MCID: HRD007
MIFTS: 47

Hereditary Lymphedema malady

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Hereditary Lymphedema

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Aliases & Descriptions for Hereditary Lymphedema:

Name: Hereditary Lymphedema 10 45 12
Milroy Disease 21 45 22 23 65
Hereditary Lymphedema Type I 45 23 24
Nonne-Milroy Lymphedema 10 45 23
Milroy's Disease 10 45 23
Hereditary Lymphedema, Type I 21 22
Milroy Congenital Lymphedema 21 22
Congenital Hereditary Lymphedema 45
Congenital Familial Lymphedema 23
 
Hereditary Lymphoedema, Type I 22
Congenital Primary Lymphedema 45
Primary Congenital Lymphedema 45
Milroy Congenital Lymphoedema 22
Hereditary Lymphedema 1 45
Early Onset Lymphedema 45
Nonne-Milroy Syndrome 45
Nonne-Milroy Disease 45
Nonne’s Syndrome 45

Classifications:



External Ids:

Disease Ontology10 DOID:0050580
ICD9CM29 757.0
UMLS65 C1313885, C1704423

Summaries for Hereditary Lymphedema

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NIH Rare Diseases:45 Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. lymphedema is usually present at birth or develops in infancy. it typically occurs on both sides of the body and can worsen over time. other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. milroy disease is sometimes caused by changes (mutations) in the flt4 gene and is inherited in an autosomal dominant manner. in many cases, the cause remains unknown. treatment may include lymphedema therapy to improve function and alleviate symptoms. last updated: 1/29/2015

MalaCards based summary: Hereditary Lymphedema, also known as milroy disease, is related to hereditary lymphedema type ii and lymphedema, hereditary, ic, and has symptoms including pain of lymph node, pain of lymph node and massive edema. 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, endothelial and breast, and related mouse phenotypes are digestive/alimentary and normal.

Disease Ontology:10 A lymphedema commonly located in legs, caused by congenital abnormalities in the lymphatic system.

Wikipedia:68 Milroy\'s disease is a familial disease characterized by lymphedema, commonly in the legs, caused by... more...

GeneReviews summary for NBK1239

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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UMLS symptoms related to Hereditary Lymphedema:


pain of lymph node, massive edema

Drugs & Therapeutics for Hereditary Lymphedema

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Contraceptives, OralPhase 4, Phase 33734
2
Paroxetineapproved, investigationalPhase 322161869-08-743815
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
3Psychotropic DrugsPhase 35501
4Serotonin AgentsPhase 32668
5Serotonin Uptake InhibitorsPhase 31369
6Neurotransmitter Uptake InhibitorsPhase 32857
7
SerotoninPhase 3314750-67-95202
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
8Neurotransmitter AgentsPhase 314795
9Antidepressive AgentsPhase 32367
10Antidepressive Agents, Second-GenerationPhase 31087
11Cytochrome P-450 CYP2D6 InhibitorsPhase 3602
12Cytochrome P-450 Enzyme InhibitorsPhase 33036
13
Propranololapproved, investigational202525-66-64946
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
14Vasodilator Agents2926
15Antihypertensive Agents3618
16Adrenergic Agents4204
17Adrenergic Antagonists1253
18Adrenergic beta-Antagonists979
19Anti-Arrhythmia Agents2371

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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MalaCards organs/tissues related to Hereditary Lymphedema:

