MSMDYS
MCID: MLT073
MIFTS: 34

Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDYS)

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 57 53 59 75 29 13 6 40 73
Mydriasis, Congenital, with Patent Ductus Arteriosus, Thoracic Aortic Aneurysm, and Vasculopathy 57
Mydriasis Congenital with Patent Ductus Arteriosus Thoracic Aortic Aneurysm and Vasculopathy 75
Congenital Mydriasis, Patent Ductus Arteriosus, Thoracic Aortic Aneurysm, and Vasculopathy 53
Mydriasis 44
Msmdys 75

Characteristics:

Orphanet epidemiological data:

59
multisystemic smooth muscle dysfunction syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
all de novo mutations
seven patients reported (as of march 2011)


HPO:

32
multisystemic smooth muscle dysfunction syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Multisystemic Smooth Muscle Dysfunction Syndrome

NIH Rare Diseases : 53 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 certainĀ  mutation in the ACTA2 gene has been shown to cause this condition inĀ some individuals.

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 mydriasis, congenital and cycloplegia. An important gene associated with Multisystemic Smooth Muscle Dysfunction Syndrome is ACTA2 (Actin, Alpha 2, Smooth Muscle, Aorta), and among its related pathways/superpathways is TNFR1 Pathway. Affiliated tissues include smooth muscle, lung and brain, and related phenotypes are hypertension and pulmonary arterial hypertension

UniProtKB/Swiss-Prot : 75 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 : 76 Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disorder caused by R179 missense... more...

Description from OMIM: 613834

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 52)
# Related Disease Score Top Affiliating Genes
1 mydriasis, congenital 12.1
2 cycloplegia 11.4
3 spinal atrophy ophthalmoplegia pyramidal syndrome 11.1
4 cataract 10.2
5 ptosis 10.2
6 horner's syndrome 10.2
7 heart disease 10.2
8 acute closed-angle glaucoma 10.1
9 miller fisher syndrome 10.1
10 anisocoria 10.0
11 strabismus 10.0
12 temporal arteritis 10.0
13 microcolon 10.0
14 esotropia 10.0
15 moyamoya disease 5 9.9 ACTA2 ACTA2-AS1
16 aortic aneurysm, familial thoracic 6 9.8 ACTA2 ACTA2-AS1
17 prune belly syndrome 9.8
18 cardiac arrhythmia 9.8
19 exudative vitreoretinopathy 1 9.8
20 marfan syndrome 9.8
21 visceral myopathy 9.8
22 gillespie syndrome 9.8
23 cystic disease of lung 9.8
24 galactorrhea 9.8
25 glaucoma-related pigment dispersion syndrome 9.8
26 patent ductus arteriosus 1 9.8
27 microvascular complications of diabetes 5 9.8
28 diabetes mellitus 9.8
29 isolated ectopia lentis 9.8
30 migraine with aura 9.8
31 monocular esotropia 9.8
32 hypohidrosis 9.8
33 respiratory failure 9.8
34 acute contagious conjunctivitis 9.8
35 tolosa-hunt syndrome 9.8
36 primary angle-closure glaucoma 9.8
37 neuritis 9.8
38 blepharospasm 9.8
39 cerebrovascular disease 9.8
40 ocular hypotension 9.8
41 hyperthyroidism 9.8
42 lung disease 9.8
43 herpes zoster 9.8
44 exophthalmos 9.8
45 senile cataract 9.8
46 arachnoid cysts 9.8
47 herpes zoster ophthalmicus 9.8
48 neurosyphilis 9.8
49 sunct headache 9.8
50 paresthesia 9.8

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
patent ductus arteriosus
thoracic aortic aneurysm
pulmonary hypertension
small vessel retinal infarcts and aneurysms
dilated pulmonary arteries
more
Respiratory:
tachypnea

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

Genitourinary Bladder:
hypotonic bladder

Genitourinary Internal Genitalia Male:
cryptorchidism

Abdomen Gastrointestinal:
malrotation
hyperperistalsis

Respiratory Lung:
lung disease, non-specific

Neurologic Central Nervous System:
periventricular white matter hyperintensities, bilateral


Clinical features from OMIM:

613834

Human phenotypes related to Multisystemic Smooth Muscle Dysfunction Syndrome:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 pulmonary arterial hypertension 32 HP:0002092
3 patent ductus arteriosus 32 HP:0001643
4 cryptorchidism 32 HP:0000028
5 intestinal malrotation 32 HP:0002566
6 tachypnea 32 HP:0002789
7 mydriasis 32 HP:0011499
8 thoracic aortic aneurysm 32 HP:0012727
9 periventricular white matter hyperdensities 32 HP:0030891
10 hyperperistalsis 32 HP:0100770
11 dilatation of the cerebral artery 32 HP:0004944
12 retinal infarction 32 HP:0007866

Drugs & Therapeutics for Multisystemic Smooth Muscle Dysfunction Syndrome

Search Clinical Trials , 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:

41
Smooth Muscle, Lung, Brain, Heart, Eye

Publications for Multisystemic Smooth Muscle Dysfunction Syndrome

Articles related to Multisystemic Smooth Muscle Dysfunction Syndrome:

# Title Authors Year
1
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. ( 28816420 )
2017
2
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. ( 28328125 )
2017
3
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. ( 24621862 )
2014
4
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. ( 22790431 )
2012

Variations for Multisystemic Smooth Muscle Dysfunction Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 ACTA2 p.Arg179His VAR_064516 rs387906592

ClinVar genetic disease variations for Multisystemic Smooth Muscle Dysfunction Syndrome:

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh37 Chromosome 10, 90701066: 90701066
2 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh38 Chromosome 10, 88941309: 88941309
3 ACTA2 NM_001613.2(ACTA2): c.201G> C (p.Leu67=) single nucleotide variant Conflicting interpretations of pathogenicity rs199773697 GRCh37 Chromosome 10, 90707072: 90707072
4 ACTA2 NM_001613.2(ACTA2): c.201G> C (p.Leu67=) single nucleotide variant Conflicting interpretations of pathogenicity rs199773697 GRCh38 Chromosome 10, 88947315: 88947315
5 ACTA2 NM_001613.2(ACTA2): c.420G> A (p.Ala140=) single nucleotide variant Conflicting interpretations of pathogenicity rs762567614 GRCh38 Chromosome 10, 88941819: 88941819
6 ACTA2 NM_001613.2(ACTA2): c.420G> A (p.Ala140=) single nucleotide variant Conflicting interpretations of pathogenicity rs762567614 GRCh37 Chromosome 10, 90701576: 90701576
7 ACTA2 NM_001613.2(ACTA2): c.*43A> G single nucleotide variant Uncertain significance rs886047452 GRCh38 Chromosome 10, 88935180: 88935180
8 ACTA2 NM_001613.2(ACTA2): c.*43A> G single nucleotide variant Uncertain significance rs886047452 GRCh37 Chromosome 10, 90694937: 90694937
9 ACTA2 NM_001613.2(ACTA2): c.417G> A (p.Gln139=) single nucleotide variant Benign/Likely benign rs111265233 GRCh38 Chromosome 10, 88941822: 88941822
10 ACTA2 NM_001613.2(ACTA2): c.417G> A (p.Gln139=) single nucleotide variant Benign/Likely benign rs111265233 GRCh37 Chromosome 10, 90701579: 90701579
11 ACTA2 NM_001613.2(ACTA2): c.13G> C (p.Glu5Gln) single nucleotide variant Uncertain significance rs886047453 GRCh38 Chromosome 10, 88948918: 88948918
12 ACTA2 NM_001613.2(ACTA2): c.13G> C (p.Glu5Gln) single nucleotide variant Uncertain significance rs886047453 GRCh37 Chromosome 10, 90708675: 90708675
13 ACTA2 NM_001613.2(ACTA2): c.-115A> G single nucleotide variant Uncertain significance rs886047455 GRCh38 Chromosome 10, 88952822: 88952822
14 ACTA2 NM_001613.2(ACTA2): c.-115A> G single nucleotide variant Uncertain significance rs886047455 GRCh37 Chromosome 10, 90712579: 90712579
15 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+409G> A single nucleotide variant Likely benign rs56220100 GRCh38 Chromosome 10, 88990530: 88990530
16 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+409G> A single nucleotide variant Likely benign rs56220100 GRCh37 Chromosome 10, 90750287: 90750287
17 ACTA2; FAS NG_009089.2: g.5252G> A single nucleotide variant Benign/Likely benign rs2274355 GRCh37 Chromosome 10, 90750539: 90750539
18 ACTA2; FAS NG_009089.2: g.5252G> A single nucleotide variant Benign/Likely benign rs2274355 GRCh38 Chromosome 10, 88990782: 88990782
19 ACTA2; FAS NG_009089.2: g.5313A> G single nucleotide variant Benign/Likely benign rs5030766 GRCh37 Chromosome 10, 90750600: 90750600
20 ACTA2; FAS NG_009089.2: g.5313A> G single nucleotide variant Benign/Likely benign rs5030766 GRCh38 Chromosome 10, 88990843: 88990843
21 ACTA2; FAS NG_009089.2: g.5337C> A single nucleotide variant Uncertain significance rs200181814 GRCh37 Chromosome 10, 90750624: 90750624
22 ACTA2; FAS NG_009089.2: g.5337C> A single nucleotide variant Uncertain significance rs200181814 GRCh38 Chromosome 10, 88990867: 88990867
23 ACTA2 NM_001613.2(ACTA2): c.*122T> C single nucleotide variant Uncertain significance rs886047451 GRCh38 Chromosome 10, 88935101: 88935101
24 ACTA2 NM_001613.2(ACTA2): c.*122T> C single nucleotide variant Uncertain significance rs886047451 GRCh37 Chromosome 10, 90694858: 90694858
25 ACTA2 NM_001613.2(ACTA2): c.808+14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774120023 GRCh38 Chromosome 10, 88939493: 88939493
26 ACTA2 NM_001613.2(ACTA2): c.808+14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774120023 GRCh37 Chromosome 10, 90699250: 90699250
27 ACTA2 NM_001613.3(ACTA2): c.390T> C (p.Asn130=) single nucleotide variant Conflicting interpretations of pathogenicity rs141933412 GRCh38 Chromosome 10, 88941849: 88941849
28 ACTA2 NM_001613.3(ACTA2): c.390T> C (p.Asn130=) single nucleotide variant Conflicting interpretations of pathogenicity rs141933412 GRCh37 Chromosome 10, 90701606: 90701606
29 ACTA2; FAS NG_009089.2: g.5052G> A single nucleotide variant Likely benign rs9658677 GRCh37 Chromosome 10, 90750339: 90750339
30 ACTA2; FAS NG_009089.2: g.5052G> A single nucleotide variant Likely benign rs9658677 GRCh38 Chromosome 10, 88990582: 88990582
31 ACTA2 NM_001613.2(ACTA2): c.*105G> T single nucleotide variant Uncertain significance rs149059995 GRCh38 Chromosome 10, 88935118: 88935118
32 ACTA2 NM_001613.2(ACTA2): c.*105G> T single nucleotide variant Uncertain significance rs149059995 GRCh37 Chromosome 10, 90694875: 90694875
33 ACTA2 NM_001613.2(ACTA2): c.*28A> T single nucleotide variant Uncertain significance rs143005546 GRCh38 Chromosome 10, 88935195: 88935195
34 ACTA2 NM_001613.2(ACTA2): c.*28A> T single nucleotide variant Uncertain significance rs143005546 GRCh37 Chromosome 10, 90694952: 90694952
35 ACTA2 NM_001613.2(ACTA2): c.-56C> T single nucleotide variant Uncertain significance rs886047454 GRCh38 Chromosome 10, 88952763: 88952763
36 ACTA2 NM_001613.2(ACTA2): c.-56C> T single nucleotide variant Uncertain significance rs886047454 GRCh37 Chromosome 10, 90712520: 90712520
37 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+414_-24+415delGG deletion Likely benign rs553556054 GRCh38 Chromosome 10, 88990524: 88990525
38 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+414_-24+415delGG deletion Likely benign rs553556054 GRCh37 Chromosome 10, 90750281: 90750282
39 ACTA2; FAS NG_009089.2: g.5010G> A single nucleotide variant Uncertain significance rs886047456 GRCh38 Chromosome 10, 88990540: 88990540
40 ACTA2; FAS NG_009089.2: g.5010G> A single nucleotide variant Uncertain significance rs886047456 GRCh37 Chromosome 10, 90750297: 90750297
41 ACTA2; FAS NG_009089.2: g.5173G> A single nucleotide variant Uncertain significance rs886047457 GRCh37 Chromosome 10, 90750460: 90750460
42 ACTA2; FAS NG_009089.2: g.5173G> A single nucleotide variant Uncertain significance rs886047457 GRCh38 Chromosome 10, 88990703: 88990703
43 ACTA2 NM_001613.2(ACTA2): c.369+7A> G single nucleotide variant Uncertain significance rs760471677 GRCh38 Chromosome 10, 88943790: 88943790
44 ACTA2 NM_001613.2(ACTA2): c.369+7A> G single nucleotide variant Uncertain significance rs760471677 GRCh37 Chromosome 10, 90703547: 90703547
45 ACTA2 NM_001141945.2(ACTA2): c.*158G> A single nucleotide variant Likely benign rs367977687 GRCh38 Chromosome 10, 88935065: 88935065
46 ACTA2 NM_001141945.2(ACTA2): c.*158G> A single nucleotide variant Likely benign rs367977687 GRCh37 Chromosome 10, 90694822: 90694822

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

GO Terms for Multisystemic Smooth Muscle Dysfunction Syndrome

Sources for Multisystemic Smooth Muscle Dysfunction Syndrome

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