Atrioventricular Septal Defect malady

Wikipedia: Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), previously known as...⁴⁴ more...

MalaCards: Atrioventricular Septal Defect, also known as atrioventricular canal defect, is related to heart septal defect and atrial heart septal defect. An important gene associated with Atrioventricular Septal Defect is CRELD1 (cysteine-rich with EGF-like domains 1), and among its related pathways is HOP Signaling. The compounds carbenoxolone and chelerythrine have been mentioned in the context of this disorder. Affiliated tissues include heart and thyroid, and related mouse phenotypes are respiratory system and embryogenesis.

OMIM: 600309

Aliases & Descriptions:

atrioventricular septal defect 6 7 30 8 33 32 atrioventricular canal defect 6 7 33

thyroid hormone plasma membrane transport defect 43 heart septal defects 43

Disease types for atrioventricular septal defect family:

atrioventricular septal defect 2

Diseases related to atrioventricular septal defect by text searches and GeneDecks gene sharing:

(show top 50)    (show all 74)

id	Related Disease	Score	Top Affiliating Genes
1	heart septal defect	33.2	NKX2-5, TBX5, GATA4
2	atrial heart septal defect	31.9	TBX1, NKX2-5
3	ventricular septal defect	31.8	GATA4, TBX5, NKX2-5
4	congenital heart defect	31.8	TBX5, GJA1, NKX2-5, GATA4
5	double outlet right ventricle	31.7	GATA4, TBX1, NKX2-5, LIMS1
6	tetralogy of fallot	27.6	CLTCL1, GJA1, TBX1, EDN1, ACP6, NKX2-5
7	transposition of great arteries	13.4	NKX2-5, GATA4, CRELD1
8	congenital heart block	13.4	GATA4, NKX2-5
9	ulnar-mammary syndrome	13.4	TBX1, TBX5
10	ovarian germ cell tumor	13.3	GATA4, GATA6
11	holt-oram syndrome	13.3	TBX1, TBX5, NKX2-5
12	polydactyly	13.2	EVC2, EVC
13	acrofacial dysostosis	13.1	EVC2, EVC
14	craniofacial anomalies	13.0	GJA1, TBX5, DHCR7
15	nager acrofacial dysostosis	13.0	EVC, EVC2
16	heterotaxy	12.9	CRELD1, GJA1
17	velocardiofacial syndrome	12.9	TBX5, ZNF74, TBX1, CLTCL1
18	digeorge syndrome	12.9	CLTCL1, ZNF74, TBX1, TBX5
19	ebstein anomaly	12.9	GATA4, NKX2-5, TBX1, LIMS1
20	developmental disabilities	12.7	DHCR7, TBX5, GJA1
21	clouston syndrome	12.6	EVC2, EVC
22	patent ductus arteriosus	11.9	TBX1, TBX5, EDN1, EVC, LIMS1, DHCR7
23	noonan syndrome	11.6	GATA4, NKX2-5, PRKAB2, EDN1, TBX5, GJA1
24	intellectual disability	11.5	GTF2IRD1, TBX1, SRGAP3, DHCR7, CNTN4
25	astrocytoma	10.5	EGF, SRGAP3, GATA6, GJA1, GATA4, EDN1
26	thyroid hormone plasma membrane transport defect	9.7
27	down syndrome	8.3
28	partial atrioventricular canal	8.3
29	atrioventricular septal defect, partial, with heterotaxy syndrome	8.3
30	atrioventricular septal defect 2	8.3
31	complete atrioventricular canal	8.3
32	dandy-walker like malformation with atrioventricular septal defect	8.3
33	shoulder girdle defect mental retardation familial	8.3
34	defective apolipoprotein b-100	8.3
35	skeletal defects, genital hypoplasia, and mental retardation	8.3
36	hair defect with photosensitivity and mental retardation	8.3
37	selective t-cell defect	8.3
38	heart defect, tongue hamartoma and polysyndactyly	8.3
39	thyroid hormone organification defect iia	8.3
40	hyperthermia induced defects	8.3
41	thyroid hormonogenesis defect i	8.3
42	abdominal wall defect	8.3
43	hay-wells syndrome	8.3
44	takayasu's arteritis	8.3
45	acro-pectoro-renal field defect	8.3
46	limb reduction defect	8.3
47	trigonomacrocephaly tibial defect polydactyly	8.3
48	allan-herndon-dudley syndrome	8.3
49	lateral body wall defect	8.3
50	total iodide organification defect	8.3

Clinical features from OMIM: 600309

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to atrioventricular septal defect:

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MGI Mouse Phenotypes related to atrioventricular septal defect:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	8.0	GATA4, GATA6, NKX2-5, DHCR7, TBX1, GJA1
2	embryogenesis phenotype	MP:0005380	7.4	GATA4, GATA6, NKX2-5, EDN1, TBX5, TBX1
3	muscle phenotype	MP:0005369	7.1	LIMS1, GATA4, GATA6, NKX2-5, PRKAB2, DHCR7
4	cardiovascular system phenotype	MP:0005385	7.0	EDN1, DHCR7, NKX2-5, GATA6, GATA4, TBX5
5	mortality/aging	MP:0010768	6.6	EDN1, DHCR7, PRKAB2, NKX2-5, GATA6, SRGAP2
6	growth/size phenotype	MP:0005378	6.0	DHCR7, PRKAB2, NKX2-5, GATA6, GATA4, EGF

Articles related to atrioventricular septal defect:

id	Title	Authors	Year	Affiliating Genes
1	Plasma endothelin-1 and nitrate levels in Down's syndrome with complete atrioventricular septal defect-associated pulmonary hypertension: a comparison with non-Down's syndrome children. (18682983)	Sungur M.... Senocak F.	2009	EDN1
2	CRELD1 mutations contribute to the occurrence of card iac atrioventricular septal defects in Down syndrome. (17036335)	Maslen C.L.... Sherman S.L.	2006	CRELD1
3	Molecular genetics of atrioventricular septal defects . (15096951)	Maslen C.L.	2004	EGF
4	Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. (12632326)	Robinson S.W.... Maslen C.L.	2003	CRELD1

Genes related to atrioventricular septal defect according to GeneCards:

(show all 31)

id	Symbol	Description	Score	GeneCards Section Context
1	CRELD1	cysteine-rich with EGF-like domains 1	11.1	Summaries, Aliases & Descriptions, Publications
2	AVSD1	atrioventricular septal defect 1	11.1	Aliases & Descriptions
3	NKX2-5	NK2 homeobox 5	11.0
4	GATA4	GATA binding protein 4	11.0
5	TBX5	T-box 5	11.0
6	SRGAP2	SLIT-ROBO Rho GTPase activating protein 2	11.0
7	LRCH4	leucine-rich repeats and calponin homology (CH) domain containing 4	11.0
8	LEFTY2	left-right determination factor 2	11.0
9	FMO5	flavin containing monooxygenase 5	11.0	Disorders
10	GIN1	gypsy retrotransposon integrase 1	11.0	Disorders
11	ZNF74	zinc finger protein 74	11.0	Disorders
12	ACP6	acid phosphatase 6, lysophosphatidic	11.0	Disorders
13	LRRN1	leucine rich repeat neuronal 1	11.0
14	GATA6	GATA binding protein 6	11.0
15	PRKAB2	protein kinase, AMP-activated, beta 2 non-catalytic subunit	11.0
16	SEC13	SEC13 homolog (S. cerevisiae)	11.0
17	TBX1	T-box 1	11.0
18	BCL9	B-cell CLL/lymphoma 9	11.0	Disorders
19	DHCR7	7-dehydrocholesterol reductase	11.0
20	EVC	Ellis van Creveld syndrome	11.0
21	EVC2	Ellis van Creveld syndrome 2	11.0
22	FBLN2	fibulin 2	11.0
23	CLTCL1	clathrin, heavy chain-like 1	11.0
24	GTF2IRD1	GTF2I repeat domain containing 1	11.0	Disorders
25	SRGAP3	SLIT-ROBO Rho GTPase activating protein 3	11.0
26	ATP2B2	ATPase, Ca++ transporting, plasma membrane 2	11.0
27	GJA1	gap junction protein, alpha 1, 43kDa	11.0
28	LIMS1	LIM and senescent cell antigen-like domains 1	11.0
29	EDN1	endothelin 1	11.0	Publications
30	EGF	epidermal growth factor	11.0	Publications
31	CNTN4	contactin 4	11.0

Pathways related to atrioventricular septal defect according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	HOP Signaling36	10.2	NKX2-5, GATA4

Compounds related to atrioventricular septal defect according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	carbenoxolone32 9 9	11.4	GJA1, EDN1
2	chelerythrine32	8.3	GJA1, EDN1, EGF

Biological processes related to atrioventricular septal defect according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	ventricular cardiac muscle tissue development	GO:003229	10.4	GATA4, TBX5
2	bundle of His development	GO:003166	10.4	NKX2-5, TBX5
3	endocardial cushion development	GO:003197	10.3	GATA4, CRELD1, TBX5
4	intestinal epithelial cell differentiation	GO:060575	10.3	GATA6, GATA4
5	positive regulation of cardiac muscle cell proliferation	GO:060045	10.2	TBX5, GATA6, GATA4
6	atrioventricular valve morphogenesis	GO:003181	10.2	GATA4, TBX5
7	outflow tract septum morphogenesis	GO:003148	10.1	TBX1, NKX2-5, GATA6
8	positive regulation of cardioblast differentiation	GO:051891	10.1	TBX5, NKX2-5, GATA6, GATA4
9	cardiac muscle cell differentiation	GO:055007	10.1	TBX5, NKX2-5, GATA6, GATA4
10	canonical Wnt receptor signaling pathway	GO:060070	10.0	BCL9, NKX2-5, GATA4
11	atrial septum morphogenesis	GO:060413	9.9	GATA4, NKX2-5
12	heart looping	GO:001947	9.9	GATA4, NKX2-5, GJA1
13	heart development	GO:007507	9.1	GJA1, TBX1, TBX5, EDN1
14	in utero embryonic development	GO:001701	9.0	GJA1, EDN1, GATA6, GATA4

Molecular functions related to atrioventricular septal defect according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	GO:003705	9.7	GTF2IRD1, NKX2-5, GATA6, GATA4