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

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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 ⁷⁵

Visceral Heterotaxy 5, Autosomal ²⁹ ⁶

Situs Inversus Viscerum ⁵⁷ ⁷⁵

Heterotaxy, Visceral, 5 ⁵⁷ ¹³

Htx5 ⁵⁷ ⁷⁵

Siv ⁵⁷ ⁷⁵

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

MedGen ⁴² C3495537 C0037221

MeSH ⁴⁴ D059446

SNOMED-CT via HPO ⁶⁹ 263681008 258211005 199612005 more

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Summaries for Heterotaxy, Visceral, 5, Autosomal

UniProtKB/Swiss-Prot : ⁷⁵ 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 visceral heterotaxy 5, autosomal, is related to swine influenza and situs inversus. 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 ventricular 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:

#	Related Disease	Score	Top Affiliating Genes
1	swine influenza	11.5
2	situs inversus	11.4

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Symptoms & Phenotypes for Heterotaxy, Visceral, 5, Autosomal

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Other:
intrauterine growth retardation

Cardiovascular Vascular:
right pulmonary isomerism

AbdomenSpleen:
right spleen

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

Abdomen:
situs inversus viscerum

Clinical features from OMIM:

270100

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

³² (show all 7)

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

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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

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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, Thyroid

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Publications for Heterotaxy, Visceral, 5, Autosomal

Articles related to Heterotaxy, Visceral, 5, Autosomal:

#	Title	Authors	Year
1	Successful catheter ablation of idiopathic premature ventricular contractions originating from the &quot;right&quot; ventricular outflow tract in a patient with dextrocardia and situs inversus viscerum. ( 26151713 )	Yu M....Cao J.	2015
2	Liver resection for hepatocellular carcinoma in patient with situs inversus viscerum. ( 23794154 )	Ranucci G....Giuliante F.	2013
3	ERCP in complete situs inversus viscerum using a &quot;mirror image&quot; technique. ( 21113889 )	GarcA-a-FernA!ndez F.J....Alcazar F.J.	2010
4	A case with balanced reciprocal translocation t(5;11)(q32;q24.2) and situs inversus viscerum. ( 20681226 )	Karaman A....Kurt A.	2010
5	Nephrotic syndrome and situs inversus viscerum: correlation or coincidence. ( 16299692 )	DomaA8ski M....Ciechanowski K.	2005
6	Gastrointestinal: situs inversus viscerum. ( 12423280 )		2002
7	Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. ( 11045589 )	Cincinnati P....Rutiloni C.	2000
8	Follicular thyroid carcinoma and mediastinal goiter in a case of situs inversus viscerum. ( 8574804 )	Panza N....Lombardi G.	1995
9	[Bronchiectasis in patients with situs inversus viscerum (Kartagener syndrome) (author's transl)]. ( 6973246 )	Tolusakow W.L....Kartawowa W.A.	1981

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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	1328.4	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19064609 9354794

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Variations for Heterotaxy, Visceral, 5, Autosomal

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

⁷⁵

#	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

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

⁶

(show all 20)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NODAL	NODAL, 9-BP INS/24-BP DEL, NT700	indel	Pathogenic
2	NODAL	NODAL, IVS2DS, G-A, +1	single nucleotide variant	Pathogenic
3	NODAL	NM_018055.4(NODAL): c.662G> A (p.Arg221Gln)	single nucleotide variant	Likely benign	rs138681813	GRCh38	Chromosome 10, 70435515: 70435515
4	NODAL	NM_018055.4(NODAL): c.662G> A (p.Arg221Gln)	single nucleotide variant	Likely benign	rs138681813	GRCh37	Chromosome 10, 72195271: 72195271
5	NODAL	NM_018055.4(NODAL): c.891+1G> A	single nucleotide variant	Likely pathogenic	rs878855044	GRCh38	Chromosome 10, 70435285: 70435285
6	NODAL	NM_018055.4(NODAL): c.891+1G> A	single nucleotide variant	Likely pathogenic	rs878855044	GRCh37	Chromosome 10, 72195041: 72195041
7	NODAL	NM_018055.4(NODAL): c.588C> G (p.Leu196=)	single nucleotide variant	Benign/Likely benign	rs2231959	GRCh38	Chromosome 10, 70435589: 70435589
8	NODAL	NM_018055.4(NODAL): c.588C> G (p.Leu196=)	single nucleotide variant	Benign/Likely benign	rs2231959	GRCh37	Chromosome 10, 72195345: 72195345
9	NODAL	NM_018055.4(NODAL): c.357C> T (p.Pro119=)	single nucleotide variant	Benign/Likely benign	rs77151171	GRCh37	Chromosome 10, 72195576: 72195576
10	NODAL	NM_018055.4(NODAL): c.357C> T (p.Pro119=)	single nucleotide variant	Benign/Likely benign	rs77151171	GRCh38	Chromosome 10, 70435820: 70435820
11	NODAL	NM_018055.4(NODAL): c.216C> T (p.Asn72=)	single nucleotide variant	Benign/Likely benign	rs138195571	GRCh37	Chromosome 10, 72195717: 72195717
12	NODAL	NM_018055.4(NODAL): c.216C> T (p.Asn72=)	single nucleotide variant	Benign/Likely benign	rs138195571	GRCh38	Chromosome 10, 70435961: 70435961
13	NODAL	NM_018055.4(NODAL): c.658T> C (p.Trp220Arg)	single nucleotide variant	Uncertain significance	rs776168916	GRCh37	Chromosome 10, 72195275: 72195275
14	NODAL	NM_018055.4(NODAL): c.658T> C (p.Trp220Arg)	single nucleotide variant	Uncertain significance	rs776168916	GRCh38	Chromosome 10, 70435519: 70435519
15	NODAL	NM_018055.4(NODAL): c.870G> T (p.Pro290=)	single nucleotide variant	Likely benign	rs763525961	GRCh38	Chromosome 10, 70435307: 70435307
16	NODAL	NM_018055.4(NODAL): c.870G> T (p.Pro290=)	single nucleotide variant	Likely benign	rs763525961	GRCh37	Chromosome 10, 72195063: 72195063
17	NODAL	NM_018055.4(NODAL): c.759G> A (p.Gln253=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 10, 70435418: 70435418
18	NODAL	NM_018055.4(NODAL): c.759G> A (p.Gln253=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 10, 72195174: 72195174
19	NODAL	NM_018055.4(NODAL): c.9C> T (p.Ala3=)	single nucleotide variant	Likely benign	rs376002393	GRCh38	Chromosome 10, 70441659: 70441659
20	NODAL	NM_018055.4(NODAL): c.9C> T (p.Ala3=)	single nucleotide variant	Likely benign	rs376002393	GRCh37	Chromosome 10, 72201415: 72201415

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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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