MCID: HRD007
MIFTS: 31

Hereditary Lymphedema malady

Genetic diseases, Immune diseases, Rare diseases categories

Aliases & Classifications for Hereditary Lymphedema

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Aliases & Descriptions for Hereditary Lymphedema:

Name: Hereditary Lymphedema 10 12
Nonne-Milroy Lymphedema 10
 
Milroy's Disease 10
Milroy Disease 65


Classifications:



External Ids:

Disease Ontology10 DOID:0050580
ICD9CM29 757.0

Summaries for Hereditary Lymphedema

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Disease Ontology:10 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 and mongolian spot. An important gene associated with Hereditary Lymphedema is FLT4 (Fms-Related Tyrosine Kinase 4), and among its related pathways is Heart Development. Affiliated tissues include legs, and related mouse phenotypes are digestive/alimentary and normal.

Related Diseases for Hereditary Lymphedema

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



Diseases related to hereditary lymphedema

Symptoms for Hereditary Lymphedema

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Drugs & Therapeutics for Hereditary Lymphedema

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Paroxetineapproved, investigationalPhase 321761869-08-743815
Synonyms:
(-)-(3S,4R)-4-(P-Fluorophenyl)-3-((3,4-(methylenedioxy)phenoxy)methyl)piperidine
(-)-(3S,4R)-4-(p-Fluorophenyl)-3-((3,4-(methylenedioxy)phenoxy)methyl)piperidine
(-)-(3S,4R)-4-(p-Fluorophenyl)-3-((3,4-methylenedioxy)phenoxy)methyl)piperidine
(-)-Paroxetine
(-)-trans-4-(4-Fluorophenyl)-3-(3,4-methylenedioxyphenoxymethyl)piperidine
(-)-trans-4-(p-fluorophenyl)-3-[[3,4-(methylenedioxy)phenoxy]methyl]-piperidine
(3S,4R)-3-(1,3-benzodioxol-5-yloxymethyl)-4-(4-fluorophenyl)piperidine
(3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidine
(3S-trans)-3-((1,3-Benzodioxol-5-yloxy)methyl)-4-(4-fluorophenyl)piperidine
(3S-trans)-3-((1,3-benzodioxol-5-yloxy)methyl)-4-(4-fluorophenyl)piperidine
(3S-trans)-3-[(1,3-Benzodioxol-5-yl-oxy)methyl]-4-(4-fluorophenyl)piperidine
110429-35-1
3-(Benzo[1,3]Dioxol-5-Yl-Oxymethyl)-4-(4-Fluoro-Phenyl)-Piperidine Hydrochloride
61869-08-7
63952-24-9
64006-44-6 (maleate)
78246-49-8 (hydrochloride)
AB00514724
AC1L2AKL
AC1Q1H18
AC1Q4LV6
Aropax
BIDD:GT0673
BPBio1_000949
BRD-K37991163-003-02-7
BRL 29060
BRL-29060
BSPBio_000861
Brisdelle
C07415
C19H20FNO3
CHEBI:7936
CHEMBL490
CID43815
Casbol
D02362
DB00715
DivK1c_006884
FG 7051
FG-7051
FT-0085087
Frosinor
 
