Double Outlet Right Ventricle malady

Wikipedia: Double outlet right ventricle (DORV) is a form of congenital heart disease where both of the great...⁴⁴ more...

MalaCards: Double Outlet Right Ventricle, also known as double-outlet right ventricle, is related to neural tube defect and congenital heart defect. An important gene associated with Double Outlet Right Ventricle is HTX2 (heterotaxy 2 (autosomal dominant)), and among its related pathways are HOP Signaling and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include heart and thyroid, and related mouse phenotypes are digestive/alimentary and skeleton.

OMIM: 217095

Aliases & Descriptions:

double outlet right ventricle 6 30 8 double-outlet right ventricle 7 33 double outlet right ventricle with subpulmonary ventricular septal defect 6 double outlet right ventricle, unspecified (disorder) 6 thyroid hormone plasma membrane transport defect 43 double outlet right ventricle nos (disorder) 6

double outlet right ventricle (disorder) 6 dextrotransposition of aorta (disorder) 6 taussig-bing syndrome 6 binge eating disorder 43 defect 6

Diseases related to double outlet right ventricle by text searches and GeneDecks gene sharing:

(show top 50)    (show all 1504)

id	Related Disease	Score	Top Affiliating Genes
1	neural tube defect	33.7	VANGL2, DVL1, DVL2
2	congenital heart defect	32.4	GATA4, NKX2-5, PITX2, TBX1
3	ventricular septal defect	31.7	NKX2-5, GATA4
4	atrial heart septal defect	30.4	GATA4, NKX2-5
5	transposition of great arteries	30.3	GDF1, CFC1, HTX2, PITX2, NKX2-5, NKX2-6
6	heart septal defect	29.6	NKX2-5, GATA4
7	atrioventricular septal defect	28.6	LIMS1, TBX1, NKX2-5, GATA6, GATA4
8	heterotaxy	27.7	CFC1, HTX2
9	tetralogy of fallot	26.1	GDF1, GATA4, GATA6, NKX2-5, TBX1, CFC1
10	holt-oram syndrome	25.8	TBX1, NKX2-5
11	digeorge syndrome	25.3	NKX2-6, DVL1, TBX1
12	situs ambiguus	24.9	HTX2, CFC1
13	hernia	24.6	ZFPM2, GATA6, GATA4
14	conotruncal heart malformations	24.2	GDF1, NKX2-6, TBX1, CFC1
15	situs inversus	24.0	CFC1, PITX2, GDF1
16	pharyngitis	22.8	NKX2-6, NKX2-5, PLXNA2, TBX1, ISL1, UNCX
17	transposition of the great arteries, dextro-looped 2	13.4	HTX2, CFC1
18	cfc1-related visceral heterotaxy	13.4	HTX2, CFC1
19	congenital heart block	13.1	GATA4, NKX2-5
20	ovarian germ cell tumor	12.8	GATA4, GATA6
21	endodermal sinus tumor	12.6	GATA6, GATA4
22	cerebellar hypoplasia	12.6	TBX1, PITX2, NKX2-5
23	ebstein anomaly	12.6	GATA4, NKX2-5, TBX1, LIMS1
24	megakaryoblastic leukemia	12.3	MKL2, MYOCD, MYL12B
25	eating disorder	11.2
26	bulimia nervosa	10.0
27	immunodeficiency	9.1
28	neuronitis	8.6
29	carcinoma	8.6
30	fibrosis	8.5
31	leukemia	8.4
32	cystic fibrosis	8.3
33	cor triatriatum	8.2
34	beemer ertbruggen syndrome	8.2
35	defective apolipoprotein b-100	8.1
36	anemia	8.1
37	thyroiditis	8.1
38	cholesterol	8.0
39	birth defects	8.0
40	cardiomyopathy	7.9
41	insulin resistance	7.9
42	muscular dystrophy	7.9
43	hypercholesterolemia	7.8
44	ataxia	7.6
45	lupus erythematosus	7.5
46	systemic lupus erythematosus	7.5
47	breast cancer	7.5
48	colorectal cancer	7.4
49	diabetes mellitus	7.4
50	myopathy	7.4

Clinical features from OMIM: 217095

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to double outlet right ventricle:

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MGI Mouse Phenotypes related to double outlet right ventricle:

²⁵ (show all 15)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary phenotype	MP:0005381	8.4	GATA4, PITX2, TBX1, ISL1, CFC1, VANGL2
2	skeleton phenotype	MP:0005390	8.0	GDF1, DVL2, DVL1, PITX2, TBX1, ISL1
3	no phenotypic analysis	MP:0003012	7.8	GATA4, NKX2-5, PITX2, TBX1, ISL1, ZFPM2
4	craniofacial phenotype	MP:0005382	7.7	GDF1, NKX2-5, DVL2, PITX2, TBX1, ISL1
5	nervous system phenotype	MP:0003631	6.4	GDF1, GATA4, DVL2, DVL1, PITX2, PLXNA2
6	respiratory system phenotype	MP:0005388	INF	NKX2-5, NKX2-6, , GATA4, GDF1, PITX2
7	mortality/aging	MP:0010768	INF	PITX2, DVL1, DVL2, NKX2-5, NKX2-6,
8	muscle phenotype	MP:0005369	INF	GATA4, , NKX2-5, PITX2, TBX1, ISL1
9	normal phenotype	MP:0002873	INF	DVL2, NKX2-5, NKX2-6, , GATA4, GDF1
10	cardiovascular system phenotype	MP:0005385	INF	VANGL2, GDF1, GATA4, , NKX2-6, NKX2-5
11	homeostasis/metabolism phenotype	MP:0005376	INF	DVL2, NKX2-5, NKX2-6, , GATA4, PITX2
12	growth/size phenotype	MP:0005378	INF	PITX2, DVL2, NKX2-5, NKX2-6, , GATA4
13	cellular phenotype	MP:0005384	INF	NKX2-5, NKX2-6, , GATA4, PITX2, PLXNA2
14	liver/biliary system phenotype	MP:0005370	INF	GDF1, GATA4, , PITX2, MKL2, CFC1
15	embryogenesis phenotype	MP:0005380	INF	DVL2, NKX2-5, NKX2-6, , GATA4, GDF1

Articles related to double outlet right ventricle:

id	Title	Authors	Year	Affiliating Genes
1	New mutations in ZFPM2/FOG2 gene in tetralogy of Fall ot and double outlet right ventricle. (20807224)	De Luca A.... Dallapiccola B.	2010	GATA4, ISL1, ZFPM2
2	CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. (11799476)	Goldmuntz E.... Muenke M.	2002	CFC1

Genes related to double outlet right ventricle according to GeneCards:

(show all 20)

id	Symbol	Description	Score	GeneCards Section Context
1	HTX2	heterotaxy 2 (autosomal dominant)	11.1
2	GDF1	growth differentiation factor 1	11.1	Publications
3	CFC1	cripto, FRL-1, cryptic family 1	11.1	Publications
4	NKX2-6	NK2 homeobox 6	11.1
5	UNCX	UNC homeobox	11.1
6	MYL12B	myosin, light chain 12B, regulatory	11.1
7	ISL1	ISL LIM homeobox 1	11.1	Publications
8	VANGL2	vang-like 2 (van gogh, Drosophila)	11.1
9	NKX2-5	NK2 homeobox 5	11.1	Publications
10	SSR1	signal sequence receptor, alpha	11.1	Disorders
11	DVL2	dishevelled, dsh homolog 2 (Drosophila)	11.1
12	TBX1	T-box 1	11.1
13	GATA4	GATA binding protein 4	11.1	Publications
14	DVL1	dishevelled, dsh homolog 1 (Drosophila)	11.1
15	ZFPM2	zinc finger protein, multitype 2	11.1	Publications
16	PLXNA2	plexin A2	11.1
17	PITX2	paired-like homeodomain 2	11.1
18	MYOCD	myocardin	11.1
19	MKL2	MKL/myocardin-like 2	11.1
20	LIMS1	LIM and senescent cell antigen-like domains 1	11.1	Disorders

Pathways related to double outlet right ventricle according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	HOP Signaling36	10.0	NKX2-5, GATA4
2	Cardiomyocyte Differentiation through BMP Receptors36	9.8	NKX2-5, GATA4
3	Factors Promoting Cardiogenesis in Vertebrates36	9.5	DVL1, NKX2-5, GATA4
4	Transcriptional Regulatory Network in Embryonic Stem Cell36	INF	ISL1, , GATA4
5	Factors involved in megakaryocyte development and platelet production38	INF	ZFPM2, , GATA4
6	Wnt / Hedgehog / Notch3	INF	DVL2, NKX2-5,
7	BMP Pathway36	INF	GATA4, , NKX2-5

Biological processes related to double outlet right ventricle according to GeneDecks:

