MSMDS
MCID: MLT073
MIFTS: 44

Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS)

Categories: Cardiovascular diseases, Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Multisystemic Smooth Muscle Dysfunction Syndrome

MalaCards integrated aliases for Multisystemic Smooth Muscle Dysfunction Syndrome:

Name: Multisystemic Smooth Muscle Dysfunction Syndrome 56 52 58 73 29 13 6 39 71
Mydriasis, Congenital, with Patent Ductus Arteriosus, Thoracic Aortic Aneurysm, and Vasculopathy 56
Mydriasis Congenital with Patent Ductus Arteriosus Thoracic Aortic Aneurysm and Vasculopathy 73
Congenital Mydriasis, Patent Ductus Arteriosus, Thoracic Aortic Aneurysm, and Vasculopathy 52
Mydriasis 43
Msmdys 73
Msmds 56

Characteristics:

Orphanet epidemiological data:

58
multisystemic smooth muscle dysfunction syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

31
multisystemic smooth muscle dysfunction syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare gastroenterological diseases


Summaries for Multisystemic Smooth Muscle Dysfunction Syndrome

OMIM : 56 Multisystemic smooth muscle dysfunction syndrome (MSMDS) 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). See also familial thoracic aortic aneurysm (AAT6; 611788) and moyamoya disease-5 (MYMY5; 614042), which can also be caused by ACTA2 mutation. (613834)

MalaCards based summary : Multisystemic Smooth Muscle Dysfunction Syndrome, also known as mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy, is related to moyamoya disease 5 and mydriasis, congenital. An important gene associated with Multisystemic Smooth Muscle Dysfunction Syndrome is ACTA2 (Actin Alpha 2, Smooth Muscle), and among its related pathways/superpathways is nNOS Signaling in Skeletal Muscle. The drugs Nepafenac and Dipivefrin have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, eye and brain, and related phenotypes are pulmonary arterial hypertension and cryptorchidism

NIH Rare Diseases : 52 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 in some individuals.

UniProtKB/Swiss-Prot : 73 Multisystemic smooth muscle dysfunction syndrome: A syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.

Wikipedia : 74 Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disorder caused by R179 missense... more...

Related Diseases for Multisystemic Smooth Muscle Dysfunction Syndrome

Diseases related to Multisystemic Smooth Muscle Dysfunction Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 189)
# Related Disease Score Top Affiliating Genes
1 moyamoya disease 5 29.1 ACTA2-AS1 ACTA2
2 mydriasis, congenital 12.4
3 atypical mycobacteriosis, familial 12.3
4 immunodeficiency 30 12.1
5 cycloplegia 11.6
6 immunodeficiency 27a 11.4
7 immunodeficiency 28 11.4
8 immunodeficiency 33 11.3
9 spinal atrophy ophthalmoplegia pyramidal syndrome 11.3
10 immunodeficiency 29 11.2
11 immunodeficiency 31a 11.2
12 immunodeficiency 32a 11.2
13 immunodeficiency 27b 11.2
14 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency 11.2
15 hyper-ige recurrent infection syndrome 2, autosomal recessive 11.2
16 immunodeficiency 34 11.1
17 immunodeficiency 38 with basal ganglia calcification 11.1
18 immunodeficiency 42 11.1
19 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency 11.1
20 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency 11.1
21 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency 11.1
22 x-linked mendelian susceptibility to mycobacterial diseases 11.1
23 autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency 11.1
24 cataract 10.7
25 anisocoria 10.5
26 migraine with or without aura 1 10.5
27 kearns-sayre syndrome 10.4
28 intraocular pressure quantitative trait locus 10.4
29 ptosis 10.4
30 patent ductus arteriosus 1 10.4
31 ataxia and polyneuropathy, adult-onset 10.3
32 microvascular complications of diabetes 5 10.3
33 horner's syndrome 10.3
34 keratoconus 10.3
35 miller fisher syndrome 10.3
36 headache 10.3
37 pulmonary hypertension 10.3
38 exudative vitreoretinopathy 1 10.3
39 hemophagocytic lymphohistiocytosis 10.2
40 salmonellosis 10.2
41 osteomyelitis 10.2
42 chickenpox 10.2
43 mycobacterium abscessus 10.2
44 cerebrovascular disease 10.2
45 lung disease 10.2
46 ocular motor apraxia 10.2
47 yemenite deaf-blind hypopigmentation syndrome 10.2
48 acute closed-angle glaucoma 10.2
49 eye disease 10.2
50 refractive error 10.2

