Phenotypes associated with the disease megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (OMIM:619351):
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 4/4. (PMID:25407000;PMID:31427716)
- Peritonitis (HP:0002586): Inflammation of the peritoneum. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Megacystis (HP:0000021): Dilatation of the bladder postnatally. Evidence: PCS. Frequency: 2/2. (PMID:25407000;PMID:29575632)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 1/1. (PMID:25407000)
- Fetal megacystis (HP:0010956): Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. Evidence: PCS. Frequency: 5/5. (PMID:25407000;PMID:29575632;PMID:31427716)
- Microcolon (HP:0004388): A colon of abnormally small caliber. Evidence: PCS. Frequency: 2/2. (PMID:25407000;PMID:29575632)
- Bronchomalacia (HP:0002780): Weakness or softness of the cartilage in the walls of the bronchial tubes. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Thoracic aortic aneurysm (HP:0012727): An abnormal localized widening (dilatation) of the thoracic aorta. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Elevated pulmonary artery pressure (HP:0004890): An abnormally elevated blood pressure in the circulation of the pulmonary artery. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Prune belly (HP:0004392): A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. Evidence: PCS. Frequency: 1/1. (PMID:25407000)
- Mydriasis (HP:0011499): Abnormal dilatation of the iris. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Ileal atresia (HP:0011102): An abnormal closure, or atresia of the tubular structure of the ileum. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Pyelonephritis (HP:0012330): An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Renal cortical hyperechogenicity (HP:0033132): Increased echogenecity of the kidney cortex. Evidence: PCS. Frequency: 1/1. (PMID:25407000)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Bidirectional shunt (HP:0012383): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa. Evidence: PCS. Frequency: 1/1. (PMID:29575632)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 5/5. (PMID:25407000;PMID:29575632;PMID:31427716)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:25407000)
- Anuria (HP:0100519): Absence of urine, clinically classified as below 50ml/day. Evidence: PCS. Frequency: 1/1. (PMID:25407000)
- 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: 1/1. (PMID:29575632)
- Respiratory failure requiring assisted ventilation (HP:0004887): A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. Evidence: PCS. Frequency: 1/1. (PMID:29575632)