PCL
MCID: HRD202
MIFTS: 30

Hereditary Lymphedema I (PCL)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hereditary Lymphedema I

MalaCards integrated aliases for Hereditary Lymphedema I:

Name: Hereditary Lymphedema I 12 15
Hereditary Lymphedema Type I 12 29 6
Congenital Primary Lymphedema 12
Lymphedema Hereditary Type 1 76
Nonne-Milroy Lymphedema 12
Milroy Disease 12
Lmph1 12
Pcl 12

Classifications:



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Disease Ontology 12 DOID:0070212
UMLS 73 C1704423

Summaries for Hereditary Lymphedema I

Disease Ontology : 12 A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.

MalaCards based summary : Hereditary Lymphedema I, also known as hereditary lymphedema type i, is related to hereditary lymphedema and lymphedema. An important gene associated with Hereditary Lymphedema I is FLT4 (Fms Related Tyrosine Kinase 4). Affiliated tissues include lung, spinal cord and prostate, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 76 Milroy''s disease (MD) is a familial disease characterized by lymphedema, commonly in the legs, caused... more...

Related Diseases for Hereditary Lymphedema I

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



Diseases related to Hereditary Lymphedema I

Symptoms & Phenotypes for Hereditary Lymphedema I

MGI Mouse Phenotypes related to Hereditary Lymphedema I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 ARAP3 FLT4 PHF19 SLC25A3 SOX18 SPAG17
2 homeostasis/metabolism MP:0005376 9.17 ACD FLT4 PHF19 SLC25A3 SOX18 SPAG17

Drugs & Therapeutics for Hereditary Lymphedema I

Search Clinical Trials , NIH Clinical Center for Hereditary Lymphedema I

Genetic Tests for Hereditary Lymphedema I

Genetic tests related to Hereditary Lymphedema I:

# Genetic test Affiliating Genes
1 Hereditary Lymphedema Type I 29 FLT4

Anatomical Context for Hereditary Lymphedema I

MalaCards organs/tissues related to Hereditary Lymphedema I:

41
Lung, Spinal Cord, Prostate

Publications for Hereditary Lymphedema I

Articles related to Hereditary Lymphedema I:

# Title Authors Year
1
Antenatal presentation of hereditary lymphedema type I. ( 25896638 )
2015
2
Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I. ( 17945164 )
2007
3
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. ( 16965327 )
2006
4
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. ( 16924388 )
2006
5
Clinical variability in a Japanese hereditary lymphedema type I family with an FLT4 mutation. ( 15904433 )
2005

Variations for Hereditary Lymphedema I

Cosmic variations for Hereditary Lymphedema I:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM52970 GNA11 soft tissue,leg,haemangioma,congenital c.626A>C p.Q209P 19:3118944-3118944 4

Expression for Hereditary Lymphedema I

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

Pathways for Hereditary Lymphedema I

GO Terms for Hereditary Lymphedema I

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of endothelial cell proliferation GO:0001938 9.26 FLT4 VIP
2 vasculature development GO:0001944 9.16 FLT4 SOX18
3 lymph vessel development GO:0001945 8.96 FLT4 SOX18
4 lymphangiogenesis GO:0001946 8.62 FLT4 SOX18

Sources for Hereditary Lymphedema I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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