MCID: HTR021
MIFTS: 27

Heterotaxy, Visceral, 5, Autosomal

Categories: Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

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:



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)

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

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 Frequency 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

Drugs & Therapeutics for Heterotaxy, Visceral, 5, Autosomal

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

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

Anatomical Context for Heterotaxy, Visceral, 5, Autosomal

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

41
Heart, Spleen, Liver, Lung, Thyroid

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 "right" ventricular outflow tract in a patient with dextrocardia and situs inversus viscerum. ( 26151713 )
2015
2
Liver resection for hepatocellular carcinoma in patient with situs inversus viscerum. ( 23794154 )
2013
3
ERCP in complete situs inversus viscerum using a "mirror image" technique. ( 21113889 )
2010
4
A case with balanced reciprocal translocation t(5;11)(q32;q24.2) and situs inversus viscerum. ( 20681226 )
2010
5
Nephrotic syndrome and situs inversus viscerum: correlation or coincidence. ( 16299692 )
2005
6
Gastrointestinal: situs inversus viscerum. ( 12423280 )
2002
7
Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. ( 11045589 )
2000
8
Follicular thyroid carcinoma and mediastinal goiter in a case of situs inversus viscerum. ( 8574804 )
1995
9
[Bronchiectasis in patients with situs inversus viscerum (Kartagener syndrome) (author's transl)]. ( 6973246 )
1981

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

Expression for Heterotaxy, Visceral, 5, Autosomal

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

Pathways for Heterotaxy, Visceral, 5, Autosomal

GO Terms for Heterotaxy, Visceral, 5, Autosomal

Sources for Heterotaxy, Visceral, 5, Autosomal

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