HTX
MCID: HTR003
MIFTS: 44

Heterotaxy (HTX) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Heterotaxy

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Aliases & Descriptions for Heterotaxy:

Name: Heterotaxy 48 25
Heterotaxy Syndrome 48 24 25 27 68
Polysplenia Syndrome 24 27
Visceral Heterotaxy 48 25
Asplenia Syndrome 24 68
Ivemark Syndrome 24 25
Situs Ambiguus 48 25
 
Situs Ambiguus Viscerum 25
Lateralization Defect 48
Right Isomerism 25
Situs Ambiguous 48
Left Isomerism 25
Heterotaxia 48
Htx 25

Classifications:



Summaries for Heterotaxy

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NIH Rare Diseases:48 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 are TGF-beta signaling pathway (KEGG) and Mesodermal Commitment Pathway. Affiliated tissues include heart, spleen and lung, and related mouse phenotypes are craniofacial and liver/biliary system.

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

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

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1heterotaxy, visceral, 1, x-linked12.2
2heterotaxy, visceral, 2, autosomal12.2
3heterotaxy, visceral, 4, autosomal12.2
4heterotaxy, visceral, 512.1
5heterotaxy, visceral, 6, autosomal recessive12.1
6heterotaxy, visceral, 7, autosomal12.1
7heterotaxy, visceral, 3, autosomal12.0
8heterotaxy, visceral, 8, autosomal12.0
9visceral heterotaxy11.9
10laterality defects dominant11.8
11acvr2b-related visceral heterotaxy11.8
12cfc1-related visceral heterotaxy11.8
13nodal-related visceral heterotaxy11.8
14zic3-related visceral heterotaxy11.8
15double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy11.7
16lefty2-related visceral heterotaxy11.7
17cardiac anomalies-heterotaxy syndrome11.7
18right atrial isomerism11.0
19atrioventricular septal defect 210.9
20asplenia, isolated congenital10.9
21agenesis of the dorsal pancreas10.7
22ciliary dyskinesia, primary, 2510.7
23ciliary dyskinesia, primary, 2610.7
24short-rib thoracic dysplasia 7 with or without polydactyly10.5
25ciliary dyskinesia, primary, 2810.5
26ciliary dyskinesia, primary, 2310.5
27ciliary dyskinesia, primary, 1310.5
28ciliary dyskinesia, primary, 1710.5
29ciliary dyskinesia, primary, 3010.5
30ciliary dyskinesia, primary, 2010.5
31ciliary dyskinesia, primary, 210.5
32ciliary dyskinesia, primary, 9, with or without situs inversus10.5
33primary ciliary dyskinesia 3510.5
34heart disease10.2
35chromosome xq26.3 duplication syndrome10.1ACVR2B, ZIC3
36hepatitis10.0
37keratopathy10.0DNAH5, NODAL
38primary ciliary dyskinesia10.0
39gaucher disease, atypical10.0DNAH5, NODAL
40ichthyosis9.9CFC1, NODAL
41trichodental syndrome9.9CFAP53, CFC1, ZIC3
42straddling and/or overriding mitral valve9.9ACVR2B, CFAP53
43atrioventricular septal defect9.9
44situs inversus9.9
45congenital diarrhea 7 with exudative enteropathy9.9ACVR2B, CFC1, ZIC3
46arteriovenous malformation9.8
47pulmonary arteriovenous malformation9.8
48levocardia9.8
49lymphoepithelioma-like thymic carcinoma9.8CFAP53, DNAH5, NODAL
50proliferative fasciitis9.8ACVR2B, CFAP53, NODAL

Graphical network of the top 20 diseases related to Heterotaxy:



Diseases related to heterotaxy

Symptoms & Phenotypes for Heterotaxy

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MGI Mouse Phenotypes related to Heterotaxy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.6DNAH5, MMP21, NODAL, ZIC3
2MP:00053708.9ACVR2B, DNAH5, MMP21, NODAL, ZIC3
3MP:00053818.7DNAH5, MMP21, NODAL, PKD1L1, ZIC3
4MP:00053858.1ACVR2B, DNAH5, MMP21, NODAL, PKD1L1, ZIC3
5MP:00053908.1ACVR2B, DNAH5, MMP21, NODAL, ZIC3
6MP:00053788.1ACVR2B, DNAH5, MMP21, NODAL, PKD1L1, ZIC3
7MP:00053888.0ACVR2B, DNAH5, MMP21, NODAL, PKD1L1, ZIC3

Drugs & Therapeutics for Heterotaxy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts4067
2Kavanutraceutical1619000-38-8

Interventional clinical trials:

idNameStatusNCT IDPhase
1Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study DataCompletedNCT01929967
2Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective StudyCompletedNCT01591928
3Dyskinesia, Heterotaxy and Congenital Heart DiseaseCompletedNCT00608556
4Genetic Analysis of Left-Right Axis FormationsCompletedNCT00341133
5Molecular Genetics of Heterotaxy and Related Congenital Heart DefectsRecruitingNCT02432079
6Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224
7Racial Distribution of Heterotaxy SyndromeTerminatedNCT00485654

Search NIH Clinical Center for Heterotaxy

Genetic Tests for Heterotaxy

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Genetic tests related to Heterotaxy:

id Genetic test Affiliating Genes
1 Heterotaxy Syndrome27 24 ZIC3
2 Polysplenia27

Anatomical Context for Heterotaxy

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MalaCards organs/tissues related to Heterotaxy:

36
Heart, Spleen, Lung, Liver, Atrioventricular node, B cells, Testes

Publications for Heterotaxy

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Articles related to Heterotaxy:

(show top 50)    (show all 276)
idTitleAuthorsYear
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

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Expression for genes affiliated with Heterotaxy

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Search GEO for disease gene expression data for Heterotaxy.

Pathways for genes affiliated with Heterotaxy

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GO Terms for genes affiliated with Heterotaxy

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

idNameGO IDScoreTop Affiliating Genes
1cellular_componentGO:00055759.7CFAP53, CFC1, DNAH5
2ciliumGO:00059298.6CFAP53, DNAH5, PKD1L1

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1heart loopingGO:000194710.4NODAL, ZIC3
2gastrulationGO:000736910.4CFC1, NODAL
3nodal signaling pathwayGO:003809210.2CFC1, NODAL
4BMP signaling pathwayGO:003050910.2ACVR2B, NODAL
5gastrulation with mouth forming secondGO:000170210.2ACVR2B, NODAL
6cilium movementGO:000334110.2CFAP53, DNAH5
7pattern specification processGO:000738910.0ACVR2B, ZIC3
8positive regulation of activin receptor signaling pathwayGO:00329279.9ACVR2B, NODAL
9anterior/posterior pattern specificationGO:00099529.8ACVR2B, NODAL, ZIC3
10lung developmentGO:00303249.8ACVR2B, NODAL, ZIC3
11heart developmentGO:00075079.6ACVR2B, DNAH5, NODAL
12regulation of signal transductionGO:00099669.4ACVR2B, NODAL
13multicellular organism developmentGO:00072759.4CFAP53, CFC1, NODAL, ZIC3
14determination of left/right symmetryGO:00073688.0ACVR2B, CFAP53, CFC1, DNAH5, MMP21, NODAL

Sources for Heterotaxy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet