MCID: HRD204
MIFTS: 23

Hereditary Lymphedema Ia

Categories: Blood diseases, Cancer diseases, 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 15
Lymphedema, Hereditary, Type Ia 39
Lmph1a 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070210

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 and lymphedema. An important gene associated with Hereditary Lymphedema Ia is GJC2 (Gap Junction Protein Gamma 2), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Pathways in cancer. Related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Related Diseases for Hereditary Lymphedema Ia

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 Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 1 32.7 GJC2 FLT4
2 lymphedema 10.3 GATA2 FLT4
3 primary lymphedema 10.3 GJC2 FLT4
4 chylothorax, congenital 10.3 GJC2 FLT4
5 hereditary lymphedema ii 10.3 GJC2 FLT4
6 hennekam syndrome 10.2 GJC2 FLT4
7 acrokeratosis verruciformis 10.1 KRT1 ATP2A2
8 orbital lymphangioma 10.1 PDPN FLT4
9 congenital lymphedema 10.0 PDPN FLT4
10 hobnail hemangioma 10.0 PDPN FLT4
11 lymphangiosarcoma 10.0 PDPN FLT4
12 gorham's disease 10.0 PDPN FLT4
13 capillary lymphangioma 10.0 PDPN FLT4
14 lymphangitis 10.0 PDPN FLT4
15 skin papilloma 10.0 MAP2K7 KRT1
16 capillary hemangioma 9.9 PDPN FLT4
17 erythrokeratodermia variabilis et progressiva 1 9.9 KRT1 GJC2
18 cardiovascular cancer 9.8 PDPN FLT4
19 breast sarcoma 9.8 PIK3CA FLT4
20 dacryocystocele 9.8 PDPN FGFR3
21 chronic inflammation of lacrimal passage 9.8 PDPN FGFR3
22 klippel-trenaunay-weber syndrome 9.7 PIK3CA FLT4
23 dermatosis papulosa nigra 9.7 PIK3CA FGFR3
24 keratosis, seborrheic 9.6 PIK3CA FGFR3
25 cardiovascular organ benign neoplasm 9.5 PDPN FLT4
26 proteus syndrome 9.5 PIK3CA FGFR3
27 nevus, epidermal 9.5 PIK3CA KRT1 FGFR3
28 lymphangioma 9.4 PIK3CA PDPN FLT4
29 renal cell carcinoma, papillary, 1 9.2 PIK3CA PDPN FGFR3
30 suppression of tumorigenicity 12 9.2 PIK3CA PDPN MAP2K7
31 keratosis 9.1 PIK3CA KRT1 FGFR3 ATP2A2
32 lung cancer susceptibility 3 8.9 PIK3CA MAP2K7 FLT4 FGFR3
33 hereditary lymphedema ic 7.6 RASGRP1 PIK3CA PDPN KRT1 GJC2 GATA2

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



Diseases related to Hereditary Lymphedema Ia

Symptoms & Phenotypes for Hereditary Lymphedema Ia

GenomeRNAi Phenotypes related to Hereditary Lymphedema Ia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.02 FLT4
2 Decreased substrate adherent cell growth GR00193-A-2 9.02 MAP2K7
3 Decreased substrate adherent cell growth GR00193-A-3 9.02 FGFR3 FLT4 MAP2K7

MGI Mouse Phenotypes related to Hereditary Lymphedema Ia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ATP2A2 FGFR3 FLT4 GATA2 KRT1 MAP2K7
2 hematopoietic system MP:0005397 9.95 ATP2A2 FGFR3 GATA2 GJC2 KRT1 PDPN
3 immune system MP:0005387 9.92 ATP2A2 FGFR3 FLT4 GJC2 KRT1 PDPN
4 mortality/aging MP:0010768 9.81 ATP2A2 FGFR3 FLT4 GATA2 GJC2 KRT1
5 integument MP:0010771 9.8 ATP2A2 FGFR3 FLT4 KRT1 MAP2K7 PDPN
6 nervous system MP:0003631 9.5 ATP2A2 FGFR3 GATA2 GJC2 KRT1 MAP2K7
7 reproductive system MP:0005389 9.1 ATP2A2 FGFR3 FLT4 GATA2 MAP2K7 PIK3CA

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

Publications for Hereditary Lymphedema Ia

Variations for Hereditary Lymphedema Ia

Expression for Hereditary Lymphedema Ia

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

Pathways for Hereditary Lymphedema Ia

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 RASGRP1 PIK3CA PDPN GATA2 ATP2A2
2 12.39 RASGRP1 PIK3CA FLT4 FGFR3
3 12.23 RASGRP1 MAP2K7 FLT4 FGFR3
4
Show member pathways
12.19 PIK3CA FLT4 FGFR3
5
Show member pathways
12.12 PIK3CA FLT4 FGFR3
6
Show member pathways
12.1 RASGRP1 PIK3CA FLT4 FGFR3
7
Show member pathways
12.06 PIK3CA MAP2K7 FGFR3
8
Show member pathways
11.92 PIK3CA MAP2K7 FLT4 FGFR3
9 11.17 FLT4 FGFR3
10
Show member pathways
11.11 RASGRP1 PIK3CA FLT4 FGFR3
11 11.08 PDPN FLT4 FGFR3
12 10.96 PIK3CA MAP2K7
13 10.89 RASGRP1 PIK3CA
14 10.77 PIK3CA FLT4
15 9.99 RASGRP1 PIK3CA

GO Terms for Hereditary Lymphedema Ia

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.67 PIK3CA MAP2K7 FLT4 FGFR3
2 protein phosphorylation GO:0006468 9.62 PIK3CA MAP2K7 FLT4 FGFR3
3 peptidyl-tyrosine phosphorylation GO:0018108 9.33 MAP2K7 FLT4 FGFR3
4 vasculature development GO:0001944 9.26 PIK3CA FLT4
5 lymphangiogenesis GO:0001946 8.96 PDPN FLT4
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 8.92 RASGRP1 MAP2K7 FLT4 FGFR3

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.55 PIK3CA MAP2K7 FLT4 FGFR3 ATP2A2
2 kinase activity GO:0016301 9.26 PIK3CA MAP2K7 FLT4 FGFR3
3 protein tyrosine kinase activity GO:0004713 8.8 MAP2K7 FLT4 FGFR3

Sources for Hereditary Lymphedema Ia

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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