Graphical network of the top 20 diseases related to Multisystemic Smooth Muscle Dysfunction Syndrome:



Diseases related to Multisystemic Smooth Muscle Dysfunction Syndrome

Symptoms & Phenotypes for Multisystemic Smooth Muscle Dysfunction Syndrome

Human phenotypes related to Multisystemic Smooth Muscle Dysfunction Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 pulmonary arterial hypertension 31 HP:0002092
2 cryptorchidism 31 HP:0000028
3 hypertension 31 HP:0000822
4 patent ductus arteriosus 31 HP:0001643
5 intestinal malrotation 31 HP:0002566
6 tachypnea 31 HP:0002789
7 mydriasis 31 HP:0011499
8 dilatation of the cerebral artery 31 HP:0004944
9 thoracic aortic aneurysm 31 HP:0012727
10 periventricular white matter hyperdensities 31 HP:0030891
11 retinal infarction 31 HP:0007866
12 hyperperistalsis 31 HP:0100770

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism

Respiratory:
tachypnea

Abdomen Gastrointestinal:
hyperperistalsis
malrotation

Respiratory Lung:
lung disease, non-specific

Neurologic Central Nervous System:
periventricular white matter hyperintensities, bilateral

Cardiovascular Vascular:
patent ductus arteriosus
thoracic aortic aneurysm
pulmonary hypertension
small vessel retinal infarcts and aneurysms
dilated pulmonary arteries
more
Abdomen External Features:
prune belly

Head And Neck Eyes:
mydriasis, congenital
small vessel retinal infarcts and aneurysms

Genitourinary Bladder:
hypotonic bladder

Clinical features from OMIM:

613834

Drugs & Therapeutics for Multisystemic Smooth Muscle Dysfunction Syndrome

Drugs for Multisystemic Smooth Muscle Dysfunction Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
2
Dipivefrin Approved Phase 4 52365-63-6 3105
3
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
4
Physostigmine Approved, Investigational Phase 4 57-47-6 5983
5
Lorazepam Approved Phase 4 846-49-1 3958
6
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
7
Phenylephrine Approved Phase 4 59-42-7 6041
8
Pseudoephedrine Approved Phase 4 90-82-4 7028
9
Ephedrine Approved Phase 4 299-42-3 9294
10
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
11
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
12
Racepinephrine Approved Phase 4 329-65-7 838
13
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
14 Adrenergic alpha-Antagonists Phase 4
15 Hypnotics and Sedatives Phase 4
16 Psychotropic Drugs Phase 4
17 Anti-Anxiety Agents Phase 4
18 Cholinesterase Inhibitors Phase 4
19 GABA Modulators Phase 4
20 Anticonvulsants Phase 4
21 Cholinergic Agents Phase 4
22 Ophthalmic Solutions Phase 4
23 Muscarinic Antagonists Phase 4
24 Cholinergic Antagonists Phase 4
25 Anesthetics Phase 4
26 Anti-Arrhythmia Agents Phase 4
27 Parasympatholytics Phase 4
28 Adrenergic alpha-Agonists Phase 4
29 Respiratory System Agents Phase 4
30 Neurotransmitter Agents Phase 4
31 Cardiotonic Agents Phase 4
32 Vasoconstrictor Agents Phase 4
33 Nasal Decongestants Phase 4
34 Adrenergic Agents Phase 4
35 Pharmaceutical Solutions Phase 4
36 Adrenergic Agonists Phase 4
37 Sympathomimetics Phase 4
38 Mydriatics Phase 4
39 Adrenergic beta-Agonists Phase 4
40 Epinephryl borate Phase 4
41 Anti-Asthmatic Agents Phase 4
42 Bronchodilator Agents Phase 4
43 Analgesics, Non-Narcotic Phase 4
44 Analgesics Phase 4
45 Cyclooxygenase Inhibitors Phase 4
46 Antirheumatic Agents Phase 4
47 Anti-Inflammatory Agents, Non-Steroidal Phase 4
48
Tropicamide Approved, Investigational Phase 3 1508-75-4 5593
49
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
50
Cyclopentolate Approved Phase 3 512-15-2 2905

Interventional clinical trials:

(show top 50) (show all 70)
# Name Status NCT ID Phase Drugs
1 Effect of Anti-inflammatory Topical Prednisolone Acetate 1%, Nepafenac of 0.1% and Ketorolac Tromethamine 0.4% in Intra-operative Mydriasis in Facetectomies Unknown status NCT00865540 Phase 4 prednisolone acetate 1%;ketorolac tromethamine 0.4%;nepafenac 0.1%;methylcellulose 0.5%
2 2.5% and 10% Phenylephrine for Mydriasis in Diabetic Patients With Darkly Pigmented Irides Completed NCT00501878 Phase 4 2.5% or 10% phenylephrine
3 Comparison of Conventional Instillation and Lower Conjunctival Fornix Packing in Mydriasis for Premature Infants Completed NCT00877175 Phase 4 1% tropicamide and 2.5% phenylephrine
4 Visual Outcomes After Implantation of a New Refractive Toric Multifocal Intraocular Lens Completed NCT01505816 Phase 4
5 Intraidivisual Comparison of Functional Vision Provided by AMO Tecnis Z9000 and ALcon SA60AT Acrysof Posterior Chamber Intraocular Lenses Completed NCT00459303 Phase 4
6 The Effects of Low Dose Atropine on Choroidal Thickness Completed NCT03544827 Phase 4 Atropine;Atropine
7 Combined Subconjunctival Atropine and Intracameral Epinephrine Injection for Pupil Dilation in Phacoemulsification Under Peribulbar Anesthesia. Recruiting NCT03638726 Phase 4 Atropine sulfate and epinephrine;Topical cyclopentolate and phenylephrine
8 A Randomized Trial Comparing Physostigmine vs Lorazepam for Treatment of Adolescent Antimuscarinic (Anticholinergic) Toxidrome Recruiting NCT03090620 Phase 4 Physostigmine;Lorazepam
9 Exploration of Pupil Dilation in Horner's Patients Taking Flomax Recruiting NCT03615508 Phase 4 10% phenylephrine
10 Atropine for Children and Adolescent Myopia Progression Study (ACAMP) Enrolling by invitation NCT03949101 Phase 4 Atropine Sulfate 1 % Ophthalmic Ointment and Atropine Sulfate 0.01% Eye Drop;atropine 0.01% eye drop
11 Prospective Comparison of Epinephrine and Phenylephrine/Ketorolac (Omidria®) Additives With Regards to Intraoperative Pupil Size Terminated NCT02895035 Phase 4 Phenylephrine-ketorolac;Epinephrine
12 Topical 0.4% Ketorolac for the Inhibition of Miosis During Vitreoretinal Surgery: a Randomized, Placebo-controlled, Double-masked Study Completed NCT00576329 Phase 2, Phase 3 Ketorolac
13 Effect of Intracameral Injection of Preservative Free, Fixed Concentration of Combined Mydriatic Plus Anaesthetic Formulation on Corneal Endothelial Cell Count in Phacoemulsification Completed NCT04396301 Phase 3 Fydrane®: (Manufacturer DELPHARM TOURS, FRANCE).
14 A Double-Masked, Active-Controlled Study of the Safety and Efficacy of Phenylephrine 2.5%-Tropicamide 1% Ophthalmic Solution Administered With a Microdose Dispenser for Dilation of the Pupil Completed NCT03751631 Phase 3 Phenylephrine 2.5%-tropicamide 1% ophthalmic solution;Phenylephrine 2.5% ophthalmic solution;Tropicamide 1% ophthalmic solution
15 A Multi-Center, Double-Masked, Placebo-Controlled, Phase 3 Study of the Safety and Efficacy of Fixed Combination Phenylephrine 2.5%-Tropicamide 1% Ophthalmic Solution Administered With a Microdose Dispenser for Dilation of the Pupil Completed NCT03751098 Phase 3 Phenylephrine 2.5%-tropicamide 1% ophthalmic solution;Placebo
16 Single Dose of 1% Tropicamide and 10% Phenylephrine for Pupillary Dilation Completed NCT00120432 Phase 3 1% tropicamide and 10% phenylephrine
17 A Phase 3 Randomized, Double-Masked, Placebo-Controlled Study of the Pharmacokinetics of OMS302 and the Effect of OMS302 on Intraoperative Pupil Diameter and Early Postoperative Pain in Subjects Undergoing Intraocular Lens Replacement With Phacoemulsification Completed NCT01579565 Phase 3 OMS302;Placebo
18 A Phase 3 Randomized, Double-Masked, Placebo-Controlled Study of the Effect of OMS302 on Intraoperative Pupil Diameter and Early Postoperative Pain in Subjects Undergoing Intraocular Lens Replacement With Phacoemulsification Completed NCT01454063 Phase 3 OMS302;Placebo
19 Efficacy and Safety Assessment of Intracameral Injection of T2380 in Cataract Surgery Versus Reference Group (Topical Mydriatics and Anaesthetic) Completed NCT02101359 Phase 3 T2380;Mydriatics;Tetracaine
20 Efficacy and Tolerance of Ophthalmic Insert Mydriasert® Versus Reference Treatment (Phenylephrine and Tropicamide Eyedrops) in Premature Newborns, Neonates and Infants Justifying a Mydriasis for a Bilateral Diagnosis Fundus Terminated NCT00642135 Phase 3 Mydriasert®;phenylephrine and tropicamide eyedrops
21 Randomized, Cross-Over, Double-Masked, Placebo-Controlled Study of the Safety and Efficacy of Phentolamine Mesylate Ophthalmic Solution to Reverse Pharmacologically Induced Mydriasis in Normal Healthy Subjects Completed NCT04024891 Phase 2 Phentolamine Mesylate Ophthalmic Solution 1%
22 A Single-Center, Open-Label, Observer-Masked, Active-Controlled, Phase 2 Study of the Safety, Efficacy and Pharmacokinetics of EYN-1601 in Dilation of the Pupil Completed NCT02946125 Phase 2 MDD-administered EYN-1601;Phenylephrine 2.5% Eyedrop;Phenylephrine 10% Eyedrop
23 Enhanced Pupil Dilation in Patients Taking Alpha-Blockers for Potential Treatment of Intraoperative Floppy Iris Syndrome Recruiting NCT03760185 Phase 2 Brimonidine Tartrate
24 Nepafenac Versus Ketorolac Eye Drops in Prevention of Intraoperative Miosis During Cataract Surgery Not yet recruiting NCT03851172 Phase 2 Ketorolac Ophthalmic;Nepafenac Ophthalmic;Cyclopentolate Ophthalmic
25 A Parallel Group Study With Three Different α-antagonists and Placebo Once Daily Over Three Weeks to Assess Their Influence on the Extent of Weekly Phenylephrine-induced Mydriasis at Three Different Concentrations of Phenylephrine in Healthy Male Volunteers Completed NCT02266537 Phase 1 Tamsulosin;Alfuzosin;Doxazosin;Placebo
26 A Randomized, Three-Sequence, Three-Period Crossover Study to Assess the Bioavailability and Pharmacokinetics of a Single Dose of Atropine Administered Sublingually in Healthy Adult Volunteers Completed NCT04290039 Phase 1 Atropine Sulfate Ophthalmic Solution;Atropine Sulphate Injection
27 The Effect of Brimonidine on Intraocular Pressure When Dilating Routine Patients, Pressure Control and Pupil Effects Completed NCT03139708 Phase 1 Alphagan;Phenylephrine;Tropicamide
28 Evaluation of the FIM - a Non Invasive Device for Temporarily and Quick Pupil Dilation (Mydriasis) Unknown status NCT01946828
29 Ocular Point of Care Ultrasound (POCUS) to Detect Optic Disc Swelling in Comparison to Ophthalmologic Examination Unknown status NCT02992262
30 Visual Performance of Pseudophakic Patient With Different Intraocular Lenses Unknown status NCT01763411
31 Compare Anterior Chamber Biometry in Healthy and Post-LASIK Pati Unknown status NCT00838734
32 Methods to Manage Intra-operative Floppy-iris Syndrome and Poor Pupil Dilation in Cataract Surgery: an Exploratory Study Unknown status NCT01778959
33 Mannheim Obesity Pilot Study: Evaluation of Metabolic Und Cardiovascular Risk in Obesity Unknown status NCT00770276
34 Cycloplegic Delivery Investigation Completed NCT00472524
35 Efficiency and Safety of Lidocaine Usage for Pupil Dilatation (Mydriasis) During Cataract Surgery Completed NCT01170130 Lidocaine 1% (sterile)
36 "Eye Protection After Mydriatic Use for ROP Screening: Impact on Vitals Signs and Pain Scores" Completed NCT01860534
37 Preoperative Cataract Pupillary Dilation: Inpatient vs Outpatient Completed NCT01169688
38 Study of Intracameral Adrenaline for Pupil Dilation Without Topical Mydriatics in Refractive Cataract Surgery Completed NCT01264653 adrenalin
39 The Effect of Eyemasks on Neonatal Stress Following Dilated Retinal Examination, a Randomized Clinical Trial Completed NCT03824782
40 Low Concentrations of Atropine for Controlling Myopia Progression in School Children Completed NCT02130167 Atropine
41 A Randomized Controlled Trial to Determine the Lowest Effective Dose for Adequate Mydriasis in Premature Infants Completed NCT01054027 1% phenylephrine and 0.2% cyclopentolate
42 Pain Assessment by Pupil Dilation Reflex (PDR) and Pupillary Pain Index (PPI) in Response to Noxious Stimulation in Anesthetized Adults Completed NCT03140241
43 Pupillary Dilation Reflex (PDR) Evaluation During General Anesthesia: a Pilot Study Completed NCT02942316
44 Do Pupil Dilation and Analgesia Nociception Index Reflect Pain: a Pilot Study in Healthy, Conscious Volunteers Completed NCT03280238
45 Reduction of Foveal Sensitivity in Eyes With Diabetic Macular Oedema, With and Without Centre Involvement Completed NCT01824862
46 Applicability of the Acai Fruit (Euterpe Oleracea) Dye for Chromovitrectomy in Humans Completed NCT02691429
47 Electrophysiological Responses to External Stimuli of Patients Evaluated as Unconscious Patient in Critical Care Units: Preliminary Results of 10 Patients Completed NCT03858400
48 Study of the Efficiency and Workflow of Femtosecond Laser Assisted Cataract Surgery in a Spanish Public Hospital Completed NCT03931629
49 Brain Integrity in Survivors of Hodgkin Lymphoma (HL) Treated With Thoracic Radiation Completed NCT01820117
50 Corneal Changes in Diabetics After Phacoemulsification Completed NCT02548273

Search NIH Clinical Center for Multisystemic Smooth Muscle Dysfunction Syndrome

Cochrane evidence based reviews: mydriasis

Genetic Tests for Multisystemic Smooth Muscle Dysfunction Syndrome

Genetic tests related to Multisystemic Smooth Muscle Dysfunction Syndrome:

# Genetic test Affiliating Genes
1 Multisystemic Smooth Muscle Dysfunction Syndrome 29 ACTA2

Anatomical Context for Multisystemic Smooth Muscle Dysfunction Syndrome

MalaCards organs/tissues related to Multisystemic Smooth Muscle Dysfunction Syndrome:

40
Smooth Muscle, Eye, Brain, Lung, Bone, Retina, Endothelial

Publications for Multisystemic Smooth Muscle Dysfunction Syndrome

Articles related to Multisystemic Smooth Muscle Dysfunction Syndrome:

(show all 25)
# Title Authors PMID Year
1
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. 6 56
29300374 2018
2
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 56 6
24998021 2014
3
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 56 6
20734336 2010
4
Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum? 56 6
15472996 2004
5
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? 56 6
14730227 2004
6
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. 56 6
10532176 1999
7
Analysis of ACTA2 in European Moyamoya disease patients. 6
20970362 2011
8
Aneurysmal Dilatation of Ductus Arteriosus and Pulmonary Artery in Association With ACTA2 Mutation. 61
32452246 2020
9
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report. 61
32093627 2020
10
Efficacy and safety of galcanezumab for preventive treatment of migraine: a systematic review and meta-analysis. 61
32006159 2020
11
Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature. 61
31911919 2019
12
The genetic architecture of aniridia and Gillespie syndrome. 61
30242502 2019
13
Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes. 61
29575632 2018
14
ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke. 61
30300893 2018
15
ACTA2 mutation and postpartum hemorrhage: a case report. 61
29202781 2017
16
Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome. 61
27549731 2017
17
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. 61
28816420 2017
18
[Multisystemic smooth muscle dysfunction syndrome in children: a case report and literature review]. 61
28822439 2017
19
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. 61
28328125 2017
20
Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings. 61
27567161 2017
21
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. 61
27481187 2016
22
Large Pupils in Infancy. . .Suspected Aniridia. Multisystemic smooth muscle dysfunction syndrome secondary to an ACTA2 mutation. 61
26835993 2016
23
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 61
24621862 2014
24
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. 61
22790431 2012
25
Mississippi's physician labor force: current status and future challenges. 61
14752973 2004

Variations for Multisystemic Smooth Muscle Dysfunction Syndrome

ClinVar genetic disease variations for Multisystemic Smooth Muscle Dysfunction Syndrome:

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTA2 ACTA2, ARG179SERundetermined variant Pathogenic 911956
2 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His)SNV Pathogenic 29598 rs387906592 10:90701066-90701066 10:88941309-88941309
3 ACTA2 NM_001613.4(ACTA2):c.201G>C (p.Leu67=)SNV Conflicting interpretations of pathogenicity 136278 rs199773697 10:90707072-90707072 10:88947315-88947315
4 ACTA2 NM_001613.4(ACTA2):c.936C>T (p.Ala312=)SNV Conflicting interpretations of pathogenicity 263863 rs200213764 10:90697872-90697872 10:88938115-88938115
5 ACTA2 NM_001613.4(ACTA2):c.420G>A (p.Ala140=)SNV Conflicting interpretations of pathogenicity 264091 rs762567614 10:90701576-90701576 10:88941819-88941819
6 ACTA2 NM_001141945.2(ACTA2):c.-23-3831T>CSNV Conflicting interpretations of pathogenicity 877877 10:90712541-90712541 10:88952784-88952784
7 ACTA2 NM_001613.4(ACTA2):c.*105G>TSNV Conflicting interpretations of pathogenicity 301504 rs149059995 10:90694875-90694875 10:88935118-88935118
8 ACTA2 NM_001613.4(ACTA2):c.808+14G>ASNV Conflicting interpretations of pathogenicity 301507 rs774120023 10:90699250-90699250 10:88939493-88939493
9 ACTA2 NM_001613.4(ACTA2):c.390T>C (p.Asn130=)SNV Conflicting interpretations of pathogenicity 301509 rs141933412 10:90701606-90701606 10:88941849-88941849
10 ACTA2 NM_001613.4(ACTA2):c.174C>T (p.Asp58=)SNV Conflicting interpretations of pathogenicity 386329 rs150547139 10:90707099-90707099 10:88947342-88947342
11 ACTA2 NM_001613.4(ACTA2):c.*28A>TSNV Uncertain significance 301506 rs143005546 10:90694952-90694952 10:88935195-88935195
12 ACTA2 NM_001613.4(ACTA2):c.-56C>TSNV Uncertain significance 301512 rs886047454 10:90712520-90712520 10:88952763-88952763
13 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+399C>TSNV Uncertain significance 301516 rs886047456 10:90750297-90750297 10:88990540-88990540
14 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+236C>TSNV Uncertain significance 301518 rs886047457 10:90750460-90750460 10:88990703-88990703
15 ACTA2 NM_001613.4(ACTA2):c.369+7A>GSNV Uncertain significance 301510 rs760471677 10:90703547-90703547 10:88943790-88943790
16 ACTA2 NM_001141945.2(ACTA2):c.-23-3850C>GSNV Uncertain significance 877878 10:90712560-90712560 10:88952803-88952803
17 ACTA2 NM_001613.4(ACTA2):c.258+5G>TSNV Uncertain significance 879456 10:90707010-90707010 10:88947253-88947253
18 ACTA2 , FAS NM_000043.6(FAS):c.-10C>ASNV Uncertain significance 301521 rs200181814 10:90750624-90750624 10:88990867-88990867
19 ACTA2 NM_001613.4(ACTA2):c.*122T>CSNV Uncertain significance 301503 rs886047451 10:90694858-90694858 10:88935101-88935101
20 ACTA2 NM_001613.4(ACTA2):c.13G>C (p.Glu5Gln)SNV Uncertain significance 301511 rs886047453 10:90708675-90708675 10:88948918-88948918
21 ACTA2 NM_001141945.2(ACTA2):c.-23-3869A>GSNV Uncertain significance 301513 rs886047455 10:90712579-90712579 10:88952822-88952822
22 ACTA2 NM_001613.4(ACTA2):c.*43A>GSNV Uncertain significance 301505 rs886047452 10:90694937-90694937 10:88935180-88935180
23 ACTA2 NM_001613.4(ACTA2):c.*104C>GSNV Uncertain significance 877831 10:90694876-90694876 10:88935119-88935119
24 ACTA2 NM_001613.4(ACTA2):c.645G>A (p.Lys215=)SNV Uncertain significance 877990 10:90699427-90699427 10:88939670-88939670
25 ACTA2 NM_001613.4(ACTA2):c.456C>T (p.Gly152=)SNV Uncertain significance 877991 10:90701146-90701146 10:88941389-88941389
26 ACTA2 NM_001613.4(ACTA2):c.24T>G (p.Thr8=)SNV Uncertain significance 879816 10:90708664-90708664 10:88948907-88948907
27 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+409G>ASNV Likely benign 301515 rs56220100 10:90750287-90750287 10:88990530-88990530
28 ACTA2 NR_125373.1(ACTA2-AS1):n.690C>TSNV Likely benign 368929 rs367977687 10:90694822-90694822 10:88935065-88935065
29 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+414_-24+415deldeletion Likely benign 301514 rs553556054 10:90750281-90750282 10:88990524-88990525
30 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+357C>TSNV Likely benign 301517 rs9658677 10:90750339-90750339 10:88990582-88990582
31 ACTA2 , FAS NM_001141945.2(ACTA2):c.-24+157C>TSNV Benign/Likely benign 301519 rs2274355 10:90750539-90750539 10:88990782-88990782
32 ACTA2 , FAS NM_000043.6(FAS):c.-34A>GSNV Benign/Likely benign 301520 rs5030766 10:90750600-90750600 10:88990843-88990843
33 ACTA2 NM_001613.4(ACTA2):c.417G>A (p.Gln139=)SNV Benign/Likely benign 301508 rs111265233 10:90701579-90701579 10:88941822-88941822

UniProtKB/Swiss-Prot genetic disease variations for Multisystemic Smooth Muscle Dysfunction Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 ACTA2 p.Arg179His VAR_064516 rs387906592

Expression for Multisystemic Smooth Muscle Dysfunction Syndrome

Search GEO for disease gene expression data for Multisystemic Smooth Muscle Dysfunction Syndrome.

Pathways for Multisystemic Smooth Muscle Dysfunction Syndrome

Pathways related to Multisystemic Smooth Muscle Dysfunction Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.22 FAS ACTA2

GO Terms for Multisystemic Smooth Muscle Dysfunction Syndrome

Sources for Multisystemic Smooth Muscle Dysfunction Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
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45 MGI
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68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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