MSMDS
MCID: MLT073
MIFTS: 44

Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS)

Categories: Cardiovascular diseases, Gastrointestinal diseases, Genetic 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 57 20 58 72 29 13 6 39 70
Msmds 57 72
Mydriasis, Congenital, with Patent Ductus Arteriosus, Thoracic Aortic Aneurysm, and Vasculopathy 57
Mydriasis Congenital with Patent Ductus Arteriosus Thoracic Aortic Aneurysm and Vasculopathy 72
Congenital Mydriasis, Patent Ductus Arteriosus, Thoracic Aortic Aneurysm, and Vasculopathy 20
Mydriasis 44

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Multisystemic Smooth Muscle Dysfunction Syndrome, also known as msmds, is related to aortic aneurysm, familial thoracic 6 and moyamoya disease 1. An important gene associated with Multisystemic Smooth Muscle Dysfunction Syndrome is ACTA2 (Actin Alpha 2, Smooth Muscle), and among its related pathways/superpathways is DREAM Repression and Dynorphin Expression. The drugs Cyclopentolate and Atropine have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, eye and brain, and related phenotypes are hypertension and cryptorchidism

GARD : 20 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 : 72 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 : 73 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 165)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 6 29.7 ACTA2-AS1 ACTA2
2 moyamoya disease 1 29.6 ACTA2-AS1 ACTA2
3 moyamoya disease 5 29.4 ACTA2-AS1 ACTA2
4 cycloplegia 11.0
5 mydriasis, congenital 11.0
6 spinal atrophy ophthalmoplegia pyramidal syndrome 10.9
7 cataract 10.5
8 patent ductus arteriosus 1 10.4
9 anisocoria 10.4
10 intraocular pressure quantitative trait locus 10.4
11 kearns-sayre syndrome 10.3
12 ptosis 10.3
13 migraine with or without aura 1 10.3
14 cerebrovascular disease 10.3
15 microvascular complications of diabetes 5 10.3
16 ataxia and polyneuropathy, adult-onset 10.2
17 horner's syndrome 10.2
18 keratoconus 10.2
19 exudative vitreoretinopathy 1 10.2
20 miller fisher syndrome 10.2
21 aniridia 1 10.1
22 pulmonary hypertension 10.1
23 aphasia 10.1
24 lung disease 10.1
25 heritable thoracic aortic disease 10.1
26 aortopulmonary window 10.1
27 ocular motor apraxia 10.1
28 yemenite deaf-blind hypopigmentation syndrome 10.1
29 acute closed-angle glaucoma 10.1
30 eye disease 10.1
31 refractive error 10.1
32 headache 10.1
33 microcolon 10.0
34 monocular esotropia 10.0
35 myopia 10.0
36 primary angle-closure glaucoma 10.0
37 esotropia 10.0
38 traumatic brain injury 10.0
39 retinal detachment 10.0
40 strabismus 10.0
41 megacystis-microcolon-intestinal hypoperistalsis syndrome 10.0
42 ifap syndrome 2 10.0
43 guillain-barre syndrome 10.0
44 mechanical strabismus 10.0
45 exophthalmos 10.0
46 senile cataract 10.0
47 brain injury 10.0
48 seizure disorder 10.0
49 motion sickness 9.9
50 gillespie syndrome 9.9

