Phenotypes associated with the disease Pancreatic hypoplasia-diabetes-congenital heart disease syndrome (ORPHA:2255):
- Neonatal insulin-dependent diabetes mellitus (HP:0000857). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2255)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2255)
- 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. Frequency: Very frequent (HP:0040281). (ORPHA:2255)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2255)
- Exocrine pancreatic insufficiency (HP:0001738): Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2255)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2255)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2255)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2255)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2255)
- Intermittent diarrhea (HP:0002254): Repeated episodes of diarrhea separated by periods without diarrhea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2255)
- Pancreatic hypoplasia (HP:0002594): Hypoplasia of the pancreas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2255)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2255)
- Hernia (HP:0100790). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2255)
- Pancreatic aplasia (HP:0100801): Aplasia of the pancreas. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2255)
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- Prolonged partial thromboplastin time (HP:0003645): Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- Hypoplasia of right ventricle (HP:0004762): Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- Hypoplastic tricuspid valve (HP:0011573): Congenital defect characterized by underdevelopment of the tricuspid valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- Double outlet left ventricle (HP:0011581): A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2255)
- Ureteral duplication (HP:0000073): A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- Cervical ribs (HP:0000891). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- Biliary atresia (HP:0005912): Atresia of the biliary tree. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- Anterior pituitary agenesis (HP:0010626): Absence of the anterior pituitary gland resulting from a developmental defect. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- Aplasia/Hypoplasia of the gallbladder (HP:0011466): Absence or underdevelopment of the gallbladder. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- Congenital defect of the pericardium (HP:0011628): A developmental defect of the pericardium with congenital onset. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)
- Mild microcephaly (HP:0040196): Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2255)