Details of Disease

General Information of Disease (ID: DIS01H96)

• Disease Name: Heterotaxy, visceral, 1, X-linked
• Synonyms: X-linked visceral heterotaxy 1; congenital heart defects, multiple types, 1, X-linked; HTX1; laterality, X-linked; dextrocardia with Other Cardiac malformations; situs inversus, Complex Cardiac defects, and splenic defects, X-linked; heterotaxy, visceral, X-linked; heterotaxy, visceral, 1, X-linked, X-linked recessive; visceral heterotaxy caused by mutation in ZIC3; ZIC3 visceral heterotaxy; congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive; heterotaxy, visceral, 1, X-linked
• Definition: 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 individualscan 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.
• Disease Hierarchy:
  DIS1DV90: Visceral heterotaxy
  DIS01H96: Heterotaxy, visceral, 1, X-linked
• Disease Identifiers:
  MONDO ID: MONDO_0010607
  MESH ID: C538116
  UMLS CUI: C1844020
  OMIM ID: 306955
  MedGen ID: 336609

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZIC3	OTGPKZBA	Definitive	X-linked recessive	[1]
MAML3	OTZFV53Z	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACVR2B	TTLFRKS	Strong	Biomarker	[2]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [2] The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse.Genes Dev. 1997 Jul 15;11(14):1812-26. doi: 10.1101/gad.11.14.1812.
• [3] A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.Nat Genet. 2013 Jul;45(7):818-21. doi: 10.1038/ng.2636. Epub 2013 May 26.