Phenotypes associated with the disease multisystemic smooth muscle dysfunction syndrome (OMIM:613834):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 5/5. (PMID:20734336)
- Aortic arch aneurysm (HP:0005113): An abnormal localized widening (dilatation) of the aortic arch. Evidence: PCS. Frequency: 2/5. (PMID:20734336)
- Thoracic aortic aneurysm (HP:0012727): An abnormal localized widening (dilatation) of the thoracic aorta. Evidence: PCS. Frequency: 5/5. (PMID:20734336)
- Periventricular white matter hyperintensities (HP:0030891): Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. Evidence: TAS. (OMIM:613834)
- Brachiocephalic artery aneurysm (HP:0034324): An abnormal widening (dilatation) of the brachiocephalic artery. Evidence: PCS. Frequency: 2/5. (PMID:20734336)
- Dysgyria (HP:0032398): An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. Evidence: PCS. Frequency: 12/13. (PMID:34857515)
- Mydriasis (HP:0011499): Abnormal dilatation of the iris. Evidence: PCS. Frequency: 5/5. Onset: Congenital onset (HP:0003577). (PMID:20734336)
- 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: TAS. (OMIM:613834)
- Common carotid artery aneurysm (HP:0034325): An abnormal widening (dilatation) of the common carotid artery. Evidence: PCS. Frequency: 2/5. (PMID:20734336)
- Hypoperistalsis (HP:0100771): Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. Evidence: PCS. Frequency: 2/5. (PMID:20734336)
- Dilated left subclavian artery (HP:0031252): Abnormally increased caliber of the left subclavian artery. Evidence: PCS. Frequency: 1/5. (PMID:20734336)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:613834)
- Pulmonary artery dilatation (HP:0004927): An abnormal widening of the diameter of the pulmonary artery. Evidence: PCS. Frequency: 3/5. (PMID:20734336)
- Vascular dilatation (HP:0002617): An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). Evidence: PCS. (PMID:20734336)
- 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: 5/5. (PMID:20734336)
- 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: 1/5. (PMID:20734336)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: TAS. (OMIM:613834)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: PCS. Frequency: 4/5. Onset: Neonatal onset (HP:0003623). (PMID:20734336)
- 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:20734336)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/2. (PMID:20734336)
- 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: 2/5. (PMID:20734336)
- Retinal infarction (HP:0007866). Evidence: TAS. (OMIM:613834)