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MCID: HRD100
MIFTS: 29

Hereditary Lymphedema Ic

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
Genes Variations Related diseases Publications Pathways
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Aliases & Classifications for Hereditary Lymphedema Ic

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MalaCards integrated aliases for Hereditary Lymphedema Ic:

Name: Hereditary Lymphedema Ic 12 15
Lymphedema, Hereditary, Ic 6 70
Lymphedema, Hereditary, Type Ic 39
Lmph1c 12

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Immune diseases Cardiovascular diseases Skin diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0070208
UMLS 70 C3150732
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Summaries for Hereditary Lymphedema Ic

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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, ic, is related to lymphatic malformation 3 and 1q21.1 recurrent microdeletion. 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. Related phenotypes are cardiovascular system and growth/size/body region

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Related Diseases for Hereditary Lymphedema Ic

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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 65)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 3 11.2
2 1q21.1 recurrent microdeletion 10.1 GJA8 GJA5
3 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.1 GJB4 GJB3
4 ainhum 10.1 GJB4 GJB2
5 charcot-marie-tooth disease type x 10.1 GJC2 GJB1
6 spastic paraplegia 44, autosomal recessive 10.1 GJC2 GJB1
7 charcot-marie-tooth disease, x-linked dominant, 1 10.1 GJC2 GJB1
8 nonsyndromic hearing loss and deafness, dfnb1 10.0 GJB3 GJB2
9 dfnb1 10.0 GJB3 GJB2
10 deafness, autosomal dominant 3b 10.0 GJB3 GJB2
11 deafness, autosomal dominant 2b 10.0 GJB3 GJB2
12 drug-induced hearing loss 10.0 GJB3 GJB2
13 deafness, autosomal recessive 91 10.0 GJB3 GJB2
14 syndactyly, type iii 10.0 GJC1 GJA1
15 deafness, autosomal dominant 2a 10.0 GJB3 GJB2
16 deafness, autosomal recessive 1b 10.0 GJB3 GJB2
17 vestibular disease 10.0 GJB3 GJB2
18 x-linked charcot-marie-tooth disease 10.0 GJB2 GJB1
19 x-linked nonsyndromic deafness 10.0 GJB3 GJB2
20 deafness, autosomal dominant 9 10.0 GJB3 GJB2
21 hereditary hearing loss and deafness 9.9 GJB3 GJB2
22 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.9 GJB2 GJA1
23 deafness, x-linked 2 9.9 GJB3 GJB2
24 hypotrichosis-deafness syndrome 9.9 GJB4 GJB3 GJB2
25 craniometaphyseal dysplasia, autosomal dominant 9.9 GJC1 GJA1
26 deafness, autosomal dominant 3a 9.9 GJB4 GJB3 GJB2
27 deafness, autosomal recessive 1a 9.9 GJB4 GJB3 GJB2
28 nevus, epidermal 9.9 GJB4 GJB3 GJB2
29 pelizaeus-merzbacher-like disease 9.9 GJC2 GJB1 GJA1
30 progressive familial heart block, type ia 9.9 SCN5A GJA5
31 atrial standstill 9.9 SCN5A GJA5
32 atrioventricular septal defect 9.8 GJC1 GJA5 GJA1
33 third-degree atrioventricular block 9.8 SCN5A GJA5
34 keratosis 9.8 GJB3 GJB2 GJA1
35 ebstein anomaly 9.8 SCN5A GJA5
36 hallermann-streiff syndrome 9.7 GJC2 GJC1 GJB1 GJA1
37 deafness, autosomal recessive 12 9.7 GJB3 GJB2
38 jervell and lange-nielsen syndrome 1 9.6 SCN5A GJB2
39 atrial fibrillation 9.6 SCN5A GJA5 GJA1
40 pseudoainhum 9.6 GJB4 GJB3 GJB2 GJA1
41 erythrokeratoderma 9.6 GJB4 GJB3 GJB2 GJA1
42 myasthenic syndrome, congenital, 5 9.6 SCN5A GJA5 GJA1
43 sick sinus syndrome 9.6 SCN5A GJA5
44 knuckle pads 9.6 GJB4 GJB3 GJB2 GJA1
45 atrioventricular block 9.6 SCN5A GJA5 GJA1
46 hypotrichosis 9.6 GJB4 GJB3 GJB2 GJA1
47 vohwinkel syndrome 9.6 GJB4 GJB3 GJB2 GJA1
48 palmoplantar keratosis 9.6 GJB4 GJB3 GJB2 GJA1
49 atrial heart septal defect 9.6 SCN5A GJA5 GJA1
50 ectodermal dysplasia 9.6 GJB4 GJB3 GJB2 GJA1

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



Diseases related to Hereditary Lymphedema Ic
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Symptoms & Phenotypes for Hereditary Lymphedema Ic

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MGI Mouse Phenotypes related to Hereditary Lymphedema Ic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 GJA1 GJA5 GJA8 GJB2 GJB3 GJC1
2 growth/size/body region MP:0005378 9.97 GJA1 GJA8 GJB1 GJB2 GJB3 GJB4
3 embryo MP:0005380 9.88 GJA1 GJA8 GJB2 GJB3 GJC1 SCN5A
4 hematopoietic system MP:0005397 9.87 GJA1 GJA5 GJB1 GJB3 GJB4 GJC1
5 immune system MP:0005387 9.8 GJA1 GJA5 GJB1 GJB2 GJB3 GJB4
6 mortality/aging MP:0010768 9.76 GJA1 GJA5 GJB1 GJB2 GJB3 GJC1
7 no phenotypic analysis MP:0003012 9.35 GJA1 GJA5 GJB2 GJB3 GJC1
8 vision/eye MP:0005391 9.1 GJA1 GJA8 GJB1 GJB2 GJC1 GJC2
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Drugs & Therapeutics for Hereditary Lymphedema Ic

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Search Clinical Trials , NIH Clinical Center for Hereditary Lymphedema Ic

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Genetic Tests for Hereditary Lymphedema Ic

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Anatomical Context for Hereditary Lymphedema Ic

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Publications for Hereditary Lymphedema Ic

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Articles related to Hereditary Lymphedema Ic:

# Title Authors PMID Year
1
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. 6
21266381 2011
2
GJC2 missense mutations cause human lymphedema. 6
20537300 2010
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Variations for Hereditary Lymphedema Ic

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ClinVar genetic disease variations for Hereditary Lymphedema Ic:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJC2 NM_020435.4(GJC2):c.143C>T (p.Ser48Leu) SNV Pathogenic 2079 rs267606847 GRCh37: 1:228345602-228345602
GRCh38: 1:228157901-228157901
2 GJC2 NM_020435.4(GJC2):c.778C>T (p.Arg260Cys) SNV Pathogenic 2080 rs267606846 GRCh37: 1:228346237-228346237
GRCh38: 1:228158536-228158536
3 GJC2 NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) SNV Uncertain significance 445910 rs200334298 GRCh37: 1:228346693-228346693
GRCh38: 1:228158992-228158992
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Expression for Hereditary Lymphedema Ic

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

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

# Super pathways Score Top Affiliating Genes
1
Vesicle-mediated transport 65
Show member pathways
 13.08 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
2
G-Beta Gamma Signaling 63
Show member pathways
 12.73 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2
3
Development Slit-Robo signaling 23
Show member pathways
 12.21 GJC1 GJB3 GJB2 GJB1 GJA8 GJA5
4
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.1 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
5
Antiarrhythmic Pathway, Pharmacodynamics 60
11.33 SCN5A GJA5 GJA1
6
Gap junction trafficking 65
Show member pathways
 11.27 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
7
Cell adhesion_Endothelial cell contacts by junctional mechanisms 23
10.94 GJA5 GJA1
8
Oligomerization of connexins into connexons 65
Show member pathways
 10.5 GJB2 GJB1 GJA1
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GO Terms for Hereditary Lymphedema Ic

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.13 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2
2 integral component of membrane GO:0016021 10.07 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2
3 plasma membrane GO:0005886 10.02 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2
4 integral component of plasma membrane GO:0005887 9.85 GJB4 GJB2 GJA8 GJA5 GJA1
5 cell junction GO:0030054 9.81 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
6 connexin complex GO:0005922 9.61 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 9.28 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 SCN5A GJC2 GJC1 GJB4 GJB3 GJB2
2 ion transmembrane transport GO:0034220 9.77 SCN5A GJC1 GJA1
3 heart development GO:0007507 9.76 GJC1 GJA5 GJA1
4 gap junction assembly GO:0016264 9.65 GJC1 GJB2 GJB1 GJA5 GJA1
5 cell communication by electrical coupling GO:0010644 9.62 GJC2 GJB2 GJA5 GJA1
6 response to ischemia GO:0002931 9.61 GJB2 GJA1
7 atrial cardiac muscle cell action potential GO:0086014 9.61 SCN5A GJC1 GJA1
8 cell-cell signaling GO:0007267 9.61 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
9 response to retinoic acid GO:0032526 9.59 GJB2 GJA1
10 positive regulation of vasoconstriction GO:0045907 9.58 GJA5 GJA1
11 gap junction-mediated intercellular transport GO:1990349 9.58 GJB4 GJB2 GJA8
12 decidualization GO:0046697 9.57 GJB2 GJA1
13 positive regulation of blood vessel diameter GO:0097755 9.56 GJA5 GJA1
14 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.55 GJA5 GJA1
15 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.54 SCN5A GJA5
16 epididymis development GO:1905867 9.54 GJB2 GJB1 GJA1
17 regulation of cell communication by electrical coupling GO:0010649 9.52 GJA5 GJA1
18 endothelium development GO:0003158 9.51 GJA5 GJA1
19 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.49 GJC1 GJA5
20 SA node cell to atrial cardiac muscle cell communication by electrical coupling GO:0086021 9.48 GJC1 GJA5
21 positive regulation of cell communication by chemical coupling GO:0010652 9.46 GJA5 GJA1
22 cell communication GO:0007154 9.28 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 disordered domain specific binding GO:0097718 9.43 GJA5 GJA1
2 connexin binding GO:0071253 9.4 GJA5 GJA1
3 gap junction hemi-channel activity GO:0055077 9.37 GJA5 GJA1
4 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.32 GJC1 GJA5
5 gap junction channel activity GO:0005243 9.28 GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
6 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.26 GJA5 GJA1
7 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling GO:0086020 9.16 GJC1 GJA5
8 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.13 GJC2 GJB2 GJA1
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Sources for Hereditary Lymphedema Ic

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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