Hereditary Lymphedema Ic disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Immune diseases Cardiovascular diseases Skin diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070208

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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

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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:

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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

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Drugs & Therapeutics for Hereditary Lymphedema Ic

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

MalaCards organs/tissues related to Hereditary Lymphedema Ic:

⁴⁰

Heart, Skin, Breast

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Publications for Hereditary Lymphedema Ic

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Genes for Hereditary Lymphedema Ic

Genes related to Hereditary Lymphedema Ic (0 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GJC2	Gap Junction Protein Gamma 2	Protein Coding	7.43	DISEASES inferred ¹⁵
2	GATA2	GATA Binding Protein 2	Protein Coding	5.49	DISEASES inferred ¹⁵
3	GJB4	Gap Junction Protein Beta 4	Protein Coding	5.48	DISEASES inferred ¹⁵
4	GJA3	Gap Junction Protein Alpha 3	Protein Coding	5.26	DISEASES inferred ¹⁵
5	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	5.21	DISEASES inferred ¹⁵
6	GJC1	Gap Junction Protein Gamma 1	Protein Coding	4.96	DISEASES inferred ¹⁵
7	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	4.84	DISEASES inferred ¹⁵
8	GJB3	Gap Junction Protein Beta 3	Protein Coding	4.82	DISEASES inferred ¹⁵
9	KRT1	Keratin 1	Protein Coding	4.64	DISEASES inferred ¹⁵
10	GJA5	Gap Junction Protein Alpha 5	Protein Coding	4.57	DISEASES inferred ¹⁵
11	ATP2A2	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2	Protein Coding	4.57	DISEASES inferred ¹⁵
12	GJA8	Gap Junction Protein Alpha 8	Protein Coding	4.52	DISEASES inferred ¹⁵
13	GJB1	Gap Junction Protein Beta 1	Protein Coding	4.36	DISEASES inferred ¹⁵
14	GJB2	Gap Junction Protein Beta 2	Protein Coding	4.1	DISEASES inferred ¹⁵
15	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	3.97	DISEASES inferred ¹⁵
16	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	3.73	DISEASES inferred ¹⁵
17	GJA1	Gap Junction Protein Alpha 1	Protein Coding	3.73	DISEASES inferred ¹⁵
18	PDPN	Podoplanin	Protein Coding	3.71	DISEASES inferred ¹⁵
19	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	3.3	DISEASES inferred ¹⁵

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Variations for Hereditary Lymphedema Ic

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Expression for Hereditary Lymphedema Ic

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

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Pathways for Hereditary Lymphedema Ic

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 Membrane Trafficking ⁶⁵	13.13	GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
2	G-Beta Gamma Signaling ⁶³ Show member pathways CRHR Pathway ⁶³ GHRH Signaling ⁶³ Hedgehog Signaling in Mammals ⁶³ Relaxin Pathway ⁶³ Signaling in Gap Junctions ⁶³	12.8	SCN5A KRT1 GJC2 GJC1 GJB4 GJB3
3	Development Slit-Robo signaling ²² Show member pathways Cell adhesion Gap junctions ²² Neurophysiological process Receptor-mediated axon growth repulsion ²² Pathogenic Escherichia coli infection ¹	12.27	GJC1 GJB3 GJB2 GJB1 GJA8 GJA5
4	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁴ Show member pathways Akt Signaling Pathway ⁶⁴	11.94	RASGRP1 PIK3CA FLT4 FGFR3
5	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	11.85	GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
6	Gap junction trafficking ⁶⁵ Show member pathways Entry of Influenza Virion into Host Cell via Endocytosis ⁶⁵ Formation of annular gap junctions ⁶⁵ Gap junction assembly ⁶⁵ Gap junction degradation ⁶⁵ Gap junction trafficking and regulation ⁶⁵	11.65	GJC2 GJC1 GJB4 GJB3 GJB2 GJB1
7	Angiogenesis (CST) ⁴	11.56	PDPN FLT4 FGFR3
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.45	SCN5A GJA5 GJA1 ATP2A2
9	NOTCH1 regulation of human endothelial cell calcification ¹	10.73	GJA5 FGFR3
10	Oligomerization of connexins into connexons ⁶⁵ Show member pathways Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane ⁶⁵ Transport of connexins along the secretory pathway ⁶⁵ Transport of connexons to the plasma membrane ⁶⁵	10.5	GJB2 GJB1 GJA1

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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

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