Phenotypes associated with the disease heterotaxy, visceral, 5, autosomal (OMIM:270100):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 14/14. (PMID:19064609)
- Single ventricle (HP:0001750): The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. Evidence: PCS. Frequency: 7/14. (PMID:19064609)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: PCS. Frequency: 5/14. (PMID:19064609)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: PCS. Frequency: 1/35. (PMID:9354794)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: PCS. Frequency: 1/14. (PMID:19064609)
- Atrial reentry tachycardia (HP:0011699). Evidence: PCS. Frequency: 2/14. (PMID:19064609)
- Double inlet left ventricle (HP:0011555): The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. Evidence: PCS. Frequency: 3/14. (PMID:19064609)
- Abdominal situs ambiguus (HP:0031565): An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. Evidence: PCS. Frequency: 17/35. (PMID:9354794)
- Absence of the sacrum (HP:0010305): Absence (aplasia) of the sacrum. Evidence: PCS. Frequency: 2/35. (PMID:9354794)
- Dextrotransposition of the great arteries (HP:0031348): A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. Evidence: PCS. Frequency: 10/14. (PMID:19064609)
- Right atrial isomerism (HP:0011536): Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. Evidence: PCS. Frequency: 1/14. (PMID:19064609)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 5/14. (PMID:19064609)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: PCS. Frequency: 4/14. (PMID:19064609)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: PCS. Frequency: 2/14. (PMID:19064609)
- Pulmonary artery atresia (HP:0004935): A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. Evidence: PCS. Frequency: 8/14. (PMID:19064609)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 4/14. (PMID:19064609)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: PCS. Frequency: 1/14. (PMID:19064609)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: PCS. Frequency: 1/35. (PMID:9354794)
- Abdominal situs inversus (HP:0003363): A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen. Evidence: PCS. Frequency: 3/18. Onset: Congenital onset (HP:0003577). (PMID:9354794)
- Abdominal situs inversus (HP:0003363): A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen. Evidence: PCS. Frequency: 5/14. (PMID:19064609)
- Ureteral duplication (HP:0000073): A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. Evidence: PCS. Frequency: 1/35. (PMID:9354794)
- Ascending tubular aorta aneurysm (HP:0004970): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: PCS. Frequency: 1/14. (PMID:19064609)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: PCS. Frequency: 1/14. (PMID:19064609)
- Ureteral stenosis (HP:0000071): The presence of a stenotic, i.e., constricted ureter. Evidence: PCS. Frequency: 1/35. (PMID:9354794)
- Partial anomalous pulmonary venous return (HP:0010773): A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. Evidence: PCS. Frequency: 1/14. (PMID:19064609)
- Total anomalous pulmonary venous return (HP:0005160): Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. Evidence: PCS. Frequency: 3/14. (PMID:19064609)
- Bilateral trilobed lung (HP:0011861): Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. Evidence: PCS. Frequency: 1/14. (PMID:19064609)
- Double outlet right ventricle (HP:0001719): Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. Evidence: PCS. Frequency: 3/14. (PMID:19064609)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: IEA. (OMIM:270100)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 9/14. (PMID:19064609)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:19064609)
- Duodenal atresia (HP:0002247): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: PCS. Frequency: 1/35. (PMID:9354794)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: PCS. Frequency: 1/14. (PMID:19064609)