HMS2090H05
I14-7752
KBio1_001828
KBio2_002232
KBio2_004800
KBio2_007368
KBioSS_002232
LS-114249
MolPort-003-849-791
Motivan
NCGC00025355-02
NCGC00025355-03
NCGC00025355-04
NCGC00025355-05
NCGC00025355-06
NCGC00025355-07
NCGC00025355-08
NNC-20-7051
Paroxetina
Paroxetina [INN-Spanish]
Paroxetine
Paroxetine (TN)
Paroxetine (USP/INN)
Paroxetine Hcl
Paroxetine Hydrochloride
Paroxetine Mesylate
Paroxetine [USAN:INN:BAN]
Paroxetinum
Paroxetinum [INN-Latin]
PaxPar
Paxetil
Paxil
Paxil CR
Pexeva
Prestwick3_000851
Seroxat
Seroxat CR
SpecPlus_000788
Spectrum5_001665
Spectrum_001752
TL8003967
UNII-41VRH5220H
[3H]Paroxetine
paroxetine
2
SerotoninPhase 3285350-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
3
Propranololapproved, investigational194525-66-64946
Synonyms:
(+-)-Propranolol
(1)-1-(Isopropylamino)-3-(naphthyloxy)propan-2-ol
(R)-(+)-propranolol
(S)-(-)-PROPRANOLOL
1-((1-Methylethyl)amino)-3-(1-naphthalenyloxy)-2-propanol
1-(1-Naphthyloxy)-2-hydroxy-3-(isopropylamino)propane
1-(Isopropylamino)-3-(1-naphthoxy)-propan-2-ol
1-(Isopropylamino)-3-(1-naphthyloxy)-2-propanol
1-(isopropylamino)-3-(1-naphthyloxy)propan-2-ol
1-(naphthalen-1-yloxy)-3-(propan-2-ylamino)propan-2-ol
1-Isopropylamino-3-(1-naphthyloxy)-2-propanol
1-[(1-methylethyl)amino]-3-(naphthalen-1-yloxy)propan-2-ol
1-naphthalen-1-yloxy-3-(propan-2-ylamino)propan-2-ol
13013-17-7
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)- (9CI)
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)-, (+-)- (9CI)
3-(naphthalen-1-yloxy)-1-(propan-2-ylamino)propan-2-ol
4199-09-1
4199-10-4
525-66-6
AB00053537
AC1L1JA4
AC1Q1QBV
AC1Q1QC0
AKOS000588816
AY 64043
AY-20694
Anaprilin
Anapriline
Angilol
Apsolol
Avlocardyl
BPBio1_001040
BRD-A10070317-003-06-9
BSPBio_000944
BSPBio_002682
Bedranol
Beprane
Berkolol
Beta Neg
Beta-Neg
Beta-Propranolol
Beta-Tablinen
Beta-Timelets
Betachron
Betadren
Betalong
Bio-0732
Bio1_000367
Bio1_000856
Bio1_001345
C07407
C16H21NO2
CBDivE_006180
CCRIS 3082
CHEBI:8499
CHEMBL27
CID4946
Cardinol
Caridolol
Corpendol
D,L-Propranolol
D08443
DB00571
DL-Propranolol hydrochloride
Deralin
DivK1c_000023
Dl-Propranolol Hydrochloride
Dociton
Duranol
EINECS 208-378-0
EINECS 235-867-6
Efektolol
Elbrol
Etalong
Euprovasin
Frekven
HMS2090L21
Hemangeol
Herzbase
ICI 45520
IDI1_000023
INDERIDE-40/25
INDERIDE-80/25
Ikopal
Inderal
Inderal LA
Inderal La
Inderal hydrochloride
Inderalici
Inderex
Inderide
Inderol
Indobloc
 
Innopran XL
Innopran Xl
Intermigran
KBio1_000023
KBio2_002515
KBio2_005083
KBio2_007651
KBio3_001766
KBio3_001902
KBio3_002993
KBioGR_001347
KBioGR_001684
KBioGR_002515
KBioSS_002523
Kemi
Kemi S
L000679
LS-122410
LS-184129
Lopac0_000896
Migrastat
MolPort-001-794-623
NCGC00015798-07
NCGC00024690-02
NCGC00024690-03
NINDS_000023
NSC91523
Naprilin
Obsidan
Obzidan
Oposim
Oprea1_304193
PDSP1_000767
PDSP1_001607
PDSP1_001608
PDSP2_000755
PDSP2_001591
PDSP2_001592
Prano-Puren
Pranolol
Prestwick0_000952
Prestwick1_000952
Prestwick2_000952
Prestwick3_000952
Pronovan
Propanalol
Propanix
Propanolol
Propanolol [INN-Spanish]
Prophylux
Propranalol
Propranolol
Propranolol (INN)
Propranolol (TN)
Propranolol Hcl
Propranolol Hcl Intensol
Propranolol Hydrochloride
Propranolol [INN:BAN]
Propranololo
Propranololo [DCIT]
Propranololum
Propranololum [INN-Latin]
Propranur
Proprasylyt
Pylapron
R,S-Propranolol Hydrochloride
Racemic propranolol
Rapynogen
Reducor
Reducor Line
Reducor line
SPBio_001361
SPBio_001658
SPBio_003093
STK735510
Sagittol
Sawatal
Servanolol
Sloprolol
Spectrum2_001301
Spectrum2_001699
Spectrum3_000883
Spectrum3_001071
Spectrum4_000974
Spectrum4_001222
Spectrum5_000751
Sumial
Tesnol
UNII-9Y8NXQ24VQ
b-Propranolol
beta-Propranolol
cMAP_000071
etalong
propranolol
propranololo
β-Propranolol