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 hypertension 31 HP:0000822
2 cryptorchidism 31 HP:0000028
3 patent ductus arteriosus 31 HP:0001643
4 intestinal malrotation 31 HP:0002566
5 pulmonary arterial hypertension 31 HP:0002092
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 83)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclopentolate Approved Phase 4 512-15-2 2905
2
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
3
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
8
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
9
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
10
Ephedrine Approved Phase 4 299-42-3 9294
11
Phenylephrine Approved Phase 4 59-42-7 6041
12
Pseudoephedrine Approved Phase 4 90-82-4 7028
13
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
14
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
15
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
16 Cholinergic Antagonists Phase 4
17 Muscarinic Antagonists Phase 4
18 Cholinergic Agents Phase 4
19 Anti-Inflammatory Agents Phase 4
20 Anti-Arrhythmia Agents Phase 4
21 Parasympatholytics Phase 4
22 Gastrointestinal Agents Phase 4
23 Neuroprotective Agents Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Methylprednisolone Acetate Phase 4
26 glucocorticoids Phase 4
27 Hormone Antagonists Phase 4
28 Antiemetics Phase 4
29 Hormones Phase 4
30 Antirheumatic Agents Phase 4
31 Cyclooxygenase Inhibitors Phase 4
32 Antineoplastic Agents, Hormonal Phase 4
33 Ketorolac Tromethamine Phase 4
34 Anti-Inflammatory Agents, Non-Steroidal Phase 4
35 Neurotransmitter Agents Phase 4
36 Cardiotonic Agents Phase 4
37 Adrenergic Agonists Phase 4
38 Vasoconstrictor Agents Phase 4
39 Adrenergic alpha-Agonists Phase 4
40 Respiratory System Agents Phase 4
41 Mydriatics Phase 4
42 Sympathomimetics Phase 4
43 Adrenergic Agents Phase 4
44 Protective Agents Phase 4
45 Nasal Decongestants Phase 4
46 Adrenergic alpha-Antagonists Phase 4
47
Phentolamine Approved Phase 3 50-60-2 5775
48
Tropicamide Approved, Investigational Phase 3 1508-75-4 5593
49 Adrenergic Antagonists Phase 3
50 Pharmaceutical Solutions Phase 3

Interventional clinical trials:

(show all 36)
# 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 Combined Subconjunctival Atropine and Intracameral Epinephrine Injection for Pupil Dilation in Phacoemulsification Under Peribulbar Anesthesia. Unknown status NCT03638726 Phase 4 Atropine sulfate and epinephrine;Topical cyclopentolate and phenylephrine
3 2.5% and 10% Phenylephrine for Mydriasis in Diabetic Patients With Darkly Pigmented Irides Completed NCT00501878 Phase 4 2.5% or 10% phenylephrine
4 Efficacy and Safety of Mydriatic Microdrops Compared With Standard Drops for Retinopathy of Prematurity (ROP) Screening: a Pilot Randomized Clinical Trial Completed NCT04623684 Phase 4 Microdrop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 6-7 μL)];Standard drop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 28-34 μL)]
5 Comparison of Conventional Instillation and Lower Conjunctival Fornix Packing in Mydriasis for Premature Infants Completed NCT00877175 Phase 4 1% tropicamide and 2.5% phenylephrine
6 Exploration of Pupil Dilation in Horner's Patients Taking Flomax Terminated NCT03615508 Phase 4 10% phenylephrine
7 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).
8 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
9 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
10 Randomized, Parallel Arm, Double-Masked, Placebo-Controlled Study of the Safety and Efficacy of Nyxol (0.75% Phentolamine Ophthalmic Solution) to Reverse Pharmacologically-Induced Mydriasis in Healthy Subjects Completed NCT04620213 Phase 3 Phentolamine Ophthalmic Solution 0.75%
11 Single Dose of 1% Tropicamide and 10% Phenylephrine for Pupillary Dilation Completed NCT00120432 Phase 3 1% tropicamide and 10% phenylephrine
12 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
13 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%
14 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
15 Enhanced Pupil Dilation in Patients Taking Alpha-Blockers for Potential Treatment of Intraoperative Floppy Iris Syndrome Recruiting NCT03760185 Phase 2 Brimonidine Tartrate
16 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
17 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
18 Evaluation of the FIM - a Non Invasive Device for Temporarily and Quick Pupil Dilation (Mydriasis) Unknown status NCT01946828
19 Methods to Manage Intra-operative Floppy-iris Syndrome and Poor Pupil Dilation in Cataract Surgery: an Exploratory Study Unknown status NCT01778959
20 "Eye Protection After Mydriatic Use for ROP Screening: Impact on Vitals Signs and Pain Scores" Completed NCT01860534
21 Toric Trifocal IOL Treatment With High Astigmatism and Hyperopia vs SMILE Enhancement After Trifocal IOL Treatment With High Astigmatism and Hyperopia Completed NCT04468022
22 Brain Integrity in Survivors of Hodgkin Lymphoma (HL) Treated With Thoracic Radiation Completed NCT01820117
23 A Randomized Controlled Trial to Determine the Lowest Effective Dose for Adequate Mydriasis in Premature Infants Completed NCT01054027 1% phenylephrine and 0.2% cyclopentolate
24 Efficiency and Safety of Lidocaine Usage for Pupil Dilatation (Mydriasis) During Cataract Surgery Completed NCT01170130 Lidocaine 1% (sterile)
25 Preoperative Cataract Pupillary Dilation: Inpatient vs Outpatient Completed NCT01169688
26 Pain Assessment by Pupil Dilation Reflex (PDR) and Pupillary Pain Index (PPI) in Response to Noxious Stimulation in Anesthetized Adults Completed NCT03140241
27 Study of Intracameral Adrenaline for Pupil Dilation Without Topical Mydriatics in Refractive Cataract Surgery Completed NCT01264653 adrenalin
28 Pupillary Dilation Reflex (PDR) Evaluation During General Anesthesia: a Pilot Study Completed NCT02942316
29 Do Pupil Dilation and Analgesia Nociception Index Reflect Pain: a Pilot Study in Healthy, Conscious Volunteers Completed NCT03280238
30 Evaluation of a Preoperative Pharmacological Protocol for Mydriasis in Femtosecond Laser-assisted Cataract Surgery Recruiting NCT03375996 cyclopentolate 0.5% eye drops
31 Evaluation of the Pupil Dilation Reflex (PDR) Using a Pupillary Pain Index (PPI) Stimulation Protocol in Response to Noxious Stimulation in Anaesthetized Children. A Proof of Concept Trial Recruiting NCT03449732
32 Pupillary Dilation Reflex Assessment for Intraoperative Analgesic Titration [PUP-AIT]. A Double Blinded Randomized Trial. Recruiting NCT03248908
33 Stimulation Anda Validation of the Pupillary Dilation for the Detection of Pain in Analgosedated Patients Under Mechanically in Intensive Care Unit Recruiting NCT04078113
34 Responsiveness to Noxious Stimuli in Ventilated Intensive Care Unit (ICU) Patients With Propofol / Remifentanil Sedation Protocol by Using the Nociception Flexion Reflex (RIII Reflex) and the Pupillary Dilatation Reflex. Recruiting NCT02916004
35 A Comparison of Intracameral Phenylephrine 2% and Tropicamide 0.2% With Topical Phenylephrine 2.5% and Tropicamide 1% for Pupillary Dilation During Cataract Surgery on Patients With and Without Pseudoexfoliation Syndrome. Terminated NCT00690222
36 Optimal Method for Mydriasis in Cataract Surgery Terminated NCT02909140 Topical phenylephrine 2.5%;Topical cyclopentolate 1%;Intracameral Lidocaine 1%;Intracameral 0.2- 0.3ml of epinephrine 1:10,000

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, Endothelial, Skin

Publications for Multisystemic Smooth Muscle Dysfunction Syndrome

Articles related to Multisystemic Smooth Muscle Dysfunction Syndrome:

(show all 30)
# Title Authors PMID Year
1
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. 57 6
29300374 2018
2
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 57 6
24998021 2014
3
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 57 6
20734336 2010
4
Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: new syndromic spectrum? 57 6
15472996 2004
5
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? 6 57
14730227 2004
6
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. 6 57
10532176 1999
7
Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 6
22752479 2013
8
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 6
22946110 2012
9
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 6
22831780 2012
10
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 6
22302747 2012
11
Analysis of ACTA2 in European Moyamoya disease patients. 6
20970362 2011
12
Refractory cerebral infarction in a child with an ACTA2 mutation. 61
33342581 2021
13
Aneurysmal Dilatation of Ductus Arteriosus and Pulmonary Artery in Association With ACTA2 Mutation. 61
32452246 2020
14
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
15
Efficacy and safety of galcanezumab for preventive treatment of migraine: a systematic review and meta-analysis. 61
32006159 2020
16
Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature. 61
31911919 2019
17
The genetic architecture of aniridia and Gillespie syndrome. 61
30242502 2019
18
Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes. 61
29575632 2018
19
ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke. 61
30300893 2018
20
ACTA2 mutation and postpartum hemorrhage: a case report. 61
29202781 2017
21
Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome. 61
27549731 2017
22
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
23
[Multisystemic smooth muscle dysfunction syndrome in children: a case report and literature review]. 61
28822439 2017
24
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
25
Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings. 61
27567161 2017
26
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. 61
27481187 2016
27
Large Pupils in Infancy. . .Suspected Aniridia. Multisystemic smooth muscle dysfunction syndrome secondary to an ACTA2 mutation. 61
26835993 2016
28
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 61
24621862 2014
29
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. 61
22790431 2012
30
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 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTA2 ACTA2, ARG179LEU Variation Pathogenic 986791 GRCh37:
GRCh38:
2 ACTA2 ACTA2, ARG179CYS Variation Pathogenic 986792 GRCh37:
GRCh38:
3 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His) SNV Pathogenic 29598 rs387906592 GRCh37: 10:90701066-90701066
GRCh38: 10:88941309-88941309
4 ACTA2 NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) SNV Pathogenic 265026 rs886039303 GRCh37: 10:90701067-90701067
GRCh38: 10:88941310-88941310
5 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His) SNV Pathogenic 29598 rs387906592 GRCh37: 10:90701066-90701066
GRCh38: 10:88941309-88941309
6 ACTA2 NM_001613.4(ACTA2):c.535C>A (p.Arg179Ser) SNV Pathogenic 911956 GRCh37: 10:90701067-90701067
GRCh38: 10:88941310-88941310
7 ACTA2 NM_001613.4(ACTA2):c.258+5G>T SNV Uncertain significance 879456 GRCh37: 10:90707010-90707010
GRCh38: 10:88947253-88947253
8 FAS , ACTA2 NM_000043.6(FAS):c.-10C>A SNV Uncertain significance 301521 rs200181814 GRCh37: 10:90750624-90750624
GRCh38: 10:88990867-88990867
9 FAS , ACTA2 NM_001141945.2(ACTA2):c.-24+399C>T SNV Uncertain significance 301516 rs886047456 GRCh37: 10:90750297-90750297
GRCh38: 10:88990540-88990540
10 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.936C>T (p.Ala312=) SNV Uncertain significance 263863 rs200213764 GRCh37: 10:90697872-90697872
GRCh38: 10:88938115-88938115
11 FAS , ACTA2 NM_001141945.2(ACTA2):c.-24+236C>T SNV Uncertain significance 301518 rs886047457 GRCh37: 10:90750460-90750460
GRCh38: 10:88990703-88990703
