MCID: HRD100
MIFTS: 28

Hereditary Lymphedema Ic

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

Aliases & Classifications for Hereditary Lymphedema Ic

MalaCards integrated aliases for Hereditary Lymphedema Ic:

Name: Hereditary Lymphedema Ic 12 15
Lymphedema, Hereditary, Type Ic 39
Lmph1c 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070208

Summaries for Hereditary Lymphedema Ic

Disease Ontology : 12 A hereditary lymphedema characterized by autosomal dominant inheritance that has material basis in mutation in the GJC2 gene on chromosome 1q42.

MalaCards based summary : Hereditary Lymphedema Ic, also known as lymphedema, hereditary, type ic, is related to lymphatic malformation 3 and lymphatic malformation 1. An important gene associated with Hereditary Lymphedema Ic is GJC2 (Gap Junction Protein Gamma 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include heart, skin and breast, and related phenotypes are cardiovascular system and growth/size/body region

Related Diseases for Hereditary Lymphedema Ic

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 Celsr1-Related Late-Onset Primary Lymphedema
Gjc2-Related Late-Onset Primary Lymphedema

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 3 11.5
2 lymphatic malformation 1 10.5 GJC2 FLT4
3 primary lymphedema 10.5 GJC2 FLT4
4 chylothorax, congenital 10.5 GJC2 FLT4
5 hereditary lymphedema ii 10.4 GJC2 FLT4
6 1q21.1 recurrent microdeletion 10.3 GJA8 GJA5
7 spinocerebellar ataxia 34 10.3 GJB4 GJB3
8 nonsyndromic hearing loss and deafness, dfnb1 10.3 GJB3 GJB2
9 cataract 30, multiple types 10.3 GJA8 GJA3
10 dfnb1 10.3 GJB3 GJB2
11 deafness, autosomal dominant 2b 10.2 GJB3 GJB2
12 deafness, autosomal dominant 3b 10.2 GJB3 GJB2
13 acrokeratosis verruciformis 10.2 KRT1 ATP2A2
14 spastic paraplegia 44, autosomal recessive 10.2 GJC2 GJB1
15 x-linked charcot-marie-tooth disease 10.2 GJB2 GJB1
16 atrial standstill 10.2 SCN5A GJA5
17 early-onset nuclear cataract 10.2 GJA8 GJA3
18 cataract 1, multiple types 10.2 GJA8 GJA3
19 hypotrichosis-deafness syndrome 10.2 GJB4 GJB3 GJB2
20 deafness, autosomal dominant 3a 10.2 GJB4 GJB3 GJB2
21 deafness, autosomal recessive 1b 10.2 GJB3 GJB2 GJA3
22 progressive familial heart block, type ia 10.1 SCN5A GJA5
23 deafness, autosomal recessive 91 10.1 GJB3 GJB2
24 breast sarcoma 10.1 PIK3CA FLT4
25 charcot-marie-tooth disease type x 10.1 GJC2 GJB1
26 orbital lymphangioma 10.0 PDPN FLT4
27 craniometaphyseal dysplasia, autosomal dominant 10.0 GJC1 GJA3 GJA1
28 deafness, autosomal recessive 1a 10.0 GJB4 GJB3 GJB2 GJA3
29 congenital lymphedema 10.0 PDPN FLT4
30 hobnail hemangioma 10.0 PDPN FLT4
31 lymphangiosarcoma 10.0 PDPN FLT4
32 dermatosis papulosa nigra 10.0 PIK3CA FGFR3
33 gorham's disease 10.0 PDPN FLT4
34 capillary lymphangioma 10.0 PDPN FLT4
35 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.0 GJB2 GJA1
36 pelizaeus-merzbacher-like disease 9.9 GJC2 GJB1 GJA1
37 atrioventricular septal defect 9.9 GJC1 GJA5 GJA1
38 second-degree atrioventricular block 9.9 SCN5A GJA1
39 lymphangitis 9.9 PDPN FLT4
40 deafness, autosomal dominant 4b 9.9 GJB3 GJB2
41 hallermann-streiff syndrome 9.9 GJC2 GJC1 GJA3 GJA1
42 cataract 14, multiple types 9.8 GJA8 GJA3
43 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.8 GJB3 GJB2 GJA1
44 first-degree atrioventricular block 9.8 SCN5A GJA5 GJA1
45 myasthenic syndrome, congenital, 5 9.8 SCN5A GJA5 GJA1
46 heart conduction disease 9.8 SCN5A GJA5 GJA1
47 wolff-parkinson-white syndrome 9.8 SCN5A GJA5 GJA1
48 knuckle pads 9.7 GJB4 GJB3 GJB2 GJA1
49 pseudoainhum 9.7 GJB4 GJB3 GJB2 GJA1
50 erythrokeratoderma 9.7 GJB4 GJB3 GJB2 GJA1

