MCID: HTR003
MIFTS: 48

Heterotaxy malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Fetal diseases categories

Summaries for Heterotaxy

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MalaCards based summary: Heterotaxy, also known as heterotaxy syndrome, is related to heterotaxy, visceral, 2, autosomal and congenital heart disease, and has symptoms including everted lower lip vermilion, malar flattening and mandibular prognathia. An important gene associated with Heterotaxy is ZIC3 (Zic family member 3), and among its related pathways are Potassium transporters inward current and Signaling by NODAL. Affiliated tissues include heart, eye and spleen, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Aliases & Classifications for Heterotaxy

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Sources:
41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Heterotaxy, Aliases & Descriptions:

Name: Heterotaxy 41
Heterotaxy Syndrome 41 20 22 60
Hypospadias - Hypertelorism - Coloboma and Deafness 41 47
Lateralization Defect 41
 
Visceral Heterotaxy 41
Situs Ambiguous 41
Situs Ambiguus 41
Heterotaxia 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
hypospadias - hypertelorism - coloboma and deafness:
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet47 157788
ICD10 via Orphanet26 Q87.0

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 102)
idRelated DiseaseScoreTop Affiliating Genes
1heterotaxy, visceral, 2, autosomal31.1CFC1, HTX2
2congenital heart disease31.0GJA1, ZIC3
3atrioventricular septal defect30.8CRELD1
4situs inversus30.6CCDC11, DNAH5, ZIC3
5holoprosencephaly30.5NODAL, ZIC5
6visceral heterotaxy10.7
7heterotaxy, visceral, 1, x-linked10.6
8heterotaxy, visceral, 4, autosomal10.4
9transposition of the great arteries, dextro-looped 210.4CFC1, HTX2
10conotruncal heart malformations10.4CFC1, HTX2
11heterotaxy, visceral, 3, autosomal10.4
12heterotaxy, visceral, 510.4
13hepatitis10.4
14heterotaxy, visceral, 6, autosomal recessive10.3
15intestinal volvulus10.2
16primary ciliary dyskinesia10.2
17arteriovenous malformation10.2
18pulmonary arteriovenous malformation10.2
19zic3-related visceral heterotaxy10.2
20cfc1-related visceral heterotaxy10.2
21nodal-related visceral heterotaxy10.2
22acvr2b-related visceral heterotaxy10.2
23lefty2-related visceral heterotaxy10.2
24cardiac anomalies - heterotaxy10.2
25levocardia10.2
26sudden cardiac death multi-gene panels10.2KCNE1, GJA1
27laterality defects dominant10.1
28atrial fibrillation10.1KCNE1, GJA1
29splenic infarction10.1
30congenital pseudoarthrosis of clavicle10.1
31atrioventricular septal defect 210.1
32total anomalous pulmonary venous return10.1
33atrioventricular block10.1
34pancreatitis10.1
35aortic coarctation10.1
36congenital extrahepatic portosystemic shunt10.1
37isolated levocardia10.1
38restrictive dermopathy, lethal9.9
39visceral myopathy9.9
40ellis-van creveld syndrome9.9
41joubert syndrome 19.9
42meacham syndrome9.9
43smith-lemli-opitz syndrome9.9
44johanson-blizzard syndrome9.9
45marden-walker syndrome9.9
46renpenning syndrome9.9
47alport syndrome9.9
48escobar syndrome9.9
49meckel syndrome 19.9
50craniorachischisis9.9

Graphical network of the top 20 diseases related to Heterotaxy:



Diseases related to heterotaxy

Symptoms for Heterotaxy

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Symptoms:

 47 (show all 16)
  • frontal bossing/prominent forehead
  • hypertelorism
  • mid-facial hypoplasia/short/small midface
  • prognathism/prognathia
  • dental malocclusion
  • coloboma of the eyelid
  • bifid tip/cleft nose/supernumerary nose
  • everted lower lip
  • hearing loss/hypoacusia/deafness
  • pectus carinatum
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • hypospadias/epispadias/bent penis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance

HPO human phenotypes related to Heterotaxy:

(show all 15)
id Description Frequency HPO Source Accession
1 everted lower lip vermilion hallmark (90%) HP:0000232
2 malar flattening hallmark (90%) HP:0000272
3 mandibular prognathia hallmark (90%) HP:0000303
4 hypertelorism hallmark (90%) HP:0000316
5 hearing impairment hallmark (90%) HP:0000365
6 cleft eyelid hallmark (90%) HP:0000625
7 dental malocclusion hallmark (90%) HP:0000689
8 pectus carinatum hallmark (90%) HP:0000768
9 abnormality of the mitral valve hallmark (90%) HP:0001633
10 abnormality of the tricuspid valve hallmark (90%) HP:0001702
11 frontal bossing hallmark (90%) HP:0002007
12 midline defect of the nose hallmark (90%) HP:0004122
13 short stature hallmark (90%) HP:0004322
14 cognitive impairment hallmark (90%) HP:0100543
15 displacement of the external urethral meatus hallmark (90%) HP:0100627

Drugs & Therapeutics for Heterotaxy

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Drug clinical trials:

Search ClinicalTrials for Heterotaxy

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 Syndrome20 22 ZIC3
2 Heterotaxy Multi-Gene Panels20

Anatomical Context for Heterotaxy

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MalaCards organs/tissues related to Heterotaxy:

31
Heart, Eye, Spleen, Pancreas, Atrioventricular node

Animal Models for Heterotaxy or affiliated genes

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Publications for Heterotaxy

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Articles related to Heterotaxy:

(show top 50)    (show all 225)
idTitleAuthorsYear
1
Management and outcomes of heterotaxy syndrome associated with pulmonary atresia or pulmonary stenosis. (24793683)
2014
2
Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia). (24996551)
2014
3
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. (25367485)
2014
4
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. (24577564)
2014
5
Novel copy-number variants in a population-based investigation of classic heterotaxy. (25232849)
2014
6
A case of unusual visceral heterotaxy syndrome with isolated levocardia. (24255657)
2013
7
Abnormal atrial rhythm in a heterotaxy syndrome. (23791595)
2013
8
Interstage mortality for functional single ventricle with heterotaxy syndrome: a retrospective study of the clinical experience of a single tertiary center. (23591028)
2013
9
Magnetic resonance angiography in paced complex heterotaxy syndrome with Fontan conduit obstruction and venovenous collateral decompression. (22188762)
2013
10
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. (22843201)
2013
11
An unusual form of supracardiac total anomalous pulmonary venous return via a right-sided vertical vein in a heterotaxy syndrome case. (22354227)
2012
12
Heterotaxy and isomerism. (22874430)
2012
13
Malrotation and volvulus associated with heterotaxy syndrome. (22869985)
2012
14
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3a88Mb deletion encompassing GLI2. (22106008)
2012
15
Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. (21864452)
2012
16
Respiratory complications in patients with heterotaxy syndrome. (22340035)
2012
17
Superior approach for radiofrequency ablation of common atrial flutter in patient with heterotaxy syndrome. (22078973)
2012
18
Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease. (21858219)
2011
19
Heterotaxy: lessons learned about patterns of practice and outcomes from the congenital heart surgery database of the society of thoracic surgeons. (23804985)
2011
20
Heterotaxy and isomerism of the atrial appendages. (21334916)
2011
21
Challenges of univentricular physiology in heterotaxy. (23804982)
2011
22
Heterotaxy syndrome: implications for anesthesia management. (20421166)
2010
23
A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. (20581739)
2010
24
Polysplenia/heterotaxy syndrome associated with aortic coarctation and multiple venous anomalies: multidetector computed tomography findings. (20484074)
2010
25
Intracardiac Fontan procedure for heterotaxy syndrome with complex systemic and pulmonary venous anomalies. (19695897)
2010
26
Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. (19218456)
2009
27
Combination of aortopulmonary window and complete atrioventricular septal defect in a patient with heterotaxy syndrome. (19324181)
2009
28
Disorders of left-right asymmetry: heterotaxy and situs inversus. (19876930)
2009
29
Importance of totally anomalous pulmonary venous connection and postoperative pulmonary vein stenosis in outcomes of heterotaxy syndrome. (18004616)
2008
30
Images in cardiovascular medicine. Extracardiac venous heterotaxy syndrome: complete noninvasive diagnosis by multimodality imaging. (18574050)
2008
31
Improving results of the Fontan procedure in patients with heterotaxy syndrome. (16996916)
2006
32
Surgery for the functionally univentricular heart in patients with visceral heterotaxy. (16401367)
2006
33
Analysis of surgical outcome in complex double-outlet right ventricle with heterotaxy syndrome or complete atrioventricular canal defect. (16798205)
2006
34
Fetal echocardiographic evaluation of atrial morphology and the prediction of laterality in cases of heterotaxy syndromes. (16184509)
2005
35
Heterotaxy syndrome -- asplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease. (16113522)
2005
36
Usefulness of cardiac transplantation in children with visceral heterotaxy (asplenic and polysplenic syndromes and single right-sided spleen with levocardia) and comparison of results with cardiac transplantation in children with dilated cardiomyopathy. (12031727)
2002
37
Sequence of right laterality with spleen: widening the spectrum of heterotaxy. (12396901)
2002
38
Heterotaxy syndrome with severe pulmonary hypertension in an adult. (12005012)
2002
39
Intrauterine diagnosis of heterotaxy syndrome. (12075255)
2002
40
Improving outcomes of the Fontan operation in children with atrial isomerism and heterotaxy syndromes. (11722057)
2001
41
Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses. (10340655)
1999
42
Extracardiac conduit Fontan for children with heterotaxy and functionally single ventricle. (9855102)
1998
43
Diagnosis of heterotaxy syndrome by fetal echocardiography. (9817503)
1998
44
Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. (8873667)
1996
45
Diagnosis of heterotaxy syndrome. (7828322)
1995
46
Technetium-99m-sulfur colloid SPECT imaging in infants with suspected heterotaxy syndrome. (7629579)
1995
47
Atrial isomerism in the heterotaxy syndromes with asplenia, or polysplenia, or normally formed spleen: an erroneous concept. (2252000)
1990
48
Splenic scintigraphy and radionuclide venography in the heterotaxy syndrome. (4695908)
1973
49
ISOLATED HETEROTAXY OF THE STOMACH. (14139900)
1964
50
Congenital heart disease associated with subdiaphragmatic lateral heterotaxy. (15411467)
1950

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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Compounds 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
1apical plasma membraneGO:00163249.5ADAM17, SHROOM3, KCNE1
2lysosomeGO:00057648.8GJA1, UVRAG, KCNE1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of activin receptor signaling pathwayGO:003292710.1ACVR2B, NODAL
2heart loopingGO:00019479.8NOTCH1, NODAL, ZIC3
3lung developmentGO:00303249.7NOTCH1, ZIC3, ACVR2B
4cilium morphogenesisGO:00602719.6NOTCH1, GALNT11
5Notch signaling involved in heart developmentGO:00613149.5GALNT11, NOTCH1
6Notch receptor processingGO:00072209.4ADAM17, GALNT11, NOTCH1
7heart developmentGO:00075079.3NOTCH1, GJA1, ACVR2B
8determination of left/right symmetryGO:00073689.1NOTCH1, GALNT11, ZIC3, ACVR2B, CFC1

Molecular functions related to Heterotaxy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:00051129.6GALNT11, ADAM17
2SH3 domain bindingGO:00171248.7GJA1, UVRAG, ADAM17

Products for genes affiliated with Heterotaxy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Heterotaxy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet