Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement. In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right.
|Published (Last):||8 January 2009|
|PDF File Size:||12.31 Mb|
|ePub File Size:||20.18 Mb|
|Price:||Free* [*Free Regsitration Required]|
MIFTS : Expand all tables. Heterotaxia 12 74 58 29 6 Situs Ambiguus 12 Incomplete Situs Inversus Partial Situs Inversus Lateralization Defect Heterotaxia Syndrome 6. Heterotaxy, Visceral Heterotaxy Syndrome Situs Ambiguous Orphanet epidemiological data: 58 heterotaxia Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;. ICD 33 Congenital malformations, deformations and chromosomal abnormalities.
Other congenital malformations. Other congenital malformations, not elsewhere classified. Situs inversus. ICD10 via Orphanet 33 Q Disease Ontology : 12 A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. MalaCards based summary : Visceral Heterotaxy, also known as heterotaxia , is related to heterotaxy and right atrial isomerism. The drug Kava has been mentioned in the context of this disorder.
Graphical network of the top 20 diseases related to Visceral Heterotaxy:. Articles related to Visceral Heterotaxy: show top 50 show all Title Authors PMID Year 1 Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.
Narasimhan V Omran H. A human laterality disorder associated with recessive CCDC11 mutation. Perles Z Elpeleg O. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
Mohapatra B Ware SM. Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain. Hatayama M Aruga J. Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.
Chhin B Bouvagnet P. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Ware SM Belmont JW.
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Goldmuntz E Muenke M. Bamford RN Casey B. Kosaki R X-linked situs abnormalities result from mutations in ZIC3. Gebbia M X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects. Mathias RS Jones KL. Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome. Digilio MC Marino B.
Pre natal evaluation of heterotaxy syndrome by fetal echocardiography and correlating with autopsy. Routhu M Mohammad IA. Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd. Le Fevre A Scurr I. Rare case of septum primum malposition defect in dextrocardia and situs inversus totalis without heterotaxy syndrome. Jhaveri S Yaman M. Bove KE Magee JC. Roultella ornithinolytica infection in infancy: a case of febrile urinary tract infection.
De Petris L Ruffini E. Congenital portosystemic shunts: diagnosis and treatment. Franchi-Abella S International Registry of Congenital Portosystemic Shunt members.
Intrahepatic cholangiocarcinoma after Fontan procedure in an adult with visceral heterotaxy. Wang D Bove K. Animal left-right asymmetry. Blum M Ott T. Zhang XH. Ozkavukcu S Atabekoglu C. Anderson RH Loomba R. Dilated cardiomyopathy complicated with visceral heterotaxy. Tsuji M Komuro I. Belo JA Inacio JM. Schweickert A Blum M. Devanagondi R Prieto LR. Cell lineage of timed cohorts of Tbx6-expressing cells in wild-type and Tbx6 mutant embryos.
Concepcion D Papaioannou VE. Isolated severe leftward displacement of the septum primum: anatomic and 3D echocardiographic findings and surgical repair. Cuttone F Van Praagh R. Incidentally detected asplenia in a healthy year-old female live kidney donor. Wolff LD Dor FJMF.
Heterotaxy Syndrome (Isomerism)
Alternative titles; symbols. Heterotaxy, visceral, 3, autosomal 2 HTX3 7p Heterotaxy 'heter' meaning 'other' and 'taxy' meaning 'arrangement' , or situs ambiguus, is a developmental condition characterized by 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 Srivastava,
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes i. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement. In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right.
Heterotaxy, visceral, 4, autosomal
MIFTS : Expand all tables. Heterotaxia 12 74 58 29 6 Situs Ambiguus 12 Incomplete Situs Inversus
Heterotaxy, visceral, 3, autosomal 2 HTX3 7p Autosomal visceral heterotaxy-8 is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs summary by Vetrini et al. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 Vetrini et al. In 1 infant, the abnormalities were apparent on prenatal ultrasound at 21 weeks' gestation. The features were slightly different between the 2 sibs, but included atrial situs solitus, atrial situs ambiguus, unbalanced atrioventricular septal defect, left ventricular hypoplasia, double-outlet right ventricle with malposition of the great arteries, pulmonary atresia, right-sided stomach, left-sided liver, and right-sided spleen.