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PCL
MCID: HRD202
MIFTS: 60

Hereditary Lymphedema I (PCL)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Hereditary Lymphedema I

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MalaCards integrated aliases for Hereditary Lymphedema I:

Name: Hereditary Lymphedema I 11 14
Lymphedema 43 38 71 75
Hereditary Lymphedema Type I 11 28 5
Congenital Primary Lymphedema 11
Lymphedema Hereditary Type 1 75
Nonne-Milroy Lymphedema 11
Milroy Disease 11
Lmph1 11
Pcl 11

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Immune diseases Neuronal diseases Cardiovascular diseases Skin diseases Oral diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 31


External Ids:

Disease Ontology 11 DOID:0070212
MeSH 43 D008209
NCIt 49 C48829
SNOMED-CT 68 268355000
ICD10 31 Q82.0
UMLS 71 C0024236 C1704423
Sources

Summaries for Hereditary Lymphedema I

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Disease Ontology: 11 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 lymphatic malformation 1 and cholestasis-lymphedema syndrome, 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 Phospholipase-C Pathway and p70S6K Signaling. The drugs Bupivacaine and Hesperidin have been mentioned in the context of this disorder. Affiliated tissues include Heart, lymph node and breast, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia 75 Lymphedema: Lymphedema, also known as lymphoedema and lymphatic edema, is a condition of localized swelling caused... more...

Lymphedema hereditary type 1: Milroy's disease (MD) is a familial disease characterized by lymphedema, commonly in the legs, caused by... more...
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Related Diseases for Hereditary Lymphedema I

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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 880)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 1 32.9 GJC2 FLT4 EPHB4
2 cholestasis-lymphedema syndrome 32.6 SOX18 CCBE1
3 hereditary lymphedema ii 32.6 SOX18 GJC2 FOXC2 CCBE1
4 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 32.6 SOX18 CCBE1
5 yellow nail syndrome 32.4 SOX18 ITGA9 FOXC2
6 hypotrichosis-lymphedema-telangiectasia syndrome 31.7 SOX18 PROX1 NR2F2 ITGA9 GJC2 FOXC2
7 congenital lymphedema 31.7 VEGFD VEGFC PDPN FOXC2 FLT4
8 lymphangiosarcoma 31.6 PROX1 PDPN LYVE1 FLT4
9 klippel-trenaunay-weber syndrome 31.1 SOX18 PROX1 FOXC2 FLT4 EPHB4 CCBE1
10 hypotrichosis 30.6 SOX18 FOXC2 FLT4
11 lymphangitis 30.5 VEGFD VEGFC PDPN LYVE1 FLT4
12 hereditary lymphedema ia 30.5 PIEZO1 ITGA9 GJC2 GATA2 FLT4 EPHB4
13 kaposi sarcoma 30.4 VEGFC PDPN LYVE1 FLT4 EPHB4
14 elephantiasis 30.4 VEGFC FLT4
15 lymphatic malformation 5 30.2 SOX18 FOXC2 FLT4 EPHB4 CCBE1
16 lymphangioma 30.2 VEGFC PROX1 PDPN NRP2 LYVE1 FLT4
17 hennekam syndrome 30.2 VEGFC SOX18 PROX1 PIEZO1 LYVE1 ITGA9
18 angiosarcoma 30.2 VEGFC PDPN FLT4
19 cystic lymphangioma 30.1 PROX1 PDPN FOXC2 FLT4
20 hemangioma 30.0 VEGFC PROX1 PDPN LYVE1 FLT4
21 inflammatory breast carcinoma 29.9 VEGFD VEGFC PROX1 LYVE1
22 capillary lymphangioma 29.8 PROX1 PDPN LYVE1 FLT4
23 immune hydrops fetalis 29.7 PIEZO1 EPHB4
24 lymphangioleiomyomatosis 29.6 VEGFD VEGFC PDPN NR2F2
25 exudative vitreoretinopathy 1 29.6 VEGFD VEGFC FLT4
26 primary lymphedema 29.5 VEGFD VEGFC SOX18 PIEZO1 GJC2 FOXC2
27 gorham's disease 29.3 VEGFD VEGFC PROX1 PDPN LYVE1 FLT4
28 tetralogy of fallot 28.9 NR2F2 FOXC2 FLT4 EPHB4 CAMTA2
29 lymphedema-distichiasis syndrome 28.7 VEGFC SOX18 PROX1 LYVE1 ITGA9 GJC2
30 hereditary lymphedema 28.5 VEGFD VEGFC SOX18 PROX1 PIEZO1 PDPN
31 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.7
32 lymphedema, primary, with myelodysplasia 11.6
33 hennekam lymphangiectasia-lymphedema syndrome 1 11.5
34 plasma cell leukemia 11.5
35 hennekam lymphangiectasia-lymphedema syndrome 2 11.5
36 hennekam lymphangiectasia-lymphedema syndrome 3 11.5
37 ectodermal dysplasia and immunodeficiency 1 11.5
38 choanal atresia and lymphedema 11.5
39 lymphedema-hypoparathyroidism syndrome 11.4
40 lymphatic malformation 3 11.4
41 lymphatic malformation 6 11.4
42 lymphatic malformation 4 11.4
43 takenouchi-kosaki syndrome 11.4
44 lymphedema and cerebral arteriovenous anomaly 11.4
45 lymphedema, cardiac septal defects, and characteristic facies 11.3
46 hereditary lymphedema ic 11.3
47 warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome 11.3
48 hereditary lymphedema id 11.3
49 irons bhan syndrome 11.2
50 celsr1-related late-onset primary lymphedema 11.2

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



Diseases related to Hereditary Lymphedema I
Sources

Symptoms & Phenotypes for Hereditary Lymphedema I

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UMLS symptoms related to Hereditary Lymphedema I:


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

GenomeRNAi Phenotypes related to Hereditary Lymphedema I according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 CAMTA2 CCBE1 EPHB4 FLT4 FOXC2 GATA2
2 no effect GR00402-S-2 10.19 CAMTA2 FLT4 FOXC2 GATA2 GJC2 IKBKG

MGI Mouse Phenotypes related to Hereditary Lymphedema I:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 CAMTA2 CCBE1 FLT4 FOXC2 GATA2 IKBKG
2 growth/size/body region MP:0005378 10.25 EPHB4 FLT4 FOXC2 GATA2 IKBKG ITGA9
3 normal MP:0002873 10.24 CCBE1 FLT4 FOXC2 GATA2 GJC2 IKBKG
4 cardiovascular system MP:0005385 10.19 CAMTA2 EPHB4 FLT4 FOXC2 GATA2 IKBKG
5 immune system MP:0005387 10.09 CCBE1 EPHB4 FLT4 FOXC2 GJC2 IKBKG
6 muscle MP:0005369 10.08 EPHB4 FLT4 FOXC2 NR2F2 NRP2 PDPN
7 adipose tissue MP:0005375 10 FLT4 FOXC2 IKBKG PROX1 RELN SOX18
8 embryo MP:0005380 9.97 EPHB4 FLT4 FOXC2 GATA2 NR2F2 NRP2
9 mortality/aging MP:0010768 9.93 CAMTA2 CCBE1 EPHB4 FLT4 FOXC2 GATA2
10 digestive/alimentary MP:0005381 9.92 FLT4 FOXC2 IKBKG NR2F2 PDPN PROX1
11 integument MP:0010771 9.28 CCBE1 FLT4 IKBKG NRP2 PCNP PDPN
Sources

Drugs & Therapeutics for Hereditary Lymphedema I

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

(show top 50) (show all 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
2
Hesperidin Approved, Investigational Phase 4 520-26-3 53477767
3
Tocopherol Approved, Investigational Phase 4 1406-66-2
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
8
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 4 59-02-9, 10191-41-0 2116 14985
9
Tocotrienol Investigational Phase 4 6829-55-6 9929901
10 Pharmaceutical Solutions Phase 4
11 Anesthetics, General Phase 4
12 Trace Elements Phase 4
13 Antioxidants Phase 4
14 Micronutrients Phase 4
15 Protective Agents Phase 4
16 Tocotrienols Phase 4
17 Tocopherols Phase 4
18 Anesthetics, Intravenous Phase 4
19 Hypnotics and Sedatives Phase 4
20 Anti-Infective Agents, Local Phase 4
21 Narcotics Phase 4
22 Anesthetics Phase 4
23 Anesthetics, Local Phase 4
24
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
25 Hemostatics Phase 3
26 Anti-Bacterial Agents Phase 3
27 Anti-Infective Agents Phase 3
28 Fibrin Tissue Adhesive Phase 3
29 Coagulants Phase 3
30 Antiprotozoal Agents Phase 3
31 Antiparasitic Agents Phase 3
32 Antimalarials Phase 3
33 Omega 3 Fatty Acid Phase 3
34
Pirfenidone Approved, Investigational Phase 1, Phase 2 53179-13-8 40632
35
Selenium Approved, Investigational, Vet_approved Phase 2 7783-07-5, 7782-49-2 533
36
Selenious acid Approved, Investigational Phase 2 14124-67-5, 7783-00-8 1091
37
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
38
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643
39
Methylene blue Approved, Investigational Phase 2 61-73-4 6099
40
Propranolol Approved, Investigational Phase 2 318-98-9, 525-66-6 62882 4946
41
Ubenimex Investigational Phase 2 58970-76-6 439299
42
Horse chestnut Experimental Phase 2
43 Antiviral Agents Phase 2
44 Anti-Retroviral Agents Phase 2
45 Adjuvants, Immunologic Phase 2
46 Anti-HIV Agents Phase 2
47 HIV Protease Inhibitors Phase 2
48 Antibiotics, Antitubercular Phase 2
49
protease inhibitors Phase 2
50 Vitamins Phase 2

Interventional clinical trials:

(show top 50) (show all 402)
# Name Status NCT ID Phase Drugs
1 Low Level Laser Treatment and Breast Cancer Related Lymphedema Completed NCT00852930 Phase 4
2 Lipid Peroxidation and Options Antioxidant Therapy for Secondary Lymphedema of the Lower Extremities Completed NCT04360889 Phase 4 Micronised purified flavonoid fraction (diosmin+flavonoids expressed as hesperidin);Tocopherol
3 Placebo-controlled, Case-controlled, Open Label Therapeutic Trial for Unilateral or Bilateral Lymphedema of Arm or Leg. Completed NCT02257970 Phase 4 Ketoprofen;Placebo
4 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
5 Comparison of the Analgesic Efficacy of Ultrasound-guided Paravertebral Block and Mid-point Transverse Process Pleura Block in Mastectomy Surgery Completed NCT05332028 Phase 4 bupivacaine;Propofol;fentanyl
6 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
7 A Comparison of Dermal Autograft to Commercially Available Dermal Allograft in Breast Reconstruction Completed NCT01561287 Phase 4
8 Prospective Comparison of Single-Injection Serratus Anterior Plane Block With Ropivacaine Versus Local Infiltration of Anaesthetic After Breast Surgery Recruiting NCT04756791 Phase 4
9 Standardization of Indocyanine Green Lymphography Protocol With Exercise for Lymphedema Assessment Enrolling by invitation NCT03584633 Phase 4 Indocyanine Green
10 Lymphedema Treatment of Post-surgical Upper Limb of Breast Cancer Through Muscle Strengthening Associated With Complex Physical Therapy Completed NCT02574780 Phase 2, 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 DELTA - A Randomized Trial of Decongestive Lymphatic Therapy for Lymphedema in Women With Breast Cancer Completed NCT00201890 Phase 3
13 A Randomized Study to Prevent Lymphedema in Women Treated for Breast Cancer Completed NCT00376597 Phase 3
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 NCT02927496 Phase 3 Doxycycline;Placebo
15 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
16 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 NCT02929121 Phase 3 Doxycycline;Placebo
17 Evaluating the Use of Enhanced Recovery Preoperative Immunonutrition and Carbohydrate Loading Strategies in Immediate Autologous and Alloplastic Breast Reconstruction Completed NCT03764943 Phase 3
18 A Randomized Controlled Trial: Does Immediate Lymphatic Reconstruction Decrease the Incidence of Lymphedema After Axillary Lymph Node Dissection Recruiting NCT04241341 Phase 3
19 Randomized Trial of Hypofractionated LocoRegional Radiotherapy in Breast Cancer and Lymphedema (RHEAL) Recruiting NCT04228991 Phase 3
20 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
21 Prophylactic LYMphatic Reconstruction (LYMbR) to Prevent Lymphedema Not yet recruiting NCT05136079 Phase 3
22 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
23 Treatment of Breast Cancer Related Lymphedema With Cell-assisted Lipotransfer Unknown status NCT02592213 Phase 1, Phase 2
24 Fat Grafting Used for the Treatment of Breast Cancer Related Lymphedema in China Unknown status NCT02981485 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 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
28 Therapeutical Assessment of Compression Armsleeves for Lymphatic Indications (Therapeutische Bewertung Von Armkompressionsstrümpfen für Lymphatische Indikationen BF09-PH-01) Unknown status NCT01318785 Phase 2
29 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 Completed NCT04243837 Phase 1, Phase 2 LYT-100;LYT-100 Food Effect;LYT-100 BCRL;Placebo BCRL
30 Treatment of Breast Cancer-related Lymphedema With Stem Cells and Fat Grafting Completed NCT03776721 Phase 2
31 Tacrolimus as Treatment of Breast Cancer-Related Lymphedema Completed NCT04541290 Phase 1, Phase 2 Protopic 0.1 % Topical Ointment
32 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
33 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
34 Acupuncture for Chronic Lymphedema: A Randomized Wait-list Controlled Trial Completed NCT01706081 Phase 2
35 A Phase II Study of VEGF Inhibition in Patients With Unilateral Upper Extremity Lymphedema Following Treatment for Cancer Completed NCT00827372 Phase 2 Pazopanib
36 Postoperative Lymphedema Treatment in Upper Extremities Following Axillary Lymphadenectomy by Transplanting Autologous Endothelial Progenitor Cells (EPC) Completed NCT01112189 Phase 1, Phase 2
37 Massage Therapy for Breast Cancer-Related Lymphedema Completed NCT00058851 Phase 2
38 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
39 Acupuncture for the Treatment of Chronic Lymphedema: A Feasibility Study Completed NCT01003951 Phase 2
40 Pycnogenol for the Treatment of Lymphedema of the Arm in Breast Cancer Survivors Completed NCT00064857 Phase 2 Pycnogenol
41 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
42 Treatment of Arm Lymphedema in Breast Cancer Survivors: A Double-Blind, Randomized Study of Pycnogenol vs. Placebo Completed NCT00214032 Phase 2 Pycnogenol;Placebo
43 A Limited Access Phase II Trial Utilizing Bioimpedance to Measure Lower Extremity Lymphedema Associated With the Surgical Management of a Vulvar Cancer Completed NCT01406769 Phase 2
44 Double-Blind, Placebo-Controlled, Randomised Trial Of Alpha-Tocopherol And Oxpentifylline In Patients With Radiation Fibrosis Completed NCT00022204 Phase 2 pentoxifylline
45 A Phase II Trial of Image Guided Preoperative Radiotherapy for Primary Soft Tissue Sarcomas of the Extremity Completed NCT00589121 Phase 2 Chemotherapy
46 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
47 A Pilot Placebo-Controlled Trial of Acebilustat (CTX-4430) for the Treatment of Human Upper Extremity Lymphedema Recruiting NCT05203835 Phase 2 Acebilustat;Placebo
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 Prevention of Breast Cancer-related Lymphedma With Tacrolimus Active, not recruiting NCT04390685 Phase 1, Phase 2 Tacrolimus ointment
50 Reducing the Incidence and Severity of Arm Lymphedema With Axillary Reverse Mapping and Implementation of a Lymphedema Screening and Intervention Program Terminated NCT01276054 Phase 2 methylene blue;indocyanine green solution

Search NIH Clinical Center for Hereditary Lymphedema I

Cochrane evidence based reviews: lymphedema

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Genetic Tests for Hereditary Lymphedema I

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Genetic tests related to Hereditary Lymphedema I:

# Genetic test Affiliating Genes
1 Hereditary Lymphedema Type I 28 FLT4
Sources

Anatomical Context for Hereditary Lymphedema I

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Organs/tissues related to Hereditary Lymphedema I:

MalaCards : Lymph Node, Breast, Skin, Endothelial, Heart, Bone Marrow, Prostate
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
Sources

Publications for Hereditary Lymphedema I

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Articles related to Hereditary Lymphedema I:

(show top 50) (show all 9224)
# Title Authors PMID Year
1
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation. 53 62 5
19289394 2009
2
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. 62 5
16965327 2006
3
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. 62 5
16924388 2006
4
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. 53 5
12960217 2003
5
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. 62 5
10856194 2000
6
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. 53 5
10835628 2000
7
Hereditary lymphedema: evidence for linkage and genetic heterogeneity. 62 5
9817924 1998
8
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. 53 62
20450314 2010
9
c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. 53 62
20186799 2010
10
Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2. 53 62
20218083 2009
11
Tumor cell expression of podoplanin correlates with nodal metastasis in esophageal squamous cell carcinoma. 53 62
19554509 2009
12
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. 53 62
19394045 2009
13
Elephantiasis, elastin, and chronic wound healing: 19th century and contemporary viewpoints relevant to hypotheses concerning lymphedema, leprosy, erysipelas, and psoriasis--review and reflections. 53 62
19499764 2009
14
Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas. 53 62
19002718 2009
15
Therapeutic responses to exogenous VEGF-C administration in experimental lymphedema: immunohistochemical and molecular characterization. 53 62
19302023 2009
16
T1alpha/podoplanin is essential for capillary morphogenesis in lymphatic endothelial cells. 53 62
18658274 2008
17
Detection and characterization of vascular endothelial growth factors and their receptors in a series of angiosarcomas. 53 62
18041747 2008
18
[Experimental study of gene therapy with human vascular endothelial growth factor-c in lymphedema]. 53 62
18269031 2007
19
Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. 53 62
17372167 2007
20
An experimental model for the study of lymphedema and its response to therapeutic lymphangiogenesis. 53 62
17176124 2006
21
Update on the molecular genetics of vascular anomalies. 53 62
16379592 2005
22
The VCAM-1 gene that encodes the vascular cell adhesion molecule is a target of the Sry-related high mobility group box gene, Sox18. 53 62
14634005 2004
23
A novel 5q35.3 subtelomeric deletion syndrome. 53 62
12900893 2003
24
Lymphangiogenic growth factors, receptors and therapies. 53 62
12888864 2003
25
Age of onset in hereditary lymphedema. 53 62
12838201 2003
26
VEGF-C gene therapy augments postnatal lymphangiogenesis and ameliorates secondary lymphedema. 53 62
12618526 2003
27
FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. 53 62
12485195 2002
28
Preclinical models of lymphatic disease: the potential for growth factor and gene therapy. 53 62
12543717 2002
29
Insights into the molecular pathogenesis and targeted treatment of lymphedema. 53 62
12543720 2002
30
Molecular control of lymphangiogenesis. 53 62
12386934 2002
31
Lymphedema-distichiasis syndrome and FOXC2 gene mutation. 53 62
12383817 2002
32
Lymphangiogenic gene therapy with minimal blood vascular side effects. 53 62
12235206 2002
33
The transcription factor Prox1 is a marker for lymphatic endothelial cells in normal and diseased human tissues. 53 62
12060670 2002
34
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. 53 62
11889214 2002
35
A model for gene therapy of human hereditary lymphedema. 53 62
11592985 2001
36
Truncating mutations in FOXC2 cause multiple lymphedema syndromes. 53 62
11371511 2001
37
Determinants of quality of life related to lower limb lymphedema in women with gynecological cancer surgery. 62
36406465 2023
38
Guidelines Relevant to Diagnosis, Assessment, and Management of Lymphedema: A Systematic Review. 62
35196892 2023
39
Correction to: Sensory signs and symptoms in women with self-reported breast cancer-related lymphedema: a case-control study. 62
34716888 2022
40
Data for the Spanish adaptation of Breast Cancer and Lymphedema Symptom Experience Index (BCLE SEI Esp). 62
36426092 2022
41
Breast cancer-related lymphedema correlated with incidence of cellulitis and mortality. 62
35960614 2022
42
Letter to the Editor: Comment on Kuruvilla AS, et al. Risk Factors Associated With Postmastectomy Breast Cancer Lymphedema: Amulticenter Retrospective Analysis. ( Ann Plast Surg. 2022;88(3 suppl 3):S239-S245). 62
36416710 2022
43
Occurrence of breast-cancer-related lymphedema after reverse lymphatic mapping and selective axillary dissection versus standard surgical treatment of axilla: A two-arm randomized clinical trial. 62
36259883 2022
44
Comparison of machine learning models for predicting the risk of breast cancer-related lymphedema in Chinese women. 62
36276882 2022
45
Invited Commentary from the Authors of: Kuruvilla AS, et al. Risk Factors Associated With Postmastectomy Breast Cancer Lymphedema: Amulticenter Retrospective Analysis. 62
36416711 2022
46
Role of lower extremity fasciectomy plus fasciotomy for patients with persistent leg pain after stenting for chronic iliofemoral venous obstruction. 62
36248401 2022
47
Does Preventive Negative Pressure Wound Therapy (NPWT) reduce local complications following Lymph Node Dissection (LND) in the management of metastatic skin tumors? 62
36283927 2022
48
Enhancing lymphangiogenesis and lymphatic drainage to vascularized lymph nodes with nanofibrillar collagen scaffolds. 62
35950942 2022
49
Rest/Stress Intradermal Lymphoscintigraphy for the Functional Imaging of the Lymphatic System. 62
36183418 2022
50
Use of fluorescence imaging during lymphatic surgery: A Delphi survey of experts worldwide. 62
36427924 2022
Sources

