MCID: HTR003
MIFTS: 42

Heterotaxy 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
Heterotaxy, Visceral, 2, Autosomal 68
 
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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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.

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 Signaling pathways regulating pluripotency of stem cells and Signaling by NODAL. Affiliated tissues include heart, spleen and liver, and related mouse phenotypes are liver/biliary system and respiratory system.

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 89)
idRelated DiseaseScoreTop Affiliating Genes
1heterotaxy, visceral, 1, x-linked12.3
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
8visceral heterotaxy11.9
9laterality defects dominant11.8
10acvr2b-related visceral heterotaxy11.8
11cfc1-related visceral heterotaxy11.8
12nodal-related visceral heterotaxy11.8
13zic3-related visceral heterotaxy11.8
14double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy11.7
15lefty2-related visceral heterotaxy11.7
16cardiac anomalies-heterotaxy syndrome11.7
17renal-hepatic-pancreatic dysplasia11.0
18atrioventricular septal defect 210.9
19asplenia, isolated congenital10.9
20right atrial isomerism10.8
21ciliary dyskinesia, primary, 2510.7
22ciliary dyskinesia, primary, 2610.7
23short-rib thoracic dysplasia 7 with or without polydactyly10.5
24ciliary dyskinesia, primary, 2810.5
25ciliary dyskinesia, primary, 2310.5
26ciliary dyskinesia, primary, 1310.5
27ciliary dyskinesia, primary, 1710.5
28ciliary dyskinesia, primary, 3010.5
29ciliary dyskinesia, primary, 2010.5
30ciliary dyskinesia, primary, 210.5
31ciliary dyskinesia, primary, 9, with or without situs inversus10.5
32primary ciliary dyskinesia 3510.5
33heart disease10.2
34hepatitis10.0
35pyelonephritis10.0CFC1, ZIC3
36primary ciliary dyskinesia10.0
37atrioventricular septal defect9.9
38arteriovenous malformation9.8
39pulmonary arteriovenous malformation9.8
40levocardia9.8
41hiatus hernia9.8
42neovascular glaucoma9.8CFC1, NODAL
43bacteremia9.8
44total anomalous pulmonary venous return9.8
45pulmonary hypertension9.8
46holoprosencephaly9.8
47atrioventricular block9.8
48pancreatitis9.8
49dextrocardia9.8
50aortic coarctation9.8

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:00053708.9ACVR2B, MMP21, NODAL, ZIC3
2MP:00053888.9ACVR2B, MMP21, NODAL, ZIC3
3MP:00053908.2ACVR2B, MMP21, NODAL, 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 Extracts3868
2Kavanutraceutical1489000-38-8

Interventional clinical trials:

idNameStatusNCT IDPhase
1Defining Immunodeficiency in Heterotaxy Syndrome: Pilot Study DataCompletedNCT01929967
2Dyskinesia, Heterotaxy and Congenital Heart DiseaseCompletedNCT00608556
3Genetic Analysis of Left-Right Axis FormationsCompletedNCT00341133
4Molecular Genetics of Heterotaxy and Related Congenital Heart DefectsRecruitingNCT02432079
5Heterotaxy Syndrome and Intestinal Rotation Abnormalities - A Prospective StudyRecruitingNCT01591928
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, Liver, Lung, Atrioventricular node, B cells, Testes

Publications for Heterotaxy

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Articles related to Heterotaxy:

(show top 50)    (show all 277)
idTitleAuthorsYear
1
An unusual case of Meckel-Gruber syndrome (MKS) associated with visceroatrial heterotaxy and facial anomalies. (26982535)
2016
2
Expanding the Limits of Posterior Aortic Translocation: Biventricular Correction of Complex Transposition With Complete Atrioventricular Septal Defect and Heterotaxy. (26777936)
2016
3
Heterotaxy in Caenorhabditis: widespread natural variation in left-right arrangement of the major organs. (27821534)
2016
4
When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome. (26991659)
2016
5
Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. (27821535)
2016
6
Twin" Biliary Trees in a Patient with Heterotaxy Syndrome. (27504813)
2016
7
The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5. (27618959)
2016
8
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. (26918822)
2016
9
Single institution experience with the Ladd's procedure in patients with heterotaxy and stage I palliated single-ventricle. (27610349)
2016
10
Predictors of poor outcome among children with heterotaxy syndrome: a retrospective review. (27843561)
2016
11
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy. (27406248)
2016
12
Outcomes of multistage palliation of infants with functional single ventricle and heterotaxy syndrome. (27085618)
2016
13
Fontan Operation in a Patient with Severe Hypoplastic Right Pulmonary Artery, Single Ventricle, and Heterotaxy Syndrome. (27713611)
2016
14
Pulmonary Hypertension in a Patient With Congenital Heart Defects and Heterotaxy Syndrome. (27660582)
2016
15
Screening and Treatment of Intestinal Rotational Abnormalities inA Heterotaxy: A Systematic Review and Meta-Analysis. (26868865)
2016
16
The concept of "palliation" in children with heterotaxy syndrome. (27085619)
2016
17
Impact of Era, Type of Isomerism, and Ventricular Morphology on Survival in Heterotaxy: Implications for Therapeutic Management. (26714995)
2016
18
Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy. (26910255)
2016
19
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways. (27637763)
2016
20
Fetal Situs, Isomerism, Heterotaxy Syndrome: Diagnostic Evaluation and Implication for Postnatal Management. (27844411)
2016
21
Heterotaxy syndrome with and without spleen: Different infection risk and management. (27864025)
2016
22
Bacteremia in Patients with Heterotaxy: A Review and Implications for Management. (27425254)
2016
23
Radiologic Considerations in Heterotaxy: The Need for Detailed Anatomic Evaluation. (26973805)
2016
24
Evaluating a management strategy for malrotation in heterotaxy patients. (26968699)
2016
25
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
26
Twin Atrioventricular Nodal Reentrant Tachycardia Associated with Heterotaxy Syndrome with Malaligned Atrioventricular Canal Defect and Atrioventricular Discordance. (26920197)
2016
27
Determining bronchial morphology for the purposes of segregating so-called heterotaxy. (26159655)
2015
28
A rare case of heterotaxy and left ventricular non-compaction in an adult. (26323941)
2015
29
Early- and Middle-Term Surgical Outcomes in Patients with Heterotaxy Syndrome. (26571485)
2015
30
Heterotaxy Syndrome: Proceedings From the 10th International PCICS Meeting. (26467876)
2015
31
Invited Commentary: Biventricular Repair in Heterotaxy Patients. (25870337)
2015
32
Decreased baseline variability on fetal heart rate pattern in a fetus with heterotaxy syndrome. (26421346)
2015
33
Heterotaxy syndrome and intestinal rotational anomalies: Impact of the Ladd procedure. (25783348)
2015
34
Chronic Arrhythmias in the Setting of Heterotaxy: Differences between Right and Left Isomerism. (26219620)
2015
35
Biventricular repair in heterotaxy patients. (25870336)
2015
36
Heterotaxy Polysplenia Syndrome In An Adult With Unique Vascular Anomalies: Case Report With Review Of Literature. (26629295)
2015
37
Extracardiac anomalies in prenatally diagnosed heterotaxy syndromes. (25847110)
2015
38
Low Immunoglobulin M Memory B Cell percentage in patients with Heterotaxy Syndrome Correlates with the Risk of Severe Bacterial Infection. (26524717)
2015
39
Heterotaxy syndrome infants are at risk for early shunt failure after Ladd procedure. (25595831)
2015
40
Comparison of situs ambiguous patterns between heterotaxy syndromes with polysplenia and asplenia. (26304785)
2015
41
Is Screening of Intestinal Foregut Anatomy in Heterotaxy Patients Really Necessary?: A Systematic Review in Search of the Evidence. (26704743)
2015
42
Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia. (25765999)
2015
43
Anaesthetic management of a rare case of single ventricle heterotaxy syndrome for emergency caesarean section. (26257419)
2015
44
Heterotaxy in Southern Nevada: Prenatal Detection and Epidemiology. (25586256)
2015
45
Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy. (26180693)
2015
46
Neonatal Repair in a Patient With Heterotaxy, Truncus Arteriosus, Pulmonary Artery Sling, and Tracheal Stenosis. (26652536)
2015
47
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. (26437028)
2015
48
An unusual occurrence: a case of venous thromboembolism in pregnancy associated with heterotaxy syndrome. (26052441)
2015
49
Racial disparities in heterotaxy syndrome. (26333177)
2015
50
Heterotaxy syndrome with esophageal atresia. (25648294)
2015

Variations for Heterotaxy

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Clinvar genetic disease variations for Heterotaxy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ACVR2BNM_001106.3(ACVR2B): c.119G> A (p.Arg40His)SNVPathogenicrs121434437GRCh37Chr 3, 38518844: 38518844

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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Pathways related to Heterotaxy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0ACVR2B, NODAL, ZIC3
2
Show member pathways
8.9ACVR2B, CFC1, NODAL
3
Show member pathways
8.5ACVR2B, CFC1, NODAL, ZIC3

GO Terms for genes affiliated with Heterotaxy

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1pattern specification processGO:000738910.1ACVR2B, ZIC3
2BMP signaling pathwayGO:003050910.0ACVR2B, NODAL
3heart loopingGO:000194710.0NODAL, ZIC3
4gastrulation with mouth forming secondGO:000170210.0ACVR2B, NODAL
5gastrulationGO:00073699.9CFC1, NODAL
6nodal signaling pathwayGO:00380929.9CFC1, NODAL
7positive regulation of activin receptor signaling pathwayGO:00329279.8ACVR2B, NODAL
8anterior/posterior pattern specificationGO:00099529.6ACVR2B, NODAL, ZIC3
9lung developmentGO:00303249.5ACVR2B, NODAL, ZIC3
10regulation of signal transductionGO:00099669.4ACVR2B, NODAL
11determination of left/right symmetryGO:00073688.3ACVR2B, CFC1, MMP21, NODAL, ZIC3

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