MCID: HTR014
MIFTS: 36

Heterotaxy, Visceral, 1, X-Linked malady

Genetic diseases, Rare diseases categories

Summaries for Heterotaxy, Visceral, 1, X-Linked

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OMIM:47 - Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a... (306955) more...

MalaCards based summary: Heterotaxy, Visceral, 1, X-Linked, also known as congenital heart defects, nonsyndromic, 1, x-linked, is related to heterotaxy and visceral heterotaxy, and has symptoms including x-linked inheritance, ventricular septal defect and pulmonic stenosis. An important gene associated with Heterotaxy, Visceral, 1, X-Linked is ZIC3 (Zic family member 3). Affiliated tissues include heart, spleen and eye.

NIH Rare Diseases:43 X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. heterotaxy is the right/left transposition of thoracic and/or abdominal organs. this condition is caused by mutations in the zic3 gene, is inherited in an x-linked recessive fashion, and is usually seen in males. physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia. last updated: 11/9/2011

Aliases & Classifications for Heterotaxy, Visceral, 1, X-Linked

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Heterotaxy, Visceral, 1, X-Linked, Aliases & Descriptions:

Name: Heterotaxy, Visceral, 1, X-Linked 47 43
Congenital Heart Defects, Nonsyndromic, 1, X-Linked 47 11
Heterotaxy, Visceral, X-Linked 43 24
Situs Inversus, Complex Cardiac Defects, and Splenic Defects, X-Linked 43
X-Linked Visceral Heterotaxy 1 43
Lateralization Defect 43
 
Laterality, X-Linked 43
Visceral Heterotaxy 43
Heterotaxy Syndrome 43
Heterotaxia 43
Htx1 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


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OMIM47 306955

Related Diseases for Heterotaxy, Visceral, 1, X-Linked

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Diseases related to Heterotaxy, Visceral, 1, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1heterotaxy10.9
2visceral heterotaxy10.4
3zic3-related visceral heterotaxy10.4
4cfc1-related visceral heterotaxy10.4
5levocardia10.4
6isolated levocardia10.3
7nodal-related visceral heterotaxy10.3
8acvr2b-related visceral heterotaxy10.3
9lefty2-related visceral heterotaxy10.3
10atrioventricular septal defect10.3
11atrioventricular septal defect 210.2
12atrioventricular block10.2
13aortic coarctation10.2
14heterotaxy, visceral, 2, autosomal10.2
15heterotaxy, visceral, 4, autosomal10.2
16heterotaxy, visceral, 3, autosomal10.2
17bacteremia10.2
18heterotaxy, visceral, 510.2
19dilated cardiomyopathy10.2
20congenital heart disease10.2
21vascular disease10.2
22ventricular septal defect10.2
23aneurysm10.2
24dextrocardia10.1
25splenic infarction10.1
26congenital pseudoarthrosis of clavicle10.1
27laterality defects dominant10.1
28budd-chiari syndrome10.0
29asplenia, isolated congenital10.0
30total anomalous pulmonary venous return10.0
31pulmonary hypertension10.0
32arteriovenous malformation10.0
33patent ductus arteriosus10.0
34subclavian steal syndrome10.0
35pancreatitis10.0
36agenesis of the dorsal pancreas10.0
37aortopulmonary window10.0
38complete atrioventricular canal10.0
39gastric duplication cysts10.0
40pulmonary arteriovenous malformation10.0
41pulmonary vein stenosis10.0
42restrictive dermopathy, lethal9.9
43visceral myopathy9.9
44ellis-van creveld syndrome9.9
45joubert syndrome 19.9
46meacham syndrome9.9
47smith-lemli-opitz syndrome9.9
48johanson-blizzard syndrome9.9
49marden-walker syndrome9.9
50renpenning syndrome9.9

Graphical network of the top 20 diseases related to Heterotaxy, Visceral, 1, X-Linked:



Diseases related to heterotaxy, visceral, 1, x-linked

Symptoms for Heterotaxy, Visceral, 1, X-Linked

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Symptoms by clinical synopsis from OMIM:

