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Multisystemic smooth muscle dysfunction syndrome(SMDYS)

MedGen UID:
462551
Concept ID:
C3151201
Disease or Syndrome
Synonyms: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY; SMDYS; SMOOTH MUSCLE DYSFUNCTION SYNDROME
SNOMED CT: Multisystemic smooth muscle dysfunction syndrome (782724001)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Gene (location): ACTA2 (10q23.31)
 
Monarch Initiative: MONDO:0013452
OMIM®: 613834
Orphanet: ORPHA404463

Definition

Smooth muscle dysfunction syndrome (SMDYS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder. It is caused by heterozygous mutations of the ACTA2 gene altering the arginine-179 codon (summary by Regalado et al., 2018). [from OMIM]

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Vascular dilatation
MedGen UID:
8076
Concept ID:
C0002940
Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
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.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
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.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Thoracic aortic aneurysm
MedGen UID:
56525
Concept ID:
C0162872
Anatomical Abnormality
An abnormal localized widening (dilatation) of the thoracic aorta.
Common carotid artery aneurysm
MedGen UID:
538980
Concept ID:
C0264965
Anatomical Abnormality
An abnormal widening (dilatation) of the common carotid artery.
Pulmonary artery dilatation
MedGen UID:
140900
Concept ID:
C0428851
Disease or Syndrome
An abnormal widening of the diameter of the pulmonary artery.
Aortic arch aneurysm
MedGen UID:
852900
Concept ID:
C0856748
Anatomical Abnormality
An abnormal localized widening (dilatation) of the aortic arch.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
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.
Dilatation of the cerebral artery
MedGen UID:
1386760
Concept ID:
C4476540
Anatomical Abnormality
The presence of a localized dilatation or ballooning of a cerebral artery.
Dilated left subclavian artery
MedGen UID:
1614246
Concept ID:
C4531247
Anatomical Abnormality
Abnormally increased caliber of the left subclavian artery.
Brachiocephalic artery aneurysm
MedGen UID:
1815076
Concept ID:
C5706170
Anatomical Abnormality
An abnormal widening (dilatation) of the brachiocephalic artery
Intestinal malrotation
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
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.
Hypoperistalsis
MedGen UID:
451002
Concept ID:
C0232475
Finding
Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.
Periventricular white matter hyperintensities
MedGen UID:
927595
Concept ID:
C4293686
Finding
Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.
Dysgyria
MedGen UID:
1690926
Concept ID:
C5139317
Congenital Abnormality
An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.
Tachypnea
MedGen UID:
66669
Concept ID:
C0231835
Finding
Very rapid breathing.
Mydriasis
MedGen UID:
10145
Concept ID:
C0026961
Sign or Symptom
Abnormal dilatation of the iris.
Retinal infarction
MedGen UID:
892492
Concept ID:
C0281967
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultisystemic smooth muscle dysfunction syndrome
Follow this link to review classifications for Multisystemic smooth muscle dysfunction syndrome in Orphanet.

Professional guidelines

PubMed

Kaw A, Kaw K, Hostetler EM, Beleza-Meireles A, Smith-Collins A, Armstrong C, Scurr I, Cotts T, Aatre R, Bamshad MJ, Earl D, Groner A, Agre K, Raveh Y, Kwartler CS, Milewicz DM
Am J Med Genet A 2022 Aug;188(8):2389-2396. Epub 2022 May 14 doi: 10.1002/ajmg.a.62775. PMID: 35567597Free PMC Article

Recent clinical studies

Etiology

Lupo V, Di Gregorio MG, Mastrogiorgio G, Magliozzi M, Scapillati ME, Maglione V, Romanelli E, Alegiani C, Haass C, Novelli A
Am J Med Genet A 2023 Apr;191(4):1111-1118. Epub 2023 Jan 6 doi: 10.1002/ajmg.a.63118. PMID: 36607831
Cuoco JA, Busch CM, Klein BJ, Benko MJ, Stein R, Nicholson AD, Marvin EA
Cerebrovasc Dis 2018;46(3-4):161-171. Epub 2018 Oct 9 doi: 10.1159/000493863. PMID: 30300893
Cooper K, Brown S
BMC Med Genet 2017 Dec 4;18(1):143. doi: 10.1186/s12881-017-0505-5. PMID: 29202781Free PMC Article
Moller HU, Fledelius HC, Milewicz DM, Regalado ES, Ostergaard JR
Br J Ophthalmol 2012 Sep;96(9):1227-31. Epub 2012 Jul 11 doi: 10.1136/bjophthalmol-2011-301462. PMID: 22790431Free PMC Article

Diagnosis

Nakamura A, Nomura S, Hara S, Thamamongood T, Maehara T, Nariai T, Khairullah S, Tan KS, Azuma K, Chida-Nagai A, Furutani Y, Hori T, Yamaguchi K, Kawamata T, Roder C, Akagawa H
Sci Rep 2024 Oct 4;14(1):22720. doi: 10.1038/s41598-024-72043-5. PMID: 39367156Free PMC Article
Lupo V, Di Gregorio MG, Mastrogiorgio G, Magliozzi M, Scapillati ME, Maglione V, Romanelli E, Alegiani C, Haass C, Novelli A
Am J Med Genet A 2023 Apr;191(4):1111-1118. Epub 2023 Jan 6 doi: 10.1002/ajmg.a.63118. PMID: 36607831
Micke KC, Stence NV, Meyers ML, Chatfield KC, Vemulakonda VM
Urology 2023 Mar;173:e17-e19. Epub 2022 Dec 7 doi: 10.1016/j.urology.2022.11.031. PMID: 36495950
She K, Liang L, Lu F
Medicine (Baltimore) 2021 Jun 4;100(22):e26094. doi: 10.1097/MD.0000000000026094. PMID: 34087854Free PMC Article
Cuoco JA, Busch CM, Klein BJ, Benko MJ, Stein R, Nicholson AD, Marvin EA
Cerebrovasc Dis 2018;46(3-4):161-171. Epub 2018 Oct 9 doi: 10.1159/000493863. PMID: 30300893

Prognosis

Kanamori K, Sakaguchi Y, Tsuda K, Ihara S, Miyama S
Brain Dev 2021 Apr;43(4):585-589. Epub 2020 Dec 17 doi: 10.1016/j.braindev.2020.12.001. PMID: 33342581
Mc Glacken-Byrne AB, Prentice D, Roshandel D, Brown MR, Tuch P, Yau KS, Sivadorai P, Davis MR, Laing NG, Chen FK
BMC Ophthalmol 2020 Feb 24;20(1):68. doi: 10.1186/s12886-020-01344-w. PMID: 32093627Free PMC Article
Cuoco JA, Busch CM, Klein BJ, Benko MJ, Stein R, Nicholson AD, Marvin EA
Cerebrovasc Dis 2018;46(3-4):161-171. Epub 2018 Oct 9 doi: 10.1159/000493863. PMID: 30300893
Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, Sobreira N, Cavalcanti DP
Am J Med Genet A 2016 Nov;170(11):2965-2974. Epub 2016 Aug 2 doi: 10.1002/ajmg.a.37857. PMID: 27481187Free PMC Article
Moller HU, Fledelius HC, Milewicz DM, Regalado ES, Ostergaard JR
Br J Ophthalmol 2012 Sep;96(9):1227-31. Epub 2012 Jul 11 doi: 10.1136/bjophthalmol-2011-301462. PMID: 22790431Free PMC Article

Clinical prediction guides

She K, Liang L, Lu F
Medicine (Baltimore) 2021 Jun 4;100(22):e26094. doi: 10.1097/MD.0000000000026094. PMID: 34087854Free PMC Article
Mc Glacken-Byrne AB, Prentice D, Roshandel D, Brown MR, Tuch P, Yau KS, Sivadorai P, Davis MR, Laing NG, Chen FK
BMC Ophthalmol 2020 Feb 24;20(1):68. doi: 10.1186/s12886-020-01344-w. PMID: 32093627Free PMC Article
Logeswaran T, Friedburg C, Hofmann K, Akintuerk H, Biskup S, Graef M, Rad A, Weber A, Neubauer BA, Schranz D, Bouvagnet P, Lorenz B, Hahn A
Am J Med Genet A 2017 Apr;173(4):959-965. doi: 10.1002/ajmg.a.38102. PMID: 28328125
Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, Sobreira N, Cavalcanti DP
Am J Med Genet A 2016 Nov;170(11):2965-2974. Epub 2016 Aug 2 doi: 10.1002/ajmg.a.37857. PMID: 27481187Free PMC Article

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