MCID: HRD007
MIFTS: 52

Hereditary Lymphedema malady

Eye diseases, Cardiovascular diseases, Skin diseases, Immune diseases, Ear diseases, Genetic diseases categories

Summaries for Hereditary Lymphedema

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet soon after birth. other symptoms may include accumulation of fluid in the scrotum, abnormalities of the urethra, upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and cellulitis. gene mutations in the flt4 gene cause some cases of milroy disease, however for many cases the cause of the disorder is unknown. last updated: 7/29/2011

MalaCards: Hereditary Lymphedema, also known as milroy disease, is related to lymphedema and lymphedema-distichiasis syndrome. An important gene associated with Hereditary Lymphedema is FLT4 (fms-related tyrosine kinase 4), and among its related pathways are Angiogenesis and Signaling by VEGF. Affiliated tissues include eye and skin, and related mouse phenotypes are digestive/alimentary and mortality/aging.

Genetics Home Reference:21 Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time.

Wikipedia:63 Milroy\'s disease is a familial disease characterized by lymphedema, commonly in the legs, caused by... more...

Description from OMIM:46 153100,613480,247440,611944

GeneReviews summary for milroy

Aliases & Classifications for Hereditary Lymphedema

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
milroy disease:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hereditary lymphedema 8 42 60
milroy disease 19 42 20 21 48
nonne-milroy lymphedema 8 21 48
milroy's disease 8 42 21
hereditary lymphedema type i 21 48
hereditary lymphedema 1 42 22
congenital hereditary lymphedema 42
congenital familial lymphedema 21
hereditary lymphedema, type i 19
milroy congenital lymphedema 19
lymphedema, hereditary i 46
early onset lymphedema 42


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Disease Ontology8 DOID:0050580
ICD10 via Orphanet26 Q82.0
UMLS via Orphanet61 C1704423

Related Diseases for Hereditary Lymphedema

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hereditary Lymphedema:



Diseases related to hereditary lymphedema

Clinical Features for Hereditary Lymphedema

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46OMIM
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Clinical features from OMIM:

153100,613480,247440,611944

Clinical synopsis from OMIM:

153100

Drugs & Therapeutics for Hereditary Lymphedema

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hereditary Lymphedema

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20GeneTests, 22GTR
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Genetic tests related to Hereditary Lymphedema:

id Genetic test Affiliating Genes
1 Milroy Disease20 FLT4
2 Hereditary Lymphedema Type I22

Anatomical Context for Hereditary Lymphedema

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32MalaCards
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MalaCards organs/tissues related to Hereditary Lymphedema:

32
Eye, Skin

Animal Models for Hereditary Lymphedema or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Lymphedema:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.1FOXC2, FOXC1, FOXL1, FLT4
2MP:00107687.0FOXC2, FOXC1, FOXL1, FLT4, VEGFC, GJC2

Publications for Hereditary Lymphedema

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50PubMed
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Articles related to Hereditary Lymphedema:

(show all 32)
idTitleAuthorsYear
1
Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression. (21918810)
2012
2
Hereditary palmoplantar keratoderma associated with primary (congenital) lymphedema. (19725273)
2009
3
Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I. (17945164)
2007
4
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. (16965327)
2006
5
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. (16924388)
2006
6
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
7
Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation. (15904433)
2005
8
Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema. (16231305)
2005
9
Stewart-Treves syndrome as a rare complication of a hereditary lymphedema. (15061047)
2004
10
A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. (15523639)
2004
11
Kaposiform hemangioendothelioma associated with Milroy's disease (primary hereditary lymphedema). (12861592)
2003
12
Age of onset in hereditary lymphedema. (12838201)
2003
13
Syndromic classification of hereditary lymphedema. (14992570)
2003
14
A model for gene therapy of human hereditary lymphedema. (11592985)
2001
15
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. (10856194)
2000
16
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. (11078474)
2000
17
Lymphangiosarcoma of the pubic region: a rare complication arising in congenital non-hereditary lymphedema. (9854166)
1998
18
Hereditary lymphedema: evidence for linkage and genetic heterogeneity. (9817924)
1998
19
Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. (7747790)
1995
20
Hereditary lymphedema in Hereford cattle. (2039787)
1991
21
Hereditary lymphedema and distichiasis. (2064580)
1991
22
Congenital hereditary lymphedema (Nonne/Milroy). (2616174)
1989
23
Hereditary spinal arachnoid cysts, distichiasis, and lymphedema. (7377759)
1980
24
Congenital hereditary lymphedema in the pig. (642582)
1978
25
The pathogenesis of congenital hereditary lymphedema in the pig. (642583)
1978
26
Scintilymphangiography with 99 mTc-antimony sulfide colloid in hereditary lymphedema (Nonne-Milroy diseases). (709985)
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

Genetic Variations for Hereditary Lymphedema

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Lymphedema:

62
id Symbol AA change Variation ID SNP ID
1FLT4p.Gly857ArgVAR_018409
2FLT4p.His1035ArgVAR_018412
3FLT4p.Arg1041ProVAR_018413
4FLT4p.Leu1044ProVAR_018414
5FLT4p.Pro1114LeuVAR_018415

Expression for genes affiliated with Hereditary Lymphedema

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Lymphedema

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Pathways for genes affiliated with Hereditary Lymphedema

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4Cell Signaling Technology, 53Reactome, 49PharmGKB, 55SinoBiological, 51QIAGEN, 12EMD Millipore, 37NCBI BioSystems Database
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Compounds for genes affiliated with Hereditary Lymphedema

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GO Terms for genes affiliated with Hereditary Lymphedema

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16Gene Ontology
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Biological processes related to Hereditary Lymphedema according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1lymphangiogenesisGO:0019469.9FOXC2, FLT4
2positive regulation of endothelial cell migrationGO:0105959.8FOXC2, FLT4
3lymph vessel developmentGO:0019459.6FLT4, FOXC1
4regulation of organ growthGO:0466209.5FOXC1, FOXC2
5cardiac muscle cell proliferationGO:0600389.4FOXC2, FOXC1
6regulation of blood vessel sizeGO:0508809.4FOXC2, FOXC1
7neural crest cell developmentGO:0140329.4FOXC1, FOXC2
8embryonic heart tube developmentGO:0350509.4FOXC1, FOXC2
9artery morphogenesisGO:0488449.4FOXC2, FOXC1
10organ morphogenesisGO:0098879.4VEGFC, FOXL1
11ventricular cardiac muscle tissue morphogenesisGO:0550109.4FOXC1, FOXC2
12blood vessel remodelingGO:0019749.3FOXC1, FOXC2
13collagen fibril organizationGO:0301999.3FOXC1, FOXC2
14tissue developmentGO:0098889.3FOXL1, FOXC1
15somitogenesisGO:0017569.3FOXC2, FOXC1
16ureteric bud developmentGO:0016579.2FOXC2, FOXC1
17regulation of sequence-specific DNA binding transcription factor activityGO:0510909.2FOXC1, FOXC2
18ossificationGO:0015039.0FOXC2, FOXC1
19pattern specification processGO:0073899.0FOXL1, FOXC1
20camera-type eye developmentGO:0430108.9FOXC2, FOXC1, FOXL1
21heart developmentGO:0075078.8FOXL1, FOXC1, FOXC2
22vascular endothelial growth factor receptor signaling pathwayGO:0480108.7VEGFC, FLT4, FOXC1, FOXC2
23negative regulation of apoptotic processGO:0430668.5FLT4, FOXC1, FOXC2

Molecular functions related to Hereditary Lymphedema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.1FOXC1, FOXC2
2chromatin DNA bindingGO:0314909.0FOXC1, FOXC2
3DNA binding, bendingGO:0083018.5FOXL1, FOXC1, FOXC2
4sequence-specific DNA bindingGO:0435658.2FOXC2, FOXC1, FOXL1

Products for genes affiliated with Hereditary Lymphedema

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Sources for Hereditary Lymphedema

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet