MCID: HRD204
MIFTS: 18

Hereditary Lymphedema Ia

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hereditary Lymphedema Ia

MalaCards integrated aliases for Hereditary Lymphedema Ia:

Name: Hereditary Lymphedema Ia 12
Lymphedema, Hereditary, Type Ia 39
Lymphedema, Hereditary, Ia 6
Milroy Disease 70
Lmph1a 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070210
UMLS 70 C1704423

Summaries for Hereditary Lymphedema Ia

Disease Ontology : 12 A hereditary lymphedema characterized by autosomal dominant inheritance that has material basis in mutation in the FLT4 gene on chromosome 5q35.

MalaCards based summary : Hereditary Lymphedema Ia, also known as lymphedema, hereditary, type ia, is related to lymphatic malformation 1. An important gene associated with Hereditary Lymphedema Ia is FLT4 (Fms Related Receptor Tyrosine Kinase 4). Affiliated tissues include endothelial and skin.

Related Diseases for Hereditary Lymphedema Ia

Diseases in the Primary Lymphedema family:

Hereditary Lymphedema Hereditary Lymphedema Ic
Hereditary Lymphedema Id Hereditary Lymphedema Ia
Hereditary Lymphedema Ib Hereditary Lymphedema I
Hereditary Lymphedema Ii Congenital Lymphedema
Celsr1-Related Late-Onset Primary Lymphedema Gjc2-Related Late-Onset Primary Lymphedema

Diseases related to Hereditary Lymphedema Ia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 1 11.2

Symptoms & Phenotypes for Hereditary Lymphedema Ia

Drugs & Therapeutics for Hereditary Lymphedema Ia

Search Clinical Trials , NIH Clinical Center for Hereditary Lymphedema Ia

Genetic Tests for Hereditary Lymphedema Ia

Anatomical Context for Hereditary Lymphedema Ia

MalaCards organs/tissues related to Hereditary Lymphedema Ia:

40
Endothelial, Skin

Publications for Hereditary Lymphedema Ia

Articles related to Hereditary Lymphedema Ia:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation. 61 6
19289394 2009
2
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. 6 61
16965327 2006
3
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. 6 61
16924388 2006
4
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. 6 61
10856194 2000
5
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. 6
12960217 2003
6
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. 6
10835628 2000
7
Hereditary lymphedema: evidence for linkage and genetic heterogeneity. 6
9817924 1998
8
De novo novel splice-site mutation in FLT4/VEGFR3 is associated with Milroy disease. 61
32991753 2021
9
The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases. 61
33067626 2020
10
Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema. 61
32592340 2020
11
Surgical treatment of Milroy disease. 61
31165487 2020
12
Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome. 61
31721633 2019
13
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot. 61
30582441 2019
14
Immunohistochemical Evaluation of Histological Change in a Chinese Milroy Disease Family With Venous and Skin Abnormities. 61
30941160 2019
15
A novel mutation in the conserved sequence of vascular endothelial growth factor receptor 3 leads to primary lymphoedema. 61
29896974 2018
16
From fish embryos to human patients: lymphangiogenesis in development and disease. 61
29800868 2018
17
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon. 61
30071673 2018
18
Modified enteromesenteric bridging operation for primary lymphedema. 61
30337509 2018
19
[Primary lymphedema due to Milroy disease]. 61
26818397 2017
20
[Primary congenital lymphedema: Milroy disease: the first case observed in the Department of Pediatrics at the University Hospital Yalgado Ouedraogo, Ouagadougou]. 61
28748022 2017
21
Atypical retiform hemangioendothelioma arising in a patient with Milroy disease: a case report and review of the literature. 61
27730656 2017
22
Milroy Disease or Primary Congenital Lymphedema Associated With Invasive Squamous Cell Carcinoma. 61
27374380 2016
23
Rare Variants in LAMA5 Gene associated with FLT4 and FOXC2 Mutations in Primary Lymphedema May Contribute to Severity. 61
29908552 2016
24
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. 61
26275891 2015
25
A NOVEL FLT4 GENE MUTATION AND MR LYMPHANGIOGRAPHY IN A CHINESE FAMILY WITH MILROY DISEASE. 61
26714373 2015
26
Antenatal presentation of hereditary lymphedema type I. 61
25896638 2015
27
Stewart-Treves Syndrome of the Lower Extremity. 61
26312726 2015
28
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 61
24744435 2014
29
Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development. 61
24163130 2014
30
A novel FLT4 mutation identified in a patient with Milroy disease. 61
25109169 2014
31
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. 61
23410910 2013
32
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update. 61
23074044 2013
33
Four generations of rare familial lymphedema (Milroy disease). 61
23751338 2013
34
[Congenital Milroy Oedema: a case report of a family]. 61
22730636 2012
35
Prenatal diagnosis of Milroy disease. 61
22021048 2011
36
[Identification of VEGFR3 gene mutation in a Chinese family with autosomal dominant primary congenital lymphoedema]. 61
20677139 2010
37
Milroy's primary congenital lymphedema in a male infant and review of the literature. 61
20555004 2010
38
Lymphatic dysfunction, not aplasia, underlies Milroy disease. 61
20536741 2010
39
A new classification system for primary lymphatic dysplasias based on phenotype. 61
20447153 2010
40
Purpura-associated congenital lymphedema. 61
19620038 2009
41
Puffy feet in an 11-month-old infant: a quiz. Milroy disease. 61
19997714 2009
42
Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas. 61
19002718 2009
43
A novel VEGFR3 mutation causes Milroy disease. 61
17458866 2007
44
Fluorescence microlymphography: diagnostic potential in lymphedema and basis for the measurement of lymphatic pressure and flow velocity. 61
17853615 2007
45
Three children with Milroy disease and de novo mutations in VEGFR3. 61
17250670 2007
46
Milroy Disease 61
20301417 2006
47
Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia. 61
16419129 2006
48
Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation. 61
15904433 2005
49
Milroy disease and the VEGFR-3 mutation phenotype. 61
15689446 2005
50
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. 61
12740761 2003

Variations for Hereditary Lymphedema Ia

ClinVar genetic disease variations for Hereditary Lymphedema Ia:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLT4 NM_182925.5(FLT4):c.3320_3322TCT[1] (p.Phe1108del) Microsatellite Pathogenic 16268 rs587776833 GRCh37: 5:180041074-180041076
GRCh38: 5:180614074-180614076
2 FLT4 NM_182925.5(FLT4):c.3316G>A (p.Glu1106Lys) SNV Pathogenic 16267 rs121909656 GRCh37: 5:180041083-180041083
GRCh38: 5:180614083-180614083
3 FLT4 NM_182925.5(FLT4):c.3257T>C (p.Ile1086Thr) SNV Pathogenic 16266 rs121909655 GRCh37: 5:180041142-180041142
GRCh38: 5:180614142-180614142
4 FLT4 NM_182925.5(FLT4):c.2632G>A (p.Val878Met) SNV Pathogenic 16265 rs121909654 GRCh37: 5:180046680-180046680
GRCh38: 5:180619680-180619680
5 FLT4 NM_182925.5(FLT4):c.3104A>G (p.His1035Arg) SNV Pathogenic 16263 rs121909653 GRCh37: 5:180043482-180043482
GRCh38: 5:180616482-180616482
6 FLT4 NM_182925.5(FLT4):c.3341C>T (p.Pro1114Leu) SNV Pathogenic 16262 rs121909652 GRCh37: 5:180040101-180040101
GRCh38: 5:180613101-180613101
7 FLT4 NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro) SNV Pathogenic 16261 rs121909651 GRCh37: 5:180043455-180043455
GRCh38: 5:180616455-180616455
8 FLT4 NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr) SNV Pathogenic 16269 rs121909657 GRCh37: 5:180046749-180046749
GRCh38: 5:180619749-180619749
9 FLT4 NM_182925.5(FLT4):c.2569G>A (p.Gly857Arg) SNV Pathogenic 16259 rs267606818 GRCh37: 5:180046743-180046743
GRCh38: 5:180619743-180619743
10 FLT4 NM_182925.5(FLT4):c.3122G>C (p.Arg1041Pro) SNV Pathogenic 16260 rs121909650 GRCh37: 5:180043464-180043464
GRCh38: 5:180616464-180616464
11 FLT4 NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp) SNV Likely pathogenic 692043 rs1451816005 GRCh37: 5:180043465-180043465
GRCh38: 5:180616465-180616465
12 FLT4 NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) SNV Likely pathogenic 932061 GRCh37: 5:180040032-180040032
GRCh38: 5:180613032-180613032
13 FLT4 NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val) SNV Likely pathogenic 1030389 GRCh37: 5:180036040-180036040
GRCh38: 5:180609040-180609040
14 FLT4 NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser) SNV Uncertain significance 930398 GRCh37: 5:180041152-180041152
GRCh38: 5:180614152-180614152
15 FLT4 NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala) SNV Uncertain significance 930555 GRCh37: 5:180038407-180038407
GRCh38: 5:180611407-180611407

Expression for Hereditary Lymphedema Ia

Search GEO for disease gene expression data for Hereditary Lymphedema Ia.

Pathways for Hereditary Lymphedema Ia

GO Terms for Hereditary Lymphedema Ia

Sources for Hereditary Lymphedema Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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