphadenectomy Due to Gynaecological Cancer: a Randomised Controlled Trial Completed NCT03914963 Phase 3
21 A Collagen-Fibrin Patch (Tachosil®) for the Prevention of Symptomatic Lymphoceles After Pelvic Lymphadenectomy in Women With Gynecologic Malignancies: a Randomized Clinical Trial Completed NCT01470677 Phase 3 Tachosil fibrin patch
22 A Randomized Controlled Trial: Does Immediate Lymphatic Reconstruction Decrease the Incidence of Lymphedema After Axillary Lymph Node Dissection Recruiting NCT04241341 Phase 3
23 ARM: Axillary Reverse Mapping - A Prospective Trial to Study Rates of Lymphedema and Regional Recurrence After Sentinel Lymph Node Biopsy and Sentinel Lymph Node Biopsy Followed by Axillary Lymph Node Dissection With and Without Axillary Reverse Mapping Recruiting NCT03927027 Phase 3 Isosulfan Blue
24 Malar Bags After Lower Lid Blepharoplasty and Facelift: A Randomized Controlled Trial of the Effects of Tacrolimus Recruiting NCT03715387 Phase 2, Phase 3 Tacrolimus Topical 0.1% Topical Ointment;Polysporin Ointment
25 RT CHARM: Phase III Randomized Trial of Hypofractionated Post Mastectomy Radiation With Breast Reconstruction Recruiting NCT03414970 Phase 3
26 Evaluating the Use of Enhanced Recovery Preoperative Immunonutrition and Carbohydrate Loading Strategies in Immediate Autologous and Alloplastic Breast Reconstruction Recruiting NCT03764943 Phase 3
27 A Multi-center, Double-blind, Randomized, 24-month Study, to Compare the Efficacy of Doxycycline Once Daily for 6 Weeks Versus Placebo in Improving Filarial Lymphedema Independent of Active Filarial Infection Active, not recruiting NCT02929134 Phase 3 Doxycycline;Placebo
28 A Multi-center, Double-blind, Randomized, 24-month Study, to Compare the Efficacy of Doxycycline Once Daily for 6 Weeks Versus Placebo in Improving Filarial Lymphedema Independent of Active Filarial Infection Active, not recruiting NCT02929121 Phase 3 Doxycycline;Placebo
29 A Multi-center, Double-blind, Randomized, 24-month Study, to Compare the Efficacy of Doxycycline Once Daily for 6 Weeks Versus Placebo in Improving Filarial Lymphedema Independent of Active Filarial Infection Active, not recruiting NCT02927496 Phase 3 Doxycycline;Placebo
30 Inguinal or Ilio-inguinal Lymphadenectomy for Patients With Metastatic Melanoma to Groin Lymph Nodes and no Evidence of Pelvic Disease on PET/CT Scan - A Randomised Phase III Trial (EAGLE FM) Active, not recruiting NCT02166788 Phase 3
31 Randomized Trial of Hypofractionated LocoRegional Radiotherapy in Breast Cancer and Lymphedema (RHEAL) Not yet recruiting NCT04228991 Phase 3
32 A Phase III Randomised Clinical Trial Comparing Sentinel Node Biopsy With No Retroperitoneal Node Dissection in Apparent Early-Stage Endometrial Cancer Not yet recruiting NCT04073706 Phase 3
33 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
34 Fat Grafting Used for the Treatment of Breast Cancer Related Lymphedema in China Unknown status NCT02981485 Phase 2
35 A Limited Access Phase II Trial Utilizing Bioimpedance to Measure Lower Extremity Lymphedema Associated With the Surgical Management of a Vulvar Cancer Unknown status NCT01406769 Phase 2
36 Randomized Phase II Trial Of Hyperbaric Oxygen Therapy In Patients With Chronic Arm Lymphoedema After Radiotherapy For Cancer Unknown status NCT00077090 Phase 2 hyperbaric oxygen
37 Therapeutical Assessment of Compression Armsleeves for Lymphatic Indications (Therapeutische Bewertung Von Armkompressionsstrümpfen für Lymphatische Indikationen BF09-PH-01) Unknown status NCT01318785 Phase 2
38 Hyperbaric Oxygen Therapy to Reduce Lymphedema After Breast Cancer -an Explorative Clinical Trial Unknown status NCT02895724 Phase 2 Medical Oxygen
39 Treatment of Lymphedema- Application of the Kinesio Taping Unknown status NCT00155220 Phase 2
40 Axillary Reverse Mapping in Breast Cancer Unknown status NCT01038908 Phase 2
41 Efficacy Study of a Peristaltic Pulse Pneumatic Device in the Treatment of Claudication Unknown status NCT01007604 Phase 2
42 Lymphadenectomy After Neo-Adjuvant Chemotherapy in Ovarian Neoplasm Unknown status NCT01724944 Phase 1, Phase 2
43 Feasibility & Effect of a Tele-rehabilitation Program in Idiopathic Pulmonary Fibrosis (IPF) Unknown status NCT03548181 Phase 2
44 Treatment of Arm Lymphedema in Breast Cancer Survivors: A Double-Blind, Randomized Study of Pycnogenol vs. Placebo Completed NCT00214032 Phase 2 Pycnogenol;Placebo
45 Ubenimex in Adult Patients With Lymphedema of The Lower Limb: a Phase 2, RAndomized, Double-blind, Placebo-controlled Study of Efficacy, Safety, and Pharmacokinetics (ULTRA) Completed NCT02700529 Phase 2 ubenimex
46 A Single-blind, Randomized Trial of Horse Chestnut Seed Extract for the Treatment of Lymphedema of the Arm in Breast Cancer Survivors Completed NCT00213928 Phase 2 Horse Chestnut Seed Extract
47 Pycnogenol for the Treatment of Lymphedema of the Arm in Breast Cancer Survivors Completed NCT00064857 Phase 2 Pycnogenol
48 Acupuncture for the Treatment of Chronic Lymphedema: A Feasibility Study Completed NCT01003951 Phase 2
49 A Phase II Study of VEGF Inhibition in Patients With Unilateral Upper Extremity Lymphedema Following Treatment for Cancer Completed NCT00827372 Phase 2 Pazopanib
50 The Effect of Combined Decongestive Therapy and Pneumatic Compression Pump on Body Image in Patients With Lymphedema Secondary to Breast Cancer Treatment Completed NCT02650297 Phase 1, Phase 2

