MCID: HRD007
MIFTS: 39

Hereditary Lymphedema

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

Aliases & Classifications for Hereditary Lymphedema

MalaCards integrated aliases for Hereditary Lymphedema:

Name: Hereditary Lymphedema 12 14
Nonne-Milroy Lymphedema 12
Milroy's Disease 12
Milroy Disease 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0050580
ICD9CM 34 757.0

Summaries for Hereditary Lymphedema

Disease Ontology : 12 A lymphedema commonly located in legs, caused_by congenital abnormalities in the lymphatic system.

MalaCards based summary : Hereditary Lymphedema, also known as nonne-milroy lymphedema, is related to lymphedema, hereditary, ii and lymphedema-distichiasis syndrome. An important gene associated with Hereditary Lymphedema is FLT4 (Fms Related Tyrosine Kinase 4), and among its related pathways/superpathways is Heart Development. The drugs Paroxetine and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include legs and breast, and related phenotype is digestive/alimentary.

Related Diseases for Hereditary 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 Hereditary Lymphedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 lymphedema, hereditary, ii 31.9 FOXC1 FOXC2 GJC2
2 lymphedema-distichiasis syndrome 31.5 FOXC2 FOXL1
3 lymphedema 29.8 FLT4 FOXC2 GJC2 HNRNPH1
4 lymphangiosarcoma 29.7 FLT4 GJC2
5 distichiasis 29.0 FOXC1 FOXC2 FOXL1
6 lymphedema, hereditary, ia 11.7
7 lymphedema, hereditary, ic 10.9
8 lymphedema, hereditary, iii 10.9
9 yellow nail syndrome 10.9
10 lymphedema, hereditary, id 10.9
11 chylothorax, congenital 10.0 FLT4 FOXC2
12 cellulitis 9.9 FLT4 GJC2
13 klippel-trenaunay-weber syndrome 9.9 FLT4 FOXC2
14 venous malformations, multiple cutaneous and mucosal 9.8 FLT4 FOXC2
15 congenital lymphedema 9.8 FLT4 FOXC2 HNRNPH1
16 angioedema, hereditary, type i 9.7
17 aging 9.7
18 hydrops, lactic acidosis, and sideroblastic anemia 9.7
19 hydrops fetalis, nonimmune, and/or atrial septal defect 9.7
20 diabetes mellitus 9.7
21 cholestasis 9.7
22 obstructive jaundice 9.7
23 elephantiasis 9.7
24 hemangioendothelioma 9.7
25 hydrops fetalis 9.7
26 kaposiform hemangioendothelioma 9.7
27 lymphatic system disease 9.7 FLT4 FOXC2 GJC2
28 cranio-facial dystonia 9.5 FOXC1 FOXC2 GJC2
29 hypoplastic left heart syndrome 9.4 FOXC2 FOXL1

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



Diseases related to Hereditary Lymphedema

Symptoms & Phenotypes for Hereditary Lymphedema

MGI Mouse Phenotypes related to Hereditary Lymphedema:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 FLT4 FOXC1 FOXC2 FOXL1

Drugs & Therapeutics for Hereditary Lymphedema

Drugs for Hereditary 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
Metronidazole Approved Phase 3 443-48-1 4173
3
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
4
Terconazole Approved Phase 3 67915-31-5 441383
5
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
6 Antidepressive Agents Phase 3
7 Antidepressive Agents, Second-Generation Phase 3
8 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
9 Cytochrome P-450 Enzyme Inhibitors Phase 3
10 Neurotransmitter Agents Phase 3,Phase 2
11 Neurotransmitter Uptake Inhibitors Phase 3
12 Psychotropic Drugs Phase 3
13
Serotonin Phase 3 50-67-9 5202
14 Serotonin Agents Phase 3
15 Serotonin Uptake Inhibitors Phase 3
16 Antifungal Agents Phase 3
17 Anti-Infective Agents Phase 3
18 Antiparasitic Agents Phase 3
19 Antiprotozoal Agents Phase 3
20 Contraceptive Agents Phase 3
21 Citrate Nutraceutical Phase 3
22
Propranolol Approved, Investigational Phase 2 525-66-6 4946
23
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
24 Adrenergic Agents Phase 2
25 Adrenergic Antagonists Phase 2
26 Adrenergic beta-Antagonists Phase 2
27 Anti-Arrhythmia Agents Phase 2
28 Antihypertensive Agents Phase 2
29 Vasodilator Agents Phase 2
30 Adjuvants, Immunologic Phase 2
31 Interferon Inducers Phase 2
32 interferons Phase 2
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 Multi-Center Study of New Medications to Treat Vaginal Infections Recruiting NCT02308007 Phase 3 Terconazole;Metronidazole;Terconazole/metronidazole
3 AMP002 Phase III Contraceptive Study Recruiting NCT03243305 Phase 3 AMPHORA
4 Propranolol Dose Escalation in Lymphedema in Patients Recruiting NCT02595996 Phase 2 Propranolol
5 VGX-3100 Followed by Electroporation Alone or in Combination With Imiquimod for the Treatment of Human Papilloma Virus HPV-16 and/or HPV-18 Related Vulvar High Grade Squamous Intraepithelial Lesion (HSIL) (Also Referred as: VIN, VIN 2 or VIN 3, Vulvar Dys Recruiting NCT03180684 Phase 2 Imiquimod 5% cream
6 Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders Unknown status NCT00833599 NIRFLI with ICG
7 Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment Unknown status NCT01273909
8 Validation of a New Method of Limb Volumetry Unknown status NCT01574911
9 Physical Therapies in the Decongestive Treatment of Lymphedema Completed NCT01748604
10 Out-of Pocket Payments in Patients With Lymphedema Recruiting NCT02988479
11 Out-of Pocket Payments With Lymphedema in France Recruiting NCT02988505
12 Validation of Metrological Properties of Lymphoqol Recruiting NCT01922635
13 A Pilot Study to Evaluate the Feasibility and Potential Effectiveness of the Flexitouch System Head and Neck Treatment Recruiting NCT03332160
14 Quality of Life Changes on Lower Extremity Lymphedema Patients Using an Advanced PCD Recruiting NCT02661646
15 Oedema Study : Chroedem Not yet recruiting NCT02914808

Search NIH Clinical Center for Hereditary Lymphedema

Genetic Tests for Hereditary Lymphedema

Anatomical Context for Hereditary Lymphedema

The Foundational Model of Anatomy Ontology organs/tissues related to Hereditary Lymphedema:

18
Legs

MalaCards organs/tissues related to Hereditary Lymphedema:

38
Breast

Publications for Hereditary Lymphedema

Articles related to Hereditary Lymphedema:

(show all 35)
# Title Authors Year
1
Hereditary Lymphedema of the Leg - A Case Report. ( 28785330 )
2017
2
A novel mutation in CELSR1 is associated with hereditary lymphedema. ( 26855770 )
2016
3
A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema. ( 26091405 )
2015
4
Antenatal presentation of hereditary lymphedema type I. ( 25896638 )
2015
5
Hereditary Lymphedema, Characteristics, and Variations in 17 Adult Patients with Lymphedema Cholestasis Syndrome 1/Aagenaes Syndrome. ( 25317502 )
2014
6
Excision of Elephantiasis Nostras Verrucosa Lesions in a Patient With Hereditary Lymphedema: Case Report and Review of the Literature. ( 25441846 )
2014
7
Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression. ( 21918810 )
2012
8
Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I. ( 17945164 )
2007
9
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. ( 16924388 )
2006
10
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. ( 16965327 )
2006
11
Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation. ( 15904433 )
2005
12
The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis. ( 16081467 )
2005
13
A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. ( 15523639 )
2004
14
Stewart-Treves syndrome as a rare complication of a hereditary lymphedema. ( 15061047 )
2004
15
Kaposiform hemangioendothelioma associated with Milroy's disease (primary hereditary lymphedema). ( 12861592 )
2003
16
Syndromic classification of hereditary lymphedema. ( 14992570 )
2003
17
Age of onset in hereditary lymphedema. ( 12838201 )
2003
18
A model for gene therapy of human hereditary lymphedema. ( 11592985 )
2001
19
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. ( 11078474 )
2000
20
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. ( 10856194 )
2000
21
Lymphangiosarcoma of the pubic region: a rare complication arising in congenital non-hereditary lymphedema. ( 9854166 )
1998
22
Hereditary lymphedema: evidence for linkage and genetic heterogeneity. ( 9817924 )
1998
23
Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. ( 7747790 )
1995
24
Hereditary lymphedema and distichiasis. ( 2064580 )
1991
25
Hereditary lymphedema in Hereford cattle. ( 2039787 )
1991
26
Congenital hereditary lymphedema (Nonne/Milroy). ( 2616174 )
1989
27
The pathogenesis of congenital hereditary lymphedema in the pig. ( 642583 )
1978
28
Congenital hereditary lymphedema in the pig. ( 642582 )
1978
29
Scintilymphangiography with 99 mTc-antimony sulfide colloid in hereditary lymphedema (Nonne-Milroy diseases). ( 709985 )
1978
30
Chronic hereditary lymphedema of the legs with congenital conjunctival lymphedema. ( 5020171 )
1972
31
Hereditary lymphedema and obstructive jaundice. ( 5544157 )
1971
32
PLEURAL EFFUSION IN CHRONIC HEREDITARY LYMPHEDEMA (NONNE, MILROY, MEIGE'S DISEASE). REPORT OF TWO CASES. ( 14115303 )
1964
33
Genetic and physiological aspects of a family with chronic hereditary lymphedema (Nonne-Milroy-Meige's disease) and hereditary angioneurotic edema. ( 13533392 )
1958
34
Prednisone in the management of idiopathic hereditary lymphedema (Milroy's disease). ( 13345610 )
1956
35
Chronic hereditary lymphedema (Nonne-Milroy-Meige's Disease). ( 15418956 )
1950

Variations for Hereditary Lymphedema

Expression for Hereditary Lymphedema

Search GEO for disease gene expression data for Hereditary Lymphedema.

Pathways for Hereditary Lymphedema

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

# Super pathways Score Top Affiliating Genes
1 10.29 FOXC1 FOXC2

GO Terms for Hereditary Lymphedema

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.71 FOXC1 FOXC2 FOXL1
2 Notch signaling pathway GO:0007219 9.62 FOXC1 FOXC2
3 kidney development GO:0001822 9.62 FOXC1 FOXC2
4 ossification GO:0001503 9.61 FOXC1 FOXC2
5 camera-type eye development GO:0043010 9.61 FOXC1 FOXC2
6 blood vessel development GO:0001568 9.6 FOXC1 FOXC2
7 somitogenesis GO:0001756 9.59 FOXC1 FOXC2
8 heart morphogenesis GO:0003007 9.58 FOXC1 FOXC2
9 positive regulation of endothelial cell migration GO:0010595 9.58 FLT4 FOXC2
10 ureteric bud development GO:0001657 9.57 FOXC1 FOXC2
11 collagen fibril organization GO:0030199 9.56 FOXC1 FOXC2
12 blood vessel remodeling GO:0001974 9.55 FOXC1 FOXC2
13 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.52 FOXC1 FOXC2
14 artery morphogenesis GO:0048844 9.51 FOXC1 FOXC2
15 neural crest cell development GO:0014032 9.49 FOXC1 FOXC2
16 embryonic heart tube development GO:0035050 9.48 FOXC1 FOXC2
17 regulation of blood vessel size GO:0050880 9.46 FOXC1 FOXC2
18 cardiac muscle cell proliferation GO:0060038 9.43 FOXC1 FOXC2
19 lymphangiogenesis GO:0001946 9.4 FLT4 FOXC2
20 regulation of organ growth GO:0046620 9.37 FOXC1 FOXC2
21 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.33 FLT4 FOXC1 FOXC2
22 vascular endothelial growth factor signaling pathway GO:0038084 9.32 FLT4 FOXC1
23 paraxial mesoderm formation GO:0048341 9.26 FOXC1 FOXC2
24 negative regulation of apoptotic process involved in outflow tract morphogenesis GO:1902257 8.96 FOXC1 FOXC2
25 lymph vessel development GO:0001945 8.8 FLT4 FOXC1 FOXC2

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.43 FOXC1 FOXC2 FOXL1
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.16 FOXC1 FOXC2
3 promoter-specific chromatin binding GO:1990841 8.96 FOXC1 FOXC2
4 DNA binding, bending GO:0008301 8.62 FOXC1 FOXL1

Sources for Hereditary Lymphedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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