PCL
MCID: HRD202
MIFTS: 55

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
Hereditary Lymphedema Type I 12 29 6
Lymphedema 44 39 70
Congenital Primary Lymphedema 12
Lymphedema Hereditary Type 1 73
Nonne-Milroy Lymphedema 12
Milroy Disease 12
Lmph1 12
Pcl 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070212
MeSH 44 D008209
NCIt 50 C48829
SNOMED-CT 67 268355000
ICD10 32 Q82.0
UMLS 70 C0024236 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 hereditary lymphedema type i, is related to lymphatic malformation 1 and hereditary lymphedema ii, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Hereditary Lymphedema I is FLT4 (Fms Related Receptor Tyrosine Kinase 4), and among its related pathways/superpathways are Angiogenesis (CST) and VEGF ligand-receptor interactions. 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 adipose tissue

Wikipedia : 73 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 716)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 1 33.2 VEGFC FLT4
2 hereditary lymphedema ii 33.2 SOX18 FOXC2 FLT4
3 hypotrichosis-lymphedema-telangiectasia syndrome 33.0 SOX18 PROX1 FOXC2 FLT4
4 yellow nail syndrome 32.9 SOX18 FOXC2 CCR6
5 hennekam syndrome 32.9 VEGFC SOX18 PROX1 FOXC2 FLT4
6 lymphangiosarcoma 32.6 PROX1 PDPN FLT4
7 congenital lymphedema 32.3 VEGFC PDPN KIF11 FOXC2 FLT4
8 klippel-trenaunay-weber syndrome 31.9 SOX18 FOXC2 FLT4
9 lymphatic system disease 31.7 MIR150 KDM4C H2AC18 CCR6
10 lymphangitis 31.2 VEGFC PROX1 PDPN FLT4
11 primary lymphedema 31.0 VEGFC FOXC2 FLT4
12 lymphatic malformation 5 30.9 SOX18 FOXC2 FLT4
13 hereditary lymphedema 30.8 VIP VEGFC SOX18 PHF19 PCNP MTF2
14 lymphangioma 30.6 VEGFC PROX1 PDPN KDM4C H2AC18 FLT4
15 breast angiosarcoma 30.5 PROX1 FLT4
16 angiosarcoma 30.5 PROX1 PDPN FLT4
17 kaposiform hemangioendothelioma 30.5 PROX1 FLT4
18 cystic lymphangioma 30.4 PROX1 PDPN FOXC2
19 lymphedema-distichiasis syndrome 30.3 VEGFC SOX18 PROX1 FOXC2 FLT4
20 gorham's disease 30.1 VEGFC PDPN FLT4
21 intestinal disease 30.0 MIR150 KDM4C H2AC18 CCR6
22 squamous cell carcinoma, head and neck 29.8 VEGFC MIR150 H2AC18 FLT4 CCR6
23 renal cell carcinoma, nonpapillary 29.5 VEGFC MIR150 KDM4C H2AC18 FLT4 EDN2
24 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.7
25 hennekam lymphangiectasia-lymphedema syndrome 1 11.6
26 lymphedema, primary, with myelodysplasia 11.5
27 plasma cell leukemia 11.5
28 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 11.5
29 cholestasis-lymphedema syndrome 11.5
30 lymphatic malformation 6 11.5
31 hennekam lymphangiectasia-lymphedema syndrome 2 11.5
32 choanal atresia and lymphedema 11.4
33 lymphatic malformation 3 11.4
34 hennekam lymphangiectasia-lymphedema syndrome 3 11.4
35 ectodermal dysplasia and immunodeficiency 1 11.4
36 lymphatic malformation 4 11.4
37 lymphedema-hypoparathyroidism syndrome 11.4
38 hereditary lymphedema ic 11.3
39 hereditary lymphedema id 11.3
40 congenital primary lymphedema of gordon 11.3
41 lymphedema and cerebral arteriovenous anomaly 11.3
42 lymphatic malformation 2 11.2
43 hereditary lymphedema ia 11.2
44 takenouchi-kosaki syndrome 11.2
45 congenital primary lymphedema without systemic or visceral involvement 11.2
46 lymphedema, cardiac septal defects, and characteristic facies 11.2
47 filarial elephantiasis 11.1
48 hereditary lymphedema ib 11.1
49 agenesis of the corpus callosum and congenital lymphedema 11.0
50 irons bhan syndrome 11.0

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



Diseases related to Hereditary Lymphedema I

Symptoms & Phenotypes for Hereditary Lymphedema I

UMLS symptoms related to Hereditary Lymphedema I:


angina pectoris; chest pain; edema; peau d'orange

MGI Mouse Phenotypes related to Hereditary Lymphedema I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 FLT4 FOXC2 IKBKG PCNP PDPN PHF19
2 adipose tissue MP:0005375 9.97 EDN2 FLT4 FOXC2 IKBKG LRRC8A LRRC8C
3 homeostasis/metabolism MP:0005376 9.97 CCR6 EDN2 FLT4 FOXC2 IKBKG KDM4C
4 digestive/alimentary MP:0005381 9.8 EDN2 FLT4 FOXC2 IKBKG PDPN PROX1
5 immune system MP:0005387 9.73 CCR6 FLT4 FOXC2 IKBKG KDM4C LRRC8A
6 mortality/aging MP:0010768 9.47 EDN2 FLT4 FOXC2 IKBKG KDM4C KIF11

Drugs & Therapeutics for Hereditary Lymphedema I

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

(show top 50) (show all 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 4 1406-66-2
2
Hesperidin Approved, Investigational Phase 4 520-26-3 53477767
3
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
4
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
5 Tocotrienol Investigational Phase 4 6829-55-6
6 Nutrients Phase 4
7 Trace Elements Phase 4
8 Micronutrients Phase 4
9 Protective Agents Phase 4
10 Vitamins Phase 4
11 Tocotrienols Phase 4
12 Antioxidants Phase 4
13 Tocopherols Phase 4
14 Anesthetics Phase 4
15 Anesthetics, Local Phase 4
16
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
17 Fibrin Tissue Adhesive Phase 3
18 Coagulants Phase 3
19 Omega 3 Fatty Acid Phase 3
20 Antiparasitic Agents Phase 3
21 Antiprotozoal Agents Phase 3
22 Anti-Infective Agents Phase 3
23 Anti-Bacterial Agents Phase 3
24 Antimalarials Phase 3
25
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
26
Selenious acid Approved, Investigational Phase 2 7783-00-8
27
Selenium Approved, Investigational, Vet_approved Phase 2 7782-49-2
28
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643 439492
29
Pirfenidone Approved, Investigational Phase 1, Phase 2 53179-13-8 40632
30
Methylene blue Approved, Investigational Phase 2 61-73-4
31
Propranolol Approved, Investigational Phase 2 525-66-6 4946
32
Horse chestnut Experimental Phase 2
33
Ubenimex Investigational Phase 2 58970-76-6
34 Radiation-Protective Agents Phase 2
35 Phosphodiesterase Inhibitors Phase 2
36 Platelet Aggregation Inhibitors Phase 2
37 Adjuvants, Immunologic Phase 2
38 Pycnogenols Phase 2
39 Antibiotics, Antitubercular Phase 2
40 Anti-Retroviral Agents Phase 2
41
protease inhibitors Phase 2
42 Anti-HIV Agents Phase 2
43 HIV Protease Inhibitors Phase 2
44 Antiviral Agents Phase 2
45 Mitogens Phase 2
46 Endothelial Growth Factors Phase 2
47 Sodium Selenite Phase 2
48 Immunologic Factors Phase 1, Phase 2
49 Immunosuppressive Agents Phase 1, Phase 2
50 Calcineurin Inhibitors Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 347)
# Name Status NCT ID Phase Drugs
1 Individualisation du Drainage Lymphatique Des Membres inférieurs Lors du Curage Pelvien Pour Cancer gynécologique Unknown status NCT01946672 Phase 4
2 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
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 Low Level Laser Treatment and Breast Cancer Related Lymphedema Completed NCT00852930 Phase 4
5 Placebo-controlled, Case-controlled, Open Label Therapeutic Trial for Unilateral or Bilateral Lymphedema of Arm or Leg. Completed NCT02257970 Phase 4 Ketoprofen;Placebo
6 A Comparison of Dermal Autograft to Commercially Available Dermal Allograft in Breast Reconstruction Completed NCT01561287 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 Prospective Comparison of Single-Injection Serratus Anterior Plane Block With Ropivacaine Versus Local Infiltration of Anaesthetic After Breast Surgery Not yet recruiting NCT04756791 Phase 4
10 A Randomized Study to Prevent Lymphedema in Women Treated for Breast Cancer Completed NCT00376597 Phase 3
11 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
12 Lymphedema Treatment of Post-surgical Upper Limb of Breast Cancer Through Muscle Strengthening Associated With Complex Physical Therapy Completed NCT02574780 Phase 2, Phase 3
13 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 Completed NCT02927496 Phase 3 Doxycycline;Placebo
14 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 Completed NCT02929134 Phase 3 Doxycycline;Placebo
15 DELTA - A Randomized Trial of Decongestive Lymphatic Therapy for Lymphedema in Women With Breast Cancer Completed NCT00201890 Phase 3
16 A Randomized Controlled Trial: Does Immediate Lymphatic Reconstruction Decrease the Incidence of Lymphedema After Axillary Lymph Node Dissection Recruiting NCT04241341 Phase 3
