MCID: HTR014
MIFTS: 31

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 50 46 68 66
Congenital Heart Defects, Nonsyndromic, 1, X-Linked 50 12
Heterotaxy, Visceral, X-Linked 46 25
Htx1 46 68
Situs Inversus with Complex Cardiac Defects and Splenic Defects X-Linked 68
Situs Inversus, Complex Cardiac Defects, and Splenic Defects, X-Linked 46
Congenital Heart Defects, Multiple Types, 1, X-Linked 68
X-Linked Congenital Heart Disease Nonsyndromic 1 68
 
X-Linked Congenital Heart Defects Nonsyndromic 1 68
Dextrocardia with Other Cardiac Malformations 68
X-Linked Visceral Heterotaxy 1 46
Laterality, X-Linked 46
Heterotaxy Syndrome 37
Laterality X-Linked 68
Chtd1 68

Characteristics:

HPO:

62
heterotaxy, visceral, 1, x-linked:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM50 306955

Summaries for Heterotaxy, Visceral, 1, X-Linked

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OMIM:50 - 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 cardiac anomalies-heterotaxy syndrome, and has symptoms including ventricular septal defect, pulmonic stenosis and patent ductus arteriosus. An important gene associated with Heterotaxy, Visceral, 1, X-Linked is ZIC3 (Zic Family Member 3). Affiliated tissues include heart, spleen and liver.

NIH Rare Diseases:46 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:68 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 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 ventricular septal defect HP:0001629
2 pulmonic stenosis HP:0001642
3 patent ductus arteriosus HP:0001643
4 dextrocardia HP:0001651
5 asplenia HP:0001746
6 polysplenia HP:0001748
7 abdominal situs inversus HP:0003363

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-Linked25

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

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

34
Heart, Spleen, Liver, Lung, 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:

68
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)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 variantPathogenicrs147232392GRCh37Chr X, 136648899: 136648899
9ZIC3NM_003413.3(ZIC3): c.(?_-1)_(*1_?)deldeletionPathogenic
10NM_001492.5(GDF1): c.681C> A (p.Cys227Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121434422GRCh37Chr 19, 18979844: 18979844

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet