MCID: HRD100
MIFTS: 24

Hereditary Lymphedema Ic

Categories: 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 balo concentric sclerosis. 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 Myometrial Relaxation and Contraction Pathways. Related phenotypes are cardiovascular system and embryo

Related Diseases for Hereditary Lymphedema Ic

Diseases in the Primary Lymphedema family:

Hereditary Lymphedema Hereditary Lymphedema Ic
Hereditary Lymphedema Id Hereditary Lymphedema Ia
Hereditary Lymphedema Ib Hereditary Lymphedema I
Hereditary Lymphedema Ii Congenital 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 68)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 3 11.5
2 balo concentric sclerosis 10.2 GJC2 GJB1
3 cataract 30, multiple types 10.2 GJA8 GJA3
4 early-onset nuclear cataract 10.1 GJA8 GJA3
5 1q21.1 recurrent microdeletion 10.1 GJA8 GJA5
6 cataract 1, multiple types 10.1 GJA8 GJA3
7 cataract 14, multiple types 10.1 GJA8 GJA3
8 charcot-marie-tooth disease type x 10.1 GJC2 GJB1
9 nonsyndromic hearing loss and deafness, dfnb1 10.1 GJB3 GJB2
10 dfnb1 10.0 GJB3 GJB2
11 charcot-marie-tooth disease, x-linked dominant, 1 10.0 GJC2 GJB1
12 deafness, autosomal dominant 2b 10.0 GJB3 GJB2
13 deafness, autosomal dominant 3b 10.0 GJB3 GJB2
14 drug-induced hearing loss 10.0 GJB3 GJB2
15 deafness, autosomal recessive 91 10.0 GJB3 GJB2
16 deafness, autosomal dominant 2a 10.0 GJB3 GJB2
17 deafness, autosomal dominant 9 10.0 GJB3 GJB2
18 x-linked charcot-marie-tooth disease 9.9 GJB2 GJB1
19 craniometaphyseal dysplasia, autosomal dominant 9.9 GJC1 GJA3 GJA1
20 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.9 GJB2 GJA1
21 x-linked nonsyndromic deafness 9.9 GJB3 GJB2
22 vestibular disease 9.9 GJB3 GJB2
23 hypotrichosis-deafness syndrome 9.8 GJB4 GJB3 GJB2
24 atrial standstill 9.8 SCN5A GJA5
25 deafness, autosomal dominant 3a 9.8 GJB4 GJB3 GJB2
26 vohwinkel syndrome 9.8 GJB4 GJB3 GJB2
27 atrioventricular septal defect 9.8 GJC1 GJA5 GJA1
28 nevus, epidermal 9.8 GJB4 GJB3 GJB2
29 deafness, autosomal recessive 1b 9.8 GJB3 GJB2 GJA3
30 pelizaeus-merzbacher-like disease 9.8 GJC2 GJB1 GJA1
31 deafness, x-linked 2 9.8 GJB3 GJB2
32 progressive familial heart block, type ia 9.8 SCN5A GJA5
33 progressive familial heart block 9.8 SCN5A GJA5
34 third-degree atrioventricular block 9.7 SCN5A GJA5
35 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 GJB3 GJB2
36 hallermann-streiff syndrome 9.7 GJC2 GJC1 GJA3 GJA1
37 ebstein anomaly 9.7 SCN5A GJA5
38 palmoplantar keratoderma, epidermolytic 9.7 GJB3 GJB2
39 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB3 GJB2 GJA1
40 deafness, autosomal recessive 1a 9.6 GJB4 GJB3 GJB2 GJA3
41 leukodystrophy 9.6 GJC2 GJB1 GJA3 GJA1
42 myasthenic syndrome, congenital, 5 9.5 SCN5A GJA5 GJA1
43 heart conduction disease 9.5 SCN5A GJA5 GJA1
44 pseudoainhum 9.5 GJB4 GJB3 GJB2 GJA1
45 palmoplantar keratoderma and congenital alopecia 1 9.5 GJB4 GJB3 GJB2 GJA1
46 erythrokeratoderma 9.5 GJB4 GJB3 GJB2 GJA1
47 knuckle pads 9.5 GJB4 GJB3 GJB2 GJA1
48 hypotrichosis 9.5 GJB4 GJB3 GJB2 GJA1
49 atrial heart septal defect 9.4 SCN5A GJA5 GJA1
50 palmoplantar keratosis 9.4 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
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4
2 embryo MP:0005380 9.63 GJA1 GJA8 GJB2 GJB3 GJC1 SCN5A
3 no phenotypic analysis MP:0003012 9.35 GJA1 GJA5 GJB2 GJB3 GJC1
4 vision/eye MP:0005391 9.17 GJA1 GJA3 GJA8 GJB1 GJB2 GJC1