17 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
18 Randomized Trial of Hypofractionated LocoRegional Radiotherapy in Breast Cancer and Lymphedema (RHEAL) Recruiting NCT04228991 Phase 3
19 Evaluating the Use of Enhanced Recovery Preoperative Immunonutrition and Carbohydrate Loading Strategies in Immediate Autologous and Alloplastic Breast Reconstruction Recruiting NCT03764943 Phase 3
20 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
21 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
22 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
23 Fat Grafting Used for the Treatment of Breast Cancer Related Lymphedema in China Unknown status NCT02981485 Phase 2
24 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
25 Treatment of Lymphedema- Application of the Kinesio Taping Unknown status NCT00155220 Phase 2
26 Hyperbaric Oxygen Therapy to Reduce Lymphedema After Breast Cancer -an Explorative Clinical Trial Unknown status NCT02895724 Phase 2 Medical Oxygen
27 Therapeutical Assessment of Compression Armsleeves for Lymphatic Indications (Therapeutische Bewertung Von Armkompressionsstrümpfen für Lymphatische Indikationen BF09-PH-01) Unknown status NCT01318785 Phase 2
28 Double-Blind, Placebo-Controlled, Randomised Trial Of Alpha-Tocopherol And Oxpentifylline In Patients With Radiation Fibrosis Completed NCT00022204 Phase 2 pentoxifylline
29 Pycnogenol for the Treatment of Lymphedema of the Arm in Breast Cancer Survivors Completed NCT00064857 Phase 2 Pycnogenol
30 A Phase II Trial of Image Guided Preoperative Radiotherapy for Primary Soft Tissue Sarcomas of the Extremity Completed NCT00589121 Phase 2 Chemotherapy
31 ARM: Axillary Reverse Mapping Completed NCT01381315 Phase 2
32 Acupuncture for Chronic Lymphedema: A Randomized Wait-list Controlled Trial Completed NCT01706081 Phase 2
33 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
34 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
35 Massage Therapy for Breast Cancer-Related Lymphedema Completed NCT00058851 Phase 2
36 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
37 Postoperative Lymphedema Treatment in Upper Extremities Following Axillary Lymphadenectomy by Transplanting Autologous Endothelial Progenitor Cells (EPC) Completed NCT01112189 Phase 1, Phase 2
38 Treatment of Arm Lymphedema in Breast Cancer Survivors: A Double-Blind, Randomized Study of Pycnogenol vs. Placebo Completed NCT00214032 Phase 2 Pycnogenol;Placebo
39 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
40 A Phase II Study of VEGF Inhibition in Patients With Unilateral Upper Extremity Lymphedema Following Treatment for Cancer Completed NCT00827372 Phase 2 Pazopanib
41 A Randomized Phase II Placebo-controlled Double Blind Study of Using Selenium in the Treatment of Secondary Lymphedema in Breast Cancer Patients Completed NCT00188604 Phase 2 sodium selenite
42 Acupuncture for the Treatment of Chronic Lymphedema: A Feasibility Study Completed NCT01003951 Phase 2
43 Tacrolimus as Treatment of Breast Cancer-Related Lymphedema Recruiting NCT04541290 Phase 1, Phase 2 Protopic 0.1 % Topical Ointment
44 A Phase 1 Multiple Ascending Dose and Food Effect Study in Healthy Volunteers to Determine the Pharmacokinetics and Maximally Tolerated Dose of Deupirfenidone (LYT-100) Followed by a Randomized Double-Blind Placebo-Controlled Phase 2a in Patients With Breast Cancer-Related Upper Limb Secondary Lymphoedema Recruiting NCT04243837 Phase 1, Phase 2 LYT-100;LYT-100 Food Effect;LYT-100 BCRL;Placebo BCRL
45 Prevention of Breast Cancer-related Lymphedma With Tacrolimus Recruiting NCT04390685 Phase 1, Phase 2 Tacrolimus ointment
46 Treatment of Breast Cancer-related Lymphedema With Stem Cells and Fat Grafting Active, not recruiting NCT03776721 Phase 2
47 Treatment of Breast Cancer Related Lymphedema With Cell-assisted Lipotransfer Active, not recruiting NCT02592213 Phase 1, Phase 2
48 Phase 2, Double-Blind, Placebo-Controlled, Randomized Efficacy, Safety and Tolerability Study of Lymfactin in Combination With Surgical Lymph Node Transfer To Patients With Secondary Lymphedema Associated With the Treatment of Breast Cancer Active, not recruiting NCT03658967 Phase 2 Lymfactin® (1x10E11 vp);Placebo
49 PHASE I - II STUDY OF PRONE ACCELERATED BREAST AND NODAL IMRT(Intensity-Modulated Radiation Therapy) Active, not recruiting NCT02308488 Phase 1, Phase 2 Radiation
50 Reducing Extremity Lymphedema Through Axillary Lymphatic Preservation Surgery Terminated NCT00932035 Phase 1, Phase 2 isosulfan blue based lymphatic mapping

Search NIH Clinical Center for Hereditary Lymphedema I

Cochrane evidence based reviews: lymphedema

Genetic Tests for Hereditary Lymphedema I

Genetic tests related to Hereditary Lymphedema I:

# Genetic test Affiliating Genes
1 Hereditary Lymphedema Type I 29 FLT4

Anatomical Context for Hereditary Lymphedema I

MalaCards organs/tissues related to Hereditary Lymphedema I:

40
Breast, Lymph Node, Skin, Endothelial, Prostate, Cervix, T Cells
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 8104)
# 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. 61 54
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. 54 61
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. 61 54
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. 61 54
18658274 2008
9
Detection and characterization of vascular endothelial growth factors and their receptors in a series of angiosarcomas. 61 54
18041747 2008
10
[Experimental study of gene therapy with human vascular endothelial growth factor-c in lymphedema]. 61 54
18269031 2007
11
Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. 54 61
17372167 2007
12
An experimental model for the study of lymphedema and its response to therapeutic lymphangiogenesis. 54 61
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. 61 54
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. 54 61
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. 54 61
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. 54 61
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. 54 61
11592985 2001
28
Truncating mutations in FOXC2 cause multiple lymphedema syndromes. 61 54
11371511 2001
29
Skin-specific knockdown of hyaluronan in mice by an optimized topical 4-methylumbelliferone formulation. 61
33605181 2021
30
Prevalence, risk factors, and trajectories of sleep disturbance in a cohort of African-American breast cancer survivors. 61
32995999 2021
31
lncRNA‑MIAT facilitates the differentiation of adipose‑derived mesenchymal stem cells into lymphatic endothelial cells via the miR‑495/Prox1 axis. 61
33760182 2021
32
Dermatologic sequelae of breast cancer: From disease, surgery, and radiation. 61
33226140 2021
33
Apolipoprotein E4 and meningeal lymphatics in Alzheimer disease: a conceptual framework. 61
32355332 2021
34
Prevalence and predictors of breast cancer-related arm lymphedema over a 10-year period in postoperative breast cancer patients: A cross-sectional study. 61
33626424 2021
35
Factors associated with upper limb dysfunction in breast cancer survivors. 61
32808138 2021
36
MYC gene amplification by fluorescence in situ hybridization and MYC protein expression by immunohistochemistry in the diagnosis of cutaneous angiosarcoma: Systematic review and appropriate use criteria. 61
33128474 2021
37
Endovascular and medical therapy of May-Thurner syndrome: Case series and scoping literature review. 61
33752850 2021
38
Lower Extremity Reconstruction in the Pediatric Population. 61
33674055 2021
39
Less radical surgery for early-stage cervical cancer: a systematic review. 61
33306971 2021
40
Prospective evaluation of sentinel node navigation surgery in Japanese patients with low-risk endometrial cancer-safety and occurrence of lymphedema. 61
33388755 2021
41
Supermicrosurgery in Lower Extremity Reconstruction. 61
33674051 2021
42
Manual lymphatic drainage treatment for lymphedema: a systematic review of the literature. 61
32803533 2021
43
Discussion: "Development and Psychometric Validation of a Patient-Reported Outcome Measure for Arm Lymphedema: LYMPH-Q Upper Extremity Module". 61
33811303 2021
44
Prevention and Treatment of Posttraumatic Lymphedema by Soft Tissue Reconstruction With Lymphatic Vessels Free Flap: An Observational Study. 61
32842032 2021
45
Surgical Treatment of Lymphedema: A Systematic Review and Meta-Analysis of Controlled Trials. Results of a Consensus Conference. 61
33761519 2021
46
Impact on lower limb lymphedema of pelvic lymphadenectomy with external iliac lymph nodes left-opened distal lymphatics technique. 61
33300763 2021
47
Is There a Relationship Between Insulin Resistance and Breast Cancer-Related Lymphedema? A Preliminary Study. 61
33761281 2021
48
Long-term follow-up results of fluorescence and blue dye guided sentinel lymph node biopsy in early breast cancer. 61
33761081 2021
49
ASO Author Reflections: Immediate Lymphatic Reconstruction: A Proactive Approach to Breast Cancer-Related Lymphedema. 61
32886287 2021
50
Development and validation of a nomogram to predict the risk of breast cancer-related lymphedema among Chinese breast cancer survivors. 61
33704565 2021

Variations for Hereditary Lymphedema I

ClinVar genetic disease variations for Hereditary Lymphedema I:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF11 NM_004523.4(KIF11):c.862_871del (p.Ile288fs) Deletion Likely pathogenic 374219 rs1057518980 GRCh37: 10:94373203-94373212
GRCh38: 10:92613446-92613455
2 MET NM_000245.4(MET):c.71G>A (p.Gly24Glu) SNV Likely benign 134649 rs180985111 GRCh37: 7:116339209-116339209
GRCh38: 7:116699155-116699155

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 ESC/E(Z) complex GO:0035098 8.96 PHF19 MTF2
2 ion channel complex GO:0034702 8.62 LRRC8C LRRC8A

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.8 VIP VEGFC PROX1 KDM4C FLT4 EDN2
2 positive regulation of endothelial cell migration GO:0010595 9.69 PROX1 FOXC2 FLT4
3 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.65 VEGFC FOXC2 FLT4
4 vascular endothelial growth factor signaling pathway GO:0038084 9.55 VEGFC FLT4
5 embryonic heart tube development GO:0035050 9.54 SOX18 FOXC2
6 aspartate transmembrane transport GO:0015810 9.52 LRRC8C LRRC8A
7 protein hexamerization GO:0034214 9.49 LRRC8C LRRC8A
8 lymphatic endothelial cell differentiation GO:0060836 9.46 SOX18 PROX1
9 positive regulation of endothelial cell proliferation GO:0001938 9.46 VIP VEGFC PROX1 FLT4
10 taurine transport GO:0015734 9.43 LRRC8C LRRC8A
11 positive regulation of histone H3-K27 methylation GO:0061087 9.4 PHF19 MTF2
12 endocardium formation GO:0060214 9.37 SOX18 PROX1
13 lymphatic endothelial cell fate commitment GO:0060838 9.26 PROX1 PDPN
14 lymph vessel development GO:0001945 9.26 SOX18 PROX1 FOXC2 FLT4
15 lymphangiogenesis GO:0001946 9.02 SOX18 PROX1 PDPN FOXC2 FLT4

Molecular functions related to Hereditary Lymphedema I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 volume-sensitive anion channel activity GO:0005225 8.62 LRRC8C LRRC8A

Sources for Hereditary Lymphedema I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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