... a combination of findings is known as Kartagener syndrome), and situs ambiguus (also known as Heterotaxy syndrome). These left- ... Alström syndrome, Meckel-Gruber syndrome, Sensenbrenner syndrome and some forms of retinal degeneration. Genetic mutations ... Worsley, Calum; Weerakkody, Yuranga (1 November 2009). "Heterotaxy syndrome". Radiopaedia.org. doi:10.53347/rID-7420. Retrieved ... Inherited defects in components of the transition zone cause ciliopathies, such as Joubert syndrome. Transition zone structure ...
Chirality (mathematics) Ivemark syndrome Situs inversus Situs solitus "heterotaxy syndrome". United States National Library of ... Heterotaxy syndrome with atrial isomerism occurs in 1 out of every 10,000 live births and is associated with approximately 3% ... Individuals of Asian descent show a higher prevalence of heterotaxy syndrome in general than members of the Western world. The ... Recent studies have shown higher rates of heterotaxy syndrome among Hispanic infants of Mexican descent, as well as female ...
"Heterotaxy syndrome". Radiopaedia. Retrieved 20 October 2017. Knapton, Sarah (21 October 2016). "Meet Jeremy the lonely snail ...
HPS6 Hermansky-Pudlak syndrome 7; 203300; DTNBP1 Hermansky-Pudlak syndrome 8; 203300; BLOC1S3 Heterotaxy, visceral, 1, S-linke ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
"Duplication and deletion of CFC1 associated with heterotaxy syndrome". DNA Cell Biol. 34 (2): 101-6. doi:10.1089/dna.2014.2616 ... Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital ... "CFC1 gene involvement in biliary atresia with polysplenia syndrome". J. Pediatr. Gastroenterol. Nutr. 46 (1): 111-2. doi: ...
The cause of heterotaxy is unknown. The Ivemark Syndrome Association, which is based in Dorset, is one of the organisations ... is an example of a heterotaxy syndrome. These uncommon congenital disorders are characterized by defects in the heart, spleen ... "Pancreatic aplasia in a fetus with asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome)". Birth Defects Research Part A ... "Ivemark Syndrome". National Organization for Rare Diseases. Archived from the original on 28 May 2009. Retrieved 2009-05-24. "' ...
Van Praagh, Richard; Van Praagh, Stella (1990). "Atrial isomerism in the heterotaxy syndromes with asplenia, or polysplenia, or ... Specific examples include Truncus Arteriosus, sinus venosus atrial septal defect, and heterotaxy syndrome. Society for ...
There are two distinct types of genetic disorders: heterotaxy syndrome and isolated congenital asplenia. polysplenia Acquired ...
It is frequently associated with heterotaxy syndrome. The interatrial septum can be divided into five septal zones. If the ... Fetal alcohol syndrome - about one in four patients with fetal alcohol syndrome has either an ASD or a ventricular septal ... Holt-Oram syndrome - both the osteium secundum and osteum primum types of ASD are associated with Holt-Oram syndrome ... Down syndrome - patients with Down syndrome have higher rates of ASDs, especially a particular type that involves the ...
These conditions considered together are called "polysplenia syndrome". Associated conditions include heterotaxy syndrome, ... "polysplenia" at Dorland's Medical Dictionary "polysplenia syndrome" at Dorland's Medical Dictionary Goldman, Lee (2011). ...
Unlike heterotaxy syndrome, the absent spleen (asplenia) is not associated with other structural developmental defects. In some ...
The role of DNAH5 in heterotaxy syndromes and left-right asymmetry is also under investigation. At least 50 genes have been ... The disorder is rarely referred to as Siewert's syndrome or Siewert-Kartagener syndrome. "DNAI1 - Dynein axonemal intermediate ... The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely ... Trials have also shown that there is a marked reduction in fertility in females with Kartagener's syndrome due to dysfunction ...
This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy syndromes. 45% ... AVCD is also linked with Noonan syndrome. The pattern seen in those patients with Noonan syndrome differ from those patients ... such as DiGeorge syndrome. The remaining 30-40% of cases are not linked to a syndrome, with AVCD observed without other major ... Down syndrome is often associated with AVCD. Other risk factors include: having a parent with a congenital heart defect, ...
If this process does not occur correctly in humans it can result in the syndromes heterotaxy or situs inversus. LR asymmetry is ...
... is an American female golfer who suffers from a heart defect known as heterotaxy syndrome as a result of being born with only ...
... described by Carlo Marceletti and Francisco Puga for Heterotaxy Syndrome) The Fontan procedure is the third procedure in the ... hypoplastic left heart syndrome or hypoplastic right heart syndrome), or a complex congenital heart disease where a bi- ... Whereas in hypoplastic left heart syndrome, the heart is more reliant on the more functional right ventricle to provide blood ... Ohye, Richard G.; Schranz, Dietmar; D'Udekem, Yves (2016-10-25). "Current Therapy for Hypoplastic Left Heart Syndrome and ...
Hypoplastic left heart syndrome Double inlet right ventricle Double outlet right ventricle Single ventricle heterotaxy syndrome ...
... disease Hersh-Podruch-Weisskopk syndrome Heterophobia Heterotaxia (generic term) Heterotaxia autosomal dominant type Heterotaxy ... Mcdonald syndrome Hunter-Jurenka-Thompson syndrome Hunter-Macpherson syndrome Hunter-Mcalpine syndrome Hunter-Mcdonald syndrome ... child Heavy metal poisoning HEC syndrome Hecht-Scott syndrome Heckenlively syndrome Heide syndrome Heliophobia HELLP syndrome ... Houlston-Ironton-Temple syndrome Howard-Young syndrome Howel-Evans syndrome Hoyeraal-Hreidarsson syndrome Hoyeraal syndrome HSV ...
Mutations in DNAH11 are also associated with Kartagener syndrome (PCD with situs inversus totalis, a congenital condition with ... and PCD individuals have increased rates of heterotaxy and situs inversus in approximately 50% of reported cases, a congenital ... In females with PCD or Kartagener's syndrome, there are increased reports of subfertility and risk of ectopic pregnancy. ... immotile cilia syndrome', and results from abnormally motile or static cilia within the respiratory tract. PCD is characterized ...
Visit Carpenter syndrome for more extensive details related to the disease. Genetic mutations in MEGF8 have been found to be a ... "Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy". Proceedings of the ... However, three SNP mutations were identified as causes of Carpenter Syndrome 2 by Twigg et al. The three SNP mutations are: ... Currently, researchers have found MEGF8 SNP mutations to be the cause of Carpenter syndrome subtype 2. A fairly highly ...
For example, mutation of ZIC3 is associated with heterotaxy, that is thought to occur due to the role of ZIC3 in initial left- ... May 2002). "A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice". ... "Entrez Gene: ZIC3 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)". Ware SM, Peng J, Zhu L, Fernbach S, ... Ware SM, Harutyunyan KG, Belmont JW (June 2006). "Heart defects in X-linked heterotaxy: evidence for a genetic interaction of ...
"Entry - #619702 - HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 - OMIM". www.omim.org. Retrieved 2023-09-16. Szenker-Ravi, ... C2orf69 In 2021, together with I. Kurth and colleagues, his team identified a fatal syndrome caused by the homozygous ... 2016-02-04). "De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental ... Goldwert, Lindsay (2012-05-15). "Rare Hamamy syndrome offers genetic insight into what causes heart disease, blood disorders". ...
Kartagener syndrome can also manifest with male infertility as functional cilia are required for proper sperm flagella function ... In rarer cases such as situs ambiguus or heterotaxy, situs cannot be determined. In these patients, the liver may be midline, ... If they do, they are said to have Kartagener syndrome, characterized by the triad of situs inversus, chronic sinusitis, and ... "Unilateral situs inversus of optic disc associated with reduced binocularity and stereoacuity resembling monofixation syndrome ...
... including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac ... heterotaxy, and atrioventricular septal defects. Congenital heart defects are known by a number of names including congenital ... A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome ... It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome ...