MCID: HTR014
MIFTS: 27

Heterotaxy, Visceral, 1, X-Linked 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 49 45 67 65
Congenital Heart Defects, Multiple Types, 1, X-Linked 67 65
Congenital Heart Defects, Nonsyndromic, 1, X-Linked 49 11
Heterotaxy, Visceral, X-Linked 45 24
Htx1 45 67
Situs Inversus with Complex Cardiac Defects and Splenic Defects X-Linked 67
Situs Inversus, Complex Cardiac Defects, and Splenic Defects, X-Linked 45
 
X-Linked Congenital Heart Defects Nonsyndromic 1 67
X-Linked Congenital Heart Disease Nonsyndromic 1 67
Dextrocardia with Other Cardiac Malformations 67
X-Linked Visceral Heterotaxy 1 45
Laterality, X-Linked 45
Laterality X-Linked 67
Chtd1 67

Characteristics:

HPO:

61
heterotaxy, visceral, 1, x-linked:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM49 306955
UMLS65 C1844020, C3151867

Summaries for Heterotaxy, Visceral, 1, X-Linked

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OMIM:49 - 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 zic3-related visceral heterotaxy, and has symptoms including abdominal situs inversus, polysplenia and asplenia. An important gene associated with Heterotaxy, Visceral, 1, X-Linked is ZIC3 (Zic Family Member 3). Affiliated tissues include heart, spleen and lung.

NIH Rare Diseases:45 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:67 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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Diseases related to Heterotaxy, Visceral, 1, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1zic3-related visceral heterotaxy11.8

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

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

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

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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, Lung, Liver, Eye

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:

67
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:

5
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
8ZIC3NM_003413.3(ZIC3): c.49G> T (p.Gly17Cys)single nucleotide variantPathogenicrs147232392GRCh38Chr X, 137566740: 137566740
9ZIC3NM_003413.3(ZIC3): c.(?_-1)_(*1_?)deldeletionPathogenic

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

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Sources for Heterotaxy, Visceral, 1, X-Linked

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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