MCID: MLT073
MIFTS: 33

Multisystemic Smooth Muscle Dysfunction Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Gastrointestinal 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 pulmonary arterial hypertension and patent ductus arteriosus

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.

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 all 40)
# Related Disease Score Top Affiliating Genes
1 mydriasis, congenital 11.9
2 cycloplegia 11.3
3 cataract 9.9
4 horner's syndrome 9.9
5 anisocoria 9.8
6 strabismus 9.8
7 microcolon 9.8
8 ptosis 9.8
9 miller fisher syndrome 9.8
10 esotropia 9.8
11 prune belly syndrome 9.7
12 cardiac arrhythmia 9.7
13 marfan syndrome 9.7
14 visceral myopathy 9.7
15 gillespie syndrome 9.7
16 galactorrhea 9.7
17 glaucoma-related pigment dispersion syndrome 9.7
18 diabetes mellitus 9.7
19 isolated ectopia lentis 9.7
20 migraine with aura 9.7
21 hypohidrosis 9.7
22 respiratory failure 9.7
23 acute contagious conjunctivitis 9.7
24 primary angle-closure glaucoma 9.7
25 neuritis 9.7
26 ocular hypotension 9.7
27 hyperthyroidism 9.7
28 neuronitis 9.7
29 herpes zoster 9.7
30 exophthalmos 9.7
31 senile cataract 9.7
32 hemorrhoid 9.7
33 herpes zoster ophthalmicus 9.7
34 neurosyphilis 9.7
35 sunct headache 9.7
36 paresthesia 9.7
37 serotonin syndrome 9.7
38 moyamoya disease 5 9.6 ACTA2 ACTA2-AS1
39 aortic aneurysm, familial thoracic 6 9.5 ACTA2 ACTA2-AS1
40 autoimmune lymphoproliferative syndrome 8.9 ACTA2 FAS

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

GenitourinaryInternal GenitaliaMale:
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 11)
# Description HPO Frequency HPO Source Accession
1 pulmonary arterial hypertension 32 HP:0002092
2 patent ductus arteriosus 32 HP:0001643
3 cryptorchidism 32 HP:0000028
4 intestinal malrotation 32 HP:0002566
5 tachypnea 32 HP:0002789
6 mydriasis 32 HP:0011499
7 thoracic aortic aneurysm 32 HP:0012727
8 periventricular white matter hyperdensities 32 HP:0030891
9 hyperperistalsis 32 HP:0100770
10 dilatation of the cerebral artery 32 HP:0004944
11 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 44)
# 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.420G> A (p.Ala140=) single nucleotide variant Conflicting interpretations of pathogenicity rs762567614 GRCh38 Chromosome 10, 88941819: 88941819
4 ACTA2 NM_001613.2(ACTA2): c.420G> A (p.Ala140=) single nucleotide variant Conflicting interpretations of pathogenicity rs762567614 GRCh37 Chromosome 10, 90701576: 90701576
5 ACTA2 NM_001613.2(ACTA2): c.*43A> G single nucleotide variant Uncertain significance rs886047452 GRCh38 Chromosome 10, 88935180: 88935180
6 ACTA2 NM_001613.2(ACTA2): c.*43A> G single nucleotide variant Uncertain significance rs886047452 GRCh37 Chromosome 10, 90694937: 90694937
7 ACTA2 NM_001613.2(ACTA2): c.417G> A (p.Gln139=) single nucleotide variant Benign/Likely benign rs111265233 GRCh38 Chromosome 10, 88941822: 88941822
8 ACTA2 NM_001613.2(ACTA2): c.417G> A (p.Gln139=) single nucleotide variant Benign/Likely benign rs111265233 GRCh37 Chromosome 10, 90701579: 90701579
9 ACTA2 NM_001613.2(ACTA2): c.13G> C (p.Glu5Gln) single nucleotide variant Uncertain significance rs886047453 GRCh38 Chromosome 10, 88948918: 88948918
10 ACTA2 NM_001613.2(ACTA2): c.13G> C (p.Glu5Gln) single nucleotide variant Uncertain significance rs886047453 GRCh37 Chromosome 10, 90708675: 90708675
11 ACTA2 NM_001613.2(ACTA2): c.-115A> G single nucleotide variant Uncertain significance rs886047455 GRCh38 Chromosome 10, 88952822: 88952822
12 ACTA2 NM_001613.2(ACTA2): c.-115A> G single nucleotide variant Uncertain significance rs886047455 GRCh37 Chromosome 10, 90712579: 90712579
13 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+409G> A single nucleotide variant Likely benign rs56220100 GRCh38 Chromosome 10, 88990530: 88990530
14 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+409G> A single nucleotide variant Likely benign rs56220100 GRCh37 Chromosome 10, 90750287: 90750287
15 ACTA2; FAS NG_009089.2: g.5252G> A single nucleotide variant Benign/Likely benign rs2274355 GRCh37 Chromosome 10, 90750539: 90750539
16 ACTA2; FAS NG_009089.2: g.5252G> A single nucleotide variant Benign/Likely benign rs2274355 GRCh38 Chromosome 10, 88990782: 88990782
17 ACTA2; FAS NG_009089.2: g.5313A> G single nucleotide variant Benign/Likely benign rs5030766 GRCh37 Chromosome 10, 90750600: 90750600
18 ACTA2; FAS NG_009089.2: g.5313A> G single nucleotide variant Benign/Likely benign rs5030766 GRCh38 Chromosome 10, 88990843: 88990843
19 ACTA2; FAS NG_009089.2: g.5337C> A single nucleotide variant Uncertain significance rs200181814 GRCh37 Chromosome 10, 90750624: 90750624
20 ACTA2; FAS NG_009089.2: g.5337C> A single nucleotide variant Uncertain significance rs200181814 GRCh38 Chromosome 10, 88990867: 88990867
21 ACTA2 NM_001613.2(ACTA2): c.*122T> C single nucleotide variant Uncertain significance rs886047451 GRCh38 Chromosome 10, 88935101: 88935101
22 ACTA2 NM_001613.2(ACTA2): c.*122T> C single nucleotide variant Uncertain significance rs886047451 GRCh37 Chromosome 10, 90694858: 90694858
23 ACTA2 NM_001613.2(ACTA2): c.808+14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774120023 GRCh37 Chromosome 10, 90699250: 90699250
24 ACTA2 NM_001613.2(ACTA2): c.808+14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs774120023 GRCh38 Chromosome 10, 88939493: 88939493
25 ACTA2 NM_001613.2(ACTA2): c.390T> C (p.Asn130=) single nucleotide variant Conflicting interpretations of pathogenicity rs141933412 GRCh38 Chromosome 10, 88941849: 88941849
26 ACTA2 NM_001613.2(ACTA2): c.390T> C (p.Asn130=) single nucleotide variant Conflicting interpretations of pathogenicity rs141933412 GRCh37 Chromosome 10, 90701606: 90701606
27 ACTA2; FAS NG_009089.2: g.5052G> A single nucleotide variant Likely benign rs9658677 GRCh37 Chromosome 10, 90750339: 90750339
28 ACTA2; FAS NG_009089.2: g.5052G> A single nucleotide variant Likely benign rs9658677 GRCh38 Chromosome 10, 88990582: 88990582
29 ACTA2 NM_001613.2(ACTA2): c.*105G> T single nucleotide variant Uncertain significance rs149059995 GRCh38 Chromosome 10, 88935118: 88935118
30 ACTA2 NM_001613.2(ACTA2): c.*105G> T single nucleotide variant Uncertain significance rs149059995 GRCh37 Chromosome 10, 90694875: 90694875
31 ACTA2 NM_001613.2(ACTA2): c.*28A> T single nucleotide variant Uncertain significance rs143005546 GRCh38 Chromosome 10, 88935195: 88935195
32 ACTA2 NM_001613.2(ACTA2): c.*28A> T single nucleotide variant Uncertain significance rs143005546 GRCh37 Chromosome 10, 90694952: 90694952
33 ACTA2 NM_001613.2(ACTA2): c.-56C> T single nucleotide variant Uncertain significance rs886047454 GRCh38 Chromosome 10, 88952763: 88952763
34 ACTA2 NM_001613.2(ACTA2): c.-56C> T single nucleotide variant Uncertain significance rs886047454 GRCh37 Chromosome 10, 90712520: 90712520
35 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+414_-24+415delGG deletion Likely benign rs553556054 GRCh38 Chromosome 10, 88990524: 88990525
36 ACTA2; FAS NM_001141945.2(ACTA2): c.-24+414_-24+415delGG deletion Likely benign rs553556054 GRCh37 Chromosome 10, 90750281: 90750282
37 ACTA2; FAS NG_009089.2: g.5010G> A single nucleotide variant Uncertain significance rs886047456 GRCh38 Chromosome 10, 88990540: 88990540
38 ACTA2; FAS NG_009089.2: g.5010G> A single nucleotide variant Uncertain significance rs886047456 GRCh37 Chromosome 10, 90750297: 90750297
39 ACTA2; FAS NG_009089.2: g.5173G> A single nucleotide variant Uncertain significance rs886047457 GRCh37 Chromosome 10, 90750460: 90750460
40 ACTA2; FAS NG_009089.2: g.5173G> A single nucleotide variant Uncertain significance rs886047457 GRCh38 Chromosome 10, 88990703: 88990703
41 ACTA2 NM_001613.2(ACTA2): c.369+7A> G single nucleotide variant Uncertain significance rs760471677 GRCh38 Chromosome 10, 88943790: 88943790
42 ACTA2 NM_001613.2(ACTA2): c.369+7A> G single nucleotide variant Uncertain significance rs760471677 GRCh37 Chromosome 10, 90703547: 90703547
43 ACTA2 NM_001141945.2(ACTA2): c.*158G> A single nucleotide variant Likely benign rs367977687 GRCh38 Chromosome 10, 88935065: 88935065
44 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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