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

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
12.34 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
3
Show member pathways
12.27 GJC1 GJB3 GJB2 GJB1 GJA8 GJA5
4
Show member pathways
12.23 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2
5
Show member pathways
11.65 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
6 11.33 SCN5A GJA5 GJA1
7 10.94 GJA5 GJA1
8
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 membrane GO:0016020 10.17 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2
2 integral component of membrane GO:0016021 10.11 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2
3 plasma membrane GO:0005886 10.06 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2
4 integral component of plasma membrane GO:0005887 9.93 GJB4 GJB2 GJA8 GJA5 GJA3 GJA1
5 cell junction GO:0030054 9.85 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
6 connexin complex GO:0005922 9.65 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
7 lateral plasma membrane GO:0016328 9.58 SCN5A GJB2 GJB1
8 intercalated disc GO:0014704 9.56 SCN5A GJC1 GJA5 GJA1
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 28)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.85 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
2 ion transmembrane transport GO:0034220 9.81 SCN5A GJC1 GJA1
3 heart development GO:0007507 9.8 GJC1 GJA5 GJA1
4 cell communication by electrical coupling GO:0010644 9.67 GJC2 GJB2 GJA5 GJA1
5 gap junction assembly GO:0016264 9.65 GJC1 GJB2 GJB1 GJA5 GJA1
6 cell communication GO:0007154 9.65 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
7 cardiac conduction GO:0061337 9.63 SCN5A GJA5
8 response to retinoic acid GO:0032526 9.63 GJB2 GJA1
9 regulation of heart rate by cardiac conduction GO:0086091 9.62 SCN5A GJA5
10 gap junction-mediated intercellular transport GO:1990349 9.62 GJB4 GJB2 GJA8 GJA3
11 positive regulation of vasoconstriction GO:0045907 9.61 GJA5 GJA1
12 decidualization GO:0046697 9.61 GJB2 GJA1
13 atrial cardiac muscle cell action potential GO:0086014 9.61 SCN5A GJC1 GJA1
14 positive regulation of blood vessel diameter GO:0097755 9.6 GJA5 GJA1
15 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.59 SCN5A GJA5
16 ventricular cardiac muscle cell action potential GO:0086005 9.58 SCN5A GJA5
17 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 GJA5 GJA1
18 epididymis development GO:1905867 9.58 GJB2 GJB1 GJA1
19 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.57 SCN5A GJA5
20 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.56 SCN5A GJA5
21 regulation of cell communication by electrical coupling GO:0010649 9.55 GJA5 GJA1
22 SA node cell action potential GO:0086015 9.54 SCN5A GJA5
23 endothelium development GO:0003158 9.52 GJA5 GJA1
24 AV node cell to bundle of His cell communication GO:0086067 9.51 SCN5A GJA5
25 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.49 GJC1 GJA5
26 SA node cell to atrial cardiac muscle cell communication by electrical coupling GO:0086021 9.48 GJC1 GJA5
27 positive regulation of cell communication by chemical coupling GO:0010652 9.46 GJA5 GJA1
28 transmembrane transport GO:0055085 9.36 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 disordered domain specific binding GO:0097718 9.43 GJA5 GJA1
2 connexin binding GO:0071253 9.4 GJA5 GJA1
3 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.37 GJC1 GJA5
4 gap junction hemi-channel activity GO:0055077 9.33 GJA5 GJA3 GJA1
5 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.32 GJA5 GJA1
6 gap junction channel activity GO:0005243 9.32 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
7 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling GO:0086020 9.26 GJC1 GJA5
8 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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