MCID: HTR014
MIFTS: 32

Heterotaxy, Visceral, 1, X-Linked malady

Genetic diseases, Rare diseases categories

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

About this section

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

Name: Heterotaxy, Visceral, 1, X-Linked 45 41 60
Congenital Heart Defects, Nonsyndromic, 1, X-Linked 45 10
Heterotaxy, Visceral, X-Linked 41 22
Heterotaxy Syndrome 41 60
Situs Inversus, Complex Cardiac Defects, and Splenic Defects, X-Linked 41
X-Linked Visceral Heterotaxy 1 41
 
Lateralization Defect 41
Laterality, X-Linked 41
Visceral Heterotaxy 41
Heterotaxia 41
Htx1 41


Classifications:

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


External Ids:

OMIM45 306955

Summaries for Heterotaxy, Visceral, 1, X-Linked

About this section


OMIM:45 - 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 zic3-related visceral heterotaxy and cfc1-related 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:41 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

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

About this section

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1zic3-related visceral heterotaxy10.4
2cfc1-related visceral heterotaxy10.4
3nodal-related visceral heterotaxy10.4
4acvr2b-related visceral heterotaxy10.4
5lefty2-related visceral heterotaxy10.4
6atrioventricular septal defect10.3
7atrioventricular septal defect 210.2
8atrioventricular block10.2
9aortic coarctation10.2
10bacteremia10.2
11dilated cardiomyopathy10.2
12vascular disease10.2
13ventricular septal defect10.2
14aneurysm10.2
15laterality defects dominant10.1
16dextrocardia10.1
17splenic infarction10.1
18congenital pseudoarthrosis of clavicle10.1
19heterotaxy, visceral, 2, autosomal10.1
20heterotaxy, visceral, 4, autosomal10.1
21heterotaxy, visceral, 3, autosomal10.1
22heterotaxy, visceral, 510.1
23budd-chiari syndrome10.0
24asplenia, isolated congenital10.0
25total anomalous pulmonary venous return10.0
26pulmonary hypertension10.0
27arteriovenous malformation10.0
28patent ductus arteriosus10.0
29subclavian steal syndrome10.0
30pancreatitis10.0
31agenesis of the dorsal pancreas10.0
32aortopulmonary window10.0
33complete atrioventricular canal10.0
34gastric duplication cysts10.0
35isolated levocardia10.0
36pulmonary arteriovenous malformation10.0
37pulmonary vein stenosis10.0
38restrictive dermopathy, lethal9.9
39visceral myopathy9.9
40ellis-van creveld syndrome9.9
41joubert syndrome 19.9
42meacham syndrome9.9
43smith-lemli-opitz syndrome9.9
44johanson-blizzard syndrome9.9
45marden-walker syndrome9.9
46renpenning syndrome9.9
47alport syndrome9.9
48escobar syndrome9.9
49meckel syndrome 19.9
50craniorachischisis9.9

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

About this section

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

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Heterotaxy, Visceral, X-Linked22

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

About this section

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

31
Heart, Spleen, Eye, Liver, Lung

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

About this section

Publications for Heterotaxy, Visceral, 1, X-Linked

About this section

Variations for Heterotaxy, Visceral, 1, X-Linked

About this section

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

62
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:

6
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

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

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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Heterotaxy, Visceral, 1, X-Linked

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet