HTX
MCID: HTR003
MIFTS: 44

Heterotaxy (HTX) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Heterotaxy

Aliases & Descriptions for Heterotaxy:

Name: Heterotaxy 50 25
Heterotaxy Syndrome 50 24 25 29 69
Polysplenia Syndrome 24 29
Visceral Heterotaxy 50 25
Asplenia Syndrome 24 69
Ivemark Syndrome 24 25
Situs Ambiguus 50 25
Situs Ambiguus Viscerum 25
Lateralization Defect 50
Situs Ambiguous 50
Right Isomerism 25
Left Isomerism 25
Heterotaxia 50
Htx 25

Classifications:



Summaries for Heterotaxy

NIH Rare Diseases : 50 heterotaxy is a condition characterized by internal organs that are not arranged as would be expected in the chest and abdomen. organs are expected to be in a particular orientation inside of the body, known as situs solitus. heterotaxy occurs when the organs are not in this typical orientation, but are instead in different positions in the body. this most commonly causes complications with the heart, lungs, liver, spleen, and intestines. specific symptoms include not getting enough oxygen throughout the body, breathing difficulties, increased risk for infection, and problems digesting food. heterotaxy may be caused by genetic changes (mutations), exposures to toxins while a woman is pregnant causing the baby to have heterotaxy, or the condition may occur sporadically. the condition is typically diagnosed through imaging such as an echocardiogram or an mri. treatment depends on the specific symptoms of each person, but typically includes heart surgery and monitoring by a team of specialists.  last updated: 3/20/2017

MalaCards based summary : Heterotaxy, also known as heterotaxy syndrome, is related to heterotaxy, visceral, 1, x-linked and heterotaxy, visceral, 2, autosomal. An important gene associated with Heterotaxy is ZIC3 (Zic Family Member 3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. The drugs Liver Extracts and Kava have been mentioned in the context of this disorder. Affiliated tissues include heart, spleen and lung, and related phenotypes are cardiovascular system and growth/size/body region

Genetics Home Reference : 25 Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.

Related Diseases for Heterotaxy

Diseases related to Heterotaxy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
id Related Disease Score Top Affiliating Genes
1 heterotaxy, visceral, 1, x-linked 12.2
2 heterotaxy, visceral, 2, autosomal 12.2
3 heterotaxy, visceral, 4, autosomal 12.2
4 heterotaxy, visceral, 5 12.1
5 heterotaxy, visceral, 6, autosomal recessive 12.1
6 heterotaxy, visceral, 7, autosomal 12.1
7 heterotaxy, visceral, 8, autosomal 12.0
8 heterotaxy, visceral, 3, autosomal 12.0
9 visceral heterotaxy 11.9
10 laterality defects dominant 11.8
11 acvr2b-related visceral heterotaxy 11.8
12 cfc1-related visceral heterotaxy 11.8
13 nodal-related visceral heterotaxy 11.8
14 zic3-related visceral heterotaxy 11.8
15 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 11.7
16 lefty2-related visceral heterotaxy 11.7
17 cardiac anomalies-heterotaxy syndrome 11.7
18 right atrial isomerism 11.0
19 atrioventricular septal defect 2 10.9
20 asplenia, isolated congenital 10.9
21 agenesis of the dorsal pancreas 10.7
22 ciliary dyskinesia, primary, 26 10.7
23 ciliary dyskinesia, primary, 25 10.7
24 ciliary dyskinesia, primary, 30 10.5
25 short-rib thoracic dysplasia 7 with or without polydactyly 10.5
26 ciliary dyskinesia, primary, 20 10.5
27 ciliary dyskinesia, primary, 2 10.5
28 primary ciliary dyskinesia 35 10.5
29 ciliary dyskinesia, primary, 9, with or without situs inversus 10.5
30 ciliary dyskinesia, primary, 28 10.5
31 ciliary dyskinesia, primary, 23 10.5
32 ciliary dyskinesia, primary, 13 10.5
33 ciliary dyskinesia, primary, 17 10.5
34 heart disease 10.2
35 chromosome xq26.3 duplication syndrome 10.1 ACVR2B ZIC3
36 hepatitis 10.0
37 keratopathy 10.0 DNAH5 NODAL
38 primary ciliary dyskinesia 10.0
39 gaucher disease, atypical 10.0 DNAH5 NODAL
40 ichthyosis 9.9 CFC1 NODAL
41 trichodental syndrome 9.9 CFAP53 CFC1 ZIC3
42 straddling and/or overriding mitral valve 9.9 ACVR2B CFAP53
43 atrioventricular septal defect 9.9
44 situs inversus 9.9
45 congenital diarrhea 7 with exudative enteropathy 9.9 ACVR2B CFC1 ZIC3
46 pulmonary arteriovenous malformation 9.8
47 arteriovenous malformation 9.8
48 levocardia 9.8
49 lymphoepithelioma-like thymic carcinoma 9.8 CFAP53 DNAH5 NODAL
50 proliferative fasciitis 9.8 ACVR2B CFAP53 NODAL

Graphical network of the top 20 diseases related to Heterotaxy:



Diseases related to Heterotaxy

Symptoms & Phenotypes for Heterotaxy

MGI Mouse Phenotypes related to Heterotaxy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.88 ACVR2B DNAH5 MMP21 NODAL PKD1L1 ZIC3
2 growth/size/body region MP:0005378 9.73 PKD1L1 ZIC3 ACVR2B DNAH5 MMP21 NODAL
3 digestive/alimentary MP:0005381 9.72 DNAH5 MMP21 NODAL PKD1L1 ZIC3
4 craniofacial MP:0005382 9.67 DNAH5 MMP21 NODAL ZIC3
5 liver/biliary system MP:0005370 9.55 ACVR2B DNAH5 MMP21 NODAL ZIC3
6 respiratory system MP:0005388 9.43 ACVR2B DNAH5 MMP21 NODAL PKD1L1 ZIC3
7 skeleton MP:0005390 9.02 ACVR2B DNAH5 MMP21 NODAL ZIC3

Drugs & Therapeutics for Heterotaxy

Drugs for Heterotaxy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts
2 Kava Nutraceutical 9000-38-8

Interventional clinical trials:


id Name Status NCT ID Phase
1 Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study Data Completed NCT01929967
2 Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective Study Completed NCT01591928
3 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
4 Genetic Analysis of Left-Right Axis Formations Completed NCT00341133
5 Molecular Genetics of Heterotaxy and Related Congenital Heart Defects Recruiting NCT02432079
6 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
7 Racial Distribution of Heterotaxy Syndrome Terminated NCT00485654

Search NIH Clinical Center for Heterotaxy

Genetic Tests for Heterotaxy

Genetic tests related to Heterotaxy:

id Genetic test Affiliating Genes
1 Heterotaxy Syndrome 29 24 ZIC3
2 Polysplenia 29

Anatomical Context for Heterotaxy

MalaCards organs/tissues related to Heterotaxy:

39
Heart, Spleen, Lung, Liver, Testes, B Cells, Atrioventricular Node

Publications for Heterotaxy

Articles related to Heterotaxy:

(show top 50) (show all 276)
id Title Authors Year
1
Bacteremia in Patients with Heterotaxy: A Review and Implications for Management. ( 27425254 )
2016
2
Evaluating a management strategy for malrotation in heterotaxy patients. ( 26968699 )
2016
3
Fetal Situs, Isomerism, Heterotaxy Syndrome: Diagnostic Evaluation and Implication for Postnatal Management. ( 27844411 )
2016
4
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. ( 26918822 )
2016
5
The concept of "palliation" in children with heterotaxy syndrome. ( 27085619 )
2016
6
When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome. ( 26991659 )
2016
7
Radiologic Considerations in Heterotaxy: The Need for Detailed Anatomic Evaluation. ( 26973805 )
2016
8
Heterotaxy syndrome with and without spleen: Different infection risk and management. ( 27864025 )
2016
9
Twin Atrioventricular Nodal Reentrant Tachycardia Associated with Heterotaxy Syndrome with Malaligned Atrioventricular Canal Defect and Atrioventricular Discordance. ( 26920197 )
2016
10
The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5. ( 27618959 )
2016
11
Fontan Operation in a Patient with Severe Hypoplastic Right Pulmonary Artery, Single Ventricle, and Heterotaxy Syndrome. ( 27713611 )
2016
12
Heterotaxy in Caenorhabditis: widespread natural variation in left-right arrangement of the major organs. ( 27821534 )
2016
13
Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy. ( 26910255 )
2016
14
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy. ( 27406248 )
2016
15
Expanding the Limits of Posterior Aortic Translocation: Biventricular Correction of Complex Transposition With Complete Atrioventricular Septal Defect and Heterotaxy. ( 26777936 )
2016
16
Predictors of poor outcome among children with heterotaxy syndrome: a retrospective review. ( 27843561 )
2016
17
Single institution experience with the Ladd's procedure in patients with heterotaxy and stage I palliated single-ventricle. ( 27610349 )
2016
18
"Twin" Biliary Trees in a Patient with Heterotaxy Syndrome. ( 27504813 )
2016
19
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways. ( 27637763 )
2016
20
Cardiopulmonary Exercise Testing in Fontan Patients With and Without Isomerism (Heterotaxy) as Compared to Patients With Primary Ciliary Dyskinesia and Subjects With Structurally Normal Hearts. ( 27878633 )
2016
21
An unusual case of Meckel-Gruber syndrome (MKS) associated with visceroatrial heterotaxy and facial anomalies. ( 26982535 )
2016
22
Screening and Treatment of Intestinal Rotational Abnormalities inA Heterotaxy: A Systematic Review and Meta-Analysis. ( 26868865 )
2016
23
Outcomes of multistage palliation of infants with functional single ventricle and heterotaxy syndrome. ( 27085618 )
2016
24
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. ( 27821535 )
2016
25
Impact of Era, Type of Isomerism, and Ventricular Morphology on Survival in Heterotaxy: Implications for Therapeutic Management. ( 26714995 )
2016
26
Pulmonary Hypertension in a Patient With Congenital Heart Defects and Heterotaxy Syndrome. ( 27660582 )
2016
27
Racial disparities in heterotaxy syndrome. ( 26333177 )
2015
28
Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia. ( 25765999 )
2015
29
Duplication and deletion of CFC1 associated with heterotaxy syndrome. ( 25423076 )
2015
30
Neonatal Repair in a Patient With Heterotaxy, Truncus Arteriosus, Pulmonary Artery Sling, and Tracheal Stenosis. ( 26652536 )
2015
31
Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy. ( 26180693 )
2015
32
Comparison of situs ambiguous patterns between heterotaxy syndromes with polysplenia and asplenia. ( 26304785 )
2015
33
Is Screening of Intestinal Foregut Anatomy in Heterotaxy Patients Really Necessary?: A Systematic Review in Search of the Evidence. ( 26704743 )
2015
34
Orthotopic Heart Transplantation in an Adult Patient with Heterotaxy Syndrome: Surgical Implications. ( 26450654 )
2015
35
Heterotaxy in Southern Nevada: Prenatal Detection and Epidemiology. ( 25586256 )
2015
36
Prenatal MRI Diagnosis of Hirschsprung's Disease at 29 Weeks' Gestational Age in a Fetus with Heterotaxy and Polysplenia Syndrome. ( 25677577 )
2015
37
A rare case of heterotaxy and left ventricular non-compaction in an adult. ( 26323941 )
2015
38
Contemporary Outcomes of Surgical Repair of Total Anomalous Pulmonary Venous Connection in Patients With Heterotaxy Syndrome. ( 25912749 )
2015
39
Invited Commentary: Biventricular Repair in Heterotaxy Patients. ( 25870337 )
2015
40
Low Immunoglobulin M Memory B Cell percentage in patients with Heterotaxy Syndrome Correlates with the Risk of Severe Bacterial Infection. ( 26524717 )
2015
41
Heterotaxy and intestinal rotation anomalies: 20A years experience at a UK regional paediatric surgery centre. ( 26243388 )
2015
42
Heterotaxy syndrome with esophageal atresia. ( 25648294 )
2015
43
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. ( 26437028 )
2015
44
Extracardiac anomalies in prenatally diagnosed heterotaxy syndromes. ( 25847110 )
2015
45
Isomerism or heterotaxy: which term leads to better understanding? ( 26088959 )
2015
46
Decreased baseline variability on fetal heart rate pattern in a fetus with heterotaxy syndrome. ( 26421346 )
2015
47
Slow pathway ablation in abdominal visceral heterotaxy with azygos continuation. ( 25829475 )
2015
48
Cardiac and Non-Cardiac Abnormalities in Heterotaxy Syndrome. ( 26612104 )
2015
49
Heterotaxy Syndrome: Proceedings From the 10th International PCICS Meeting. ( 26467876 )
2015
50
Determining bronchial morphology for the purposes of segregating so-called heterotaxy. ( 26159655 )
2015

Variations for Heterotaxy

ClinVar genetic disease variations for Heterotaxy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh37 Chromosome 19, 18979844: 18979844
2 PKD1L1 NM_138295.4(PKD1L1): c.6473+2_6473+3delTG deletion Pathogenic rs528302390 GRCh38 Chromosome 7, 47831214: 47831215
3 PKD1L1 NM_138295.4(PKD1L1): c.5072G> C (p.Cys1691Ser) single nucleotide variant Pathogenic/Likely pathogenic rs886037834 GRCh38 Chromosome 7, 47846960: 47846960
4 GUCY2C NM_004963.3(GUCY2C): c.410T> C (p.Leu137Ser) single nucleotide variant Pathogenic rs1057519441 GRCh37 Chromosome 12, 14836177: 14836177

Expression for Heterotaxy

Search GEO for disease gene expression data for Heterotaxy.

Pathways for Heterotaxy

Pathways related to Heterotaxy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.81 ACVR2B NODAL ZIC3
2 11.27 ACVR2B NODAL ZIC3
3 11.18 ACVR2B NODAL
4
Show member pathways
10.5 ACVR2B CFC1 NODAL

GO Terms for Heterotaxy

Cellular components related to Heterotaxy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular_component GO:0005575 9.13 CFAP53 CFC1 DNAH5
2 cilium GO:0005929 8.8 CFAP53 DNAH5 PKD1L1

Biological processes related to Heterotaxy according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.83 CFAP53 CFC1 NODAL ZIC3
2 heart development GO:0007507 9.63 ACVR2B DNAH5 NODAL
3 BMP signaling pathway GO:0030509 9.54 ACVR2B NODAL
4 heart looping GO:0001947 9.51 NODAL ZIC3
5 lung development GO:0030324 9.5 ACVR2B NODAL ZIC3
6 pattern specification process GO:0007389 9.49 ACVR2B ZIC3
7 regulation of signal transduction GO:0009966 9.48 ACVR2B NODAL
8 gastrulation GO:0007369 9.43 CFC1 NODAL
9 anterior/posterior pattern specification GO:0009952 9.43 ACVR2B NODAL ZIC3
10 cilium movement GO:0003341 9.4 CFAP53 DNAH5
11 gastrulation with mouth forming second GO:0001702 9.37 ACVR2B NODAL
12 determination of left/right symmetry GO:0007368 9.17 ACVR2B CFAP53 CFC1 DNAH5 MMP21 NODAL
13 positive regulation of activin receptor signaling pathway GO:0032927 9.16 ACVR2B NODAL
14 nodal signaling pathway GO:0038092 8.96 CFC1 NODAL

Sources for Heterotaxy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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