MCID: HTR003
MIFTS: 40

Heterotaxy malady

Cardiovascular diseases, Fetal diseases, Endocrine diseases categories

Summaries for Heterotaxy

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63Wikipedia, 32MalaCards
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Wikipedia:63 Situs ambiguus or situs ambiguous (the former spelling is more correct etymologically, but the latter... more...

MalaCards: Heterotaxy, also known as heterotaxy syndrome, is related to heterotaxy, visceral, 2, autosomal and situs inversus. An important gene associated with Heterotaxy is NODAL (nodal growth differentiation factor), and among its related pathways are Axon guidance and PKA activation in glucagon signalling. Affiliated tissues include thyroid, and related mouse phenotypes are liver/biliary system and respiratory system.

Aliases & Classifications for Heterotaxy

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42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Cardiovascular diseases, Endocrine diseases


Aliases & Descriptions:

heterotaxy 42
heterotaxy syndrome 42 20 22 60
situs ambiguous 42 48
situs ambiguus 42 48
thyroid hormone plasma membrane transport defect 60
incomplete situs inversus 48
partial situs inversus 48
lateralization defect 42
heterotaxia 42


External Ids:

ICD10 via Orphanet26 Q89.3
SNOMED-CT via Orphanet57 14821001
UMLS via Orphanet61 C0266642, C1167664

Related Diseases for Heterotaxy

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17GeneCards, 18GeneDecks
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Diseases related to Heterotaxy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 144)
idRelated DiseaseScoreTop Affiliating Genes
1heterotaxy, visceral, 2, autosomal30.3CFC1, HTX2
2situs inversus30.2LEFTY2, ZIC3, CCDC11, DNAH5
3double outlet right ventricle30.2CFC1, HTX2
4atrioventricular septal defect30.1GJA1, NKX2-5, CRELD1
5congenital heart defect30.1ZIC3, NKX2-5
6holoprosencephaly30.0NODAL, ZIC5
7dextrocardia29.8ACVR2B
8ventricular septal defect29.8NKX2-5, CFC1
9visceral heterotaxy10.6
10thyroid hormone plasma membrane transport defect10.6
11x-linked visceral heterotaxy 110.5
12duodenitis10.4
13duodenal obstruction10.4
14patent foramen ovale10.4
15glanzmann's thrombasthenia10.4
16takayasu's arteritis10.4
17congenital diaphragmatic hernia10.4
18atrial heart septal defect10.4
19urea cycle disorder10.4
20hereditary folate malabsorption10.4
21zap70-related severe combined immunodeficiency10.4
22acro-pectoro-renal field defect10.4
23ankle defects short stature10.4
24axial mesodermal dysplasia spectrum10.4
25branchial arch defects10.4
26cardioskeletal syndrome kuwaiti type10.4
27sacral defect with anterior meningocele10.4
28caudal regression syndrome10.4
29chylomicron retention disease10.4
30x-linked creatine deficiency10.4
31cystinosis, ocular nonnephropathic10.4
32hmg coa lyase deficiency10.4
33imerslund-grasbeck syndrome10.4
34defective apolipoprotein b-10010.4
35diaphragmatic hernia upper limb defects10.4
36peroxisome disorders10.4
37heart defect, tongue hamartoma and polysyndactyly10.4
38hermansky pudlak syndrome 210.4
39red cell phospholipid defect with hemolysis10.4
40hyperthermia induced defects10.4
41lateral body wall defect10.4
42limb reduction defect10.4
43overgrowth radial ray defect arthrogryposis10.4
44paraomphalocele10.4
45reductional transverse limb defects10.4
46renal agenesis meningomyelocele mullerian defect10.4
47trigonomacrocephaly tibial defect polydactyly10.4
48thyroid hormonogenesis defect i10.4
49combined oxidative phosphorylation deficiency 210.4
50combined oxidative phosphorylation deficiency 510.4

Graphical network of the top 20 diseases related to Heterotaxy:



Diseases related to heterotaxy

Clinical Features for Heterotaxy

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Drugs & Therapeutics for Heterotaxy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Heterotaxy

Drug clinical trials:

Search ClinicalTrials for Heterotaxy

Search NIH Clinical Center for Heterotaxy

Search CenterWatch for Heterotaxy

Genetic Tests for Heterotaxy

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Heterotaxy:

32
Thyroid

Animal Models for Heterotaxy or affiliated genes

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36MGI
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Publications for Heterotaxy

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Genetic Variations for Heterotaxy

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Expression for genes affiliated with Heterotaxy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Heterotaxy

Search GEO for disease gene expression data for Heterotaxy.

Pathways for genes affiliated with Heterotaxy

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53Reactome, 12EMD Millipore, 29KEGG
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Pathways related to Heterotaxy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8NODAL, ACVR2B, CFC1
2
Hide members
9.8ACVR2B, NODAL, LEFTY2
39.8LEFTY2, NODAL, ACVR2B
4
Hide members
9.5LEFTY2, ACVR2B, NODAL, CFC1

Compounds for genes affiliated with Heterotaxy

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GO Terms for genes affiliated with Heterotaxy

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16Gene Ontology
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Cellular components related to Heterotaxy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.3GJA1, UVRAG, KCNE1

Biological processes related to Heterotaxy according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of activin receptor signaling pathwayGO:03292710.3NODAL, ACVR2B
2nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetryGO:190016410.2NODAL, CITED2
3embryonic process involved in female pregnancyGO:06013610.2CITED2, NODAL
4embryonic heart tube left/right pattern formationGO:06097110.1NKX2-5, CITED2
5positive regulation of cell-cell adhesionGO:02240910.1CITED2, NODAL
6endocardial cushion developmentGO:00319710.1CITED2, CRELD1
7epithelial cell maturationGO:00207010.0GJA1, KCNE1
8adult heart developmentGO:00751210.0NKX2-5, GJA1
9regulation of ventricular cardiac muscle cell membrane repolarizationGO:0603079.9GJA1, KCNE1
10ventricular septum morphogenesisGO:0604129.9CITED2, NKX2-5
11spleen developmentGO:0485369.9NKX2-5, CITED2
12determination of left/right symmetryGO:0073689.8CITED2, CFC1, ACVR2B, ZIC3
13embryonic placenta developmentGO:0018929.7NODAL, CITED2
14heart developmentGO:0075079.5ACVR2B, GJA1, CITED2
15neural tube closureGO:0018439.5SHROOM3, CITED2, ZIC5
16heart loopingGO:0019479.5ZIC3, NODAL, GJA1, NKX2-5, CITED2

Products for genes affiliated with Heterotaxy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet