MCID: HTR003
MIFTS: 43

Heterotaxy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Heterotaxy

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Aliases & Descriptions for Heterotaxy:

Name: Heterotaxy 45 23
Heterotaxy Syndrome 45 22 23 24 65
Visceral Heterotaxy 45 23
Asplenia Syndrome 22 65
Ivemark Syndrome 22 23
Situs Ambiguus 45 23
Heterotaxy, Visceral, 2, Autosomal 65
Situs Ambiguus Viscerum 23
 
Lateralization Defect 45
Polysplenia Syndrome 22
Situs Ambiguous 45
Right Isomerism 23
Left Isomerism 23
Heterotaxia 45
Htx 23

Classifications:



External Ids:

UMLS65 C3178805, C0175707, C1415817

Summaries for Heterotaxy

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Genetics Home Reference:23 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 and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include heart, liver and lung.

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 223)
idRelated DiseaseScoreTop Affiliating Genes
1heterotaxy, visceral, 1, x-linked12.5
2heterotaxy, visceral, 2, autosomal12.5
3heterotaxy, visceral, 4, autosomal12.5
4heterotaxy, visceral, 6, autosomal recessive12.5
5heterotaxy, visceral, 512.4
6heterotaxy, visceral, 3, autosomal12.4
7acvr2b-related visceral heterotaxy12.3
8cfc1-related visceral heterotaxy12.3
9nodal-related visceral heterotaxy12.3
10zic3-related visceral heterotaxy12.3
11laterality defects dominant12.3
12visceral heterotaxy12.3
13double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy12.3
14lefty2-related visceral heterotaxy12.2
15cardiac anomalies-heterotaxy syndrome12.2
16atrioventricular septal defect 211.4
17right atrial isomerism11.3
18asplenia, isolated congenital10.4
19renal-hepatic-pancreatic dysplasia10.4
20tuberculous epididymitis10.3
21ureteral obstruction10.3
22leukemia10.3
23agenesis of the dorsal pancreas10.3
24myocardial infarction10.2
25breast cancer10.2
26obesity10.2
27hepatitis10.2
28cervicitis10.2
29cerebritis10.2
30thyroiditis10.2
31neuropathy10.2
32colorectal cancer10.1
33prostate cancer10.1
34chronic myelomonocytic leukemia10.1
35nephrolithiasis10.1
36spondylolisthesis10.1
37esophagitis10.1
38prostatitis10.1
39keratosis10.1
40endometriosis10.1
41laryngitis10.1
42retinitis10.1
43pancreatitis10.1
44pneumonia10.1
45subacute thyroiditis10.1
46neuronitis10.1
47vasculitis10.1
48endotheliitis10.1
49sparganosis10.0
50dementia10.0

Graphical network of the top 20 diseases related to Heterotaxy:



Diseases related to heterotaxy

Symptoms for Heterotaxy

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Drugs & Therapeutics for Heterotaxy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts3572
2Kavanutraceutical1329000-38-85281052

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 CiliopathiesRecruitingNCT00068224
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 Syndrome22 ZIC3

Anatomical Context for Heterotaxy

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MalaCards organs/tissues related to Heterotaxy:

33
Heart, Liver, Lung, Spleen, Breast, T cells, Prostate

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 247)
idTitleAuthorsYear
1
Active smoking may negatively affect response rate, progression-free survival, and overall survival of patients with metastatic renal cell carcinoma treated with sunitinib. (24309979)
2014
2
Visualization and quantification of nascent RAD51 filament formation at single-monomer resolution. (25288749)
2014
3
STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties. (24058807)
2013
4
Integrins modulate the infection efficiency of West Nile virus into cells. (23658209)
2013
5
Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients. (23879077)
2013
6
Mycotic keratitis caused by concurrent infections of Exserohilum mcginnisii and Candida parapsilosis. (23915416)
2013
7
Clinical predictors of nasal continuous positive airway pressure requirement in acute bronchiolitis. (21901857)
2012
8
Importance of V3 Loop Flexibility and Net Charge in the Context of Co-Receptor Recognition. A Molecular Dynamics Study on HIV gp120. (22657741)
2012
9
Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population. (22193623)
2012
10
Hemichorea associated with nonketotic hyperglycemia in a female. (23090265)
2012
11
Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma. (21174523)
2011
12
Viral hepatitis in renal transplantation. (21722603)
2011
13
Mitochondrial stress and the pathogenesis of diabetic neuropathy. (20729997)
2010
14
Extracellular neurosin degrades I+-synuclein in cultured cells. (20403393)
2010
15
Novel association of the interleukin 2-interleukin 21 region with inflammatory bowel disease. (19471255)
2009
16
Remaining lifetime and absolute 10-year probabilities of osteoporotic fracture in Swiss men and women. (18974918)
2009
17
Regioselective metalation of 6-methylpurines: synthesis of fluoromethyl purines and related nucleosides for suicide gene therapy of cancer. (20183607)
2009
18
Glucose metabolism inhibits apoptosis in neurons and cancer cells by redox inactivation of cytochrome c. (19029908)
2008
19
Apoptosis of murine lupus T cells induced by the selective cyclooxygenase-2 inhibitor celecoxib: molecular mechanisms and therapeutic potential. (17761345)
2007
20
The Delphi panel in the economic evaluation of photodynamic therapy for actinic keratosis and basal cell carcinoma: poor results? (17535242)
2007
21
Chronic prostatitis/chronic pelvic pain syndrome: symptoms are aggravated by cold and become less distressing with age and time. (17853027)
2007
22
A new approach to hypoplastic left heart syndrome with an intact atrial septum. (17572940)
2007
23
Placenta praevia percreta with bladder invasion: an increasing obstetric catastrophe in modern practice. (17000509)
2006
24
Nalbuphine is effective in decreasing the rewarding effect induced by morphine in rats. (16517095)
2006
25
Rapid loss of striatal VMAT2 binding associated with onset of Lewy body dementia. (16258980)
2006
26
Disulfide linkages and a three-dimensional structure model of the extracellular ligand-binding domain of guanylyl cyclase C. (16284729)
2005
27
History taking and leukocyturia predict the presence of asymptomatic bacteriuria in women with diabetes mellitus. (15648595)
2004
28
S-1-induced, prolonged complete regression of lung metastasis from gastric cancer refractory to 5'-DFUR: a case report with pharmacokinetic study. (15231865)
2004
29
Overexpression of the tissue inhibitor of metalloproteinase-3 during Xenopus embryogenesis affects head and axial tissue formation. (15538971)
2004
30
Pathogenesis of Ebola hemorrhagic fever in cynomolgus macaques: evidence that dendritic cells are early and sustained targets of infection. (14633608)
2003
31
Actions of GnRH antagonists on IGF-II, IGF-binding protein-2 and pregnancy-associated plasma protein-A in human granulosa-lutein cells. (12824863)
2003
32
Cerebrospinal fluid nitrite and malondialdehyde levels in patients with motor neuron disease. (12888419)
2003
33
Establishment of a hepatocellular carcinoma cell line with unique metastatic characteristics through in vivo selection and screening for metastasis-related genes through cDNA microarray. (12618900)
2003
34
Molecular basis for selectivity of high affinity peptide antagonists for the gastrin-releasing peptide receptor. (11463790)
2001
35
Identification of up-regulated Ras-like GTPase, Rap1b, by suppression subtractive hybridization. (11737587)
2001
36
Cowpox virus and other members of the orthopoxvirus genus interfere with the regulation of NF-kappaB activation. (11543670)
2001
37
Massive pontine hemorrhagic infarction associated with embolic basilar artery occlusion. (11506312)
2001
38
Sustained response to interferon-alpha2a monotherapy of young blood donors with minimal-to-mild chronic hepatitis C. The Donor Surveillance Study Group. (10971823)
2000
39
Trabecular angiomyolipoma mimicking hepatic cell carcinoma. (11033464)
2000
40
Fluostatins A and B, new inhibitors of dipeptidyl peptidase III, produced by Streptomyces sp. TA-3391. II. Structure determination. (9711223)
1998
41
Self-reported exposure to neurotoxic chemical combinations in the Gulf War. A cross-sectional epidemiologic study. (9005273)
1997
42
Enrollment parathyroid hormone level is a new marker of survival in hemodialysis and peritoneal dialysis therapy for uremia. (8957048)
1996
43
'Silent' cerebral infarction is associated with hypercoagulability, endothelial cell damage, and high Lp(a) levels in elderly Japanese. (8640400)
1996
44
Prostate specific antigen after gonadal androgen withdrawal and deferred flutamide treatment. (7541862)
1995
45
Nodular regenerative hyperplasia of the liver: ultrasonographic appearance and echo-guided bioptic diagnosis. (7812029)
1994
46
Biologic effects of recombinant hirudin (CGP 39393) in human volunteers. European Hirudin in Thrombosis Group. (8409044)
1993
47
In vitro activation of human T lymphocytes by Haemophilus influenzae type b capsular polysaccharides. (1346727)
1992
48
Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. (1985698)
1991
49
RNA editing of ATPase subunit 9 transcripts in Oenothera mitochondria. (1696551)
1990
50
Perilymphatic fistula in pediatric patients with a preexisting sensorineural loss. (2610244)
1989

Variations for Heterotaxy

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Clinvar genetic disease variations for Heterotaxy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_001492.5(GDF1): c.681C> A (p.Cys227Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121434422GRCh37Chr 19, 18979844: 18979844

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
1
Show member pathways
9.3
28.9ACVR2B, NODAL, ZIC3
3
Show member pathways
8.9ACVR2B, CFC1, NODAL
4
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 9)
idNameGO IDScoreTop Affiliating Genes
1anterior/posterior pattern specificationGO:00099529.8NODAL, ZIC3
2gastrulation with mouth forming secondGO:00017029.8ACVR2B, NODAL
3positive regulation of activin receptor signaling pathwayGO:00329279.6ACVR2B, NODAL
4pattern specification processGO:00073899.6ACVR2B, ZIC3
5regulation of signal transductionGO:00099669.5ACVR2B, NODAL
6BMP signaling pathwayGO:00305099.5ACVR2B, NODAL
7heart developmentGO:00075079.3ACVR2B, NODAL
8lung developmentGO:00303249.3ACVR2B, NODAL
9determination of left/right symmetryGO:00073689.1ACVR2B, NODAL, ZIC3

Sources for Heterotaxy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet