MCID: VSC013
MIFTS: 42

Visceral Heterotaxy malady

Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories
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Summaries for Visceral Heterotaxy

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Disease Ontology:8 A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.

MalaCards based summary: Visceral Heterotaxy, also known as situs ambiguus, is related to congenital heart disease and holoprosencephaly. An important gene associated with Visceral Heterotaxy is NODAL (nodal growth differentiation factor), and among its related pathways are TGF-beta Signaling Pathway and TGF-beta Signaling Pathway. Affiliated tissues include heart and spleen, and related mouse phenotypes are craniofacial and digestive/alimentary.

Descriptions from OMIM:46 306955,614779,606325,613751,605376

Aliases & Classifications for Visceral Heterotaxy

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Sources:
8Disease Ontology, 48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Visceral Heterotaxy, Aliases & Descriptions:

Name: Visceral Heterotaxy 8
Situs Ambiguus 8 48
Heterotaxy, Visceral, 1, X-Linked 62
Incomplete Situs Inversus 48
 
Partial Situs Inversus 48
Situs Ambiguous 48
Heterotaxia 8


Classifications:



External Ids:

Disease Ontology8 DOID:0050545
ICD10 via Orphanet26 Q89.3
UMLS via Orphanet63 C0266642, C1167664

Related Diseases for Visceral Heterotaxy

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Diseases in the Visceral Heterotaxy family:

Zic3-Related Visceral Heterotaxy Cfc1-Related Visceral Heterotaxy
Nodal-Related Visceral Heterotaxy Acvr2b-Related Visceral Heterotaxy
Lefty2-Related Visceral Heterotaxy Heterotaxy, Visceral, 5

Diseases related to Visceral Heterotaxy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease30.7ZIC3
2holoprosencephaly30.2NODAL, ZIC5
3situs inversus29.8ZIC3, CCDC11, LEFTY2
4heterotaxy10.9
5x-linked visceral heterotaxy 110.5
6duodenitis10.4
7duodenal obstruction10.4
8annular pancreas10.3
9zic3-related visceral heterotaxy10.3
10cfc1-related visceral heterotaxy10.3
11nodal-related visceral heterotaxy10.3
12acvr2b-related visceral heterotaxy10.3
13lefty2-related visceral heterotaxy10.3
14levocardia10.3
15peritonitis10.2
16intestinal volvulus10.2
17pancreatitis10.2
18dilated cardiomyopathy10.2
19double outlet right ventricle10.2
20vascular disease10.2
21ventricular septal defect10.2
22isolated levocardia10.2
23aneurysm10.2
24heterotaxy, visceral, 2, autosomal10.2
25heterotaxy, visceral, 4, autosomal10.2
26bacteremia10.2
27heterotaxy, visceral, 510.2
28univentricular heart10.2
29splenic infarction10.1
30dextrocardia10.1
31congenital pseudoarthrosis of clavicle10.1
32craniorachischisis9.9
33hepatitis9.9
34primary ciliary dyskinesia9.9
35johanson-blizzard syndrome9.9
36smith-lemli-opitz syndrome9.9
37polydactyly9.9
38poland syndrome9.9
39hallermann-streiff syndrome9.9
40ellis-van creveld syndrome9.9
41wolf-hirschhorn syndrome9.9
42renpenning syndrome9.9
43esophageal atresia9.9
44esophagitis9.9
45autosomal dominant alport syndrome9.9
46chylous ascites9.9
47colonic atresia9.9
48joubert syndrome with ocular anomalies9.9
49long qt syndrome 19.9
50marden-walker syndrome9.9

Graphical network of the top 20 diseases related to Visceral Heterotaxy:



Diseases related to visceral heterotaxy

Symptoms for Visceral Heterotaxy

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Clinical features from OMIM:

306955,614779,606325,613751,605376

Drugs & Therapeutics for Visceral Heterotaxy

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Drug clinical trials:

Search ClinicalTrials for Visceral Heterotaxy

Search NIH Clinical Center for Visceral Heterotaxy

Genetic Tests for Visceral Heterotaxy

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Anatomical Context for Visceral Heterotaxy

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MalaCards organs/tissues related to Visceral Heterotaxy:

32
Heart, Spleen

Animal Models for Visceral Heterotaxy or affiliated genes

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Publications for Visceral Heterotaxy

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Articles related to Visceral Heterotaxy:

(show all 26)
idTitleAuthorsYear
1
Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy. (22843201)
2013
2
Visceral heterotaxy in the developing world. (22726404)
2012
3
Visceral heterotaxy and malrotation in a neonate. (22411653)
2012
4
Experience with bidirectional cavopulmonary anastomosis and modified Fontan operation in patients with single ventricle and concomitant visceral heterotaxy. (21233261)
2011
5
Raoultella ornithinolytica bacteremia in an infant with visceral heterotaxy. (20072080)
2010
6
Membranous septal aneurysm: an unusual cause for right ventricular outflow tract obstruction in a malaligned ventricular septal defect with aortomitral discontinuity (double-outlet right ventricle) associated with visceral heterotaxy. (18704548)
2009
7
Surgery for the functionally univentricular heart in patients with visceral heterotaxy. (16401367)
2006
8
Visceral heterotaxy, isomerism, and splenic structure. (16164784)
2005
9
Splenic state in surviving patients with visceral heterotaxy. (16164783)
2005
10
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
11
Isomeric arrangement of the left atrial appendages and visceral heterotaxy. (11117404)
2000
12
Atrial structure in the presence of visceral heterotaxy. (10950326)
2000
13
Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome. (11045684)
2000
14
Isomeric arrangement of the left atrial appendages and visceral heterotaxy: two atypical cases. (10817298)
2000
15
The Fontan type procedure in patients with visceral heterotaxy. (9855091)
1998
16
Aortic outflow obstruction in visceral heterotaxy: a study based on twenty postmortem cases. (9141378)
1997
17
Venoarterial connections in visceral heterotaxy. (8622310)
1996
18
Visceral heterotaxy syndrome induced by retinoids in mouse embryo. (8593204)
1995
19
Systemic and pulmonary venous connections in visceral heterotaxy with asplenia. Diagnostic and surgical considerations based on seventy-two autopsied cases. (7564430)
1995
20
Atrial appendages and venoatrial connections in hearts from patients with visceral heterotaxy. (7677481)
1995
21
Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both. (7572671)
1995
22
Total anomalous pulmonary venous drainage in newborns with visceral heterotaxy. (8279925)
1994
23
Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy. (1959204)
1991
24
99mTechnetium pyridoxylidene glutamate imaging in visceral heterotaxy (Ivemark's syndrome). (488637)
1979
25
Levocardia with visceral heterotaxy--isolated levocardia: pathologic anatomy and its clinical implications. (4682005)
1973
26
VISCERAL HETEROTAXY WITH MALFORMED HEART. SIMILAR FINDINGS IN A CHILD AND A PUPPY. (14173800)
1964

Variations for Visceral Heterotaxy

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Expression for genes affiliated with Visceral Heterotaxy

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Expression patterns in normal tissues for genes affiliated with Visceral Heterotaxy

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Pathways for genes affiliated with Visceral Heterotaxy

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Compounds for genes affiliated with Visceral Heterotaxy

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GO Terms for genes affiliated with Visceral Heterotaxy

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Biological processes related to Visceral Heterotaxy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of activin receptor signaling pathwayGO:0329279.7NODAL, ACVR2B
2heart loopingGO:0019479.7ZIC3, NODAL
3anterior/posterior pattern specificationGO:0099529.6ZIC3, ACVR2B
4lung developmentGO:0303249.3ZIC3, ACVR2B
5determination of left/right symmetryGO:0073689.3ZIC3, ACVR2B, CFC1

Molecular functions related to Visceral Heterotaxy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051259.6NODAL, LEFTY2
2growth factor activityGO:0080839.3NODAL, LEFTY2
3metal ion bindingGO:0468728.2ZIC3, ZIC5, ZIC4, ACVR2B

Products for genes affiliated with Visceral Heterotaxy

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Sources for Visceral Heterotaxy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet