Phenotypes associated with the disease alveolar capillary dysplasia with misalignment of pulmonary veins (OMIM:265380):
- Right-to-left shunt (HP:0001694): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. Evidence: PCS. Frequency: 12/47. (PMID:27071622;OMIM:265380)
- Dysplastic tricuspid valve (HP:0030732): A congenital malformation of the tricuspid valve characterized by leaflet deformation. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 3/37. (PMID:27071622)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: TAS. (OMIM:265380)
- Syringomyelia (HP:0003396): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Pulmonic regurgitation (HP:0010444): The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. Evidence: PCS. (PMID:19500772)
- Pulmonary valve atresia (HP:0010882): A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Alveolar capillary dysplasia (HP:0033208): A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis. Evidence: PCS. Frequency: 44/51. (PMID:27071622;PMID:19500772)
- Hypoplastic aortic arch (HP:0012304): Underdevelopment of the arch of aorta. Evidence: PCS. Frequency: 2/37. (PMID:27071622)
- Posterior rib fusion (HP:0000913): Complete or partial merging of the posterior part of adjacent ribs. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Posterior rib fusion (HP:0000913): Complete or partial merging of the posterior part of adjacent ribs. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Bicuspid aortic valve (HP:0001647): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: PCS. Frequency: 4/51. Onset: Congenital onset (HP:0003577). (PMID:27071622;PMID:19500772)
- 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: PCS. Frequency: 1/37. (PMID:27071622)
- 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: 22/51. (PMID:27071622;PMID:19500772)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: PCS. Frequency: 2/37. (PMID:27071622)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Diastasis recti (HP:0001540): A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). Evidence: PCS. Frequency: 1/14. (PMID:19500772)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Persistent left superior vena cava (HP:0005301): A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. Evidence: PCS. Frequency: 3/37. (PMID:27071622)
- Esophageal atresia (HP:0002032): A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 2/37. (PMID:27071622)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/14. (PMID:19500772)
- Dilatation of the bladder (HP:0010955): The presence of a dilated urinary bladder. Evidence: PCS. Frequency: 2/14. (PMID:19500772)
- Choroid plexus cyst (HP:0002190): A cyst occurring within the choroid plexus within a cerebral ventricle. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Misalignment of the pulmonary veins (HP:0033186): The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins. Evidence: PCS. Frequency: 44/51. (PMID:27071622;PMID:19500772)
- Parachute mitral valve (HP:0011571): Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Chiari malformation (HP:0002308): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Pulmonary artery dilatation (HP:0004927): An abnormal widening of the diameter of the pulmonary artery. Evidence: PCS. Frequency: 2/51. (PMID:27071622;PMID:19500772)
- Annular pancreas (HP:0001734): A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. Evidence: PCS. Frequency: 2/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Annular pancreas (HP:0001734): A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. Evidence: PCS. Frequency: 4/37. (PMID:27071622)
- 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: 1/14. (PMID:19500772)
- Butterfly vertebrae (HP:0003316): A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. Evidence: PCS. Frequency: 2/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Butterfly vertebrae (HP:0003316): A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. Evidence: PCS. Frequency: 2/37. (PMID:27071622)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: PCS. Frequency: 2/37. (PMID:27071622)
- 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:19500772)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: PCS. Frequency: 2/51. (PMID:27071622;PMID:19500772)
- 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: 1/14. (PMID:19500772)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 13/51. (PMID:27071622;PMID:19500772)
- 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: 3/37. Onset: Neonatal onset (HP:0003623). (PMID:27071622)
- Meckel diverticulum (HP:0002245): Meckel's diverticulum is a congenital diverticulum located in the distal ileum. Evidence: PCS. Frequency: 1/14. (PMID:19500772)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Dilatation of the renal pelvis (HP:0010946): The presence of dilatation of the renal pelvis. Evidence: PCS. Frequency: 3/14. (PMID:19500772)
- Single umbilical artery (HP:0001195): Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. Evidence: PCS. Frequency: 3/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Single umbilical artery (HP:0001195): Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. Evidence: PCS. Frequency: 7/37. (PMID:27071622)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 2/37. (PMID:27071622)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: PCS. Frequency: 2/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: PCS. Frequency: 5/37. (PMID:27071622)
- 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: 5/37. (PMID:27071622)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Atrioventricular canal defect (HP:0006695): A defect of the atrioventricular septum of the heart. Evidence: PCS. Frequency: 6/37. (PMID:27071622)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: PCS. Frequency: 2/37. (PMID:27071622)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/14. (PMID:19500772)
- Pulmonary artery stenosis (HP:0004415): An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. Evidence: PCS. Frequency: 2/37. (PMID:27071622)
- Right ventricular hypertrophy (HP:0001667): In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. Evidence: PCS. Frequency: 2/37. (PMID:27071622)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: PCS. Frequency: 1/14. (PMID:19500772)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Thickened nuchal skin fold (HP:0000474): A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. Evidence: PCS. Frequency: 1/37. (PMID:27071622)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: PCS. Frequency: 6/51. (PMID:27071622;PMID:19500772)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: PCS. Frequency: 3/37. Onset: Congenital onset (HP:0003577). (PMID:27071622)
- 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. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 1/14. (PMID:19500772)
- Congenital shortened small intestine (HP:0030889): Substantially shortened length of the small intestine as a result of a developmental defect. Evidence: PCS. Frequency: 1/14. (PMID:19500772)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 1/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 2/37. (PMID:27071622)
- Pulmonary lymphangiectasia (HP:0006521): Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. Evidence: PCS. Frequency: 1/14. (PMID:19500772)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 10/13. (PMID:19500772)
- 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: 2/14. Onset: Congenital onset (HP:0003577). (PMID:19500772)
- 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: 4/37. (PMID:27071622)
- 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: 4/51. (PMID:27071622;PMID:19500772)
- 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: 11/51. (PMID:27071622;PMID:19500772)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/14. (PMID:19500772)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Onset: Neonatal onset (HP:0003623). (PMID:19500772)