Variations for Hereditary Lymphedema I

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ClinVar genetic disease variations for Hereditary Lymphedema I:

5 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLT4 NM_182925.5(FLT4):c.2569G>A (p.Gly857Arg) SNV Pathogenic
 16259 rs267606818 GRCh37: 5:180046743-180046743
GRCh38: 5:180619743-180619743
2 FLT4 NM_182925.5(FLT4):c.3122G>C (p.Arg1041Pro) SNV Pathogenic
 16260 rs121909650 GRCh37: 5:180043464-180043464
GRCh38: 5:180616464-180616464
3 FLT4 NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro) SNV Pathogenic
 16261 rs121909651 GRCh37: 5:180043455-180043455
GRCh38: 5:180616455-180616455
4 FLT4 NM_182925.5(FLT4):c.3341C>T (p.Pro1114Leu) SNV Pathogenic
 16262 rs121909652 GRCh37: 5:180040101-180040101
GRCh38: 5:180613101-180613101
5 FLT4 NM_182925.5(FLT4):c.3104A>G (p.His1035Arg) SNV Pathogenic
 16263 rs121909653 GRCh37: 5:180043482-180043482
GRCh38: 5:180616482-180616482
6 FLT4 NM_182925.5(FLT4):c.2632G>A (p.Val878Met) SNV Pathogenic
 16265 rs121909654 GRCh37: 5:180046680-180046680
GRCh38: 5:180619680-180619680
7 FLT4 NM_182925.5(FLT4):c.3257T>C (p.Ile1086Thr) SNV Pathogenic
 16266 rs121909655 GRCh37: 5:180041142-180041142
GRCh38: 5:180614142-180614142
8 FLT4 NM_182925.5(FLT4):c.3316G>A (p.Glu1106Lys) SNV Pathogenic
 16267 rs121909656 GRCh37: 5:180041083-180041083
GRCh38: 5:180614083-180614083
9 FLT4 NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr) SNV Pathogenic
 16269 rs121909657 GRCh37: 5:180046749-180046749
GRCh38: 5:180619749-180619749
10 FLT4 NM_182925.5(FLT4):c.3320TCT[1] (p.Phe1108del) MICROSAT Pathogenic
 16268 rs587776833 GRCh37: 5:180041074-180041076
GRCh38: 5:180614074-180614076
11 EPHB4 NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu) SNV Pathogenic
 1700049 GRCh37: 7:100410476-100410476
GRCh38: 7:100812854-100812854
12 FLT4 NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp) SNV Likely Pathogenic
 692043 rs1451816005 GRCh37: 5:180043465-180043465
GRCh38: 5:180616465-180616465
13 EPHB4 NM_004444.5(EPHB4):c.1423-6G>A SNV Likely Pathogenic
 994305 rs762817852 GRCh37: 7:100414985-100414985
GRCh38: 7:100817363-100817363
14 FLT4 NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) SNV Likely Pathogenic
 932061 rs1762335528 GRCh37: 5:180040032-180040032
GRCh38: 5:180613032-180613032
15 FLT4 NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val) SNV Likely Pathogenic
 1030389 rs1761973773 GRCh37: 5:180036040-180036040
GRCh38: 5:180609040-180609040
16 FLT4 NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser) SNV Uncertain Significance
 930398 rs1762428823 GRCh37: 5:180041152-180041152
GRCh38: 5:180614152-180614152
17 FLT4 NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala) SNV Uncertain Significance
 930555 rs1189576922 GRCh37: 5:180038407-180038407
GRCh38: 5:180611407-180611407
18 FLT4 NM_182925.5(FLT4):c.1093G>A (p.Glu365Lys) SNV Uncertain Significance
 1683756 GRCh37: 5:180055892-180055892
GRCh38: 5:180628892-180628892
19 FLT4 NM_182925.5(FLT4):c.1984G>A (p.Asp662Asn) SNV Uncertain Significance
 1319628 GRCh37: 5:180048578-180048578
GRCh38: 5:180621578-180621578
20 FLT4 NM_182925.5(FLT4):c.3198C>T (p.Pro1066=) SNV Benign
 263044 rs1130378 GRCh37: 5:180043388-180043388
GRCh38: 5:180616388-180616388
21 FLT4 NM_182925.5(FLT4):c.1103+20A>C SNV Benign
 263017 rs383985 GRCh37: 5:180055862-180055862
GRCh38: 5:180628862-180628862
22 FLT4 NM_182925.5(FLT4):c.2168-49G>A SNV Benign
 263034 rs2242214 GRCh37: 5:180048056-180048056
GRCh38: 5:180621056-180621056
23 FLT4 NM_182925.5(FLT4):c.2299+13G>C SNV Benign
 263036 rs423086 GRCh37: 5:180047863-180047863
GRCh38: 5:180620863-180620863
24 FLT4 NM_182925.5(FLT4):c.2670C>G (p.His890Gln) SNV Benign
 263039 rs448012 GRCh37: 5:180046344-180046344
GRCh38: 5:180619344-180619344
25 FLT4 NM_182925.5(FLT4):c.2761+44G>A SNV Benign
 263040 rs446003 GRCh37: 5:180046209-180046209
GRCh38: 5:180619209-180619209
26 FLT4 NM_182925.5(FLT4):c.1103+18C>T SNV Benign
 263016 rs438464 GRCh37: 5:180055864-180055864
GRCh38: 5:180628864-180628864
27 FLT4 NM_182925.5(FLT4):c.1104-42T>C SNV Benign
 263020 rs402647 GRCh37: 5:180053307-180053307
GRCh38: 5:180626307-180626307
28 FLT4 NM_182925.5(FLT4):c.3220-29A>G SNV Benign
 263049 rs659268 GRCh37: 5:180041208-180041208
GRCh38: 5:180614208-180614208
Sources

Expression for Hereditary Lymphedema I

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

Pathways for Hereditary Lymphedema I

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 64
Show member pathways
 12.82 VEGFD VEGFC NRP2 ITGA9 FLT4
2
p70S6K Signaling 64
Show member pathways
 12.76 EPHB4 FLT4 IKBKG NRP2 VEGFC VEGFD
3
PI3K-Akt signaling pathway 74
Show member pathways
 12.65 VEGFD VEGFC RELN ITGA9 IKBKG FLT4
4
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.16 VEGFD VEGFC ITGA9 FLT4 EPHB4
5
VEGF Pathway (Qiagen) 64
Show member pathways
 12.11 VEGFD VEGFC NRP2 IKBKG FLT4
6
Signaling by VEGF 66
Show member pathways
 12.07 VEGFD VEGFC NRP2 FLT4
7
Focal adhesion 74
12.03 VEGFD VEGFC RELN ITGA9
8
Tyrosine Kinases / Adaptors 3
11.86 VEGFC FLT4 EPHB4
9
Angiogenesis (CST) 3
10.97 VEGFC PROX1 PDPN NRP2 FLT4
10
Alpha9 beta1 integrin signaling events 61
10.83 VEGFD VEGFC ITGA9
11
G-protein signaling_Rap2B regulation pathway 22
10.8 VEGFD VEGFC ITGA9 FLT4 EPHB4
12
VEGFR3 signaling in lymphatic endothelium 61
10.71 VEGFD VEGFC FLT4
13
VEGF ligand-receptor interactions 66
Show member pathways
 10.34 VEGFD VEGFC FLT4
Sources

GO Terms for Hereditary Lymphedema I

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.27 VEGFD VEGFC SOX18 NRP2 NR2F2 GATA2
2 positive regulation of angiogenesis GO:0045766 10.17 VEGFD VEGFC GATA2 CCBE1
3 anatomical structure morphogenesis GO:0009653 10.1 SOX18 LYVE1 GATA2 FOXC2
4 positive regulation of endothelial cell proliferation GO:0001938 10.1 VEGFD VEGFC PROX1 NRP2 FLT4
5 positive regulation of endothelial cell migration GO:0010595 10.07 PROX1 NRP2 FOXC2 FLT4 CCBE1
6 sprouting angiogenesis GO:0002040 10.06 VEGFD VEGFC FLT4 CCBE1
7 vascular endothelial growth factor receptor signaling pathway GO:0048010 10.03 FLT4 FOXC2 VEGFC VEGFD
8 neuron migration GO:0001764 9.99 RELN NRP2 NR2F2 GATA2
9 angiogenesis GO:0001525 9.93 VEGFD VEGFC SOX18 NRP2 GATA2 FLT4
10 interneuron migration GO:1904936 9.88 RELN NR2F2
11 vascular endothelial growth factor signaling pathway GO:0038084 9.86 FLT4 NRP2 VEGFC VEGFD
12 venous blood vessel morphogenesis GO:0048845 9.85 PROX1 CCBE1
13 positive regulation of mast cell chemotaxis GO:0060754 9.84 VEGFC VEGFD
14 lymphatic endothelial cell differentiation GO:0060836 9.83 PROX1 SOX18
15 endocardium formation GO:0060214 9.8 SOX18 PROX1
16 lymphatic endothelial cell fate commitment GO:0060838 9.8 PROX1 PDPN NR2F2
17 positive regulation of lymphangiogenesis GO:1901492 9.78 VEGFC CCBE1
18 lymphangiogenesis GO:0001946 9.73 SOX18 PROX1 PDPN FOXC2 FLT4 CCBE1
19 lymph vessel development GO:0001945 9.17 SOX18 PROX1 NR2F2 FOXC2 FLT4 CCBE1

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.61 SOX18 PROX1 NR2F2 GATA2 FOXC2 CAMTA2
2 vascular endothelial growth factor receptor activity GO:0005021 9.56 NRP2 FLT4
3 vascular endothelial growth factor receptor binding GO:0005172 9.46 VEGFD VEGFC
4 vascular endothelial growth factor receptor 3 binding GO:0043185 8.92 VEGFD VEGFC
Sources

Sources for Hereditary Lymphedema I

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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