MCID: CNG439
MIFTS: 39

Congenital Lymphedema

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Congenital Lymphedema

MalaCards integrated aliases for Congenital Lymphedema:

Name: Congenital Lymphedema 54 56
Milroy Disease 74

Classifications:



External Ids:

UMLS 74 C1704423

Summaries for Congenital Lymphedema

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 Cytochrome P-450 Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include breast, lymph node and bone, and related phenotypes are cardiovascular system and mortality/aging

Related Diseases for Congenital Lymphedema

Diseases in the Lymphedema family:

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

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 30.4 FLT4 FOXC2 KIF11 VEGFC
2 klippel-trenaunay-weber syndrome 29.7 FLT4 FOXC2
3 lymphangiosarcoma 29.5 FLT4 PDPN VEGFC
4 agenesis of the corpus callosum and congenital lymphedema 12.2
5 lymphatic malformation 1 11.7
6 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
7 dahlberg borer newcomer syndrome 11.2
8 microcephaly 10.1
9 tuberous sclerosis 10.1
10 orbital lymphangioma 10.1 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 9.9 PDPN VEGFC
19 microcephaly, autosomal dominant 9.9
20 lymphatic malformation 7 9.9
21 squamous cell carcinoma 9.9
22 elephantiasis 9.9
23 fetal edema 9.9
24 hydrops fetalis 9.9
25 breast carcinoma in situ 9.9 FLT4 VEGFC
26 hirschsprung disease 1 9.8
27 ascites, chylous 9.8
28 cerebellar hypoplasia 9.8
29 angiosarcoma 9.8
30 rheumatic heart disease 9.8
31 endocarditis 9.8
32 hypoparathyroidism 9.8
33 heart disease 9.8
34 purpura 9.8
35 palmoplantar keratosis 9.8
36 cellulitis 9.8
37 angiokeratoma 9.8
38 fasciitis 9.8
39 necrotizing fasciitis 9.8
40 lymphangiectasis 9.8
41 lymphatic malformations 9.8
42 lymphangioma 9.7 FLT4 PDPN VEGFC
43 lymphatic system disease 9.7 FLT4 FOXC2 VEGFC
44 lymphangioleiomyomatosis 9.6 VEGFC VEGFD
45 hereditary lymphedema 9.5 FLT4 FOXC2 HNRNPH1 VEGFC
46 breast ductal carcinoma 9.4 VEGFC VEGFD
47 lung cancer susceptibility 3 9.4 FLT4 VEGFC VEGFD

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



Diseases related to Congenital Lymphedema

Symptoms & Phenotypes for Congenital Lymphedema

MGI Mouse Phenotypes related to Congenital Lymphedema:

47
# 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

Drugs & Therapeutics for Congenital Lymphedema

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
2 Cytochrome P-450 Enzyme Inhibitors Phase 3
3 Antidepressive Agents Phase 3
4 Neurotransmitter Uptake Inhibitors Phase 3
5 Antidepressive Agents, Second-Generation Phase 3
6 Psychotropic Drugs Phase 3
7 Neurotransmitter Agents Phase 3,Phase 2
8 Serotonin Agents Phase 3
9 Serotonin Uptake Inhibitors Phase 3
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 Adrenergic Agents Phase 2
15 Antihypertensive Agents Phase 2
16 Anti-Arrhythmia Agents Phase 2
17 Adrenergic beta-Antagonists Phase 2
18 Vasodilator Agents Phase 2
19 Adrenergic Antagonists Phase 2
20 interferons Phase 2
21 Interferon Inducers Phase 2
22 Adjuvants, Immunologic Phase 2
23 Immunologic Factors Phase 2
24 Anesthetics
25 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 Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment Unknown status NCT01273909
6 Validation of Metrological Properties of Lymphoqol Unknown status NCT01922635 Not Applicable
7 Validation of a New Method of Limb Volumetry Unknown status NCT01574911
8 Out-of Pocket Payments in Patients With Lymphedema Completed NCT02988479
9 Out-of Pocket Payments With Lymphedema in France Completed NCT02988505
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

Genetic Tests for Congenital Lymphedema

Anatomical Context for Congenital Lymphedema

MalaCards organs/tissues related to Congenital Lymphedema:

42
Breast, Lymph Node, Bone, Heart

Publications for Congenital Lymphedema

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
Congenital lymphedema presenting with increased nuchal translucency at 13 weeks of gestation. ( 11857608 )
2002
47
Lymphoscintigraphic evaluation of congenital lymphedema of the newborn. ( 11953585 )
2002
48
Congenital lymphedema and distichiasis. ( 11994178 )
2002
49
Prenatal diagnosis of Milroy's primary congenital lymphedema. ( 12224079 )
2002
50
Physiotherapy results in a baby with congenital lymphedema: a follow-up study. ( 12458815 )
2002

Variations for Congenital Lymphedema

Expression for Congenital Lymphedema

Search GEO for disease gene expression data for Congenital Lymphedema.

Pathways for Congenital Lymphedema

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 KIF11 PDPN VEGFC VEGFD
2 12.47 FLT4 VEGFC VEGFD
3 12.38 FLT4 VEGFC VEGFD
4
Show member pathways
12.34 FLT4 VEGFC VEGFD
5
Show member pathways
12.27 FLT4 VEGFC VEGFD
6
Show member pathways
12.22 FLT4 VEGFC VEGFD
7
Show member pathways
12.02 FLT4 VEGFC VEGFD
8
Show member pathways
11.87 FLT4 VEGFC VEGFD
9
Show member pathways
11.81 FLT4 VEGFC VEGFD
10
Show member pathways
11.79 FLT4 VEGFC VEGFD
11
Show member pathways
11.65 FLT4 VEGFC VEGFD
12 11.58 VEGFC VEGFD
13
Show member pathways
11.52 FLT4 VEGFC
14 11.17 VEGFC VEGFD
15 11.08 FLT4 PDPN VEGFC
16 11.03 FOXC2 VEGFC
17 10.66 FLT4 VEGFC VEGFD
18 10.48 FLT4 VEGFC VEGFD
19 10.16 FLT4 VEGFC VEGFD

GO Terms for Congenital Lymphedema

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 positive regulation of cell proliferation GO:0008284 9.73 FLT4 VEGFC VEGFD
3 cell differentiation GO:0030154 9.67 FOXC2 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

Sources for Congenital Lymphedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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