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



Diseases related to Hereditary Lymphedema Ic

Symptoms & Phenotypes for Hereditary Lymphedema Ic

MGI Mouse Phenotypes related to Hereditary Lymphedema Ic:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 ATP2A2 FLT4 GATA2 GJA1 GJA5 GJA8
2 growth/size/body region MP:0005378 10.32 ATP2A2 FGFR3 FLT4 GATA2 GJA1 GJA8
3 homeostasis/metabolism MP:0005376 10.32 ATP2A2 FGFR3 FLT4 GATA2 GJA1 GJA5
4 hematopoietic system MP:0005397 10.31 ATP2A2 FGFR3 GATA2 GJA1 GJA5 GJB1
5 immune system MP:0005387 10.3 ATP2A2 FGFR3 FLT4 GJA1 GJA5 GJB1
6 mortality/aging MP:0010768 10.28 ATP2A2 FGFR3 FLT4 GATA2 GJA1 GJA5
7 embryo MP:0005380 10.22 ATP2A2 FLT4 GATA2 GJA1 GJA8 GJB2
8 integument MP:0010771 10.09 ATP2A2 FGFR3 FLT4 GJA1 GJB2 GJB3
9 nervous system MP:0003631 10.06 ATP2A2 FGFR3 GATA2 GJA1 GJB1 GJB2
10 muscle MP:0005369 9.97 ATP2A2 FLT4 GJA1 GJA5 GJC1 PDPN
11 no phenotypic analysis MP:0003012 9.86 FGFR3 FLT4 GJA1 GJA5 GJB2 GJB3
12 normal MP:0002873 9.76 FGFR3 FLT4 GATA2 GJA1 GJA5 GJB2
13 reproductive system MP:0005389 9.65 ATP2A2 FGFR3 FLT4 GATA2 GJA1 GJA5
14 vision/eye MP:0005391 9.28 FGFR3 GJA1 GJA3 GJA8 GJB1 GJB2

Drugs & Therapeutics for Hereditary Lymphedema Ic

Search Clinical Trials , NIH Clinical Center for Hereditary Lymphedema Ic

Genetic Tests for Hereditary Lymphedema Ic

Anatomical Context for Hereditary Lymphedema Ic

MalaCards organs/tissues related to Hereditary Lymphedema Ic:

40
Heart, Skin, Breast

Publications for Hereditary Lymphedema Ic

Variations for Hereditary Lymphedema Ic

Expression for Hereditary Lymphedema Ic

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

Pathways for Hereditary Lymphedema Ic

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
2
Show member pathways
12.8 SCN5A KRT1 GJC2 GJC1 GJB4 GJB3
3
Show member pathways
12.27 GJC1 GJB3 GJB2 GJB1 GJA8 GJA5
4
Show member pathways
11.94 RASGRP1 PIK3CA FLT4 FGFR3
5
Show member pathways
11.85 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
6
Show member pathways
11.65 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
7 11.56 PDPN FLT4 FGFR3
8 11.45 SCN5A GJA5 GJA1 ATP2A2
9 10.73 GJA5 FGFR3
10
Show member pathways
10.5 GJB2 GJB1 GJA1

GO Terms for Hereditary Lymphedema Ic

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.31 SCN5A PDPN GJC2 GJC1 GJB4 GJB3
2 membrane GO:0016020 10.28 SCN5A RASGRP1 PIK3CA PDPN KRT1 GJC2
3 plasma membrane GO:0005886 10.19 SCN5A RASGRP1 PIK3CA PDPN KRT1 GJC2
4 integral component of plasma membrane GO:0005887 10.07 PDPN GJB4 GJB2 GJA8 GJA5 GJA3
5 cell junction GO:0030054 9.9 PDPN GJC2 GJC1 GJB4 GJB3 GJB2
6 intercalated disc GO:0014704 9.71 SCN5A GJC1 GJA5 GJA1
7 connexin complex GO:0005922 9.65 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
8 lateral plasma membrane GO:0016328 9.63 SCN5A GJB2 GJB1
9 gap junction GO:0005921 9.32 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.9 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2
2 ion transmembrane transport GO:0034220 9.89 SCN5A GJC1 GJA1 ATP2A2
3 cell-cell signaling GO:0007267 9.86 GJC2 GJC1 GJB4 GJB2 GJB1 GJA8
4 protein complex oligomerization GO:0051259 9.76 RASGRP1 GJB1 GJA5 GJA1
5 cell communication by electrical coupling GO:0010644 9.67 GJC2 GJB2 GJA5 GJA1
6 gap junction-mediated intercellular transport GO:1990349 9.62 GJB4 GJB2 GJA8 GJA3
7 atrial cardiac muscle cell action potential GO:0086014 9.61 SCN5A GJC1 GJA1
8 ventricular cardiac muscle cell action potential GO:0086005 9.6 SCN5A GJA5
9 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 GJA5 GJA1
10 lymphangiogenesis GO:0001946 9.58 PDPN FLT4
11 epididymis development GO:1905867 9.58 GJB2 GJB1 GJA1
12 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.57 SCN5A GJA5
13 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.56 SCN5A GJA5
14 SA node cell action potential GO:0086015 9.55 SCN5A GJA5
15 endothelium development GO:0003158 9.54 GJA5 GJA1
16 AV node cell to bundle of His cell communication GO:0086067 9.52 SCN5A GJA5
17 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.51 GJC1 GJA5
18 SA node cell to atrial cardiac muscle cell communication by electrical coupling GO:0086021 9.49 GJC1 GJA5
19 positive regulation of cell communication by chemical coupling GO:0010652 9.48 GJA5 GJA1
20 gap junction assembly GO:0016264 9.35 GJC1 GJB2 GJB1 GJA5 GJA1
21 cell communication GO:0007154 9.32 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1

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

# Name GO ID Score Top Affiliating Genes
1 connexin binding GO:0071253 9.4 GJA5 GJA1
2 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.37 GJC1 GJA5
3 gap junction hemi-channel activity GO:0055077 9.33 GJA5 GJA3 GJA1
4 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.32 GJA5 GJA1
5 gap junction channel activity GO:0005243 9.28 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
6 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling GO:0086020 9.26 GJC1 GJA5
7 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.13 GJC2 GJB2 GJA1

Sources for Hereditary Lymphedema Ic

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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