306955

Clinical features from OMIM:

306955

HPO human phenotypes related to Heterotaxy, Visceral, 1, X-Linked:

(show all 8)
id Description Frequency HPO Source Accession
1 x-linked inheritance HP:0001417
2 ventricular septal defect HP:0001629
3 pulmonic stenosis HP:0001642
4 patent ductus arteriosus HP:0001643
5 dextrocardia HP:0001651
6 asplenia HP:0001746
7 polysplenia HP:0001748
8 abdominal situs inversus HP:0003363

Drugs & Therapeutics for Heterotaxy, Visceral, 1, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Heterotaxy, Visceral, 1, X-Linked

Search NIH Clinical Center for Heterotaxy, Visceral, 1, X-Linked

Genetic Tests for Heterotaxy, Visceral, 1, X-Linked

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Genetic tests related to Heterotaxy, Visceral, 1, X-Linked:

id Genetic test Affiliating Genes
1 Heterotaxy, Visceral, X-Linked24

Anatomical Context for Heterotaxy, Visceral, 1, X-Linked

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MalaCards organs/tissues related to Heterotaxy, Visceral, 1, X-Linked:

33
Heart, Spleen, Eye, Liver, Lung

Animal Models for Heterotaxy, Visceral, 1, X-Linked or affiliated genes

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Publications for Heterotaxy, Visceral, 1, X-Linked

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Variations for Heterotaxy, Visceral, 1, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Heterotaxy, Visceral, 1, X-Linked:

64
id Symbol AA change Variation ID SNP ID
1ZIC3p.Thr323MetVAR_007753
2ZIC3p.Pro217AlaVAR_025632
3ZIC3p.Cys253SerVAR_025633
4ZIC3p.His286ArgVAR_025634
5ZIC3p.Lys405GluVAR_025635
6ZIC3p.Trp255GlyVAR_042416
7ZIC3p.Ser109CysVAR_071332
8ZIC3p.Ala447GlyVAR_071334

Clinvar genetic disease variations for Heterotaxy, Visceral, 1, X-Linked:

7
id Gene Variation Type Significance SNP ID Assembly Location
1ZIC3NM_003413.3(ZIC3): c.968C> T (p.Thr323Met)single nucleotide variantPathogenicrs122462165GRCh37Chr X, 136649818: 136649818
2ZIC3NM_003413.3(ZIC3): c.804C> A (p.Cys268Ter)single nucleotide variantPathogenicrs122462166GRCh37Chr X, 136649654: 136649654
3ZIC3NM_003413.3(ZIC3): c.745C> T (p.Gln249Ter)single nucleotide variantPathogenicrs104894960GRCh37Chr X, 136649595: 136649595
4ZIC3NM_003413.3(ZIC3): c.758G> C (p.Cys253Ser)single nucleotide variantPathogenicrs104894961GRCh37Chr X, 136649608: 136649608
5ZIC3NM_003413.3(ZIC3): c.1213A> G (p.Lys405Glu)single nucleotide variantPathogenicrs104894962GRCh37Chr X, 136651213: 136651213
6ZIC3ZIC3, 2-BP INS, 1507TTinsertionPathogenic
7ZIC3NM_003413.3(ZIC3): c.763T> G (p.Trp255Gly)single nucleotide variantPathogenicrs122463168GRCh37Chr X, 136649613: 136649613

Expression for genes affiliated with Heterotaxy, Visceral, 1, X-Linked

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Search GEO for disease gene expression data for Heterotaxy, Visceral, 1, X-Linked.

Pathways for genes affiliated with Heterotaxy, Visceral, 1, X-Linked

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Compounds for genes affiliated with Heterotaxy, Visceral, 1, X-Linked

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GO Terms for genes affiliated with Heterotaxy, Visceral, 1, X-Linked

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Products for genes affiliated with Heterotaxy, Visceral, 1, X-Linked

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Sources for Heterotaxy, Visceral, 1, X-Linked

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet