MCID: VSC013
MIFTS: 29

Visceral Heterotaxy malady

Categories: Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Visceral Heterotaxy

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Sources:
10Disease Ontology, 12DISEASES, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Visceral Heterotaxy:

Name: Visceral Heterotaxy 10 12
Situs Ambiguus 10 51
Incomplete Situs Inversus 51
 
Partial Situs Inversus 51
Situs Ambiguous 51
Heterotaxia 10

Classifications:



External Ids:

Disease Ontology10 DOID:0050545
Orphanet51 157769
ICD10 via Orphanet28 Q89.3
UMLS via Orphanet66 C0266642, C1167664

Summaries for Visceral Heterotaxy

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Disease Ontology:10 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 acvr2b-related visceral heterotaxy and cfc1-related visceral heterotaxy. An important gene associated with Visceral Heterotaxy is CFAP53 (Cilia And Flagella Associated Protein 53), and among its related pathways are and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include heart, t cells and bone, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

Related Diseases for Visceral Heterotaxy

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Diseases in the Visceral Heterotaxy family:

Heterotaxy, Visceral, 2, Autosomal Heterotaxy, Visceral, 4, Autosomal
Heterotaxy, Visceral, 3, Autosomal Heterotaxy, Visceral, 5
Heterotaxy, Visceral, 6, Autosomal Recessive Acvr2b-Related Visceral Heterotaxy
Cfc1-Related Visceral Heterotaxy Lefty2-Related Visceral Heterotaxy
Nodal-Related Visceral Heterotaxy Zic3-Related Visceral Heterotaxy

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1acvr2b-related visceral heterotaxy12.5
2cfc1-related visceral heterotaxy12.5
3nodal-related visceral heterotaxy12.5
4zic3-related visceral heterotaxy12.5
5lefty2-related visceral heterotaxy12.5
6heterotaxy, visceral, 1, x-linked11.9
7heterotaxy, visceral, 2, autosomal11.9
8heterotaxy, visceral, 4, autosomal11.9
9heterotaxy11.7
10heterotaxy, visceral, 510.7
11heterotaxy, visceral, 6, autosomal recessive10.6
12heterotaxy, visceral, 3, autosomal10.5
13persistent fifth aortic arch10.5ACVR2B, CFAP53
14dextrocardia with unusual facies and microphthalmia10.4CFAP53, MMP21, NODAL
15rhabdomyosarcoma of the corpus uteri10.4CFC1, GDF1
16cataract 29, coralliform10.4ACVR2B, LEFTY2
17cogan-reese syndrome10.3INVS, NPHP3
18hhv-6 encephalitis10.3ACVR2B, CFAP53, CFC1, NODAL, ZIC3
19choanal atresia10.3ACVR2B, DNAH11, DNAI1, NODAL
20nephronophthisis 1, juvenile10.3INVS, NPHP3
21keratosis10.3
22ptosis10.2GDF1, INVS, NODAL, NPHP3
23transverse limb deficiency hemangioma10.2CFAP53, CFC1, GDF1, PITX2, ZIC3
24surfactant metabolism dysfunction, pulmonary, 210.2CFC1, GDF1, PITX2
25thymoma10.2
26panic disorder 210.1INVS, NPHP3
27colorectal cancer10.1
28asthma10.1
29obesity10.1
30achondroplasia10.1
31alcohol dependence10.1
32burns10.1
33chronic myelomonocytic leukemia10.1
34leukemia10.1
35aceruloplasminemia10.1
36oromandibular dystonia10.1
37choroiditis10.1
38chorioangioma10.1
39cerebritis10.1
40burning mouth syndrome10.1
41dystonia10.1
42thyroiditis10.1
43herpes simplex10.1
44cholesteatoma10.1
45actinic keratosis10.1
46hyperhomocysteinemia10.1
47renal cell carcinoma10.1
48common variable immunodeficiency10.1
49insulinoma10.1
50colitis10.1

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



Diseases related to visceral heterotaxy

Symptoms for Visceral Heterotaxy

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Drugs & Therapeutics for Visceral Heterotaxy

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Drugs for Visceral 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 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:

33
Heart, T cells, Bone, Whole blood, Thyroid, Testes, Pituitary

Animal Models for Visceral Heterotaxy or affiliated genes

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MGI Mouse Phenotypes related to Visceral Heterotaxy:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.7ACVR2B, CCDC40, DNAH11, DNAH5, GDF1, INVS
2MP:00053819.4DNAH11, DNAH5, GDF1, INVS, LEFTY2, MMP21
3MP:00053709.4ACVR2B, DNAH11, DNAH5, GDF1, INVS, LEFTY2
4MP:00053809.2ACVR2B, CCDC40, DNAH11, GDF1, INVS, LEFTY2
5MP:00036319.2CCDC40, DNAH5, DNAI1, GDF1, LEFTY2, NODAL
6MP:00053849.1ACVR2B, CCDC40, DNAH11, DNAH5, DNAI1, GDF1
7MP:00053829.0DNAH11, DNAH5, DNAI1, GDF1, MMP21, NODAL
8MP:00053889.0ACVR2B, CCDC40, DNAH11, DNAH5, DNAI1, GDF1
9MP:00053908.7ACVR2B, DNAH11, DNAH5, DNAI1, GDF1, MMP21
10MP:00053878.7ACVR2B, DNAH11, DNAH5, DNAI1, GDF1, INVS
11MP:00053858.7ACVR2B, DNAH11, DNAH5, DNAI1, GDF1, INVS
12MP:00107688.5ACVR2B, CCDC40, DNAH5, DNAI1, GDF1, INVS
13MP:00053978.5ACVR2B, DNAH11, DNAH5, DNAI1, GDF1, INVS
14MP:00053788.4ACVR2B, CCDC40, DNAH11, DNAH5, DNAI1, GDF1

Publications for Visceral Heterotaxy

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Articles related to Visceral Heterotaxy:

(show all 28)
idTitleAuthorsYear
1
Antibodies against immature virions are not a discriminating factor for dengue disease severity. (25760350)
2015
2
Caveolin-1 mediates gene transfer and cytotoxicity of polyethyleneimine in mammalian cell lines. (25626893)
2015
3
The diurnal patterns of salivary interleukin-6 and C-reactive protein in healthy young adults. (22796263)
2013
4
Images in clinical medicine. Bilateral internuclear ophthalmoplegia in multiple sclerosis. (23323922)
2013
5
In-vivo biomechanical analysis of osteochondritis dissecans of the humeral trochlea: a case report. (23426027)
2013
6
Recurrent Varicella following Steroids and Fingolimod in a Multiple Sclerosis Patient. (24163092)
2013
7
Importance of V3 Loop Flexibility and Net Charge in the Context of Co-Receptor Recognition. A Molecular Dynamics Study on HIV gp120. (22657741)
2012
8
Chairside quantitative immunochromatographic evaluation of salivary cotinine and its correlation with chronic periodontitis. (23492903)
2012
9
Phospholamban generates cation selective ion channels. (21687864)
2011
10
Observational comparative trial of the efficacy of proton pump inhibitors versus histamine-2 receptor antagonists for uninvestigated dyspepsia. (20586853)
2010
11
Pituitary homeobox 2 (PITX2) promotes thyroid carcinogenesis by activation of cyclin D2. (20372070)
2010
12
Resistin modulates glucose uptake and glucose transporter-1 (GLUT-1) expression in trophoblast cells. (18410529)
2009
13
Apoptosis of murine lupus T cells induced by the selective cyclooxygenase-2 inhibitor celecoxib: molecular mechanisms and therapeutic potential. (17761345)
2007
14
Adsorption of drugs onto a pH responsive poly(N,N-dimethyl aminoethyl methacrylate) grafted anion-exchange membrane in vitro. (17289313)
2007
15
Distinct roles of IkappaB proteins in regulating constitutive NF-kappaB activity. (16136188)
2005
16
Hypoxia-inducible factor-1 activation by (-)-epicatechin gallate: potential adverse effects of cancer chemoprevention with high-dose green tea extracts. (15620252)
2004
17
Femoral chondrosarcoma complicating Paget's disease of bone. (14763533)
2004
18
Enhanced interleukin-4 production in CD4+ T cells and elevated immunoglobulin E levels in antigen-primed mice by bisphenol A and nonylphenol, endocrine disruptors: involvement of nuclear factor-AT and Ca2+. (12709020)
2003
19
Infrasellar craniopharyngioma mimicking a clival chordoma: a case report. (12134188)
2002
20
Time-resolved fluorescence resonance energy transfer studies of DNA bending in double-stranded oligonucleotides and in DNA-protein complexes. (11987180)
2001-2002
21
Molecular basis for selectivity of high affinity peptide antagonists for the gastrin-releasing peptide receptor. (11463790)
2001
22
Development of a simple whole blood panel test for detection of human heart-type fatty acid-binding protein. (11440724)
2001
23
Calcium-binding mechanism of human nonerythroid alpha-spectrin EF-structures. (9188721)
1997
24
A case control study of chorioamniotic infection and histological chorioamnionitis in stillbirth. (9164478)
1997
25
Human breast cancer cells contain a phosphoramidon-sensitive metalloproteinase which can process exogenous big endothelin-1 to endothelin-1: a proposed mitogen for human breast fibroblasts. (7880721)
1995
26
Long-term outcome related to epidermal growth factor receptor status in bladder cancer. (7853575)
1995
27
Perilymphatic fistula in pediatric patients with a preexisting sensorineural loss. (2610244)
1989
28
Renin-angiotensin-aldosterone system: a long-term follow-up study in 17 alpha-hydroxylase deficiency syndrome (17OHDS). (3530552)
1986

Variations for Visceral Heterotaxy

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Expression for genes affiliated with Visceral Heterotaxy

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Search GEO for disease gene expression data for Visceral Heterotaxy.

Pathways 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 Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1gastrulation with mouth forming secondGO:000170210.7ACVR2B, NODAL
2positive regulation of activin receptor signaling pathwayGO:003292710.6ACVR2B, NODAL
3regulation of signal transductionGO:000996610.5ACVR2B, NODAL
4determination of digestive tract left/right asymmetryGO:007190710.5CCDC40, DNAAF1, ZIC3
5digestive system developmentGO:005512310.5NODAL, PITX2
6epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.4CCDC40, DNAAF1, NPHP3
7determination of pancreatic left/right asymmetryGO:003546910.4CCDC40, DNAAF1, NPHP3
8motile cilium assemblyGO:004445810.4CCDC40, DNAAF1, RSPH9
9sperm motilityGO:003031710.3CCDC40, DNAI1
10positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.3GDF1, NODAL
11BMP signaling pathwayGO:003050910.3ACVR2B, GDF1, NODAL
12heart loopingGO:000194710.2CCDC40, DNAAF1, NODAL, NPHP3
13growthGO:004000710.1GDF1, LEFTY2, NODAL
14heart developmentGO:000750710.1ACVR2B, DNAI1, NODAL, PITX2
15determination of left/right symmetryGO:00073689.9ACVR2B, DNAH11, NODAL, NPHP3, PITX2, ZIC3
16lung developmentGO:00303249.9ACVR2B, DNAAF1, NODAL, PITX2
17cilium assemblyGO:00423849.9DNAH5, DNAI2

Sources for Visceral 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