Heterotaxy, Visceral, 5, Autosomal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HTX5 MCID: HTR021 MIFTS: 35	Heterotaxy, Visceral, 5, Autosomal (HTX5) Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Heterotaxy, Visceral, 5, Autosomal

MalaCards integrated aliases for Heterotaxy, Visceral, 5, Autosomal:

Name: Heterotaxy, Visceral, 5, Autosomal ⁵⁷ ⁷⁴

Heterotaxy, Visceral, 5 ⁵⁷ ²⁹ ¹³

Visceral Heterotaxy 5, Autosomal ²⁹ ⁶

Situs Inversus Viscerum ⁵⁷ ⁷⁴

Htx5 ⁵⁷ ⁷⁴

Siv ⁵⁷ ⁷⁴

Heterotaxy, Visceral, Autosomal, Type 5 ⁴⁰

Situs Inversus Viscerum; Siv ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

heterotaxy, visceral, 5, autosomal:
Inheritance autosomal dominant inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 270100 PS306955

MeSH ⁴⁴ D059446

MedGen ⁴² C0037221 C3495537

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Summaries for Heterotaxy, Visceral, 5, Autosomal

UniProtKB/Swiss-Prot : ⁷⁴ Heterotaxy, visceral, 5, autosomal: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia.

MalaCards based summary : Heterotaxy, Visceral, 5, Autosomal, also known as heterotaxy, visceral, 5, is related to dextrocardia with situs inversus and swine influenza. An important gene associated with Heterotaxy, Visceral, 5, Autosomal is NODAL (Nodal Growth Differentiation Factor). Affiliated tissues include heart, spleen and liver, and related phenotypes are intrauterine growth retardation and atrial septal defect

OMIM : ⁵⁷ Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). (270100)

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Related Diseases for Heterotaxy, Visceral, 5, Autosomal

Diseases in the Visceral Heterotaxy family:

Heterotaxy, Visceral, 5, Autosomal	Heterotaxy, Visceral, 2, Autosomal
Heterotaxy, Visceral, 3, Autosomal	Heterotaxy, Visceral, 4, Autosomal
Heterotaxy, Visceral, 6, Autosomal	Heterotaxy, Visceral, 7, Autosomal
Heterotaxy, Visceral, 8, Autosomal

Diseases related to Heterotaxy, Visceral, 5, Autosomal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 184)

#	Related Disease	Score
1	dextrocardia with situs inversus	11.9
2	swine influenza	11.8
3	situs inversus	11.7
4	immune deficiency disease	10.8
5	vaccinia	10.8
6	human immunodeficiency virus type 1	10.8
7	acquired immunodeficiency syndrome	10.7
8	encephalitis	10.7
9	cholecystitis	10.5
10	dextrocardia	10.5
11	human immunodeficiency virus infectious disease	10.5
12	lymphoma	10.5
13	appendicitis	10.5
14	bronchiectasis	10.5
15	stomatitis	10.4
16	cytokine deficiency	10.4
17	lymphopenia	10.3
18	ciliary dyskinesia, primary, 1	10.3
19	kartagener syndrome	10.3
20	cholelithiasis	10.3
21	klippel-feil syndrome	10.3
22	intestinal volvulus	10.3
23	morphine dependence	10.3
24	measles	10.3
25	neuropathy	10.3
26	peripheral nervous system disease	10.2
27	myocarditis	10.2
28	chickenpox	10.2
29	tetanus	10.2
30	cryptosporidiosis	10.2
31	rubella	10.2
32	prune belly syndrome	10.2
33	hepatocellular carcinoma	10.2
34	cleft palate, isolated	10.2
35	renal cell carcinoma, nonpapillary	10.2
36	pectus excavatum	10.2
37	thyroid cancer, nonmedullary, 2	10.2
38	gastrointestinal ulceration, recurrent, with dysfunctional platelets	10.2
39	visceral heterotaxy	10.2
40	atrioventricular block	10.2
41	umbilical hernia	10.2
42	pyelonephritis	10.2
43	nephrotic syndrome	10.2
44	goiter	10.2
45	pyloric stenosis	10.2
46	substernal goiter	10.2
47	obstructive jaundice	10.2
48	echinococcosis	10.2
49	duodenal ulcer	10.2
50	thyroid gland follicular carcinoma	10.2

Graphical network of the top 20 diseases related to Heterotaxy, Visceral, 5, Autosomal:

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Symptoms & Phenotypes for Heterotaxy, Visceral, 5, Autosomal

Human phenotypes related to Heterotaxy, Visceral, 5, Autosomal:

³² (show all 7)

#	Description	HPO Source Accession
1	intrauterine growth retardation ³²	HP:0001511
2	atrial septal defect ³²	HP:0001631
3	ventricular septal defect ³²	HP:0001629
4	abdominal situs inversus ³²	HP:0003363
5	abnormality of the respiratory system ³²	HP:0002086
6	dextrocardia ³²	HP:0001651
7	transposition of the great arteries ³²	HP:0001669

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Other:
intrauterine growth retardation

Cardiovascular Vascular:
right pulmonary isomerism

Abdomen Spleen:
right spleen

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
dextrocardia
congenital heart defect
transposition of the great vessels

Abdomen:
situs inversus viscerum

Clinical features from OMIM:

270100

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Drugs & Therapeutics for Heterotaxy, Visceral, 5, Autosomal

Search Clinical Trials , NIH Clinical Center for Heterotaxy, Visceral, 5, Autosomal

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Genetic Tests for Heterotaxy, Visceral, 5, Autosomal

Genetic tests related to Heterotaxy, Visceral, 5, Autosomal:

#	Genetic test	Affiliating Genes
1	Visceral Heterotaxy 5, Autosomal ²⁹	NODAL
2	Heterotaxy, Visceral, 5 ²⁹

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Anatomical Context for Heterotaxy, Visceral, 5, Autosomal

MalaCards organs/tissues related to Heterotaxy, Visceral, 5, Autosomal:

⁴¹

Heart, Spleen, Liver, Lung, Kidney, Thyroid, Pancreas

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Publications for Heterotaxy, Visceral, 5, Autosomal

Articles related to Heterotaxy, Visceral, 5, Autosomal:

(show top 50) (show all 121)

#	Title	Authors	PMID	Year
1	Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. ⁸ ⁷¹	Mohapatra B...Ware SM	19064609	2009
2	X-linked situs abnormalities result from mutations in ZIC3. ⁸ ⁷¹	Gebbia M...Casey B	9354794	1997
3	Left, right ... which way to turn? ⁸	Srivastava D	9354777	1997
4	Familial situs inversus and congenital heart defects. ⁸	Zlotogora J...Glaser Y	3812559	1987
5	Paternal age and the occurrence of birth defects. ⁸	Lian ZH...Erickson JD	3788977	1986
6	Transposition of viscera in siblings. ⁸	LEININGER CR...GIBSON S	15437259	1950
7	[Kartagener syndrome: neonatal diagnosis. A case report]. ³⁸	Perez Crespo MDR...Perez-Moneo Agapito B	31063320	2019
8	A colovesical fistula with a persistent descending mesocolon due to partial situs inversus: A case report. ³⁸	Mochizuki T...Sakimoto H	28654851	2017
9	Successful catheter ablation of idiopathic premature ventricular contractions originating from the "right" ventricular outflow tract in a patient with dextrocardia and situs inversus viscerum. ³⁸	Yu M...Cao J	26151713	2015
10	[Kartagener syndrome and papillary thyroid carcinoma: an unusual combination]. ³⁸	Ren J...He Z	26930919	2015
11	Therapeutic endoscopic retrograde cholangiopancreatography in a patient with situs inversus viscerum. ³⁸	Hu Y...Hu Y	25987802	2015
12	Liver resection for hepatocellular carcinoma in patient with situs inversus viscerum. ³⁸	Ranucci G...Giuliante F	23794154	2014
13	[Missed diagnosis and treatment discussion of Kartagener syndrome]. ³⁸	Gao S...Xu Q	23650700	2013
14	Left-sided gallbladder: an incidental finding on laparoscopic cholecystectomy. ³⁸	Makni A...Safta ZB	22720865	2012
15	Situs inversus totalis with perforated duodenal ulcer: a case report. ³⁸	Tayeb M...Rauf F	21722405	2011
16	[Prune Belly syndrome complicated by pectus excavatum, spleen and left kidney congenital absence and situs inversus viscerum: a case report]. ³⁸	Xu WZ...Yang CX	21083994	2010
17	A case with balanced reciprocal translocation t(5;11)(q32;q24.2) and situs inversus viscerum. ³⁸	Karaman A...Kurt A	20681226	2010
18	ERCP in complete situs inversus viscerum using a "mirror image" technique. ³⁸	Garcia-Fernandez FJ...Alcazar FJ	21113889	2010
19	Kartagener syndrome in a Nigerian African--a case report and literature review. ³⁸	Chuhwak EK	20120152	2009
20	[Clinical characteristics of primary ciliary dyskinesia in children]. ³⁸	Xu BP...Lang ZQ	19099837	2008
21	Appendicitis and situs inversus viscerum in a 32-year-old female nigerian: a case report. ³⁸	Adeniyi AE...Erinle CA	25161447	2008
22	A left nonrecurrent inferior laryngeal nerve in a patient with right-sided aorta, truncus arteriosus communis, and an aberrant left innominate artery. ³⁸	Fellmer PT...Goretzki PE	18578615	2008
23	Left-sided gall bladder: Report of two cases. ³⁸	Chrungoo RK...Nadim AS	19789667	2007
24	Nephrotic syndrome and situs inversus viscerum: correlation or coincidence. ³⁸	Domanski M...Ciechanowski K	16299692	2005
25	Laparoscopic cholecystectomy for left-sided gallbladder (sinistroposition). ³⁸	Reddy PK...Yuvaraja S	16121888	2005
26	[Variations in the course of the inferior laryngeal nerve. Surgical anatomy, classification, diagnosis]. ³⁸	Weiand G...Mangold G	14991182	2004
27	Gastrointestinal: situs inversus viscerum. ³⁸		12423280	2002
28	[Left-sided gallbladder]. ³⁸	Rozsos I...Rainer S	12474520	2002
29	[Situs inversus viscerum]. ³⁸	Sakazume S	11528942	2001
30	Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. ³⁸	Cincinnati P...Rutiloni C	11045589	2000
31	Corrected transposition of the great vessels and situs inversus viscerum in a 65-year-old oligosymptomatic woman. ³⁸	Scardi S...Pandullo C	10449703	1999
32	Laparoscopic cholecystectomy in two patients with symptomatic cholelithiasis and situs inversus totalis. ³⁸	Demetriades H...Dadoukis J	10805554	1999
33	Renal cell carcinoma and situs inversus viscerum. ³⁸	Adler HL...Lerner SP	9817342	1998
34	[Perforated duodenal and stomach ulcers in complete situs inversus viscerum]. ³⁸	Bril' IuV	9751985	1998
35	Complete situs inversus and broad thumbs and big toes with postaxial polydactyly. ³⁸	Czeizel AE...Goblyos P	9429152	1997
36	Adrenergic neurotransmitters and calcium ionophore-induced situs inversus viscerum in Xenopus laevis embryos. ³⁸	Toyoizumi R...Takeuchi S	9352205	1997
37	Laparoscopic cholecystectomy in situs inversus totalis. ³⁸	Crosher RF...Bremner DN	8763185	1996
38	Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus. ³⁸	Lowe LA...Kuehn MR	8610013	1996
39	Developmental asymmetries in experimental animals. ³⁸	Polani PE	8994204	1996
40	Follicular thyroid carcinoma and mediastinal goiter in a case of situs inversus viscerum. ³⁸	Panza N...Lombardi G	8574804	1995
41	ERCP and laparoscopic cholecystectomy for cholangitis in a 66-year-old male with situs inversus. ³⁸	McDermott JP...Caushaj PF	7809812	1994
42	Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse. ³⁸	McGrath J...Brueckner M	1427890	1992
43	Laparoscopic cholecystectomy in a patient with empyema of the gallbladder and situs inversus. ³⁸	Goh P...Ngoi SS	1468403	1992
44	Periampullary carcinoma in a young female with situs inversus. ³⁸	Ibrarullah M...Kapoor VK	1428042	1992
45	[Appendicitis in patients with complete situs inversus viscerum]. ³⁸	Samofalov VP...Budarin VN	1447897	1992
46	Laparoscopic cholecystectomy and ERCP with sphincterotomy in an elderly patient with situs inversus. ³⁸	Lipschutz JH...Lehman GA	1531164	1992
47	Laparoscopic cholecystectomy in a patient with situs inversus viscerum: a case report. ³⁸	Drover JW...Pace RF	1531441	1992
48	legless insertional mutation: morphological, molecular, and genetic characterization. ³⁸	Singh G...Scott W	1748282	1991
49	Genetically determined variation in the azygos vein in the mouse. ³⁸	Biddle FG...Eales BA	1805438	1991
50	[Acute pyelonephritis and calculous cholecystitis in a patient with complete situs inversus viscerum]. ³⁸	Podkur PE	1779536	1991

