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MCID: CNG439
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Congenital Lymphedema

Categories: Blood diseases, Cancer diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Congenital Lymphedema

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MalaCards integrated aliases for Congenital Lymphedema:

Name: Congenital Lymphedema 53 55
Milroy Disease 73

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Cancer diseases
Anatomical: Immune diseases Neuronal diseases Reproductive diseases Oral diseases Gastrointestinal diseases Blood diseases
See all MalaCards categories (disease lists)


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UMLS 73 C1704423
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Summaries for Congenital Lymphedema

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MalaCards based summary : Congenital Lymphedema, also known as milroy disease, is related to lymphedema and klippel-trenaunay-weber syndrome. An important gene associated with Congenital Lymphedema is FLT4 (Fms Related Tyrosine Kinase 4), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Pathways in cancer. The drugs Paroxetine and Neurotransmitter Uptake Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include lymph node, bone and heart, and related phenotypes are cardiovascular system and mortality/aging

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Related Diseases for Congenital Lymphedema

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Diseases in the Lymphedema family:

Lymphedema, Hereditary, Ia Lymphedema, Hereditary, Ii
Lymphedema, Congenital Recessive Lymphedema, Hereditary, Ib
Lymphedema, Hereditary, Ic Lymphedema, Hereditary, Id
Lymphedema, Hereditary, Iii Hereditary Lymphedema
Hereditary Lymphedema I Congenital Lymphedema

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 lymphedema 30.6 FLT4 FOXC2 KIF11 VEGFC
2 klippel-trenaunay-weber syndrome 29.7 FLT4 FOXC2
3 lymphangiosarcoma 29.6 FLT4 PDPN VEGFC
4 agenesis of the corpus callosum and congenital lymphedema 12.2
5 lymphedema, hereditary, ia 11.7
6 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
7 dahlberg borer newcomer syndrome 11.1
8 microcephaly 10.1
9 tuberous sclerosis 10.1
10 orbital lymphangioma 10.0 FLT4 PDPN
11 hobnail hemangioma 10.0 FLT4 PDPN
12 hemangioma 10.0 FLT4 PDPN
13 chylothorax, congenital 10.0 FLT4 FOXC2
14 distichiasis 10.0
15 gorham's disease 10.0 FLT4 VEGFC
16 venous malformations, multiple cutaneous and mucosal 10.0 FLT4 FOXC2
17 hennekam syndrome 10.0 FLT4 VEGFC
18 mucinous cystadenocarcinoma of the pancreas 10.0 PDPN VEGFC
19 breast carcinoma in situ 9.9 FLT4 VEGFC
20 microcephaly, autosomal dominant 9.9
21 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
22 squamous cell carcinoma 9.9
23 elephantiasis 9.9
24 fetal edema 9.9
25 hydrops fetalis 9.9
26 lymphangioma 9.8 FLT4 PDPN VEGFC
27 lymphatic system disease 9.8 FLT4 FOXC2 VEGFC
28 hirschsprung disease 1 9.8
29 ascites, chylous 9.8
30 cerebellar hypoplasia 9.8
31 angiosarcoma 9.8
32 rheumatic heart disease 9.8
33 endocarditis 9.8
34 hypoparathyroidism 9.8
35 heart disease 9.8
36 purpura 9.8
37 palmoplantar keratosis 9.8
38 cellulitis 9.8
39 angiokeratoma 9.8
40 fasciitis 9.8
41 necrotizing fasciitis 9.8
42 lymphangiectasis 9.8
43 lymphatic malformations 9.8
44 lymphangioleiomyomatosis 9.7 VEGFC VEGFD
45 hereditary lymphedema 9.7 FLT4 FOXC2 HNRNPH1 VEGFC
46 breast ductal carcinoma 9.6 VEGFC VEGFD
47 lung cancer susceptibility 3 9.6 FLT4 VEGFC VEGFD

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



Diseases related to Congenital Lymphedema
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Symptoms & Phenotypes for Congenital Lymphedema

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MGI Mouse Phenotypes related to Congenital Lymphedema:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 FLT4 FOXC2 PDPN VEGFC VEGFD
2 mortality/aging MP:0010768 9.1 FLT4 FOXC2 KIF11 PDPN VEGFC VEGFD
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Drugs & Therapeutics for Congenital Lymphedema

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
2 Neurotransmitter Uptake Inhibitors Phase 3
3 Psychotropic Drugs Phase 3
4 Antidepressive Agents Phase 3
5 Antidepressive Agents, Second-Generation Phase 3
6 Cytochrome P-450 Enzyme Inhibitors Phase 3
7 Serotonin Uptake Inhibitors Phase 3
8 Serotonin Agents Phase 3
9 Neurotransmitter Agents Phase 3,Phase 2
10 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
11
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
12
Propranolol Approved, Investigational Phase 2 525-66-6 4946
13
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
14 Vasodilator Agents Phase 2
15 Adrenergic Agents Phase 2
16 Anti-Arrhythmia Agents Phase 2
17 Adrenergic beta-Antagonists Phase 2
18 Antihypertensive Agents Phase 2
19 Adrenergic Antagonists Phase 2
20 interferons Phase 2
21 Adjuvants, Immunologic Phase 2
22 Interferon Inducers Phase 2
23 Immunologic Factors Phase 2
24
Glucosamine Approved, Investigational 3416-24-8 439213
25 Glucuronyl glucosamine glycan sulfate
26 Anticoagulants
27 Lipid Regulating Agents
28 Anesthetics
29 Hypoglycemic Agents
30 Hypolipidemic Agents
31 Fibrinolytic Agents
32 Antimetabolites
33 Complement System Proteins

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Efficacy/Safety Study of Brisdelle™ (Formerly Known as Mesafem) in the Treatment of Vasomotor Symptoms (VMS) Completed NCT01361308 Phase 3 Brisdelle (paroxetine mesylate);Placebo capsules
2 A Study of Oral VT-1161 for the Treatment of Patients With Recurrent Vaginal Candidiasis (Yeast Infection) Recruiting NCT03561701 Phase 3 VT-1161;Placebo
3 Propranolol Dose Escalation in Lymphedema in Patients Recruiting NCT02595996 Phase 2 Propranolol
4 Evaluation of VGX-3100 and Electroporation Alone or in Combination With Imiquimod for the Treatment of HPV-16 and/or HPV-18 Related Vulvar HSIL (Also Referred as: VIN 2 or VIN 3) Recruiting NCT03180684 Phase 2 Imiquimod 5% cream
5 Out-of Pocket Payments in Patients With Lymphedema Unknown status NCT02988479
6 Out-of Pocket Payments With Lymphedema in France Unknown status NCT02988505
7 Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment Unknown status NCT01273909
8 Validation of Metrological Properties of Lymphoqol Unknown status NCT01922635 Not Applicable
9 Validation of a New Method of Limb Volumetry Unknown status NCT01574911
10 Physical Therapies in the Decongestive Treatment of Lymphedema Completed NCT01748604 Not Applicable
11 Histologic Analysis of the Lymphatic Vessels Used for Supermicrosurgical Lymphatico-venous Anastomoses in Lymphedema Recruiting NCT03465930
12 Oedema Study : Chroedem Recruiting NCT02914808
13 A Pilot Study to Evaluate the Feasibility and Potential Effectiveness of the Flexitouch System Head and Neck Treatment Recruiting NCT03332160 Not Applicable
14 Quality of Life Changes on Lower Extremity Lymphedema Patients Using an Advanced Pneumatic Compression Device (PCD) Recruiting NCT02661646
15 Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders Enrolling by invitation NCT00833599 NIRFLI with ICG

Search NIH Clinical Center for Congenital Lymphedema

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Genetic Tests for Congenital Lymphedema

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Anatomical Context for Congenital Lymphedema

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MalaCards organs/tissues related to Congenital Lymphedema:

41
Lymph Node, Bone, Heart, Lung, Breast, Pancreas
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Publications for Congenital Lymphedema

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Articles related to Congenital Lymphedema:

(show top 50) (show all 85)
# Title Authors Year
1
Primary Congenital Lymphedema. ( 29762243 )
2018
2
Warty Fingers and Toes in a Child With Congenital Lymphedema: Elephantiasis Nostras Verrucosa. ( 29710245 )
2018
3
Unilateral Primary Congenital Lymphedema of the Upper Limb in an 11-Month-Old Infant: A Clinical and Pharmacological Perspective. ( 30337988 )
2018
4
Near-Infrared Fluorescence Lymphatic Imaging of a Toddler With Congenital Lymphedema. ( 28356336 )
2017
5
An unusual case of Corynebacterium striatum endocarditis in a patient with congenital lymphedema and rheumatic heart disease. ( 27751312 )
2016
6
Milroy Disease or Primary Congenital Lymphedema Associated With Invasive Squamous Cell Carcinoma. ( 27374380 )
2016
7
Complex decongestive physical therapy and low-level laser therapy for the treatment of pediatric congenital lymphedema: a case report. ( 26180372 )
2015
8
Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11. ( 25764055 )
2015
9
Vascularized lymph node flap transfer and lymphovenous anastomosis for klippel-trenaunay syndrome with congenital lymphedema. ( 25289360 )
2014
10
Adaptations in the treatment of congenital lymphedema centered on the quality of life. ( 24715912 )
2014
11
Congenital Lymphedema Complicated by Pain and Psychological Distress: Case Report. ( 23615316 )
2013
12
Squamous cell carcinoma arising from congenital lymphedema. ( 27489627 )
2013
13
Primary congenital lymphedema complicated by hydrops fetalis: a case report and review of the literature. ( 23533860 )
2013
14
Cutaneous epithelioid clear cells angiosarcoma in a young woman with congenital lymphedema. ( 24078891 )
2013
15
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. ( 22284827 )
2012
16
The godoy & godoy cervical stimulation technique in the treatment of primary congenital lymphedema. ( 25396036 )
2012
17
Surgical treatment of congenital lymphedema. ( 23036288 )
2012
18
Congenital lymphedema: another unique and gender specific stigmata of tuberous sclerosis? ( 23144114 )
2012
19
Prenatal diagnosis of Milroy's primary congenital lymphedema. ( 22795109 )
2012
20
Endovascular Repair of an Infected Ruptured Isolated Iliac Artery Aneurysm Combined With Congenital Lymphedema: Report of a Case. ( 22549906 )
2012
21
Congenital lymphedema with tuberous sclerosis and clinical Hirschsprung disease. ( 20738790 )
2011
22
The role of lymphoscintigraphy in diagnosis and monitor the response of physiotherapeutic technique in congenital lymphedema. ( 21368595 )
2011
23
Prenatal diagnosis of Milroy disease. ( 22021048 )
2011
24
Home-made compression stockings and shoes of a cotton-polyester material in the treatment of primary congenital lymphedema. ( 20882431 )
2010
25
Re: "conjunctival edema and distichiasis in association with congenital lymphedema of the lower legs". ( 20489560 )
2010
26
Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? ( 20583147 )
2010
27
Milroy's primary congenital lymphedema in a male infant and review of the literature. ( 20555004 )
2010
28
Surgical treatment of elephantiasis of the feet in congenital lymphedema to facilitate the use of a compression mechanism. ( 20463829 )
2010
29
Lymphatic dysfunction, not aplasia, underlies Milroy disease. ( 20536741 )
2010
30
Conjunctival edema and distichiasis in association with congenital lymphedema of the lower legs. ( 19300167 )
2009
31
Hereditary palmoplantar keratoderma associated with primary (congenital) lymphedema. ( 19725273 )
2009
32
Lymphangiectasia of the vulva accompanying congenital lymphedema. ( 19450406 )
2009
33
Purpura-associated congenital lymphedema. ( 19620038 )
2009
34
Puffy feet in an 11-month-old infant: a quiz. Milroy disease. ( 19997714 )
2009
35
Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment. ( 18496391 )
2008
36
Congenital lymphedema of the upper extremity. A case report. ( 18385633 )
2008
37
Functional magnetic resonance evidence of cortical alterations in a case of reversible congenital lymphedema of the lower limb: a pilot study. ( 17539461 )
2007
38
Three children with Milroy disease and de novo mutations in VEGFR3. ( 17250670 )
2007
39
Prenatal sonographic diagnosis of milroy congenital lymphedema. ( 16567442 )
2006
40
Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema. ( 16231305 )
2005
41
Recurrent giant fibroepithelial stromal polyp of the vulva associated with congenital lymphedema. ( 15963814 )
2005
42
Primary congenital lymphedema involving all limbs and genitalia. ( 16519001 )
2005
43
Images in clinical medicine. Congenital lymphedema. ( 14762199 )
2004
44
Tuberous sclerosis and congenital lymphedema. ( 12869168 )
2003
45
Verruciform xanthoma in association with milroy disease and leaky capillary syndrome. ( 12558846 )
2003
46
Prenatal diagnosis of Milroy's primary congenital lymphedema. ( 12224079 )
2002
47
Physiotherapy results in a baby with congenital lymphedema: a follow-up study. ( 12458815 )
2002
48
Congenital lymphedema presenting with increased nuchal translucency at 13 weeks of gestation. ( 11857608 )
2002
49
Lymphoscintigraphic evaluation of congenital lymphedema of the newborn. ( 11953585 )
2002
50
Congenital lymphedema and distichiasis. ( 11994178 )
2002
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Variations for Congenital Lymphedema

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Expression for Congenital Lymphedema

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Search GEO for disease gene expression data for Congenital Lymphedema.
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Pathways for Congenital Lymphedema

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Pathways related to Congenital Lymphedema according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.89 KIF11 PDPN VEGFC VEGFD
2
Pathways in cancer 37
12.47 FLT4 VEGFC VEGFD
3
MAPK signaling pathway 37 1
12.39 FLT4 VEGFC VEGFD
4
Ras signaling pathway 37
Show member pathways
 12.35 FLT4 VEGFC VEGFD
5
NF-KappaB Family Pathway 64
Show member pathways
 12.29 FLT4 VEGFC VEGFD
6
TRAF Pathway 64
Show member pathways
 12.23 FLT4 VEGFC VEGFD
7
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.03 FLT4 VEGFC VEGFD
8
VEGF Pathway (Qiagen) 22
Show member pathways
 11.92 FLT4 VEGFC VEGFD
9
RhoGDI Pathway 64
Show member pathways
 11.88 FLT4 VEGFC VEGFD
10
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 11.82 FLT4 VEGFC VEGFD
11
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.67 FLT4 VEGFC VEGFD
12
AGE-RAGE signaling pathway in diabetic complications 37
11.58 VEGFC VEGFD
13
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.53 FLT4 VEGFC
14
Angiogenesis (CST) 4
11.28 FLT4 PDPN VEGFC
15
HIF1Alpha Pathway 64
11.19 VEGFC VEGFD
16
Heart Development 1
11.07 FOXC2 VEGFC
17
G-protein signaling_Rap2B regulation pathway 22
10.67 FLT4 VEGFC VEGFD
18
Cytoskeleton remodeling_RalB regulation pathway 22
10.58 FLT4 VEGFC VEGFD
19
VEGFR3 signaling in lymphatic endothelium 1
10.49 FLT4 VEGFC VEGFD
20
VEGF binds to VEGFR leading to receptor dimerization 66
Show member pathways
 10 FLT4 VEGFC VEGFD
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GO Terms for Congenital Lymphedema

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Cellular components related to Congenital Lymphedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 VEGFC VEGFD

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 FOXC2 PDPN VEGFC VEGFD
2 cell differentiation GO:0030154 9.8 FLT4 FOXC2 VEGFC VEGFD
3 positive regulation of cell proliferation GO:0008284 9.73 FLT4 VEGFC VEGFD
4 angiogenesis GO:0001525 9.65 FLT4 VEGFC VEGFD
5 positive regulation of protein phosphorylation GO:0001934 9.63 FLT4 VEGFC VEGFD
6 positive regulation of endothelial cell migration GO:0010595 9.54 FLT4 FOXC2
7 positive chemotaxis GO:0050918 9.52 VEGFC VEGFD
8 positive regulation of cell division GO:0051781 9.51 VEGFC VEGFD
9 positive regulation of endothelial cell proliferation GO:0001938 9.5 FLT4 VEGFC VEGFD
10 induction of positive chemotaxis GO:0050930 9.43 VEGFC VEGFD
11 sprouting angiogenesis GO:0002040 9.43 FLT4 VEGFC VEGFD
12 lymph vessel development GO:0001945 9.4 FLT4 FOXC2
13 positive regulation of mast cell chemotaxis GO:0060754 9.37 VEGFC VEGFD
14 vascular endothelial growth factor signaling pathway GO:0038084 9.33 FLT4 VEGFC VEGFD
15 lymphangiogenesis GO:0001946 9.13 FLT4 FOXC2 PDPN
16 vascular endothelial growth factor receptor signaling pathway GO:0048010 8.92 FLT4 FOXC2 VEGFC VEGFD

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

# Name GO ID Score Top Affiliating Genes
1 chemoattractant activity GO:0042056 8.96 VEGFC VEGFD
2 vascular endothelial growth factor receptor 3 binding GO:0043185 8.62 VEGFC VEGFD
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Sources for Congenital Lymphedema

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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