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

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

Name: Heterotaxy, Visceral, 1, X-Linked 54 50 66 69
Congenital Heart Defects, Multiple Types, 1, X-Linked 66 69
Congenital Heart Defects, Nonsyndromic, 1, X-Linked 54 13
Heterotaxy, Visceral, X-Linked 50 29
Heterotaxy Syndrome 42 69
Htx1 50 66
Situs Inversus with Complex Cardiac Defects and Splenic Defects X-Linked 66
Situs Inversus, Complex Cardiac Defects, and Splenic Defects, X-Linked 50
X-Linked Congenital Heart Defects Nonsyndromic 1 66
X-Linked Congenital Heart Disease Nonsyndromic 1 66
Dextrocardia with Other Cardiac Malformations 66
X-Linked Visceral Heterotaxy 1 50
Laterality, X-Linked 50
Laterality X-Linked 66
Chtd1 66

Characteristics:

HPO:

32
heterotaxy, visceral, 1, x-linked:
Onset and clinical course phenotypic variability
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 306955

Summaries for Heterotaxy, Visceral, 1, X-Linked

OMIM : 54 - 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 hypertelorism, failure to thrive and cardiomegaly. An important gene associated with Heterotaxy, Visceral, 1, X-Linked is ZIC3 (Zic Family Member 3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include heart, spleen and lung.

NIH Rare Diseases : 50 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 : 66 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

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

Symptoms by clinical synopsis from OMIM:

306955

Clinical features from OMIM:

306955

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

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 failure to thrive 32 HP:0001508
3 cardiomegaly 32 HP:0001640
4 patent ductus arteriosus 32 HP:0001643
5 ventricular septal defect 32 HP:0001629
6 pulmonic stenosis 32 HP:0001642
7 asplenia 32 HP:0001746
8 dextrocardia 32 HP:0001651
9 transposition of the great arteries 32 HP:0001669
10 mitral atresia 32 HP:0011560
11 renal agenesis 32 HP:0000104
12 abdominal situs inversus 32 HP:0003363
13 polysplenia 32 HP:0001748
14 atrial septal defect 32 HP:0001631
15 single ventricle 32 HP:0001750
16 posteriorly placed anus 32 HP:0012890

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

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

Cochrane evidence based reviews: heterotaxy syndrome

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

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

id Genetic test Affiliating Genes
1 Heterotaxy, Visceral, X-Linked 29

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

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

39
Heart, Spleen, Lung, Liver, Eye

Publications for Heterotaxy, Visceral, 1, X-Linked

Variations for Heterotaxy, Visceral, 1, X-Linked

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

66
id Symbol AA change Variation ID SNP ID
1 ZIC3 p.Thr323Met VAR_007753 rs122462165
2 ZIC3 p.Pro217Ala VAR_025632 rs104894963
3 ZIC3 p.Cys253Ser VAR_025633 rs104894961
4 ZIC3 p.His286Arg VAR_025634
5 ZIC3 p.Lys405Glu VAR_025635 rs104894962
6 ZIC3 p.Trp255Gly VAR_042416 rs122463168
7 ZIC3 p.Ser109Cys VAR_071332 rs373628598
8 ZIC3 p.Ala447Gly VAR_071334

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

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh37 Chromosome 19, 18979844: 18979844
2 ZIC3 NM_003413.3(ZIC3): c.968C> T (p.Thr323Met) single nucleotide variant Pathogenic rs122462165 GRCh37 Chromosome X, 136649818: 136649818
3 ZIC3 NM_003413.3(ZIC3): c.804C> A (p.Cys268Ter) single nucleotide variant Pathogenic rs122462166 GRCh37 Chromosome X, 136649654: 136649654
4 ZIC3 NM_003413.3(ZIC3): c.1222A> T (p.Lys408Ter) single nucleotide variant Pathogenic rs387906498 GRCh37 Chromosome X, 136651222: 136651222
5 ZIC3 NM_003413.3(ZIC3): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic rs104894960 GRCh37 Chromosome X, 136649595: 136649595
6 ZIC3 NM_003413.3(ZIC3): c.758G> C (p.Cys253Ser) single nucleotide variant Pathogenic rs104894961 GRCh37 Chromosome X, 136649608: 136649608
7 ZIC3 NM_003413.3(ZIC3): c.1213A> G (p.Lys405Glu) single nucleotide variant Pathogenic rs104894962 GRCh37 Chromosome X, 136651213: 136651213
8 ZIC3 ZIC3, 2-BP INS, 1507TT insertion Pathogenic
9 ZIC3 NM_003413.3(ZIC3): c.763T> G (p.Trp255Gly) single nucleotide variant Pathogenic rs122463168 GRCh37 Chromosome X, 136649613: 136649613
10 ZIC3 NM_003413.3(ZIC3): c.(?_-1)_(*1_?)del deletion Pathogenic
11 ZIC3 NM_003413.3(ZIC3): c.764G> C (p.Trp255Ser) single nucleotide variant Likely pathogenic rs886041111 GRCh38 Chromosome X, 137567455: 137567455
12 ZIC3 NM_003413.3(ZIC3): c.1025delC (p.Ser342Leufs) deletion Pathogenic rs886042663 GRCh37 Chromosome X, 136649875: 136649875

Expression for Heterotaxy, Visceral, 1, X-Linked

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

Pathways for Heterotaxy, Visceral, 1, X-Linked

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.44 ACVR2B ZIC3
2 10.77 ACVR2B ZIC3

GO Terms for Heterotaxy, Visceral, 1, X-Linked

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

id Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.26 ACVR2B ZIC3
2 anterior/posterior pattern specification GO:0009952 9.16 ACVR2B ZIC3
3 determination of left/right symmetry GO:0007368 8.96 ACVR2B ZIC3
4 pattern specification process GO:0007389 8.62 ACVR2B ZIC3

Sources for Heterotaxy, Visceral, 1, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....