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 74
Nonne-Milroy Lymphedema 12
Milroy Disease 12
Lmph1 12
Pcl 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070212
UMLS 71 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 suppression of tumorigenicity 12. An important gene associated with Hereditary Lymphedema I is H2AC18 (H2A Clustered Histone 18), and among its related pathways/superpathways is Interactome of polycomb repressive complex 2 (PRC2).

Wikipedia : 74 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 151)
# Related Disease Score Top Affiliating Genes
1 hereditary lymphedema 30.5 VIP TSPO SEC62 PRDM10 PHF19 PHF1
2 suppression of tumorigenicity 12 30.4 PRDM10 KDM4C H2AC18 GNRH1
3 lymphatic malformation 1 12.4
4 obsolete: congenital primary lymphedema 12.3
5 plasma cell leukemia 12.3
6 congenital lymphedema 11.7
7 lymphedema 10.7
8 hypotrichosis 1 10.5 PRDM10 KDM4C H2AC18
9 primary polycythemia 10.5 KDM4C IL3 H2AC18
10 bile duct adenocarcinoma 10.5 MIR150 KDM4C H2AC18
11 fetal alcohol syndrome 10.5 VIP KDM4C H2AC18
12 infiltrating angiolipoma 10.5 GNRH1 EDN2
13 bile duct disease 10.5 MIR150 KDM4C H2AC18
14 hair disease 10.4 PRDM10 KDM4C H2AC18
15 amelogenesis imperfecta, type ig 10.4 PRDM10 H2AC18 GNRH1
16 testicular disease 10.4 KDM4C H2AC18 GNRH1
17 weaver syndrome 10.4 KDM4C H2AC18 AEBP2
18 hydrops, lactic acidosis, and sideroblastic anemia 10.4
19 lymphatic system disease 10.4 MIR150 KDM4C H2AC18 FLT4
20 autosomal genetic disease 10.4 PRDM10 MIR150 KDM4C H2AC18
21 biliary tract disease 10.4 MIR150 KDM4C H2AC18
22 personality disorder 10.4
23 pontocerebellar hypoplasia 10.4 PCLO KDM4C H2AC18
24 hypotrichosis 10.4 PRDM10 KDM4C H2AC18 FLT4
25 glioblastoma multiforme 10.3
26 kabuki syndrome 1 10.3 PRDM10 KDM4C H2AC18
27 bone marrow cancer 10.3 KDM4C IL3 H2AC18
28 glioma 10.3
29 glial tumor 10.3
30 specific developmental disorder 10.3 PRDM10 KDM4C H2AC18
31 autonomic nervous system neoplasm 10.3 PRDM10 KDM4C H2AC18
32 cellulitis 10.3
33 primary lymphedema 10.3
34 peripheral nervous system neoplasm 10.2 PRDM10 KDM4C H2AC18
35 chudley-mccullough syndrome 10.2
36 post-traumatic stress disorder 10.2
37 acute stress disorder 10.2
38 spinal cord injury 10.2
39 antisocial personality disorder 10.2
40 avoidant personality disorder 10.2
41 severe combined immunodeficiency 10.2
42 contractures, pterygia, and variable skeletal fusions syndrome 1a 10.2 PRDM10 KDM4C H2AC18
43 papilloma 10.1
44 elephantiasis 10.1
45 hydrocele 10.1
46 colorectal cancer 10.1
47 hepatocellular carcinoma 10.1
48 osteogenic sarcoma 10.1
49 gastric cancer 10.1
50 neurofibromatosis, type ii 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

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. 61
18719607 2009
2
Prenatal ultrasonographic diagnosis of atypical Nonne-Milroy lymphedema. 61
12528167 2003
3
Prenatal diagnosis of Nonne-Milroy lymphedema. 61
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 COSM84061323 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

Pathways related to Hereditary Lymphedema I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.85 MTF2 AEBP2

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 8.92 PHF19 PHF1 MTF2 AEBP2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.77 VIP KDM4C IL3 FLT4 EDN2
2 chromatin organization GO:0006325 9.63 PHF19 PHF1 MTF2 KDM4C H2AC18 AEBP2
3 stem cell population maintenance GO:0019827 9.5 PHF19 MTF2 KDM4C
4 negative regulation of histone H3-K27 methylation GO:0061086 9.26 PHF1 MTF2
5 negative regulation of gene expression, epigenetic GO:0045814 9.26 PHF19 PHF1 MTF2 AEBP2
6 positive regulation of histone H3-K27 methylation GO:0061087 8.8 PHF19 PHF1 MTF2

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.33 VIP GNRH1 EDN2
2 methylated histone binding GO:0035064 9.13 PHF19 PHF1 MTF2
3 nucleosome binding GO:0031491 8.8 PHF19 PHF1 MTF2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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