33
Endothelial, Breast, Adipocyte, Heart, Kidney, B cells, Lung

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 34)
idTitleAuthorsYear
1
A novel mutation in CELSR1 is associated with hereditary lymphedema. (26855770)
2016
2
A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema. (26091405)
2015
3
Antenatal presentation of hereditary lymphedema type I. (25896638)
2015
4
Hereditary Lymphedema, Characteristics, and Variations in 17 Adult Patients with Lymphedema Cholestasis Syndrome 1/Aagenaes Syndrome. (25317502)
2014
5
Excision of Elephantiasis Nostras Verrucosa Lesions in a Patient With Hereditary Lymphedema: Case Report and Review of the Literature. (25441846)
2014
6
Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression. (21918810)
2012
7
Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I. (17945164)
2007
8
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. (16965327)
2006
9
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. (16924388)
2006
10
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
11
Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation. (15904433)
2005
12
Stewart-Treves syndrome as a rare complication of a hereditary lymphedema. (15061047)
2004
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
Kaposiform hemangioendothelioma associated with Milroy's disease (primary hereditary lymphedema). (12861592)
2003
15
Age of onset in hereditary lymphedema. (12838201)
2003
16
Syndromic classification of hereditary lymphedema. (14992570)
2003
17
A model for gene therapy of human hereditary lymphedema. (11592985)
2001
18
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. (10856194)
2000
19
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. (11078474)
2000
20
Lymphangiosarcoma of the pubic region: a rare complication arising in congenital non-hereditary lymphedema. (9854166)
1998
21
Hereditary lymphedema: evidence for linkage and genetic heterogeneity. (9817924)
1998
22
Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. (7747790)
1995
23
Hereditary lymphedema in Hereford cattle. (2039787)
1991
24
Hereditary lymphedema and distichiasis. (2064580)
1991
25
Congenital hereditary lymphedema (Nonne/Milroy). (2616174)
1989
26
Congenital hereditary lymphedema in the pig. (642582)
1978
27
The pathogenesis of congenital hereditary lymphedema in the pig. (642583)
1978
28
Scintilymphangiography with 99 mTc-antimony sulfide colloid in hereditary lymphedema (Nonne-Milroy diseases). (709985)
1978
29
Chronic hereditary lymphedema of the legs with congenital conjunctival lymphedema. (5020171)
1972
30
Hereditary lymphedema and obstructive jaundice. (5544157)
1971
31
PLEURAL EFFUSION IN CHRONIC HEREDITARY LYMPHEDEMA (NONNE, MILROY, MEIGE'S DISEASE). REPORT OF TWO CASES. (14115303)
1964
32
Genetic and physiological aspects of a family with chronic hereditary lymphedema (Nonne-Milroy-Meige's disease) and hereditary angioneurotic edema. (13533392)
1958
33
Prednisone in the management of idiopathic hereditary lymphedema (Milroy's disease). (13345610)
1956
34
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 pathwaysScoreTop 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 19)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of apoptotic process involved in outflow tract morphogenesisGO:190225710.1FOXC1, FOXC2
2paraxial mesoderm formationGO:004834110.0FOXC1, FOXC2
3ventricular cardiac muscle tissue morphogenesisGO:005501010.0FOXC1, FOXC2
4collagen fibril organizationGO:003019910.0FOXC1, FOXC2
5neural crest cell developmentGO:001403210.0FOXC1, FOXC2
6regulation of organ growthGO:004662010.0FOXC1, FOXC2
7blood vessel remodelingGO:000197410.0FOXC1, FOXC2
8artery morphogenesisGO:00488449.9FOXC1, FOXC2
9blood vessel developmentGO:00015689.9FOXC1, FOXC2
10embryonic heart tube developmentGO:00350509.9FOXC1, FOXC2
11somitogenesisGO:00017569.8FOXC1, FOXC2
12kidney developmentGO:00018229.8FOXC1, FOXC2
13heart developmentGO:00075079.7FOXC1, FOXC2
14ossificationGO:00015039.7FOXC1, FOXC2
15skeletal system developmentGO:00015019.6FOXC1, FOXC2
16lymph vessel developmentGO:00019459.4FLT4, FOXC1, FOXC2
17cell proliferationGO:00082839.4FOXC1, FOXC2
18vascular endothelial growth factor receptor signaling pathwayGO:00480109.0FLT4, FOXC1, FOXC2
19regulation of transcription, DNA-templatedGO:00063558.6FOXC1, 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