MCID: HRD007
MIFTS: 49

Hereditary Lymphedema malady

Genetic diseases, Rare diseases, Immune diseases, Eye diseases, Cardiovascular diseases, Skin diseases categories
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Summaries for Hereditary Lymphedema

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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 based summary: Hereditary Lymphedema, also known as milroy disease, is related to lymphedema and lymphedema-distichiasis syndrome, and has symptoms including An important gene associated with Hereditary Lymphedema is FLT4 (fms-related tyrosine kinase 4), and among its related pathways are VEGF Pathway and Tyrosine Kinases / Adaptors. Affiliated tissues include legs, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

Disease Ontology:8 A lymphedema commonly located in legs, caused by congenital abnormalities in the lymphatic system.

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

Descriptions from OMIM:46 247440, 153200, 613480, 611944, 615907 153100 more

GeneReviews summary for milroy

Aliases & Classifications for Hereditary Lymphedema

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Hereditary Lymphedema, Aliases & Descriptions:

Name: Hereditary Lymphedema 8 42 62
Milroy Disease 19 42 20 21
Nonne-Milroy Lymphedema 8 21 62
Hereditary Lymphedema 1 42 22 62
Milroy's Disease 8 42 21
Congenital Hereditary Lymphedema 42 62
Congenital Familial Lymphedema 21 62
Primary Congenital Lymphedema 42 62
 
Hereditary Lymphedema Type I 21 62
Nonne-Milroy Disease 42 62
Hereditary Lymphedema, Type I 19
Milroy Congenital Lymphedema 19
Lymphedema, Early-Onset 62
Early Onset Lymphedema 42
Nonne-Milroy Syndrome 42
Nonne’s Syndrome 42


Classifications:



External Ids:

Disease Ontology8 DOID:0050580
ICD9CM27 757.0

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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Clinical features from OMIM:

247440,153200,613480,611944,615907,153100

HPO human phenotypes related to Hereditary Lymphedema:

(show all 14)
id Description Frequency HPO Source Accession
1 wide mouth hallmark (90%) HP:0000154
2 full cheeks hallmark (90%) HP:0000293
3 micrognathia hallmark (90%) HP:0000347
4 abnormality of the eye hallmark (90%) HP:0000478
5 downslanted palpebral fissures hallmark (90%) HP:0000494
6 lymphedema hallmark (90%) HP:0001004
7 abnormality of the intestine hallmark (90%) HP:0002242
8 erysipelas typical (50%) HP:0001055
9 patent ductus arteriosus typical (50%) HP:0001643
10 abnormality of the aorta typical (50%) HP:0001679
11 short stature typical (50%) HP:0004322
12 cognitive impairment typical (50%) HP:0100543
13 skin ulcer typical (50%) HP:0200042
14 verrucae occasional (7.5%) HP:0200043

Drugs & Therapeutics for Hereditary Lymphedema

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Drug clinical trials:

Search ClinicalTrials for Hereditary Lymphedema

Search NIH Clinical Center for Hereditary Lymphedema

Genetic Tests for Hereditary Lymphedema

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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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FMA organs/tissues related to Hereditary Lymphedema:

14
Legs

Animal Models for Hereditary Lymphedema or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Lymphedema:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0FOXC1, FOXC2, FLT4
2MP:00053818.5FOXC1, FOXL1, FOXC2, FLT4
3MP:00053857.9FOXC1, FOXC2, FLT4, VEGFC
4MP:00107687.5VEGFC, FLT4, FOXC2, FOXL1, FOXC1

Publications for Hereditary Lymphedema

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Articles related to Hereditary Lymphedema:

(show all 30)
idTitleAuthorsYear
1
Hereditary Lymphedema, Characteristics, and Variations in 17 Adult Patients with Lymphedema Cholestasis Syndrome 1/Aagenaes Syndrome. (25317502)
2014
2
Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression. (21918810)
2012
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
Stewart-Treves syndrome as a rare complication of a hereditary lymphedema. (15061047)
2004
9
A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. (15523639)
2004
10
Kaposiform hemangioendothelioma associated with Milroy's disease (primary hereditary lymphedema). (12861592)
2003
11
Age of onset in hereditary lymphedema. (12838201)
2003
12
Syndromic classification of hereditary lymphedema. (14992570)
2003
13
A model for gene therapy of human hereditary lymphedema. (11592985)
2001
14
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. (10856194)
2000
15
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. (11078474)
2000
16
Lymphangiosarcoma of the pubic region: a rare complication arising in congenital non-hereditary lymphedema. (9854166)
1998
17
Hereditary lymphedema: evidence for linkage and genetic heterogeneity. (9817924)
1998
18
Lymphangiosarcoma in late-onset hereditary lymphedema: case report and nosological implications. (7747790)
1995
19
Hereditary lymphedema in Hereford cattle. (2039787)
1991
20
Hereditary lymphedema and distichiasis. (2064580)
1991
21
Congenital hereditary lymphedema (Nonne/Milroy). (2616174)
1989
22
Congenital hereditary lymphedema in the pig. (642582)
1978
23
The pathogenesis of congenital hereditary lymphedema in the pig. (642583)
1978
24
Scintilymphangiography with 99 mTc-antimony sulfide colloid in hereditary lymphedema (Nonne-Milroy diseases). (709985)
1978
25
Chronic hereditary lymphedema of the legs with congenital conjunctival lymphedema. (5020171)
1972
26
Hereditary lymphedema and obstructive jaundice. (5544157)
1971
27
PLEURAL EFFUSION IN CHRONIC HEREDITARY LYMPHEDEMA (NONNE, MILROY, MEIGE'S DISEASE). REPORT OF TWO CASES. (14115303)
1964
28
Genetic and physiological aspects of a family with chronic hereditary lymphedema (Nonne-Milroy-Meige's disease) and hereditary angioneurotic edema. (13533392)
1958
29
Prednisone in the management of idiopathic hereditary lymphedema (Milroy's disease). (13345610)
1956
30
Chronic hereditary lymphedema (Nonne-Milroy-Meige's Disease). (15418956)
1950

Variations for Hereditary Lymphedema

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Clinvar genetic disease variations for Hereditary Lymphedema:

6
id Gene Name Type Significance SNP ID Assembly Location
1FLT4NM_182925.4(FLT4): c.2569G> A (p.Gly857Arg)single nucleotide variantPathogenicrs267606818GRCh37Chr 5, 180046743: 180046743
2FLT4NM_182925.4(FLT4): c.3122G> C (p.Arg1041Pro)single nucleotide variantPathogenicrs121909650GRCh37Chr 5, 180043464: 180043464
3FLT4NM_182925.4(FLT4): c.3131T> C (p.Leu1044Pro)single nucleotide variantPathogenicrs121909651GRCh37Chr 5, 180043455: 180043455
4FLT4NM_182925.4(FLT4): c.3341C> T (p.Pro1114Leu)single nucleotide variantPathogenicrs121909652GRCh37Chr 5, 180040101: 180040101
5FLT4NM_182925.4(FLT4): c.2632G> A (p.Val878Met)single nucleotide variantPathogenicrs121909654GRCh37Chr 5, 180046680: 180046680
6FLT4NM_182925.4(FLT4): c.3257T> C (p.Ile1086Thr)single nucleotide variantPathogenicrs121909655GRCh37Chr 5, 180041142: 180041142
7FLT4NM_182925.4(FLT4): c.3316G> A (p.Glu1106Lys)single nucleotide variantPathogenicrs121909656GRCh37Chr 5, 180041083: 180041083
8FLT4NM_182925.4(FLT4): c.2563G> A (p.Ala855Thr)single nucleotide variantPathogenicrs121909657GRCh37Chr 5, 180046749: 180046749

Expression for genes affiliated with Hereditary Lymphedema

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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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Compounds for genes affiliated with Hereditary Lymphedema

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GO Terms for genes affiliated with Hereditary Lymphedema

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Cellular components related to Hereditary Lymphedema according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.9HNRNPH1, FOXC1, FOXL1, FOXC2, FLT4

Biological processes related to Hereditary Lymphedema according to GeneCards/GeneDecks:

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1lymphangiogenesisGO:00194610.0FOXC2, FLT4
2positive regulation of endothelial cell migrationGO:0105959.9FOXC2, FLT4
3lymph vessel developmentGO:0019459.8FOXC1, FLT4
4negative regulation of apoptotic process involved in outflow tract morphogenesisGO:19022579.8FOXC2, FOXC1
5regulation of organ growthGO:0466209.8FOXC1, FOXC2
6regulation of blood vessel sizeGO:0508809.7FOXC1, FOXC2
7cardiac muscle cell proliferationGO:0600389.7FOXC1, FOXC2
8embryonic heart tube developmentGO:0350509.7FOXC2, FOXC1
9neural crest cell developmentGO:0140329.7FOXC2, FOXC1
10artery morphogenesisGO:0488449.7FOXC1, FOXC2
11ventricular cardiac muscle tissue morphogenesisGO:0550109.7FOXC1, FOXC2
12blood vessel remodelingGO:0019749.7FOXC1, FOXC2
13collagen fibril organizationGO:0301999.6FOXC2, FOXC1
14tissue developmentGO:0098889.6FOXL1, FOXC1
15ureteric bud developmentGO:0016579.6FOXC2, FOXC1
16somitogenesisGO:0017569.6FOXC1, FOXC2
17regulation of sequence-specific DNA binding transcription factor activityGO:0510909.6FOXC1, FOXC2
18ossificationGO:0015039.5FOXC1, FOXC2
19pattern specification processGO:0073899.4FOXC1, FOXL1
20brain developmentGO:0074209.3FOXC1, FOXL1
21camera-type eye developmentGO:0430109.2FOXC1, FOXL1, FOXC2
22embryo developmentGO:0097909.2FOXC1, FOXL1
23heart developmentGO:0075079.2FOXC2, FOXL1, FOXC1
24negative regulation of apoptotic processGO:0430669.1FLT4, FOXC2, FOXC1
25organ morphogenesisGO:0098879.1VEGFC, FOXL1
26Notch signaling pathwayGO:0072199.1FOXC1, FOXC2
27vascular endothelial growth factor receptor signaling pathwayGO:0480108.5FOXC1, FOXC2, FLT4, VEGFC

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1chromatin DNA bindingGO:0314909.5FOXC1, FOXC2
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.4FOXC2, FOXC1
3double-stranded DNA bindingGO:0036909.3FOXC1, FOXC2
4transcription regulatory region DNA bindingGO:0442129.1FOXC1, FOXC2
5DNA binding, bendingGO:0083019.0FOXC1, FOXL1, FOXC2
6sequence-specific DNA bindingGO:0435658.9FOXC1, FOXL1, FOXC2
7sequence-specific DNA binding transcription factor activityGO:0037008.9FOXC1, FOXL1, FOXC2

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet