HTX5
MCID: HTR021
MIFTS: 35

Heterotaxy, Visceral, 5, Autosomal (HTX5)

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

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:



External Ids:

MeSH 44 D059446

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)

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 Top Affiliating Genes
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:



Diseases related to Heterotaxy, Visceral, 5, Autosomal

Symptoms & Phenotypes for Heterotaxy, Visceral, 5, Autosomal

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 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

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
2 Heterotaxy, Visceral, 5 29

Anatomical Context for Heterotaxy, Visceral, 5, Autosomal

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

41
Heart, Spleen, Liver, Lung, Kidney, Thyroid, Pancreas

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
19064609 2009
2
X-linked situs abnormalities result from mutations in ZIC3. 8 71
9354794 1997
3
Left, right ... which way to turn? 8
9354777 1997
4
Familial situs inversus and congenital heart defects. 8
3812559 1987
5
Paternal age and the occurrence of birth defects. 8
3788977 1986
6
Transposition of viscera in siblings. 8
15437259 1950
7
[Kartagener syndrome: neonatal diagnosis. A case report]. 38
31063320 2019
8
A colovesical fistula with a persistent descending mesocolon due to partial situs inversus: A case report. 38
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
26151713 2015
10
[Kartagener syndrome and papillary thyroid carcinoma: an unusual combination]. 38
26930919 2015
11
Therapeutic endoscopic retrograde cholangiopancreatography in a patient with situs inversus viscerum. 38
25987802 2015
12
Liver resection for hepatocellular carcinoma in patient with situs inversus viscerum. 38
23794154 2014
13
[Missed diagnosis and treatment discussion of Kartagener syndrome]. 38
23650700 2013
14
Left-sided gallbladder: an incidental finding on laparoscopic cholecystectomy. 38
22720865 2012
15
Situs inversus totalis with perforated duodenal ulcer: a case report. 38
21722405 2011
16
[Prune Belly syndrome complicated by pectus excavatum, spleen and left kidney congenital absence and situs inversus viscerum: a case report]. 38
21083994 2010
17
A case with balanced reciprocal translocation t(5;11)(q32;q24.2) and situs inversus viscerum. 38
20681226 2010
18
ERCP in complete situs inversus viscerum using a "mirror image" technique. 38
21113889 2010
19
Kartagener syndrome in a Nigerian African--a case report and literature review. 38
20120152 2009
20
[Clinical characteristics of primary ciliary dyskinesia in children]. 38
19099837 2008
21
Appendicitis and situs inversus viscerum in a 32-year-old female nigerian: a case report. 38
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
18578615 2008
23
Left-sided gall bladder: Report of two cases. 38
19789667 2007
24
Nephrotic syndrome and situs inversus viscerum: correlation or coincidence. 38
16299692 2005
25
Laparoscopic cholecystectomy for left-sided gallbladder (sinistroposition). 38
16121888 2005
26
[Variations in the course of the inferior laryngeal nerve. Surgical anatomy, classification, diagnosis]. 38
14991182 2004
27
Gastrointestinal: situs inversus viscerum. 38
12423280 2002
28
[Left-sided gallbladder]. 38
12474520 2002
29
[Situs inversus viscerum]. 38
11528942 2001
30
Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. 38
11045589 2000
31
Corrected transposition of the great vessels and situs inversus viscerum in a 65-year-old oligosymptomatic woman. 38
10449703 1999
32
Laparoscopic cholecystectomy in two patients with symptomatic cholelithiasis and situs inversus totalis. 38
10805554 1999
33
Renal cell carcinoma and situs inversus viscerum. 38
9817342 1998
34
[Perforated duodenal and stomach ulcers in complete situs inversus viscerum]. 38
9751985 1998
35
Complete situs inversus and broad thumbs and big toes with postaxial polydactyly. 38
9429152 1997
36
Adrenergic neurotransmitters and calcium ionophore-induced situs inversus viscerum in Xenopus laevis embryos. 38
9352205 1997
37
Laparoscopic cholecystectomy in situs inversus totalis. 38
8763185 1996
38
Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus. 38
8610013 1996
39
Developmental asymmetries in experimental animals. 38
8994204 1996
40
Follicular thyroid carcinoma and mediastinal goiter in a case of situs inversus viscerum. 38
8574804 1995
41
ERCP and laparoscopic cholecystectomy for cholangitis in a 66-year-old male with situs inversus. 38
7809812 1994
42
Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse. 38
1427890 1992
43
Laparoscopic cholecystectomy in a patient with empyema of the gallbladder and situs inversus. 38
1468403 1992
44
Periampullary carcinoma in a young female with situs inversus. 38
1428042 1992
45
[Appendicitis in patients with complete situs inversus viscerum]. 38
1447897 1992
46
Laparoscopic cholecystectomy and ERCP with sphincterotomy in an elderly patient with situs inversus. 38
1531164 1992
47
Laparoscopic cholecystectomy in a patient with situs inversus viscerum: a case report. 38
1531441 1992
48
legless insertional mutation: morphological, molecular, and genetic characterization. 38
1748282 1991
49
Genetically determined variation in the azygos vein in the mouse. 38
1805438 1991
50
[Acute pyelonephritis and calculous cholecystitis in a patient with complete situs inversus viscerum]. 38
1779536 1991

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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