HTX5
MCID: HTR021
MIFTS: 34

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 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 recessive inheritance autosomal dominant 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 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 58)
# Related Disease Score Top Affiliating Genes
1 swine influenza 11.6
2 situs inversus 11.6
3 dextrocardia with situs inversus 11.4
4 alzheimer disease 5 10.3
5 vaccinia 10.3
6 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.3
7 influenza 10.3
8 bronchiectasis 10.3
9 rubella 10.2
10 hepatocellular carcinoma 10.1
11 renal cell carcinoma, nonpapillary 10.1
12 thyroid cancer, nonmedullary, 2 10.1
13 ciliary dyskinesia, primary, 1 10.1
14 kartagener syndrome 10.1
15 cholelithiasis 10.1
16 klippel-feil syndrome 10.1
17 nephrotic syndrome 10.1
18 goiter 10.1
19 cholecystitis 10.1
20 appendicitis 10.1
21 dextrocardia 10.1
22 double discordia 10.1
23 encephalitis 10.1
24 human immunodeficiency virus type 1 10.1
25 cryptosporidiosis 10.1
26 human immunodeficiency virus infectious disease 10.1
27 pneumonia 10.1
28 neuropathy 10.1
29 stomatitis 10.1
30 lymphoma 10.0
31 central nervous system disease 10.0
32 peripheral nervous system disease 10.0
33 lymphopenia 10.0
34 acquired immunodeficiency syndrome 10.0
35 nervous system disease 10.0
36 bacterial pneumonia 10.0
37 kaposi sarcoma 9.8
38 carney complex, type 1 9.8
39 triiodothyronine receptor auxiliary protein 9.8
40 caronte 9.8
41 alcoholic hepatitis 9.8
42 brain injury 9.8
43 hepatitis 9.8
44 exanthem 9.8
45 adenoid cystic carcinoma 9.8
46 meningoencephalitis 9.8
47 sarcoma 9.8
48 pertussis 9.8
49 rabies 9.8
50 pneumocystosis 9.8

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

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

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 abnormality of the respiratory system 32 HP:0002086
5 dextrocardia 32 HP:0001651
6 transposition of the great arteries 32 HP:0001669
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, Appendix, Brain

Publications for Heterotaxy, Visceral, 5, Autosomal

Articles related to Heterotaxy, Visceral, 5, Autosomal:

(show all 30)
# 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
Therapeutic endoscopic retrograde cholangiopancreatography in a patient with situs inversus viscerum. ( 25987802 )
2015
3
Liver resection for hepatocellular carcinoma in patient with situs inversus viscerum. ( 23794154 )
2013
4
ERCP in complete situs inversus viscerum using a "mirror image" technique. ( 21113889 )
2010
5
A case with balanced reciprocal translocation t(5;11)(q32;q24.2) and situs inversus viscerum. ( 20681226 )
2010
6
Appendicitis and situs inversus viscerum in a 32-year-old female nigerian: a case report. ( 25161447 )
2008
7
Nephrotic syndrome and situs inversus viscerum: correlation or coincidence. ( 16299692 )
2005
8
Gastrointestinal: situs inversus viscerum. ( 12423280 )
2002
9
Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. ( 11045589 )
2000
10
Corrected transposition of the great vessels and situs inversus viscerum in a 65-year-old oligosymptomatic woman. ( 10449703 )
1999
11
Renal cell carcinoma and situs inversus viscerum. ( 9817342 )
1998
12
Adrenergic neurotransmitters and calcium ionophore-induced situs inversus viscerum in Xenopus laevis embryos. ( 9352205 )
1997
13
Follicular thyroid carcinoma and mediastinal goiter in a case of situs inversus viscerum. ( 8574804 )
1995
14
Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse. ( 1427890 )
1992
15
Laparoscopic cholecystectomy in a patient with situs inversus viscerum: a case report. ( 1531441 )
1992
16
The murine situs inversus viscerum (iv) gene responsible for visceral asymmetry is linked tightly to the Igh-C cluster on chromosome 12. ( 2365357 )
1990
17
Prenatal diagnosis of cardiovascular malformations in the fetus with situs inversus viscerum during the second trimester of pregnancy. ( 3091646 )
1986
18
Situs inversus viscerum associated with intermittent midgut volvulus. ( 7079827 )
1982
19
[Bronchiectasis in patients with situs inversus viscerum (Kartagener syndrome) (author's transl)]. ( 6973246 )
1981
20
Observations on some additional abnormalities in situs inversus viscerum. ( 1002609 )
1976
21
Perforated appendix in situs inversus viscerum. A case report. ( 1251292 )
1976
22
Isolated laevocardia with situs inversus viscerum. ( 13855788 )
1960
23
Situs inversus viscerum. ( 13270937 )
1955
24
Practical diagnostic features and clinical implications of situs inversus viscerum totalis. ( 13190299 )
1954
25
Situs inversus viscerum and bronchiectasis; report of a Bantu case associated with chronic cor pulmonale and renal anomalies. ( 14950400 )
1952
26
Situs inversus viscerum; report of two cases. ( 14811357 )
1951
27
Situs inversus viscerum in conjoined triplets of the brook trout. ( 18145518 )
1949
28
Cholecystitis and cholelithiasis with complete situs inversus viscerum; report of case. ( 18102175 )
1948
29
Situs inversus viscerum in conjoined twins of the brook trout. ( 20994832 )
1946
30
Situs inversus viscerum in a white rat (Mus norvegicus). ( 20997983 )
1946

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 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 NODAL NM_018055.4(NODAL): c.548G> A (p.Arg183Gln) single nucleotide variant Uncertain significance rs104894169 GRCh37 Chromosome 10, 72195385: 72195385
2 NODAL NM_018055.4(NODAL): c.548G> A (p.Arg183Gln) single nucleotide variant Uncertain significance rs104894169 GRCh38 Chromosome 10, 70435629: 70435629
3 NODAL NM_018055.4(NODAL): c.778G> A (p.Gly260Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121909283 GRCh37 Chromosome 10, 72195155: 72195155
4 NODAL NM_018055.4(NODAL): c.778G> A (p.Gly260Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121909283 GRCh38 Chromosome 10, 70435399: 70435399
5 NODAL NODAL, 9-BP INS/24-BP DEL, NT700 indel Pathogenic
6 NODAL NODAL, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
7 NODAL NM_018055.4(NODAL): c.904C> T (p.Arg302Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150819707 GRCh37 Chromosome 10, 72192832: 72192832
8 NODAL NM_018055.4(NODAL): c.904C> T (p.Arg302Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150819707 GRCh38 Chromosome 10, 70433076: 70433076
9 NODAL NM_018055.4(NODAL): c.662G> A (p.Arg221Gln) single nucleotide variant Likely benign rs138681813 GRCh38 Chromosome 10, 70435515: 70435515
10 NODAL NM_018055.4(NODAL): c.662G> A (p.Arg221Gln) single nucleotide variant Likely benign rs138681813 GRCh37 Chromosome 10, 72195271: 72195271
11 NODAL NM_018055.4(NODAL): c.891+1G> A single nucleotide variant Likely pathogenic rs878855044 GRCh37 Chromosome 10, 72195041: 72195041
12 NODAL NM_018055.4(NODAL): c.891+1G> A single nucleotide variant Likely pathogenic rs878855044 GRCh38 Chromosome 10, 70435285: 70435285
13 NODAL NM_018055.4(NODAL): c.588C> G (p.Leu196=) single nucleotide variant Benign/Likely benign rs2231959 GRCh38 Chromosome 10, 70435589: 70435589
14 NODAL NM_018055.4(NODAL): c.588C> G (p.Leu196=) single nucleotide variant Benign/Likely benign rs2231959 GRCh37 Chromosome 10, 72195345: 72195345
15 NODAL NM_018055.4(NODAL): c.658T> C (p.Trp220Arg) single nucleotide variant Uncertain significance rs776168916 GRCh38 Chromosome 10, 70435519: 70435519
16 NODAL NM_018055.4(NODAL): c.658T> C (p.Trp220Arg) single nucleotide variant Uncertain significance rs776168916 GRCh37 Chromosome 10, 72195275: 72195275
17 NODAL NM_018055.4(NODAL): c.870G> T (p.Pro290=) single nucleotide variant Likely benign rs763525961 GRCh37 Chromosome 10, 72195063: 72195063
18 NODAL NM_018055.4(NODAL): c.870G> T (p.Pro290=) single nucleotide variant Likely benign rs763525961 GRCh38 Chromosome 10, 70435307: 70435307
19 NODAL NM_018055.4(NODAL): c.759G> A (p.Gln253=) single nucleotide variant Likely benign GRCh38 Chromosome 10, 70435418: 70435418
20 NODAL NM_018055.4(NODAL): c.759G> A (p.Gln253=) single nucleotide variant Likely benign GRCh37 Chromosome 10, 72195174: 72195174
21 NODAL NM_018055.4(NODAL): c.9C> T (p.Ala3=) single nucleotide variant Likely benign rs376002393 GRCh38 Chromosome 10, 70441659: 70441659
22 NODAL NM_018055.4(NODAL): c.9C> T (p.Ala3=) single nucleotide variant Likely benign rs376002393 GRCh37 Chromosome 10, 72201415: 72201415
23 NODAL NM_018055.4(NODAL): c.891+2T> A single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 70435284: 70435284
24 NODAL NM_018055.4(NODAL): c.891+2T> A single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 72195040: 72195040
25 NODAL NM_018055.4(NODAL): c.673G> A (p.Gly225Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 72195260: 72195260
26 NODAL NM_018055.4(NODAL): c.673G> A (p.Gly225Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 70435504: 70435504
27 NODAL NC_000010.11: g.(?_70419914)_(70600902_?)dup duplication Uncertain significance GRCh37 Chromosome 10, 72179670: 72360658
28 NODAL NC_000010.11: g.(?_70419914)_(70600902_?)dup duplication Uncertain significance GRCh38 Chromosome 10, 70419914: 70600902
29 NODAL NM_018055.4(NODAL): c.216C> T (p.Asn72=) single nucleotide variant Benign/Likely benign rs138195571 GRCh38 Chromosome 10, 70435961: 70435961
30 NODAL NM_018055.4(NODAL): c.216C> T (p.Asn72=) single nucleotide variant Benign/Likely benign rs138195571 GRCh37 Chromosome 10, 72195717: 72195717
31 NODAL NM_018055.4(NODAL): c.357C> T (p.Pro119=) single nucleotide variant Benign/Likely benign rs77151171 GRCh38 Chromosome 10, 70435820: 70435820
32 NODAL NM_018055.4(NODAL): c.357C> T (p.Pro119=) single nucleotide variant Benign/Likely benign rs77151171 GRCh37 Chromosome 10, 72195576: 72195576

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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