12 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.808+14G>A SNV Uncertain significance 301507 rs774120023 GRCh37: 10:90699250-90699250
GRCh38: 10:88939493-88939493
13 ACTA2 NM_001613.4(ACTA2):c.-56C>T SNV Uncertain significance 301512 rs886047454 GRCh37: 10:90712520-90712520
GRCh38: 10:88952763-88952763
14 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.*104C>G SNV Uncertain significance 877831 GRCh37: 10:90694876-90694876
GRCh38: 10:88935119-88935119
15 ACTA2 NM_001141945.2(ACTA2):c.-23-3850C>G SNV Uncertain significance 877878 GRCh37: 10:90712560-90712560
GRCh38: 10:88952803-88952803
16 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.645G>A (p.Lys215=) SNV Uncertain significance 877990 GRCh37: 10:90699427-90699427
GRCh38: 10:88939670-88939670
17 ACTA2 NM_001613.4(ACTA2):c.456C>T (p.Gly152=) SNV Uncertain significance 877991 GRCh37: 10:90701146-90701146
GRCh38: 10:88941389-88941389
18 ACTA2 NM_001613.4(ACTA2):c.24T>G (p.Thr8=) SNV Uncertain significance 879816 GRCh37: 10:90708664-90708664
GRCh38: 10:88948907-88948907
19 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.*43A>G SNV Uncertain significance 301505 rs886047452 GRCh37: 10:90694937-90694937
GRCh38: 10:88935180-88935180
20 ACTA2 NM_001613.4(ACTA2):c.13G>C (p.Glu5Gln) SNV Uncertain significance 301511 rs886047453 GRCh37: 10:90708675-90708675
GRCh38: 10:88948918-88948918
21 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.*28A>T SNV Uncertain significance 301506 rs143005546 GRCh37: 10:90694952-90694952
GRCh38: 10:88935195-88935195
22 ACTA2 NM_001141945.2(ACTA2):c.-23-3869A>G SNV Uncertain significance 301513 rs886047455 GRCh37: 10:90712579-90712579
GRCh38: 10:88952822-88952822
23 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.*122T>C SNV Uncertain significance 301503 rs886047451 GRCh37: 10:90694858-90694858
GRCh38: 10:88935101-88935101
24 ACTA2 NM_001613.4(ACTA2):c.369+7A>G SNV Uncertain significance 301510 rs760471677 GRCh37: 10:90703547-90703547
GRCh38: 10:88943790-88943790
25 ACTA2 , ACTA2-AS1 NR_125373.1(ACTA2-AS1):n.690C>T SNV Likely benign 368929 rs367977687 GRCh37: 10:90694822-90694822
GRCh38: 10:88935065-88935065
26 ACTA2 NM_001613.4(ACTA2):c.417G>A (p.Gln139=) SNV Likely benign 301508 rs111265233 GRCh37: 10:90701579-90701579
GRCh38: 10:88941822-88941822
27 ACTA2 NM_001613.4(ACTA2):c.390T>C (p.Asn130=) SNV Likely benign 301509 rs141933412 GRCh37: 10:90701606-90701606
GRCh38: 10:88941849-88941849
28 ACTA2 NM_001613.4(ACTA2):c.174C>T (p.Asp58=) SNV Likely benign 386329 rs150547139 GRCh37: 10:90707099-90707099
GRCh38: 10:88947342-88947342
29 FAS , ACTA2 NM_001141945.2(ACTA2):c.-24+357C>T SNV Likely benign 301517 rs9658677 GRCh37: 10:90750339-90750339
GRCh38: 10:88990582-88990582
30 FAS , ACTA2 NM_001141945.2(ACTA2):c.-24+157C>T SNV Likely benign 301519 rs2274355 GRCh37: 10:90750539-90750539
GRCh38: 10:88990782-88990782
31 FAS , ACTA2 NM_000043.6(FAS):c.-34A>G SNV Likely benign 301520 rs5030766 GRCh37: 10:90750600-90750600
GRCh38: 10:88990843-88990843
32 FAS , ACTA2 NM_001141945.2(ACTA2):c.-24+414_-24+415del Deletion Likely benign 301514 rs553556054 GRCh37: 10:90750281-90750282
GRCh38: 10:88990524-88990525
33 FAS , ACTA2 NM_001141945.2(ACTA2):c.-24+409G>A SNV Likely benign 301515 rs56220100 GRCh37: 10:90750287-90750287
GRCh38: 10:88990530-88990530
34 ACTA2 NM_001613.4(ACTA2):c.201G>C (p.Leu67=) SNV Likely benign 136278 rs199773697 GRCh37: 10:90707072-90707072
GRCh38: 10:88947315-88947315
35 ACTA2 NM_001141945.2(ACTA2):c.-23-3831T>C SNV Benign 877877 GRCh37: 10:90712541-90712541
GRCh38: 10:88952784-88952784
36 ACTA2-AS1 , ACTA2 NM_001613.4(ACTA2):c.*105G>T SNV Benign 301504 rs149059995 GRCh37: 10:90694875-90694875
GRCh38: 10:88935118-88935118
37 ACTA2 NM_001613.4(ACTA2):c.420G>A (p.Ala140=) SNV Benign 264091 rs762567614 GRCh37: 10:90701576-90701576
GRCh38: 10:88941819-88941819

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

72
# 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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