heterotaxy, visceral, 1, X-linked
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.
MONDO:0018677
visceral heterotaxy
is_a
HTX1
related
X-linked visceral heterotaxy 1
related
ZIC3 visceral heterotaxy
exact
congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive
exact
heterotaxy, visceral, 1, X-linked
exact
heterotaxy, visceral, 1, X-linked, X-linked recessive
exact
heterotaxy, visceral, X-linked
related
visceral heterotaxy caused by mutation in ZIC3
exact