Search NIH Clinical Center for Hereditary Lymphedema I

Cochrane evidence based reviews: lymphedema

Genetic Tests for Hereditary Lymphedema I

Anatomical Context for Hereditary Lymphedema I

MalaCards organs/tissues related to Hereditary Lymphedema I:

40
Breast, Lymph Node, Skin, Endothelial, Testes, Prostate, Lung
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hereditary Lymphedema I:
# Tissue Anatomical CompartmentCell Relevance
1 Heart Cardinal Veins Venous Endothelial Cells Affected by disease, potential therapeutic candidate

Publications for Hereditary Lymphedema I

Articles related to Hereditary Lymphedema I:

(show top 50) (show all 7580)
# Title Authors PMID Year
1
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. 61 54
20450314 2010
2
c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. 54 61
20186799 2010
3
Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2. 54 61
20218083 2009
4
Tumor cell expression of podoplanin correlates with nodal metastasis in esophageal squamous cell carcinoma. 61 54
19554509 2009
5
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. 61 54
19394045 2009
6
Elephantiasis, elastin, and chronic wound healing: 19th century and contemporary viewpoints relevant to hypotheses concerning lymphedema, leprosy, erysipelas, and psoriasis--review and reflections. 54 61
19499764 2009
7
Therapeutic responses to exogenous VEGF-C administration in experimental lymphedema: immunohistochemical and molecular characterization. 54 61
19302023 2009
8
T1alpha/podoplanin is essential for capillary morphogenesis in lymphatic endothelial cells. 54 61
18658274 2008
9
Detection and characterization of vascular endothelial growth factors and their receptors in a series of angiosarcomas. 54 61
18041747 2008
10
[Experimental study of gene therapy with human vascular endothelial growth factor-c in lymphedema]. 54 61
18269031 2007
11
Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. 61 54
17372167 2007
12
An experimental model for the study of lymphedema and its response to therapeutic lymphangiogenesis. 61 54
17176124 2006
13
Update on the molecular genetics of vascular anomalies. 54 61
16379592 2005
14
The VCAM-1 gene that encodes the vascular cell adhesion molecule is a target of the Sry-related high mobility group box gene, Sox18. 54 61
14634005 2004
15
A novel 5q35.3 subtelomeric deletion syndrome. 61 54
12900893 2003
16
Lymphangiogenic growth factors, receptors and therapies. 54 61
12888864 2003
17
Age of onset in hereditary lymphedema. 54 61
12838201 2003
18
VEGF-C gene therapy augments postnatal lymphangiogenesis and ameliorates secondary lymphedema. 61 54
12618526 2003
19
FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. 61 54
12485195 2002
20
Preclinical models of lymphatic disease: the potential for growth factor and gene therapy. 54 61
12543717 2002
21
Insights into the molecular pathogenesis and targeted treatment of lymphedema. 61 54
12543720 2002
22
Molecular control of lymphangiogenesis. 61 54
12386934 2002
23
Lymphedema-distichiasis syndrome and FOXC2 gene mutation. 61 54
12383817 2002
24
Lymphangiogenic gene therapy with minimal blood vascular side effects. 61 54
12235206 2002
25
The transcription factor Prox1 is a marker for lymphatic endothelial cells in normal and diseased human tissues. 61 54
12060670 2002
26
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. 54 61
11889214 2002
27
A model for gene therapy of human hereditary lymphedema. 61 54
11592985 2001
28
Truncating mutations in FOXC2 cause multiple lymphedema syndromes. 54 61
11371511 2001
29
Effects of weight reduction on the breast cancer-related lymphedema: A systematic review and meta-analysis. 61
32505860 2020
30
Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex. 61
32479982 2020
31
Gastroepiploic Lymph Node Flap Harvest for Patients With Lymphedema: Minimally Invasive Versus Open Approach. 61
32530851 2020
32
Ultrasound Vibroelastography for Evaluation of Secondary Extremity Lymphedema: A Clinical Pilot Study. 61
32530852 2020
33
Risk factors for late-onset lower limb lymphedema after gynecological cancer treatment: A multi-institutional retrospective study. 61
32146054 2020
34
Synthesis and evaluation of butein derivatives for in vitro and in vivo inflammatory response suppression in lymphedema. 61
32361286 2020
35
Characteristics and outcomes of lymphaticovenular anastomosis in older patients with bilateral involvement versus younger patients with unilateral involvement in lower extremity lymphedema. 61
31843479 2020
36
Multidisciplinary approach to management of severe lymphedema with one-stage radical excision and split-thickness skin grafting: Report of two cases. 61
32139327 2020
37
A systematic review of the quality of clinical practice guidelines for lymphedema, as assessed using the Appraisal of Guidelines for Research and Evaluation II instrument. 61
32335331 2020
38
Effects of Health Belief Model based nursing interventions offered at home visits on lymphedema prevention in women with breast cancer: A randomised controlled trial. 61
32243029 2020
39
Quality of life and associated factors after surgical treatment of vulvar cancer by vulvar field resection (VFR). 61
32430759 2020
40
Effect of lymphedema self-management group-based education compared with social network-based education on quality of life and fear of cancer recurrence in women with breast cancer: a randomized controlled clinical trial. 61
32152817 2020
41
The Effect of Topical Tacrolimus on Pedicled Flap Survival. 61
32412713 2020
42
Distress, problems, referral wish, and supportive health care use in breast cancer survivors beyond the first year after chemotherapy completion. 61
31511981 2020
43
A systematic review of guidelines for lymphedema and the need for contemporary intersocietal guidelines for the management of lymphedema. 61
32444277 2020
44
Morbihan disease: Look beyond facial lymphedema. 61
32496225 2020
45
Creation of a Rat Lower Limb Lymphedema Model. 61
32205493 2020
46
Assessment of Upper Limb Physiological Features in Patients with Lymphedema After Breast Surgery Using Multiple Instruments. 61
31657652 2020
47
Electrical Stimulation in the Treatment of Lymphedema and Associated Skin Ulcers. 61
31730410 2020
48
A quasi-randomized clinical trial: virtual reality versus proprioceptive neuromuscular facilitation for postmastectomy lymphedema. 61
32537717 2020
49
Cervicofacial and Pharyngolaryngeal Lymphedema and Deglutition After Head and Neck Cancer Treatment. 61
31502064 2020
50
Correction to: Cervicofacial and Pharyngolaryngeal Lymphedema and Deglutition After Head and Neck Cancer Treatment. 61
31602516 2020

Variations for Hereditary Lymphedema I

Expression for Hereditary Lymphedema I

Search GEO for disease gene expression data for Hereditary Lymphedema I.

Pathways for Hereditary Lymphedema I

Pathways related to Hereditary Lymphedema I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.87 VEGFC PROX1 PDPN FLT4
2
Show member pathways
10.16 VEGFC FLT4

GO Terms for Hereditary Lymphedema I

Cellular components related to Hereditary Lymphedema I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.1 SOX18 PROX1 PRDM10 KDM4C H2AC18 FOXC2
2 ESC/E(Z) complex GO:0035098 8.96 PHF19 MTF2

Biological processes related to Hereditary Lymphedema I according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.88 VEGFC PROX1 KDM4C FLT4 EDN2
2 positive regulation of endothelial cell proliferation GO:0001938 9.63 VEGFC PROX1 FLT4
3 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.61 VEGFC FOXC2 FLT4
4 positive regulation of endothelial cell migration GO:0010595 9.58 PROX1 FOXC2 FLT4
5 stem cell population maintenance GO:0019827 9.54 PHF19 MTF2 KDM4C
6 embryonic heart tube development GO:0035050 9.51 SOX18 FOXC2
7 vascular endothelial growth factor signaling pathway GO:0038084 9.49 VEGFC FLT4
8 lymphatic endothelial cell differentiation GO:0060836 9.32 SOX18 PROX1
9 positive regulation of histone H3-K27 methylation GO:0061087 9.26 PHF19 MTF2
10 lymph vessel development GO:0001945 9.26 SOX18 PROX1 FOXC2 FLT4
11 endocardium formation GO:0060214 9.16 SOX18 PROX1
12 lymphangiogenesis GO:0001946 9.02 SOX18 PROX1 PDPN FOXC2 FLT4

Sources for Hereditary Lymphedema I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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