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Genes for Heterotaxy, Visceral, 5, Autosomal

Genes related to Heterotaxy, Visceral, 5, Autosomal (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NODAL	Nodal Growth Differentiation Factor	Protein Coding	1328.2	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19064609 9354794

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Variations for Heterotaxy, Visceral, 5, Autosomal

ClinVar genetic disease variations for Heterotaxy, Visceral, 5, Autosomal:

⁶ (show all 21)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	NODAL	NODAL, 9-BP INS/24-BP DEL, NT700	indel	Pathogenic
2	NODAL	NM_018055.5(NODAL): c.446del (p.Gly149fs)	deletion	Pathogenic		10:72195487-72195487	10:70435733-70435733
3	NODAL	NM_018055.5(NODAL): c.700_707del (p.Arg234fs)	deletion	Likely pathogenic		10:72195226-72195233	10:70435470-70435477
4	NODAL	NM_018055.5(NODAL): c.194-1G> T	single nucleotide variant	Likely pathogenic		10:72195740-72195740	10:70435984-70435984
5	NODAL	NM_018055.5(NODAL): c.891+1G> A	single nucleotide variant	Likely pathogenic	rs878855044	10:72195041-72195041	10:70435285-70435285
6	NODAL	NM_018055.5(NODAL): c.778G> A (p.Gly260Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs121909283	10:72195155-72195155	10:70435399-70435399
7	NODAL	NM_018055.5(NODAL): c.904C> T (p.Arg302Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150819707	10:72192832-72192832	10:70433076-70433076
8	NODAL	NM_018055.5(NODAL): c.891+2T> A	single nucleotide variant	Uncertain significance		10:72195040-72195040	10:70435284-70435284
9	NODAL	NM_018055.5(NODAL): c.673G> A (p.Gly225Arg)	single nucleotide variant	Uncertain significance		10:72195260-72195260	10:70435504-70435504
10	NODAL	NC_000010.10: g.(?_72179670)_(72360658_?)dup	duplication	Uncertain significance		10:72179670-72360658	10:70419914-70600902
11	NODAL	NM_018055.5(NODAL): c.679C> G (p.Leu227Val)	single nucleotide variant	Uncertain significance		10:72195254-72195254	10:70435498-70435498
12	NODAL	NM_018055.5(NODAL): c.397C> T (p.Gln133Ter)	single nucleotide variant	Uncertain significance		10:72195536-72195536	10:70435780-70435780
13	NODAL	NM_018055.5(NODAL): c.548G> A (p.Arg183Gln)	single nucleotide variant	Uncertain significance	rs104894169	10:72195385-72195385	10:70435629-70435629
14	NODAL	NM_018055.5(NODAL): c.658T> C (p.Trp220Arg)	single nucleotide variant	Uncertain significance	rs776168916	10:72195275-72195275	10:70435519-70435519
15	NODAL	NM_018055.5(NODAL): c.870G> T (p.Pro290=)	single nucleotide variant	Likely benign	rs763525961	10:72195063-72195063	10:70435307-70435307
16	NODAL	NM_018055.5(NODAL): c.759G> A (p.Gln253=)	single nucleotide variant	Likely benign	rs1554850001	10:72195174-72195174	10:70435418-70435418
17	NODAL	NM_018055.5(NODAL): c.9C> T (p.Ala3=)	single nucleotide variant	Likely benign	rs376002393	10:72201415-72201415	10:70441659-70441659
18	NODAL	NM_018055.5(NODAL): c.662G> A (p.Arg221Gln)	single nucleotide variant	Likely benign	rs138681813	10:72195271-72195271	10:70435515-70435515
19	NODAL	NM_018055.5(NODAL): c.588C> G (p.Leu196=)	single nucleotide variant	Benign/Likely benign	rs2231959	10:72195345-72195345	10:70435589-70435589
20	NODAL	NM_018055.5(NODAL): c.357C> T (p.Pro119=)	single nucleotide variant	Benign/Likely benign	rs77151171	10:72195576-72195576	10:70435820-70435820
21	NODAL	NM_018055.5(NODAL): c.216C> T (p.Asn72=)	single nucleotide variant	Benign/Likely benign	rs138195571	10:72195717-72195717	10:70435961-70435961

UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 5, Autosomal:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	NODAL	p.Arg183Gln	VAR_015111	rs104894169
2	NODAL	p.Glu203Lys	VAR_038194	rs10999334
3	NODAL	p.Gly260Arg	VAR_062281	rs121909283
4	NODAL	p.Arg275Cys	VAR_062282	rs781366461
5	NODAL	p.Val284Phe	VAR_062283	rs131047936

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Expression for Heterotaxy, Visceral, 5, Autosomal

Search GEO for disease gene expression data for Heterotaxy, Visceral, 5, Autosomal.

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Pathways for Heterotaxy, Visceral, 5, Autosomal

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GO Terms for Heterotaxy, Visceral, 5, Autosomal

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Heterotaxy, Visceral, 5, Autosomal (HTX5)

Aliases & Classifications for Heterotaxy, Visceral, 5, Autosomal

MalaCards integrated aliases for Heterotaxy, Visceral, 5, Autosomal:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Heterotaxy, Visceral, 5, Autosomal

Related Diseases for Heterotaxy, Visceral, 5, Autosomal

Diseases in the Visceral Heterotaxy family:

Diseases related to Heterotaxy, Visceral, 5, Autosomal via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Heterotaxy, Visceral, 5, Autosomal:

Symptoms & Phenotypes for Heterotaxy, Visceral, 5, Autosomal

Human phenotypes related to Heterotaxy, Visceral, 5, Autosomal:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Heterotaxy, Visceral, 5, Autosomal

Genetic Tests for Heterotaxy, Visceral, 5, Autosomal

Genetic tests related to Heterotaxy, Visceral, 5, Autosomal:

Anatomical Context for Heterotaxy, Visceral, 5, Autosomal

MalaCards organs/tissues related to Heterotaxy, Visceral, 5, Autosomal:

Publications for Heterotaxy, Visceral, 5, Autosomal

Articles related to Heterotaxy, Visceral, 5, Autosomal:

Genes for Heterotaxy, Visceral, 5, Autosomal

Genes related to Heterotaxy, Visceral, 5, Autosomal (1 elite genes):

Variations for Heterotaxy, Visceral, 5, Autosomal

ClinVar genetic disease variations for Heterotaxy, Visceral, 5, Autosomal:

UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 5, Autosomal:

Expression for Heterotaxy, Visceral, 5, Autosomal

Pathways for Heterotaxy, Visceral, 5, Autosomal

GO Terms for Heterotaxy, Visceral, 5, Autosomal

Sources for Heterotaxy, Visceral, 5, Autosomal