MCID: CNG439
MIFTS: 32

Congenital Lymphedema

Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Congenital Lymphedema

MalaCards integrated aliases for Congenital Lymphedema:

Name: Congenital Lymphedema 52 54
Milroy Disease 71

Classifications:



External Ids:

UMLS 71 C1704423

Summaries for Congenital Lymphedema

MalaCards based summary : Congenital Lymphedema, also known as milroy disease, is related to lymphatic malformation 1 and lymphangiosarcoma. An important gene associated with Congenital Lymphedema is FLT4 (Fms Related Receptor Tyrosine Kinase 4), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Pathways in cancer. Affiliated tissues include breast, skin and endothelial, and related phenotypes are immune 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
Primary Lymphedema Celsr1-Related Late-Onset Primary Lymphedema
Gjc2-Related Late-Onset Primary Lymphedema

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 1 32.7 VEGFC FLT4
2 lymphangiosarcoma 30.3 PDPN FLT4
3 lymphedema 30.3 VEGFC KIF11 FOXC2 FLT4
4 angiosarcoma 30.2 PDPN FLT4
5 klippel-trenaunay-weber syndrome 29.6 FOXC2 FLT4
6 hennekam syndrome 29.3 VEGFC FOXC2 FLT4
7 lymphangioma 29.3 VEGFC PDPN FLT4
8 hereditary lymphedema 29.2 VEGFC HNRNPH1 FOXC2 FLT4
9 primary lymphedema 29.0 VEGFD VEGFC FOXC2 FLT4
10 lymphangitis 28.2 VEGFD VEGFC PDPN FLT4
11 agenesis of the corpus callosum and congenital lymphedema 12.3
12 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.7
13 lymphedema-hypoparathyroidism syndrome 11.6
14 hennekam lymphangiectasia-lymphedema syndrome 1 11.1
15 hydrops, lactic acidosis, and sideroblastic anemia 10.1
16 lymphangiectasis 10.1
17 distichiasis 10.1
18 microcephaly 10.1
19 tuberous sclerosis 10.1
20 orbital lymphangioma 10.1 PDPN FLT4
21 hereditary lymphedema ia 10.1 PDPN FLT4
22 hobnail hemangioma 10.1 PDPN FLT4
23 hereditary lymphedema ii 10.0 FOXC2 FLT4
24 capillary lymphangioma 10.0 PDPN FLT4
25 hereditary lymphedema ic 10.0 PDPN FLT4
26 capillary hemangioma 10.0 PDPN FLT4
27 microcephaly, autosomal dominant 9.9
28 hydrops fetalis, nonimmune 9.9
29 erysipelas 9.9
30 squamous cell carcinoma 9.9
31 elephantiasis 9.9
32 mucinous cystadenocarcinoma of the pancreas 9.9 VEGFC PDPN
33 cardiovascular cancer 9.9 PDPN FLT4
34 cystadenocarcinoma 9.9 VEGFC PDPN
35 vascular cancer 9.9 PDPN FLT4
36 auricular cancer 9.9 VEGFC PDPN
37 cardiovascular organ benign neoplasm 9.9 PDPN FLT4
38 coarctation of aorta 9.8
39 hirschsprung disease 1 9.8
40 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8
41 kaposi sarcoma 9.8
42 lymphedema-distichiasis syndrome 9.8
43 ascites, chylous 9.8
44 lissencephaly 2 9.8
45 opitz-kaveggia syndrome 9.8
46 branchiootic syndrome 1 9.8
47 hypertrophic scars 9.8
48 walker-warburg syndrome 9.8
49 nonsyndromic deafness 9.8
50 rheumatic heart disease 9.8

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.43 FLT4 FOXC2 HNRNPH1 PDPN VEGFC VEGFD
2 mortality/aging MP:0010768 9.17 FLT4 FOXC2 HNRNPH1 KIF11 PDPN VEGFC

Drugs & Therapeutics for Congenital Lymphedema

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment Unknown status NCT01273909

Search NIH Clinical Center for Congenital Lymphedema

Genetic Tests for Congenital Lymphedema

Anatomical Context for Congenital Lymphedema

MalaCards organs/tissues related to Congenital Lymphedema:

40
Breast, Skin, Endothelial, Lymph Node, Bone, Brain, Spinal Cord

Publications for Congenital Lymphedema

Articles related to Congenital Lymphedema:

(show top 50) (show all 254)
# Title Authors PMID Year
1
Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas. 54 61
19002718 2009
2
A novel VEGFR3 mutation causes Milroy disease. 54 61
17458866 2007
3
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. 54 61
16965327 2006
4
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. 54 61
16924388 2006
5
Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation. 54 61
15904433 2005
6
Up-regulation of the lymphatic marker podoplanin, a mucin-type transmembrane glycoprotein, in human squamous cell carcinomas and germ cell tumors. 54 61
15743802 2005
7
Milroy disease and the VEGFR-3 mutation phenotype. 54 61
15689446 2005
8
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. 54 61
12740761 2003
9
Surgical treatment of Milroy disease. 61
31165487 2020
10
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. 61
31633297 2020
11
Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome. 61
31721633 2019
12
Congenital lymphangioma circumscriptum of the vulva. 61
31364200 2019
13
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot. 61
30582441 2019
14
A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR. 61
30733662 2019
15
Immunohistochemical Evaluation of Histological Change in a Chinese Milroy Disease Family With Venous and Skin Abnormities. 61
30941160 2019
16
Mechanically activated ion channel PIEZO1 is required for lymphatic valve formation. 61
30482854 2018
17
Angiosarcoma arising from congenital primary lymphedema. 61
30216524 2018
18
Unilateral Primary Congenital Lymphedema of the Upper Limb in an 11-Month-Old Infant: A Clinical and Pharmacological Perspective. 61
30337988 2018
19
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon. 61
30071673 2018
20
A novel mutation in the conserved sequence of vascular endothelial growth factor receptor 3 leads to primary lymphoedema. 61
29896974 2018
21
From fish embryos to human patients: lymphangiogenesis in development and disease. 61
29800868 2018
22
Warty Fingers and Toes in a Child With Congenital Lymphedema: Elephantiasis Nostras Verrucosa. 61
29710245 2018
23
Primary Congenital Lymphedema. 61
29762243 2018
24
Congenital lymphangioma circumscriptum of vulva presenting as multiple giant mass lesions: a case report and literature review. 61
29484773 2018
25
Unusual Cause of Gastrointestinal Bleeding in a Patient with Turner Syndrome. 61
30022918 2018
26
Herpetic ocular manifestations in a patient with GATA2 deficiency. 61
29942189 2018
27
[Lymphedema complicated with verrucous papillomatosis]. 61
31448007 2018
28
Modified enteromesenteric bridging operation for primary lymphedema. 61
30337509 2018
29
Near-Infrared Fluorescence Lymphatic Imaging of a Toddler With Congenital Lymphedema. 61
28356336 2017
30
[Primary lymphedema due to Milroy disease]. 61
26818397 2017
31
Atypical retiform hemangioendothelioma arising in a patient with Milroy disease: a case report and review of the literature. 61
27730656 2017
32
[Primary congenital lymphedema: Milroy disease: the first case observed in the Department of Pediatrics at the University Hospital Yalgado Ouedraogo, Ouagadougou]. 61
28748022 2017
33
Cervical Stimulation in the Treatment of Children with Lymphedema of All Four Extremities: A Case Report and Literature Review. 61
28337356 2017
34
Penile Reconstruction with Skin Grafts and Dermal Matrices: Indications and Management. 61
28868232 2017
35
Milroy Disease or Primary Congenital Lymphedema Associated With Invasive Squamous Cell Carcinoma. 61
27374380 2016
36
Rare Variants in LAMA5 Gene associated with FLT4 and FOXC2 Mutations in Primary Lymphedema May Contribute to Severity. 61
29908552 2016
37
An unusual case of Corynebacterium striatum endocarditis in a patient with congenital lymphedema and rheumatic heart disease. 61
27751312 2016
38
"You're naked, you're vulnerable": Sexual well-being and body image of women with lower limb lymphedema. 61
27434105 2016
39
Autologous Lymph Node Transfers. 61
26372688 2016
40
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. 61
26275891 2015
41
Island nail flap in the treatment of foot macrodactyly of the first ray in children: report of two cases. 61
26238609 2015
42
Congenital focal lymphedema as a diagnostic clue to tuberous sclerosis complex: report of two cases diagnosed by ultrasound. 61
25616615 2015
43
Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11. 61
25764055 2015
44
Antenatal presentation of hereditary lymphedema type I. 61
25896638 2015
45
A NOVEL FLT4 GENE MUTATION AND MR LYMPHANGIOGRAPHY IN A CHINESE FAMILY WITH MILROY DISEASE. 61
26714373 2015
46
A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema. 61
26091405 2015
47
Complex decongestive physical therapy and low-level laser therapy for the treatment of pediatric congenital lymphedema: a case report. 61
26180372 2015
48
Stewart-Treves Syndrome of the Lower Extremity. 61
26312726 2015
49
Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. 61
25619630 2015
50
Distant metastases in a young woman with Stewart-Treves syndrome demonstrated by an FDG-PET/CT scan. 61
24561687 2014

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 VEGFD VEGFC PDPN KIF11
2 12.45 VEGFD VEGFC FLT4
3 12.35 VEGFD VEGFC FLT4
4
Show member pathways
12.32 VEGFD VEGFC FLT4
5
Show member pathways
12.25 VEGFD VEGFC FLT4
6
Show member pathways
12 VEGFD VEGFC FLT4
7
Show member pathways
11.87 VEGFD VEGFC FLT4
8
Show member pathways
11.81 VEGFD VEGFC FLT4
9
Show member pathways
11.79 VEGFD VEGFC FLT4
10
Show member pathways
11.5 VEGFC FLT4
11 11.28 VEGFC PDPN FLT4
12 11.17 VEGFD VEGFC
13 11.03 VEGFC FOXC2
14 10.49 VEGFD VEGFC FLT4
15
Show member pathways
10 VEGFD VEGFC FLT4

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 VEGFD VEGFC

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.84 VEGFD VEGFC PDPN FOXC2
2 angiogenesis GO:0001525 9.65 VEGFD VEGFC FLT4
3 positive regulation of protein phosphorylation GO:0001934 9.63 VEGFD VEGFC FLT4
4 positive regulation of endothelial cell migration GO:0010595 9.52 FOXC2 FLT4
5 positive chemotaxis GO:0050918 9.51 VEGFD VEGFC
6 positive regulation of endothelial cell proliferation GO:0001938 9.5 VEGFD VEGFC FLT4
7 positive regulation of cell division GO:0051781 9.49 VEGFD VEGFC
8 induction of positive chemotaxis GO:0050930 9.43 VEGFD VEGFC
9 sprouting angiogenesis GO:0002040 9.43 VEGFD VEGFC FLT4
10 lymph vessel development GO:0001945 9.4 FOXC2 FLT4
11 positive regulation of mast cell chemotaxis GO:0060754 9.37 VEGFD VEGFC
12 vascular endothelial growth factor signaling pathway GO:0038084 9.33 VEGFD VEGFC FLT4
13 lymphangiogenesis GO:0001946 9.13 PDPN FOXC2 FLT4
14 vascular endothelial growth factor receptor signaling pathway GO:0048010 8.92 VEGFD VEGFC FOXC2 FLT4

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

# Name GO ID Score Top Affiliating Genes
1 chemoattractant activity GO:0042056 9.16 VEGFD VEGFC
2 vascular endothelial growth factor receptor binding GO:0005172 8.96 VEGFD VEGFC
3 vascular endothelial growth factor receptor 3 binding GO:0043185 8.62 VEGFD VEGFC

Sources for Congenital Lymphedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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