MCID: CNG439
MIFTS: 38

Congenital Lymphedema

Categories: Rare diseases, Immune diseases, Genetic diseases, Neuronal diseases, Reproductive diseases, Muscle diseases, Oral diseases, Cardiovascular diseases

Aliases & Classifications for Congenital Lymphedema

MalaCards integrated aliases for Congenital Lymphedema:

Name: Congenital Lymphedema 53 55
Milroy Disease 73

Classifications:



External Ids:

UMLS 73 C1704423

Summaries for Congenital Lymphedema

MalaCards based summary : Congenital Lymphedema, also known as milroy disease, is related to klippel-trenaunay-weber syndrome and lymphangiosarcoma. 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 Serotonin Agents have been mentioned in the context of this disorder. Affiliated tissues include breast, heart and lymph node, and related phenotypes are cardiovascular system and mortality/aging

Related Diseases for Congenital Lymphedema

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
Congenital Lymphedema

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 klippel-trenaunay-weber syndrome 29.5 FLT4 FOXC2
2 lymphangiosarcoma 28.9 FLT4 PDPN VEGFC
3 lymphedema 28.4 FLT4 FOXC2 HNRNPH1 KIF11 VEGFC
4 agenesis of the corpus callosum and congenital lymphedema 12.1
5 lymphedema, hereditary, ia 11.5
6 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.1
7 dahlberg borer newcomer syndrome 11.0
8 orbital lymphangioma 10.1 FLT4 PDPN
9 hobnail hemangioma 10.1 FLT4 PDPN
10 chylothorax, congenital 10.1 FLT4 FOXC2
11 gorham's disease 10.0 FLT4 VEGFC
12 venous malformations, multiple cutaneous and mucosal 10.0 FLT4 FOXC2
13 hennekam syndrome 9.9 FLT4 VEGFC
14 mucinous cystadenocarcinoma of the pancreas 9.9 PDPN VEGFC
15 breast carcinoma in situ 9.8 FLT4 VEGFC
16 distichiasis 9.8
17 microcephaly, autosomal dominant 9.8
18 hydrops fetalis, nonimmune, and/or atrial septal defect 9.8
19 microcephaly 9.8
20 tuberous sclerosis 9.8
21 squamous cell carcinoma 9.8
22 elephantiasis 9.8
23 fetal edema 9.8
24 hydrops fetalis 9.8
25 hemangioma 9.7 FLT4 PDPN
26 hereditary lymphedema 9.7 FLT4 FOXC2 HNRNPH1
27 hirschsprung disease 1 9.6
28 ascites, chylous 9.6
29 cerebellar hypoplasia 9.6
30 angiosarcoma 9.6
31 rheumatic heart disease 9.6
32 endocarditis 9.6
33 heart disease 9.6
34 cervicitis 9.6
35 palmoplantar keratosis 9.6
36 angiokeratoma 9.6
37 neuronitis 9.6
38 aneurysm 9.6
39 lymphangioma 9.4 FLT4 PDPN VEGFC
40 lymphatic system disease 9.4 FLT4 FOXC2 VEGFC
41 lymphangioleiomyomatosis 9.2 VEGFC VEGFD
42 breast ductal carcinoma 8.9 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:

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

Drugs & Therapeutics for Congenital Lymphedema

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
2 Serotonin Agents Phase 3
3 Serotonin Uptake Inhibitors Phase 3
4 Neurotransmitter Agents Phase 3,Phase 2
5 Neurotransmitter Uptake Inhibitors Phase 3
6 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
7 Cytochrome P-450 Enzyme Inhibitors Phase 3
8 Antidepressive Agents Phase 3
9 Antidepressive Agents, Second-Generation Phase 3
10 Psychotropic Drugs Phase 3
11
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
12
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
13
Propranolol Approved, Investigational Phase 2 525-66-6 4946
14 interferons Phase 2
15 Adjuvants, Immunologic Phase 2
16 Adrenergic Agents Phase 2
17 Adrenergic Antagonists Phase 2
18 Adrenergic beta-Antagonists Phase 2
19 Anti-Arrhythmia Agents Phase 2
20 Vasodilator Agents Phase 2
21 Antihypertensive Agents Phase 2
22 Interferon Inducers Phase 2
23 Complement System Proteins

Interventional clinical trials:

(show all 14)
# 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 Propranolol Dose Escalation in Lymphedema in Patients Recruiting NCT02595996 Phase 2 Propranolol
3 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
4 Out-of Pocket Payments in Patients With Lymphedema Unknown status NCT02988479
5 Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment Unknown status NCT01273909
6 Validation of a New Method of Limb Volumetry Unknown status NCT01574911
7 Physical Therapies in the Decongestive Treatment of Lymphedema Completed NCT01748604 Not Applicable
8 Out-of Pocket Payments With Lymphedema in France Recruiting NCT02988505
9 Validation of Metrological Properties of Lymphoqol Recruiting NCT01922635 Not Applicable
10 Histologic Analysis of the Lymphatic Vessels Used for Supermicrosurgical Lymphatico-venous Anastomoses in Lymphedema Recruiting NCT03465930
11 A Pilot Study to Evaluate the Feasibility and Potential Effectiveness of the Flexitouch System Head and Neck Treatment Recruiting NCT03332160 Not Applicable
12 Quality of Life Changes on Lower Extremity Lymphedema Patients Using an Advanced PCD Recruiting NCT02661646
13 Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders Enrolling by invitation NCT00833599 NIRFLI with ICG
14 Oedema Study : Chroedem Not yet recruiting NCT02914808

Search NIH Clinical Center for Congenital Lymphedema

Genetic Tests for Congenital Lymphedema

Anatomical Context for Congenital Lymphedema

MalaCards organs/tissues related to Congenital Lymphedema:

41
Breast, Heart, Lymph Node

Publications for Congenital Lymphedema

Articles related to Congenital Lymphedema:

(show all 35)
# 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
Near-Infrared Fluorescence Lymphatic Imaging of a Toddler With Congenital Lymphedema. ( 28356336 )
2017
4
An unusual case of Corynebacterium striatum endocarditis in a patient with congenital lymphedema and rheumatic heart disease. ( 27751312 )
2016
5
Milroy Disease or Primary Congenital Lymphedema Associated With Invasive Squamous Cell Carcinoma. ( 27374380 )
2016
6
Complex decongestive physical therapy and low-level laser therapy for the treatment of pediatric congenital lymphedema: a case report. ( 26180372 )
2015
7
Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11. ( 25764055 )
2015
8
Vascularized lymph node flap transfer and lymphovenous anastomosis for klippel-trenaunay syndrome with congenital lymphedema. ( 25289360 )
2014
9
Adaptations in the treatment of congenital lymphedema centered on the quality of life. ( 24715912 )
2014
10
Congenital Lymphedema Complicated by Pain and Psychological Distress: Case Report. ( 23615316 )
2013
11
Squamous cell carcinoma arising from congenital lymphedema. ( 27489627 )
2013
12
Primary congenital lymphedema complicated by hydrops fetalis: a case report and review of the literature. ( 23533860 )
2013
13
Cutaneous epithelioid clear cells angiosarcoma in a young woman with congenital lymphedema. ( 24078891 )
2013
14
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. ( 22284827 )
2012
15
The godoy & godoy cervical stimulation technique in the treatment of primary congenital lymphedema. ( 25396036 )
2012
16
Surgical treatment of congenital lymphedema. ( 23036288 )
2012
17
Congenital lymphedema: another unique and gender specific stigmata of tuberous sclerosis? ( 23144114 )
2012
18
Prenatal diagnosis of Milroy's primary congenital lymphedema. ( 22795109 )
2012
19
Endovascular Repair of an Infected Ruptured Isolated Iliac Artery Aneurysm Combined With Congenital Lymphedema: Report of a Case. ( 22549906 )
2012
20
Congenital lymphedema with tuberous sclerosis and clinical Hirschsprung disease. ( 20738790 )
2011
21
The role of lymphoscintigraphy in diagnosis and monitor the response of physiotherapeutic technique in congenital lymphedema. ( 21368595 )
2011
22
Home-made compression stockings and shoes of a cotton-polyester material in the treatment of primary congenital lymphedema. ( 20882431 )
2010
23
Re: "conjunctival edema and distichiasis in association with congenital lymphedema of the lower legs". ( 20489560 )
2010
24
Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? ( 20583147 )
2010
25
Milroy's primary congenital lymphedema in a male infant and review of the literature. ( 20555004 )
2010
26
Surgical treatment of elephantiasis of the feet in congenital lymphedema to facilitate the use of a compression mechanism. ( 20463829 )
2010
27
Conjunctival edema and distichiasis in association with congenital lymphedema of the lower legs. ( 19300167 )
2009
28
Hereditary palmoplantar keratoderma associated with primary (congenital) lymphedema. ( 19725273 )
2009
29
Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment. ( 18496391 )
2008
30
Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema. ( 16231305 )
2005
31
Mapping of primary congenital lymphedema to the 5q35.3 region. ( 9973292 )
1999
32
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. ( 7682675 )
1993
33
Chylous ascites with pericardial and pleural effusions in congenital lymphedema. ( 1918861 )
1991
34
Lymphangiosarcoma arising in congenital lymphedema. ( 1119828 )
1975
35
Lymphangiosarcoma and congenital lymphedema of the extremity. ( 4414532 )
1974

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 KIF11 PDPN VEGFC VEGFD
2 12.43 FLT4 VEGFC VEGFD
3 12.35 FLT4 VEGFC VEGFD
4
Show member pathways
12.31 FLT4 VEGFC VEGFD
5
Show member pathways
12.25 FLT4 VEGFC VEGFD
6
Show member pathways
11.87 FLT4 VEGFC VEGFD
7
Show member pathways
11.81 FLT4 VEGFC VEGFD
8
Show member pathways
11.62 FLT4 VEGFC VEGFD
9 11.54 VEGFC VEGFD
10
Show member pathways
11.49 FLT4 VEGFC
11 11.28 FLT4 PDPN VEGFC
12 11.14 VEGFC VEGFD
13 11.03 FOXC2 VEGFC
14 10.49 FLT4 VEGFC VEGFD
15
Show member pathways
10 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 13)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.81 FLT4 FOXC2 VEGFC VEGFD
2 multicellular organism development GO:0007275 9.77 FLT4 FOXC2 PDPN VEGFC VEGFD
3 positive regulation of cell proliferation GO:0008284 9.7 FLT4 VEGFC VEGFD
4 angiogenesis GO:0001525 9.61 FLT4 VEGFC VEGFD
5 positive regulation of endothelial cell migration GO:0010595 9.49 FLT4 FOXC2
6 positive regulation of cell division GO:0051781 9.48 VEGFC VEGFD
7 positive chemotaxis GO:0050918 9.46 VEGFC VEGFD
8 induction of positive chemotaxis GO:0050930 9.4 VEGFC VEGFD
9 positive regulation of endothelial cell proliferation GO:0001938 9.33 FLT4 VEGFC VEGFD
10 lymph vessel development GO:0001945 9.32 FLT4 FOXC2
11 positive regulation of mast cell chemotaxis GO:0060754 9.26 VEGFC VEGFD
12 lymphangiogenesis GO:0001946 9.13 FLT4 FOXC2 PDPN
13 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 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
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