PCL
MCID: HRD202
MIFTS: 26

Hereditary Lymphedema I (PCL)

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

Aliases & Classifications for Hereditary Lymphedema I

MalaCards integrated aliases for Hereditary Lymphedema I:

Name: Hereditary Lymphedema I 12 15
Congenital Primary Lymphedema 12
Hereditary Lymphedema Type I 12
Lymphedema Hereditary Type 1 75
Nonne-Milroy Lymphedema 12
Milroy Disease 12
Lmph1 12
Pcl 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070212
UMLS 72 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 congenital primary lymphedema, is related to hereditary lymphedema and lymphatic malformation 1. An important gene associated with Hereditary Lymphedema I is ACD (ACD Shelterin Complex Subunit And Telomerase Recruitment Factor). Related phenotypes are growth/size/body region and mortality/aging

Wikipedia : 75 Milroy's disease (MD) is a familial disease characterized by lymphedema, commonly in the legs, caused by... more...

Related Diseases for Hereditary Lymphedema I

Diseases in the Lymphedema family:

Hereditary Lymphedema Hereditary Lymphedema Ic
Hereditary Lymphedema Id Hereditary Lymphedema Ia
Hereditary Lymphedema Ib Hereditary Lymphedema I
Hereditary Lymphedema Ii Congenital Lymphedema
Primary Lymphedema

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

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 hereditary lymphedema 32.5 SLC25A3 PHF19 FLT4
2 lymphatic malformation 1 12.4
3 obsolete: congenital primary lymphedema 12.3
4 plasma cell leukemia 12.3
5 congenital lymphedema 11.7
6 lymphedema 10.7
7 hydrops, lactic acidosis, and sideroblastic anemia 10.4
8 personality disorder 10.4
9 glioblastoma multiforme 10.3
10 glioblastoma 10.3
11 glioma 10.3
12 glial tumor 10.3
13 collagenopathy type 2 alpha 1 10.3
14 withdrawal disorder 10.3 TSPO NPL
15 cellulitis 10.3
16 chudley-mccullough syndrome 10.2
17 post-traumatic stress disorder 10.2
18 acute stress disorder 10.2
19 spinal cord injury 10.2
20 primary lymphedema 10.2
21 antisocial personality disorder 10.2
22 avoidant personality disorder 10.2
23 severe combined immunodeficiency 10.2
24 papilloma 10.1
25 elephantiasis 10.1
26 hydrocele 10.1
27 colorectal cancer 10.1
28 hepatocellular carcinoma 10.1
29 gastric cancer 10.1
30 neurofibromatosis, type ii 10.0
31 prostate cancer 10.0
32 tracheoesophageal fistula with or without esophageal atresia 10.0
33 acrocallosal syndrome 10.0
34 osteogenic sarcoma 10.0
35 convulsions, familial infantile, with paroxysmal choreoathetosis 10.0
36 cervical cancer 10.0
37 anxiety 10.0
38 intraocular pressure quantitative trait locus 10.0
39 lung cancer susceptibility 3 10.0
40 alacrima, achalasia, and mental retardation syndrome 10.0
41 mulchandani-bhoj-conlin syndrome 10.0
42 lymphoma 10.0
43 bone disease 10.0
44 bacterial infectious disease 10.0
45 esophageal atresia 10.0
46 uveitis 10.0
47 candidiasis 10.0
48 neuroendocrine tumor 10.0
49 dermatitis 10.0
50 contact dermatitis 10.0

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 growth/size/body region MP:0005378 9.85 ACD DLD EDN2 FLT4 GNRH1 MTF2
2 mortality/aging MP:0010768 9.77 ACD DLD EDN2 FLT4 MTF2 PCLO
3 reproductive system MP:0005389 9.28 ACD FLT4 GNRH1 MTF2 NPL PHF19

Drugs & Therapeutics for Hereditary Lymphedema I

Search Clinical Trials , NIH Clinical Center for Hereditary Lymphedema I

Genetic Tests for Hereditary Lymphedema I

Anatomical Context for Hereditary Lymphedema I

Publications for Hereditary Lymphedema I

Articles related to Hereditary Lymphedema I:

# Title Authors PMID Year
1
Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema. 38
18719607 2009
2
Prenatal ultrasonographic diagnosis of atypical Nonne-Milroy lymphedema. 38
12528167 2003
3
Prenatal diagnosis of Nonne-Milroy lymphedema. 38
11547763 2001

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

Cellular components related to Hereditary Lymphedema I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ESC/E(Z) complex GO:0035098 8.62 PHF19 MTF2

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

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.33 TSPO GNRH1 DLD
2 lung alveolus development GO:0048286 9.32 FLT4 EDN2
3 response to testosterone GO:0033574 9.26 TSPO GNRH1
4 stem cell differentiation GO:0048863 8.96 PHF19 MTF2
5 positive regulation of histone H3-K27 methylation GO:0061087 8.62 PHF19 MTF2

Molecular functions related to Hereditary Lymphedema I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleosome binding GO:0031491 8.96 PHF19 MTF2
2 hormone activity GO:0005179 8.8 VIP GNRH1 EDN2

Sources for Hereditary Lymphedema I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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