Phenotypes associated with the disease heterotaxy, visceral, 1, X-linked (OMIM:306955):
- Congenital hip dislocation (HP:0001374). Evidence: PCS. Frequency: 1/11. (PMID:8298651)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 1/9. Onset: Congenital onset (HP:0003577). (PMID:14681828)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- 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: 4/11. (PMID:8298651)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: PCS. Frequency: 2/9. Onset: Congenital onset (HP:0003577). (PMID:14681828)
- 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: 1/2. (PMID:8298651)
- 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: 3/11. (PMID:8298651)
- Hypoplastic aortic arch (HP:0012304): Underdevelopment of the arch of aorta. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:306955)
- Hypoplastic toenails (HP:0001800): Underdevelopment of the toenail. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: PCS. Frequency: 2/13. (PMID:8298651;PMID:21465648)
- 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: 1/9. Onset: Congenital onset (HP:0003577). (PMID:14681828)
- 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: 1/2. (PMID:21465648)
- Block vertebrae (HP:0003305): Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: PCS. Frequency: 6/11. (PMID:8298651)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: PCS. Frequency: 2/13. (PMID:8298651;PMID:21465648)
- 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: 11/13. (PMID:8298651;PMID:14681828)
- Common atrium (HP:0011565): Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. Evidence: TAS. (OMIM:306955)
- Bilateral superior vena cava (HP:0033379): The presence of a left and a right superior vena cava. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:14681828)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: PCS. Frequency: 1/9. Onset: Congenital onset (HP:0003577). (PMID:14681828)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: IEA. (OMIM:306955)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 2/9. (PMID:14681828)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Bilateral talipes equinovarus (HP:0001776): Bilateral clubfoot deformity. Evidence: PCS. Frequency: 2/13. (PMID:8298651;PMID:21465648)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 11/11. (PMID:8298651)
- Complete atrioventricular canal defect (HP:0001674): A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. Evidence: PCS. Frequency: 1/11. (PMID:8298651)
- 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: 3/20. (PMID:8298651;PMID:14681828)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: PCS. Frequency: 2/2. (PMID:21465648)
- Absence of the sacrum (HP:0010305): Absence (aplasia) of the sacrum. Evidence: PCS. Frequency: 1/11. (PMID:8298651)
- 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: 11/12. (PMID:21465648;PMID:14681828)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. (OMIM:306955)
- Posteriorly placed anus (HP:0012890): Posterior malposition of the anus. Evidence: PCS. Frequency: 1/11. (PMID:8298651)
- Mitral atresia (HP:0011560): A congenital defect with failure to open of the mitral valve orifice. Evidence: PCS. Frequency: 2/11. (PMID:8298651)
- Transposition of the great arteries (HP:0001669): A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. Evidence: PCS. Frequency: 6/11. (PMID:8298651;PMID:14681828)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: PCS. Frequency: 7/12. (PMID:8298651;PMID:14681828)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Polysplenia (HP:0001748): Polysplenia is a congenital disease manifested by multiple small accessory spleens. Evidence: PCS. Frequency: 2/5. (PMID:8298651)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Aqueductal stenosis (HP:0002410): Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Subvalvular aortic stenosis (HP:0001682): A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- 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: 1/11. (PMID:8298651)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: PCS. Frequency: 3/11. (PMID:8298651)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: IEA. (OMIM:306955)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- 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: 2/2. (PMID:21465648)
- 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: 1/2. (PMID:8298651)
- 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: 4/9. Onset: Congenital onset (HP:0003577). (PMID:14681828)
- 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: 2/11. (PMID:8298651)
- 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: 1/2. (PMID:21465648)
- Mitral stenosis (HP:0001718): An abnormal narrowing of the orifice of the mitral valve. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Left superior vena cava draining to coronary sinus (HP:0011670): A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- Biliary atresia (HP:0005912): Atresia of the biliary tree. Evidence: PCS. Frequency: 1/11. (PMID:8298651)
- 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: TAS. (OMIM:306955)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: PCS. Frequency: 1/2. (PMID:21465648)
- 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: 1/11. (PMID:8298651)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. (OMIM:306955)