HTX1
MCID: HTR014
MIFTS: 36

Heterotaxy, Visceral, 1, X-Linked (HTX1) malady

Categories: Genetic diseases, Rare diseases

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

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

Name: Heterotaxy, Visceral, 1, X-Linked 52 48 70 68
Congenital Heart Defects, Multiple Types, 1, X-Linked 70 68
Congenital Heart Defects, Nonsyndromic, 1, X-Linked 52 12
Heterotaxy, Visceral, X-Linked 48 27
Heterotaxy Syndrome 39 68
Htx1 48 70
Situs Inversus with Complex Cardiac Defects and Splenic Defects X-Linked 70
Situs Inversus, Complex Cardiac Defects, and Splenic Defects, X-Linked 48
 
X-Linked Congenital Heart Defects Nonsyndromic 1 70
X-Linked Congenital Heart Disease Nonsyndromic 1 70
Dextrocardia with Other Cardiac Malformations 70
X-Linked Visceral Heterotaxy 1 48
Laterality, X-Linked 48
Laterality X-Linked 70
Chtd1 70

Characteristics:

HPO:

64
heterotaxy, visceral, 1, x-linked:
Inheritance: x-linked inheritance, x-linked recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 306955

Summaries for Heterotaxy, Visceral, 1, X-Linked

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OMIM:52 - 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, multiple types, 1, x-linked, is related to heterotaxy and cardiac anomalies-heterotaxy syndrome, and has symptoms including renal agenesis, hypertelorism and failure to thrive. An important gene associated with Heterotaxy, Visceral, 1, X-Linked is ZIC3 (Zic Family Member 3), and among its related pathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include heart, spleen and liver.

NIH Rare Diseases:48 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

UniProtKB/Swiss-Prot:70 Congenital heart defects, multiple types, 1, X-linked: A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. Heterotaxy, visceral, 1, X-linked: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations.

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

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



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

Symptoms & Phenotypes for Heterotaxy, Visceral, 1, X-Linked

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Symptoms by clinical synopsis from OMIM:

306955

Clinical features from OMIM:

306955

Human phenotypes related to Heterotaxy, Visceral, 1, X-Linked:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 renal agenesis64 HP:0000104
2 hypertelorism64 HP:0000316
3 failure to thrive64 HP:0001508
4 ventricular septal defect64 HP:0001629
5 atrial septal defect64 HP:0001631
6 cardiomegaly64 HP:0001640
7 pulmonic stenosis64 HP:0001642
8 patent ductus arteriosus64 HP:0001643
9 dextrocardia64 HP:0001651
10 transposition of the great arteries64 HP:0001669
11 asplenia64 HP:0001746
12 polysplenia64 HP:0001748
13 single ventricle64 HP:0001750
14 abdominal situs inversus64 HP:0003363
15 mitral atresia64 HP:0011560
16 posteriorly placed anus64 HP:0012890

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

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Interventional clinical trials:

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


Cochrane evidence based reviews: heterotaxy syndrome

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-Linked27

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

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

36
Heart, Spleen, Liver, Lung, Eye

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:

70
id Symbol AA change Variation ID SNP ID
1ZIC3p.Thr323MetVAR_007753rs122462165
2ZIC3p.Pro217AlaVAR_025632rs104894963
3ZIC3p.Cys253SerVAR_025633rs104894961
4ZIC3p.His286ArgVAR_025634
5ZIC3p.Lys405GluVAR_025635rs104894962
6ZIC3p.Trp255GlyVAR_042416rs122463168
7ZIC3p.Ser109CysVAR_071332rs373628598
8ZIC3p.Ala447GlyVAR_071334

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZIC3NM_ 003413.3(ZIC3): c.968C> T (p.Thr323Met)SNVPathogenicrs122462165GRCh37Chr X, 136649818: 136649818
2ZIC3NM_ 003413.3(ZIC3): c.804C> A (p.Cys268Ter)SNVPathogenicrs122462166GRCh37Chr X, 136649654: 136649654
3ZIC3NM_ 003413.3(ZIC3): c.745C> T (p.Gln249Ter)SNVPathogenicrs104894960GRCh37Chr X, 136649595: 136649595
4ZIC3NM_ 003413.3(ZIC3): c.758G> C (p.Cys253Ser)SNVPathogenicrs104894961GRCh37Chr X, 136649608: 136649608
5ZIC3NM_ 003413.3(ZIC3): c.1213A> G (p.Lys405Glu)SNVPathogenicrs104894962GRCh37Chr X, 136651213: 136651213
6ZIC3ZIC3, 2-BP INS, 1507TTinsertionPathogenic
7ZIC3NM_ 003413.3(ZIC3): c.763T> G (p.Trp255Gly)SNVPathogenicrs122463168GRCh37Chr X, 136649613: 136649613
8ZIC3NM_ 003413.3(ZIC3): c.(?_ -1)_ (*1_ ?)deldeletionPathogenic
9ZIC3NM_ 003413.3(ZIC3): c.764G> C (p.Trp255Ser)SNVLikely pathogenicrs886041111GRCh38Chr X, 137567455: 137567455
10ZIC3NM_ 003413.3(ZIC3): c.1025delC (p.Ser342Leufs)deletionPathogenicrs886042663GRCh37Chr X, 136649875: 136649875

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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Pathways related to Heterotaxy, Visceral, 1, X-Linked according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ACVR2B, ZIC3
29.1ACVR2B, ZIC3

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

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Biological processes related to Heterotaxy, Visceral, 1, X-Linked according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1anterior/posterior pattern specificationGO:00099529.7ACVR2B, ZIC3
2determination of left/right symmetryGO:00073689.7ACVR2B, ZIC3
3lung developmentGO:00303249.6ACVR2B, ZIC3
4pattern specification processGO:00073899.1ACVR2B, ZIC3

Sources for Heterotaxy, Visceral, 1, X-Linked

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet