{"Name":"Multisystemic smooth muscle dysfunction syndrome","DiseaseID__c":"GARD:0012811","id":12811,"encodedName":"multisystemic-smooth-muscle-dysfunction-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Multisystemic smooth muscle dysfunction syndrome","Xref_IDs__c":"782724001; C3151201; MEDGEN:462551; MONDO:0013452; OMIM:613834; ORPHA:404463","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":9,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013452","Disease_Description__c":"Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals.","GARD_Name__c":"Multisystemic smooth muscle dysfunction syndrome","GARD_Synonym__c":"acta2-related smooth muscle dysfunction syndrome; mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy; smdys; smooth muscle dysfunction syndrome","Curated_Disease_Description_Source__c":"GARD:0012811","Curated_Disease_Description__c":"Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain genetic change in the ACTA2 gene has been shown to cause this condition in some individuals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:404463","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0013452","ORPHANET_ID__c":"ORPHA:404463","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome multisistémico de disfunción de los músculos lisos","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome multisistémico de disfunción de los músculos lisos","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98028","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypoperistalsis). A certain genetic change in the ACTA2 gene has been shown to cause this condition in some individuals.","Curated_Disease_Description_Source__c":"GARD:0012811","GARD_Synonym__c":"acta2-related smooth muscle dysfunction syndrome; mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy; smdys; smooth muscle dysfunction syndrome","Name":"Multisystemic smooth muscle dysfunction syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ACTA2 Alliance","Website__c":"https://www.acta2alliance.org/"},{"Account_Name__c":"National Organization of Vascular Anomalies","Website__c":"https://www.novanews.org/"},{"Account_Name__c":"The John Ritter Foundation for Aortic Health","Website__c":"https://johnritterfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:404463"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3151201"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012811","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/404463","Source__c":"C3151201; MONDO:0013452; ORPHA:404463","Xref__c":"ORPHA:404463"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462551","Source__c":"C3151201","Xref__c":"MEDGEN:462551"},{"URL__c":"https://www.omim.org/entry/613834","Source__c":"C3151201; MONDO:0013452; ORPHA:404463","Xref__c":"OMIM:613834"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151201","Source__c":"C3151201","Xref__c":"C3151201"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013452","Source__c":"GARD:0012811","Xref__c":"MONDO:0013452"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782724001","Source__c":"C3151201","Xref__c":"782724001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACTA2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/acta2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100771","HPO_Name__c":"Hypoperistalsis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal localized widening (dilatation) of the aortic arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005113","HPO_Name__c":"Aortic arch aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal localized widening (dilatation) of the thoracic aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012727","HPO_Name__c":"Thoracic aortic aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007866","HPO_Name__c":"Retinal infarction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002566","HPO_Synonym__c":"Malrotation","HPO_Name__c":"Intestinal malrotation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032398","HPO_Name__c":"Dysgyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","Feature__r":{"HPO_Description__c":"Abnormal outpouching or sac-like dilatation in the wall of an artery, vein or the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002617","HPO_Synonym__c":"Aneurysmal dilatation; Wider than typical opening or gap","HPO_Name__c":"Vascular dilatation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal widening (dilatation) of the brachiocephalic artery","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034324","HPO_Synonym__c":"Dilatated brachiocephalic artery; Innominate artery aneurysm","HPO_Name__c":"Brachiocephalic artery aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal widening (dilatation) of the common carotid artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034325","HPO_Name__c":"Common carotid artery aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal dilatation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011499","HPO_Synonym__c":"Dilated pupil","HPO_Name__c":"Mydriasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","Feature__r":{"HPO_Description__c":"The presence of a localized dilatation or ballooning of a cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004944","HPO_Name__c":"Dilatation of the cerebral artery","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased caliber of the left subclavian artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031252","HPO_Name__c":"Dilated left subclavian artery","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613834","Feature__r":{"HPO_Description__c":"Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030891","HPO_Synonym__c":"PVWMH","HPO_Name__c":"Periventricular white matter hyperintensities","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"OMIM:613834","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal widening of the diameter of the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004927","HPO_Name__c":"Pulmonary artery dilatation","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Neurology","Gastroenterology","Urogenital Disorders"],"Specialist":["Genetics","Pulmonology","Neurology","Ophthalmology","Gastroenterology","Urologist","Anterior segment of Eye","Vascular Medicine","Pediatrics"]},"synonyms":["acta2-related smooth muscle dysfunction syndrome"," mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy"," smdys"," smooth muscle dysfunction syndrome"]}