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Multicenter Trial of the Efficacy and Safety of Diclegis® for Nausea and Vomiting of Pregnancy in Pregnant AdolescentsRecruitingNCT02045901Phase 4
2Efficacy/Safety Study of Brisdelle™ (Formerly Known as Mesafem) in the Treatment of Vasomotor Symptoms (VMS)CompletedNCT01361308Phase 3
3Physical Therapies in the Decongestive Treatment of LymphedemaCompletedNCT01748604
4Quality of Life Changes on Lower Extremity Lymphedema Patients Using an Advanced PCDRecruitingNCT02661646
5Validation LymphoqolRecruitingNCT01922635
6Validation of a New Method of Limb VolumetryRecruitingNCT01574911
7Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema TreatmentEnrolling by invitationNCT01273909
8Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic DisordersEnrolling by invitationNCT00833599
9Propranolol Dose Escalation in Lymphedema in PatientsNot yet recruitingNCT02595996

Search NIH Clinical Center for Hereditary Lymphedema

Genetic Tests for Hereditary Lymphedema

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Anatomical Context for Hereditary Lymphedema

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FMA organs/tissues related to Hereditary Lymphedema:

16
Legs

Animal Models for Hereditary Lymphedema or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Lymphedema:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.5FLT4, FOXC1, FOXC2, FOXL1
2MP:00028737.9FLT4, FOXC1, FOXC2, GJC2

Publications for Hereditary Lymphedema

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Articles related to Hereditary Lymphedema:

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

Variations for Hereditary Lymphedema

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Expression for genes affiliated with Hereditary Lymphedema

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Search GEO for disease gene expression data for Hereditary Lymphedema.

Pathways for genes affiliated with Hereditary Lymphedema

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FOXC1, FOXC2

GO Terms for genes affiliated with Hereditary Lymphedema

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of apoptotic process involved in outflow tract morphogenesisGO:190225710.1FOXC1, FOXC2
2lymphangiogenesisGO:000194610.1FLT4, FOXC2
3positive regulation of endothelial cell migrationGO:001059510.1FLT4, FOXC2
4vascular endothelial growth factor signaling pathwayGO:003808410.1FLT4, FOXC1
5neural crest cell developmentGO:001403210.0FOXC1, FOXC2
6regulation of blood vessel sizeGO:005088010.0FOXC1, FOXC2
7embryonic heart tube developmentGO:003505010.0FOXC1, FOXC2
8somitogenesisGO:000175610.0FOXC1, FOXC2
9cardiac muscle cell proliferationGO:00600389.9FOXC1, FOXC2
10paraxial mesoderm formationGO:00483419.9FOXC1, FOXC2
11regulation of organ growthGO:00466209.9FOXC1, FOXC2
12artery morphogenesisGO:00488449.8FOXC1, FOXC2
13ventricular cardiac muscle tissue morphogenesisGO:00550109.8FOXC1, FOXC2
14ureteric bud developmentGO:00016579.8FOXC1, FOXC2
15camera-type eye developmentGO:00430109.7FOXC1, FOXC2
16blood vessel remodelingGO:00019749.7FOXC1, FOXC2
17kidney developmentGO:00018229.6FOXC1, FOXC2
18lymph vessel developmentGO:00019459.5FLT4, FOXC1, FOXC2
19ossificationGO:00015039.5FOXC1, FOXC2
20heart morphogenesisGO:00030079.5FOXC1, FOXC2
21blood vessel developmentGO:00015689.4FOXC1, FOXC2
22cell differentiationGO:00301549.1FOXC1, FOXC2, FOXL1
23collagen fibril organizationGO:00301999.1FOXC1, FOXC2
24vascular endothelial growth factor receptor signaling pathwayGO:00480109.0FLT4, FOXC1, FOXC2
25heart developmentGO:00075078.8FOXC1, FOXC2, FOXL1

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.7FOXC1, FOXC2
2DNA binding, bendingGO:00083019.5FOXC1, FOXL1
3sequence-specific DNA bindingGO:00435658.9FOXC1, FOXC2, FOXL1

Sources for Hereditary Lymphedema

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet