HTX5
MCID: HTR021
MIFTS: 38

Heterotaxy, Visceral, 5, Autosomal (HTX5)

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

Aliases & Classifications for Heterotaxy, Visceral, 5, Autosomal

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

Name: Heterotaxy, Visceral, 5, Autosomal 57 73
Situs Inversus Viscerum 57 73 6
Heterotaxy, Visceral, 5 57 29 13
Visceral Heterotaxy 5, Autosomal 29 6
Htx5 57 73
Siv 57 73
Heterotaxy, Visceral, Autosomal, Type 5 39
Situs Inversus Viscerum; Siv 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
heterotaxy, visceral, 5, autosomal:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Heterotaxy, Visceral, 5, Autosomal

UniProtKB/Swiss-Prot : 73 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 be associated with a 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 situs inversus viscerum, is related to visceral heterotaxy and situs inversus. An important gene associated with Heterotaxy, Visceral, 5, Autosomal is NODAL (Nodal Growth Differentiation Factor). Affiliated tissues include heart, spleen and kidney, 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) (Updated 05-Mar-2021)

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 180)
# Related Disease Score Top Affiliating Genes
1 visceral heterotaxy 29.6 NODAL DNAH7
2 situs inversus 11.6
3 dextrocardia with situs inversus 11.4
4 swine influenza 11.2
5 immune deficiency disease 10.9
6 vaccinia 10.7
7 human immunodeficiency virus type 1 10.7
8 acquired immunodeficiency syndrome 10.6
9 encephalitis 10.6
10 cholecystitis 10.5
11 appendicitis 10.5
12 bronchiectasis 10.5
13 dextrocardia 10.5
14 human immunodeficiency virus infectious disease 10.4
15 volvulus of midgut 10.3
16 kartagener syndrome 10.3
17 cholelithiasis 10.3
18 klippel-feil syndrome 10.3
19 stomatitis 10.3
20 cytokine deficiency 10.3
21 lymphopenia 10.2
22 morphine dependence 10.2
23 measles 10.2
24 prune belly syndrome 10.2
25 pectus excavatum 10.2
26 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.2
27 atrioventricular block 10.2
28 umbilical hernia 10.2
29 pyelonephritis 10.2
30 nephrotic syndrome 10.2
31 goiter 10.2
32 pyloric stenosis 10.2
33 substernal goiter 10.2
34 obstructive jaundice 10.2
35 echinococcosis 10.2
36 duodenal ulcer 10.2
37 thyroid gland follicular carcinoma 10.2
38 gastritis 10.2
39 kidney disease 10.2
40 acute pyelonephritis 10.2
41 peptic ulcer disease 10.2
42 chromosomal triplication 10.2
43 double discordia 10.2
44 left-sided gallbladder 10.2
45 common mesentery 10.2
46 thyroid carcinoma 10.2
47 myocarditis 10.2
48 influenza 10.2
49 neuropathy 10.2
50 mycobacterium tuberculosis 1 10.1

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 31 HP:0001511
2 atrial septal defect 31 HP:0001631
3 ventricular septal defect 31 HP:0001629
4 abdominal situs inversus 31 HP:0003363
5 abnormality of the respiratory system 31 HP:0002086
6 dextrocardia 31 HP:0001651
7 transposition of the great arteries 31 HP:0001669

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
Heart, Spleen, Kidney, Thyroid, Liver, Lung, Pancreas

Publications for Heterotaxy, Visceral, 5, Autosomal

Articles related to Heterotaxy, Visceral, 5, Autosomal:

(show top 50) (show all 123)
# Title Authors PMID Year
1
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. 6 57
19064609 2009
2
X-linked situs abnormalities result from mutations in ZIC3. 57 6
9354794 1997
3
Left, right ... which way to turn? 57
9354777 1997
4
Familial situs inversus and congenital heart defects. 57
3812559 1987
5
Paternal age and the occurrence of birth defects. 57
3788977 1986
6
Transposition of viscera in siblings. 57
15437259 1950
7
Left non-recurrent inferior laryngeal nerve in a patient with right-sided aortic arch and aberrant left subclavian artery. 61
32178945 2021
8
Successful endoscopic retrograde cholangiopancreatography using pancreatic guidewire placement for biliary cannulation in a patient with situs inversus and Billroth-I gastrectomy (with video). 61
31832558 2019
9
[Kartagener syndrome: neonatal diagnosis. A case report]. 61
31063320 2019
10
A colovesical fistula with a persistent descending mesocolon due to partial situs inversus: A case report. 61
28654851 2017
11
Successful catheter ablation of idiopathic premature ventricular contractions originating from the "right" ventricular outflow tract in a patient with dextrocardia and situs inversus viscerum. 61
26151713 2015
12
[Kartagener syndrome and papillary thyroid carcinoma: an unusual combination]. 61
26930919 2015
13
Therapeutic endoscopic retrograde cholangiopancreatography in a patient with situs inversus viscerum. 61
25987802 2015
14
Liver resection for hepatocellular carcinoma in patient with situs inversus viscerum. 61
23794154 2014
15
[Missed diagnosis and treatment discussion of Kartagener syndrome]. 61
23650700 2013
16
Left-sided gallbladder: an incidental finding on laparoscopic cholecystectomy. 61
22720865 2012
17
Situs inversus totalis with perforated duodenal ulcer: a case report. 61
21722405 2011
18
[Prune Belly syndrome complicated by pectus excavatum, spleen and left kidney congenital absence and situs inversus viscerum: a case report]. 61
21083994 2010
19
A case with balanced reciprocal translocation t(5;11)(q32;q24.2) and situs inversus viscerum. 61
20681226 2010
20
ERCP in complete situs inversus viscerum using a "mirror image" technique. 61
21113889 2010
21
Kartagener syndrome in a Nigerian African--a case report and literature review. 61
20120152 2009
22
[Clinical characteristics of primary ciliary dyskinesia in children]. 61
19099837 2008
23
Appendicitis and situs inversus viscerum in a 32-year-old female nigerian: a case report. 61
25161447 2008
24
A left nonrecurrent inferior laryngeal nerve in a patient with right-sided aorta, truncus arteriosus communis, and an aberrant left innominate artery. 61
18578615 2008
25
Left-sided gall bladder: Report of two cases. 61
19789667 2007
26
Nephrotic syndrome and situs inversus viscerum: correlation or coincidence. 61
16299692 2005
27
Laparoscopic cholecystectomy for left-sided gallbladder (sinistroposition). 61
16121888 2005
28
[Variations in the course of the inferior laryngeal nerve. Surgical anatomy, classification, diagnosis]. 61
14991182 2004
29
Gastrointestinal: situs inversus viscerum. 61
12423280 2002
30
[Left-sided gallbladder]. 61
12474520 2002
31
[Situs inversus viscerum]. 61
11528942 2001
32
Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. 61
11045589 2000
33
Corrected transposition of the great vessels and situs inversus viscerum in a 65-year-old oligosymptomatic woman. 61
10449703 1999
34
Laparoscopic cholecystectomy in two patients with symptomatic cholelithiasis and situs inversus totalis. 61
10805554 1999
35
[Perforated duodenal and stomach ulcers in complete situs inversus viscerum]. 61
9751985 1998
36
Complete situs inversus and broad thumbs and big toes with postaxial polydactyly. 61
9429152 1997
37
Adrenergic neurotransmitters and calcium ionophore-induced situs inversus viscerum in Xenopus laevis embryos. 61
9352205 1997
38
Laparoscopic cholecystectomy in situs inversus totalis. 61
8763185 1996
39
Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus. 61
8610013 1996
40
Developmental asymmetries in experimental animals. 61
8994204 1996
41
Follicular thyroid carcinoma and mediastinal goiter in a case of situs inversus viscerum. 61
8574804 1995
42
ERCP and laparoscopic cholecystectomy for cholangitis in a 66-year-old male with situs inversus. 61
7809812 1994
43
Laparoscopic cholecystectomy in a patient with empyema of the gallbladder and situs inversus. 61
1468403 1992
44
Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse. 61
1427890 1992
45
Periampullary carcinoma in a young female with situs inversus. 61
1428042 1992
46
[Appendicitis in patients with complete situs inversus viscerum]. 61
1447897 1992
47
Laparoscopic cholecystectomy and ERCP with sphincterotomy in an elderly patient with situs inversus. 61
1531164 1992
48
Laparoscopic cholecystectomy in a patient with situs inversus viscerum: a case report. 61
1531441 1992
49
legless insertional mutation: morphological, molecular, and genetic characterization. 61
1748282 1991
50
Genetically determined variation in the azygos vein in the mouse. 61
1805438 1991

Variations for Heterotaxy, Visceral, 5, Autosomal

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

6 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NODAL NODAL, 9-BP INS/24-BP DEL, NT700 Indel Pathogenic 8270
2 NODAL NM_018055.5(NODAL):c.446del (p.Gly149fs) Deletion Pathogenic 663619 rs1589152470 10:72195487-72195487 10:70435731-70435731
3 NODAL NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) SNV Pathogenic 986360 10:72195342-72195342 10:70435586-70435586
4 DNAH7 NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser) SNV Pathogenic 599649 rs770861172 2:196722306-196722306 2:195857582-195857582
5 DNAH7 NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp) SNV Pathogenic 599650 rs114621989 2:196602773-196602773 2:195738049-195738049
6 NODAL NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) SNV Pathogenic 8268 rs104894169 10:72195385-72195385 10:70435629-70435629
7 NODAL NM_018055.5(NODAL):c.891+2T>A SNV Likely pathogenic 571254 rs1564667078 10:72195040-72195040 10:70435284-70435284
8 NODAL NM_018055.5(NODAL):c.891+1G>A SNV Likely pathogenic 241245 rs878855044 10:72195041-72195041 10:70435285-70435285
9 NODAL NM_018055.5(NODAL):c.700_707del (p.Arg234fs) Deletion Likely pathogenic 545543 rs1564667180 10:72195226-72195233 10:70435470-70435477
10 NODAL NM_018055.5(NODAL):c.194-1G>T SNV Likely pathogenic 545544 rs1564667617 10:72195740-72195740 10:70435984-70435984
11 NODAL NM_018055.5(NODAL):c.972G>A (p.Leu324=) SNV Conflicting interpretations of pathogenicity 697481 rs143903715 10:72192764-72192764 10:70433008-70433008
12 NODAL NM_018055.5(NODAL):c.*121C>A SNV Uncertain significance 300297 rs578069296 10:72192571-72192571 10:70432815-70432815
13 NODAL NM_018055.5(NODAL):c.673G>A (p.Gly225Arg) SNV Uncertain significance 567292 rs1564667208 10:72195260-72195260 10:70435504-70435504
14 NODAL NM_018055.5(NODAL):c.203T>C (p.Val68Ala) SNV Uncertain significance 300311 rs886047105 10:72195730-72195730 10:70435974-70435974
15 NODAL NM_018055.5(NODAL):c.125C>T (p.Ala42Val) SNV Uncertain significance 300312 rs146471900 10:72201299-72201299 10:70441543-70441543
16 NODAL NM_018055.5(NODAL):c.393G>C (p.Arg131=) SNV Uncertain significance 300304 rs765235855 10:72195540-72195540 10:70435784-70435784
17 NODAL NM_018055.5(NODAL):c.*887C>T SNV Uncertain significance 300284 rs553447349 10:72191805-72191805 10:70432049-70432049
18 NODAL NM_018055.5(NODAL):c.819C>G (p.Ala273=) SNV Uncertain significance 877821 10:72195114-72195114 10:70435358-70435358
19 NODAL NM_018055.5(NODAL):c.702G>A (p.Arg234=) SNV Uncertain significance 877822 10:72195231-72195231 10:70435475-70435475
20 NODAL NM_018055.5(NODAL):c.670G>A (p.Glu224Lys) SNV Uncertain significance 877823 10:72195263-72195263 10:70435507-70435507
21 NODAL NM_018055.5(NODAL):c.555C>A (p.Pro185=) SNV Uncertain significance 877985 10:72195378-72195378 10:70435622-70435622
22 NODAL NM_018055.5(NODAL):c.*360A>G SNV Uncertain significance 878801 10:72192332-72192332 10:70432576-70432576
23 NODAL NM_018055.5(NODAL):c.*329A>C SNV Uncertain significance 878802 10:72192363-72192363 10:70432607-70432607
24 NODAL NM_018055.5(NODAL):c.*829T>G SNV Uncertain significance 879350 10:72191863-72191863 10:70432107-70432107
25 NODAL NM_018055.5(NODAL):c.*820G>C SNV Uncertain significance 879351 10:72191872-72191872 10:70432116-70432116
26 NODAL NM_018055.5(NODAL):c.*328G>A SNV Uncertain significance 879386 10:72192364-72192364 10:70432608-70432608
27 NODAL NM_018055.5(NODAL):c.*125A>C SNV Uncertain significance 879387 10:72192567-72192567 10:70432811-70432811
28 NODAL NM_018055.5(NODAL):c.512A>T (p.Lys171Met) SNV Uncertain significance 879450 10:72195421-72195421 10:70435665-70435665
29 NODAL NM_018055.5(NODAL):c.467C>T (p.Thr156Ile) SNV Uncertain significance 879451 10:72195466-72195466 10:70435710-70435710
30 NODAL NM_018055.5(NODAL):c.*729A>G SNV Uncertain significance 879713 10:72191963-72191963 10:70432207-70432207
31 NODAL NM_018055.5(NODAL):c.397C>T (p.Gln133Ter) SNV Uncertain significance 545545 rs1447874899 10:72195536-72195536 10:70435780-70435780
32 NODAL NM_018055.5(NODAL):c.679C>G (p.Leu227Val) SNV Uncertain significance 660583 rs1589152298 10:72195254-72195254 10:70435498-70435498
33 NODAL NM_018055.5(NODAL):c.658T>C (p.Trp220Arg) SNV Uncertain significance 407446 rs776168916 10:72195275-72195275 10:70435519-70435519
34 NODAL NM_018055.5(NODAL):c.254A>G (p.Gln85Arg) SNV Uncertain significance 835273 10:72195679-72195679 10:70435923-70435923
35 NODAL NM_018055.5(NODAL):c.661C>T (p.Arg221Trp) SNV Uncertain significance 841318 10:72195272-72195272 10:70435516-70435516
36 NODAL NM_018055.5(NODAL):c.355C>T (p.Pro119Ser) SNV Uncertain significance 849234 10:72195578-72195578 10:70435822-70435822
37 NODAL NM_018055.5(NODAL):c.347A>T (p.Gln116Leu) SNV Uncertain significance 859662 10:72195586-72195586 10:70435830-70435830
38 NODAL NM_018055.5(NODAL):c.107C>G (p.Ser36Trp) SNV Uncertain significance 947083 10:72201317-72201317 10:70441561-70441561
39 LOC111982866 NC_000010.10:g.(?_72179670)_(72360658_?)dup Duplication Uncertain significance 583472 10:72179670-72360658 10:70419914-70600902
40 NODAL NM_018055.5(NODAL):c.221C>T (p.Thr74Met) SNV Uncertain significance 300309 rs886047104 10:72195712-72195712 10:70435956-70435956
41 NODAL NM_018055.5(NODAL):c.*678G>A SNV Uncertain significance 300290 rs374692279 10:72192014-72192014 10:70432258-70432258
42 NODAL NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr) SNV Uncertain significance 300300 rs377663429 10:72195340-72195340 10:70435584-70435584
43 NODAL NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) SNV Uncertain significance 300301 rs752979542 10:72195383-72195383 10:70435627-70435627
44 NODAL NM_018055.5(NODAL):c.514C>G (p.Gln172Glu) SNV Uncertain significance 300302 rs886047102 10:72195419-72195419 10:70435663-70435663
45 NODAL NM_018055.5(NODAL):c.*836G>C SNV Uncertain significance 300286 rs886047098 10:72191856-72191856 10:70432100-70432100
46 NODAL NM_018055.5(NODAL):c.*676C>T SNV Uncertain significance 300292 rs886047100 10:72192016-72192016 10:70432260-70432260
47 NODAL NM_018055.5(NODAL):c.280C>T (p.Arg94Trp) SNV Uncertain significance 300308 rs778607015 10:72195653-72195653 10:70435897-70435897
48 NODAL NM_018055.5(NODAL):c.*480G>A SNV Uncertain significance 300293 rs886047101 10:72192212-72192212 10:70432456-70432456
49 NODAL NM_018055.5(NODAL):c.-9C>T SNV Uncertain significance 300313 rs756480830 10:72201432-72201432 10:70441676-70441676
50 NODAL NM_018055.5(NODAL):c.417C>T (p.Val139=) SNV Likely benign 300303 rs764201898 10:72195516-72195516 10:70435760-70435760

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

73
# Symbol AA change Variation ID SNP ID
1 NODAL p.Arg183Gln VAR_015111 rs104894169
2 NODAL p.Gly260Arg VAR_062281 rs121909283
3 NODAL p.Arg275Cys VAR_062282 rs781366461
4 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
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10 dbSNP
11 DGIdb
17 EFO
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20 GARD
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29 GTR
30 HMDB
31 HPO
32 ICD10
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44 MeSH
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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