(show all 40)

id	Name	GO ID	Score	Top Affiliating Genes
1	atrial cardiac muscle cell development	GO:055014	10.4	NKX2-6, NKX2-5
2	embryonic heart tube development	GO:035050	10.3	NKX2-5, NKX2-6
3	convergent extension involved in neural plate elongation	GO:022007	10.2	DVL1, VANGL2
4	cardiac right ventricle morphogenesis	GO:003215	10.2	ISL1, GATA4
5	right ventricular cardiac muscle tissue morphogenesis	GO:003221	10.2	NKX2-5, ZFPM2
6	cochlea morphogenesis	GO:090103	10.1	TBX1, VANGL2
7	Wnt receptor signaling pathway, planar cell polarity pathway	GO:060071	10.1	DVL2, DVL1
8	pulmonary myocardium development	GO:003350	10.0	NKX2-5, PITX2
9	atrial septum morphogenesis	GO:060413	10.0	ISL1, NKX2-5, GATA4
10	outflow tract morphogenesis	GO:003151	10.0	DVL2, TBX1, ISL1
11	heart looping	GO:001947	10.0	VANGL2, NKX2-5, GATA4
12	negative regulation of myotube differentiation	GO:010832	9.9	MYOCD, NKX2-5
13	positive regulation vascular endothelial growth factor production	GO:010575	9.9	GATA4, ISL1
14	negative regulation of cardiac muscle cell apoptotic process	GO:010667	9.9	MYOCD, NKX2-5
15	ventricular cardiac muscle cell development	GO:055015	9.9	NKX2-6, NKX2-5, PITX2
16	digestive tract development	GO:048565	9.8	NKX2-6, MYOCD
17	neural tube development	GO:021915	9.8	DVL1, PLXNA2
18	determination of left/right symmetry	GO:007368	9.8	CFC1, TBX1, PITX2
19	thyroid gland development	GO:030878	9.8	TBX1, NKX2-5
20	embryonic digestive tract morphogenesis	GO:048557	9.8	GATA4, PITX2
21	spleen development	GO:048536	9.7	PITX2, NKX2-5
22	ventricular septum morphogenesis	GO:060412	9.7	ZFPM2, PITX2, NKX2-5
23	heart morphogenesis	GO:003007	9.6	TBX1, NKX2-5
24	canonical Wnt receptor signaling pathway	GO:060070	9.6	GATA4, NKX2-5, DVL2, DVL1
25	pharyngeal system development	GO:060037	9.4	NKX2-6, NKX2-5, PLXNA2, TBX1, ISL1
26	positive regulation of DNA binding	GO:043388	9.4	PITX2, MYOCD
27	positive regulation of cell proliferation	GO:008284	9.1	NKX2-6, NKX2-5, SSR1, TBX1, MYOCD
28	vasculogenesis	GO:001570	9.1	MYOCD, ZFPM2, PITX2, NKX2-5
29	positive regulation of transcription, DNA-dependent	GO:045893	8.6	GATA4, NKX2-5, DVL2, DVL1, TBX1, MYOCD
30	smooth muscle cell differentiation	GO:051145	INF	MYOCD,
31	positive regulation of cardiac muscle cell proliferation	GO:060045	INF	GATA4,
32	in utero embryonic development	GO:001701	INF	ZFPM2, PITX2, , GATA4
33	intestinal epithelial cell differentiation	GO:060575	INF	, GATA4
34	cardiac muscle cell differentiation	GO:055007	INF	GATA4, , NKX2-5, MYOCD
35	outflow tract septum morphogenesis	GO:003148	INF	ZFPM2, ISL1, TBX1, NKX2-5,
36	negative regulation of transcription from RNA polymerase II promoter	GO:000122	INF	, NKX2-5, PITX2, ISL1, ZFPM2, MYOCD
37	positive regulation of angiogenesis	GO:045766	INF	GATA4, , ISL1
38	positive regulation of cardioblast differentiation	GO:051891	INF	NKX2-5, , GATA4
39	transcription from RNA polymerase II promoter	GO:006366	INF	DVL1, DVL2, , GATA4
40	positive regulation of transcription from RNA polymerase II promoter	GO:045944	INF	GATA4, , NKX2-5, PITX2, TBX1, ISL1

Molecular functions related to double outlet right ventricle according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	frizzled binding	GO:005109	9.8	DVL1, DVL2
2	RNA polymerase II transcription coactivator activity	GO:001105	9.3	ZFPM2, ISL1, PITX2
3	sequence-specific DNA binding	GO:043565	8.8	UNCX, TBX1, NKX2-5, NKX2-6, GATA4
4	transcription factor binding	GO:008134	INF	MYOCD, GATA4, , NKX2-5, PITX2, ZFPM2
5	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	GO:003705	INF	GATA4, , NKX2-5
6	sequence-specific DNA binding transcription factor activity	GO:003700	INF	GATA4, , NKX2-6, NKX2-5, PITX2, TBX1