MCID: VSC044
MIFTS: 52

Visceral Myopathy

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

Aliases & Classifications for Visceral Myopathy

MalaCards integrated aliases for Visceral Myopathy:

Name: Visceral Myopathy 53 12 71 28 69
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 53 12 24 55 71 51 14
Berdon Syndrome 53 12 72 49 24 55 71
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 72 49 36 41 69
Megaduodenum and/or Megacystis 53 49 71
Mmihs 49 24 55
Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome 49 55
Infantile Visceral Myopathy 53 71
Mmih Syndrome 49 24
Vscm 53 71
Mmih 53 71
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome; Mmih 53
Visceral Neuropathy, Familial, Autosomal Dominant 69
Megacystis, Microcolon, Hypoperistalsis Syndrome 24
Pseudoobstruction, Idiopathic Intestinal 53
Pseudoobstruction Idiopathic Intestinal 49
Idiopathic Intestinal Pseudoobstruction 71
Intestinal Pseudo-Obstruction 69
Visceral Myopathy Familial 49

Characteristics:

Orphanet epidemiological data:

55
megacystis-microcolon-intestinal hypoperistalsis syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in some patients)
marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals
malnutrition can be severe, requiring total parenteral nutrition


HPO:

31
visceral myopathy:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Visceral Myopathy

NIH Rare Diseases : 49 Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition characterized by abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis); very small colon (microcolon); and decreased or absent intestinal movements (intestinal peristalsis). Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium (the first bowel movement the baby has). Other intestinal anomalies may be present like intestinal malrotation. Many problems with the urinary tract result from the bladder dysfunction. It is part of a group of conditions caused by changes (mutations) in the ACTG2 gene and is inherited in an autosomal dominant manner. However medical scientists believe that many cases of MMIHS are caused by de novo mutations in the ACTG2 gene (meaning the mutation in the gene happened by mistake during the making of the sperm or egg). There is currently no cure for MMIHS and treatment is supportive. In the majority of patients total parenteral nutrition is required. Last updated: 10/20/2016

MalaCards based summary : Visceral Myopathy, also known as megacystis-microcolon-intestinal hypoperistalsis syndrome, is related to intestinal pseudo-obstruction and microcolon, and has symptoms including nausea and vomiting, umbilical hernia and cryptorchidism. An important gene associated with Visceral Myopathy is ACTG2 (Actin, Gamma 2, Smooth Muscle, Enteric), and among its related pathways/superpathways are Cardiac conduction and Smooth Muscle Contraction. Affiliated tissues include smooth muscle, colon and heart, and related phenotypes are digestive/alimentary and muscle

Disease Ontology : 12 A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.

Genetics Home Reference : 24 Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disorder affecting the muscles that line the bladder and intestines. It is characterized by impairment of the muscle contractions that move food through the digestive tract (peristalsis) and empty the bladder.

OMIM : 53 Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014). Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (277320). Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (100100) and Barrett esophagus (Mungan syndrome; 611376). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see 609629). (155310)

UniProtKB/Swiss-Prot : 71 Visceral myopathy: A rare inherited form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization.

Wikipedia : 72 Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome),... more...

Related Diseases for Visceral Myopathy

Graphical network of the top 20 diseases related to Visceral Myopathy:



Diseases related to Visceral Myopathy

Symptoms & Phenotypes for Visceral Myopathy

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
constipation
vomiting
diarrhea
recurrent abdominal pain
microcolon
more
Prenatal Manifestations Amniotic Fluid:
polyhydramnios
anhydramnios

Genitourinary Bladder:
urinary retention
megacystis

Abdomen Pancreas:
pancreatitis (rare)

Genitourinary Internal Genitalia Female:
inert uterus (rare)

Genitourinary Ureters:
vesicoureteral reflux

Genitourinary Kidneys:
hydronephrosis

Abdomen External Features:
absent abdominal wall musculature (rare)

Genitourinary Internal Genitalia Male:
undescended testicle (rare)


Clinical features from OMIM:

155310

Human phenotypes related to Visceral Myopathy:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
3 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
4 microcolon 55 31 hallmark (90%) Very frequent (99-80%) HP:0004388
5 multicystic kidney dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000003
6 polyhydramnios 55 31 frequent (33%) Frequent (79-30%) HP:0001561
7 intestinal malrotation 55 31 frequent (33%) Frequent (79-30%) HP:0002566
8 sepsis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100806
9 abdominal distention 55 31 hallmark (90%) Very frequent (99-80%) HP:0003270
10 hydroureter 55 31 frequent (33%) Frequent (79-30%) HP:0000072
11 omphalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0001539
12 megacystis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000021
13 neoplasm of the heart 55 31 occasional (7.5%) Occasional (29-5%) HP:0100544
14 hypoperistalsis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100771
15 constipation 31 HP:0002019
16 vomiting 31 HP:0002013
17 diarrhea 31 HP:0002014
18 dysphagia 31 HP:0002015
19 malformation of the heart and great vessels 55 Occasional (29-5%)
20 death in infancy 55 Occasional (29-5%)
21 pancreatitis 31 occasional (7.5%) HP:0001733
22 aganglionic megacolon 31 HP:0002251
23 vesicoureteral reflux 31 HP:0000076
24 hydronephrosis 31 HP:0000126
25 abnormality of the gastrointestinal tract 55 Frequent (79-30%)
26 intestinal pseudo-obstruction 31 HP:0004389
27 malnutrition 31 HP:0004395

UMLS symptoms related to Visceral Myopathy:


recurrent abdominal pain, vomiting, diarrhea, constipation

MGI Mouse Phenotypes related to Visceral Myopathy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.35 ALB CHRNA3 MYH11 MYLK SMTN
2 muscle MP:0005369 9.02 ALB CHRNA3 MYH11 MYLK SMTN

Drugs & Therapeutics for Visceral Myopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mitochondrial and Microbiota Relationship Recruiting NCT03213067

Search NIH Clinical Center for Visceral Myopathy

Cochrane evidence based reviews: megacystis microcolon intestinal hypoperistalsis syndrome

Genetic Tests for Visceral Myopathy

Genetic tests related to Visceral Myopathy:

# Genetic test Affiliating Genes
1 Visceral Myopathy 28

Anatomical Context for Visceral Myopathy

MalaCards organs/tissues related to Visceral Myopathy:

38
Smooth Muscle, Colon, Heart, Kidney, Small Intestine, Uterus

Publications for Visceral Myopathy

Articles related to Visceral Myopathy:

(show top 50) (show all 155)
# Title Authors Year
1
Placental Fetal Thrombotic Vasculopathy Occurring in Association with Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: A Case Report. ( 28667041 )
2017
2
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: An Unusual In Utero Presentation. ( 29027710 )
2017
3
Misato underlies visceral myopathy in Drosophila. ( 29255146 )
2017
4
Acute large bowel pseudo-obstruction due to atrophic visceral myopathy: A case report. ( 28285209 )
2017
5
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 29387497 )
2017
6
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 28602422 )
2017
7
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. ( 28292896 )
2017
8
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 26647307 )
2016
9
Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management. ( 27421821 )
2016
10
Mutation in Actin I^-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients. ( 27007401 )
2016
11
Two Cases of Chronic Intestinal Pseudo-obstruction: A Comparison of Staining Characteristics of Enteric Visceral Myopathy With Hirschsprung Disease. ( 26808129 )
2016
12
Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature. ( 27410460 )
2016
13
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature. ( 26645214 )
2016
14
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. ( 27481187 )
2016
15
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. ( 25782675 )
2015
16
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Report of a Rare Case in Newborn. ( 26545999 )
2015
17
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding I^-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). ( 25998219 )
2015
18
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A Rarity. ( 26023535 )
2015
19
Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan. ( 26413901 )
2015
20
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 25407000 )
2014
21
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. ( 24777424 )
2014
22
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 24676022 )
2014
23
Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. ( 24577413 )
2014
24
Portal vein thrombosis in a patient with hollow visceral myopathy. ( 24621635 )
2014
25
Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome. ( 23636104 )
2013
26
Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy. ( 23816694 )
2013
27
Megacystis microcolon intestinal hypoperistalsis syndrome. ( 23729700 )
2013
28
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review. ( 22749573 )
2013
29
Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report. ( 23167913 )
2013
30
Visceral myopathy presenting as acute appendicitis and ogilvie syndrome. ( 23738185 )
2013
31
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. ( 23955298 )
2013
32
Fetal megacystis as a prenatal challenge: megacystis-microcolon-intestinal hypoperistalsis syndrome in a male fetus. ( 23243015 )
2013
33
Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 22926452 )
2013
34
An adult case of midgut volvulus in familial visceral myopathy. ( 22827765 )
2012
35
An unusual urinary tract presentation in a case of megacystis microcolon intestinal hypoperistalsis syndrome. ( 23372862 )
2012
36
Segregation of a missense variant in enteric smooth muscle actin I^-2 with autosomal dominant familial visceral myopathy. ( 22960657 )
2012
37
Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. ( 21792650 )
2011
38
Acute abdomen and perforated bowel with a rare pathology: nonfamilial visceral myopathy. ( 22606588 )
2011
39
Megacystis microcolon intestinal hypoperistalsis syndrome complicated by perforation. ( 21478590 )
2011
40
Megacystis, microcolon, intestinal hypoperistalsis syndrome and bilateral streak gonads. ( 21886986 )
2011
41
Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 20028211 )
2010
42
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. ( 20152369 )
2010
43
Effect of the herbal medicine dai-kenchu-to on gastrointestinal motility in patients with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and chronic idiopathic intestinal pseudo-obstruction (CIIP): report of two cases. ( 21318994 )
2009
44
Diversion colitis in a 19-year-old female with megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 19582576 )
2009
45
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report. ( 19794822 )
2009
46
Magnetic resonance imaging for prenatal diagnosis of multisystem disease: megacystis microcolon intestinal hypoperistalsis syndrome. ( 19501881 )
2009
47
Type I familial visceral myopathy presenting with CT findings of superior mesenteric artery syndrome in an adolescent. ( 20032629 )
2009
48
Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle. ( 19098683 )
2009
49
Hypertriglyceridemia and megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 18852646 )
2008
50
Severe uropathy and normal amniotic fluid volume in a male fetus: sonographic surveillance leading to the diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 18577677 )
2008

Variations for Visceral Myopathy

UniProtKB/Swiss-Prot genetic disease variations for Visceral Myopathy:

71 (show all 12)
# Symbol AA change Variation ID SNP ID
1 ACTG2 p.Arg40Cys VAR_071279 rs587777385
2 ACTG2 p.Arg40His VAR_071280 rs587777386
3 ACTG2 p.Met45Thr VAR_071281 rs864309490
4 ACTG2 p.Arg63Gly VAR_071282 rs864309491
5 ACTG2 p.Pro110Leu VAR_071283
6 ACTG2 p.Tyr134Asn VAR_071284 rs587777388
7 ACTG2 p.Arg148Ser VAR_071285 rs587777383
8 ACTG2 p.Arg178Cys VAR_071286 rs78001248
9 ACTG2 p.Arg178His VAR_071287 rs587777384
10 ACTG2 p.Arg178Leu VAR_071288 rs587777384
11 ACTG2 p.Gly198Asp VAR_071289 rs864309492
12 ACTG2 p.Arg257Cys VAR_071290 rs587777387

ClinVar genetic disease variations for Visceral Myopathy:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTG2 NM_001615.3(ACTG2): c.442C> A (p.Arg148Ser) single nucleotide variant Pathogenic rs587777383 GRCh37 Chromosome 2, 74136257: 74136257
2 ACTG2 NM_001615.3(ACTG2): c.533G> T (p.Arg178Leu) single nucleotide variant Pathogenic rs587777384 GRCh37 Chromosome 2, 74140693: 74140693
3 ACTG2 NM_001615.3(ACTG2): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587777385 GRCh37 Chromosome 2, 74128556: 74128556
4 ACTG2 NM_001615.3(ACTG2): c.532C> T (p.Arg178Cys) single nucleotide variant Pathogenic rs78001248 GRCh37 Chromosome 2, 74140692: 74140692
5 ACTG2 NM_001615.3(ACTG2): c.533G> A (p.Arg178His) single nucleotide variant Pathogenic rs587777384 GRCh37 Chromosome 2, 74140693: 74140693
6 ACTG2 NM_001615.3(ACTG2): c.119G> A (p.Arg40His) single nucleotide variant Pathogenic rs587777386 GRCh37 Chromosome 2, 74128557: 74128557
7 ACTG2 NM_001615.3(ACTG2): c.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs587777387 GRCh37 Chromosome 2, 74141962: 74141962
8 ACTG2 NM_001615.3(ACTG2): c.400T> A (p.Tyr134Asn) single nucleotide variant Pathogenic rs587777388 GRCh37 Chromosome 2, 74136215: 74136215
9 MYH11 NM_022844.2(MYH11): c.3598A> T (p.Lys1200Ter) single nucleotide variant Likely pathogenic rs786205435 GRCh38 Chromosome 16, 15732617: 15732617
10 ACTG2 NM_001615.3(ACTG2): c.806_807delGCinsAA (p.Gly269Glu) indel Pathogenic rs587777870 GRCh38 Chromosome 2, 73916584: 73916585
11 ACTG2 NM_001615.3(ACTG2): c.443G> T (p.Arg148Leu) single nucleotide variant Likely pathogenic rs730880256 GRCh38 Chromosome 2, 73909131: 73909131
12 ACTG2 NM_001615.3(ACTG2): c.134T> C (p.Met45Thr) single nucleotide variant Pathogenic rs864309490 GRCh37 Chromosome 2, 74129494: 74129494
13 ACTG2 NM_001615.3(ACTG2): c.187C> G (p.Arg63Gly) single nucleotide variant Pathogenic rs864309491 GRCh37 Chromosome 2, 74129547: 74129547
14 ACTG2 NM_001615.3(ACTG2): c.255+210C> A single nucleotide variant Pathogenic rs768290597 GRCh37 Chromosome 2, 74129825: 74129825
15 ACTG2 NM_001615.3(ACTG2): c.593G> A (p.Gly198Asp) single nucleotide variant Pathogenic rs864309492 GRCh37 Chromosome 2, 74140753: 74140753
16 LMOD1 NM_012134.2(LMOD1): c.1108C> T (p.Arg370Ter) single nucleotide variant Pathogenic rs777696417 GRCh37 Chromosome 1, 201869033: 201869033
17 MYLK NM_053025.3(MYLK): c.3838_3844dupGAAAGCG (p.Glu1282Glyfs) duplication Pathogenic GRCh37 Chromosome 3, 123383093: 123383099
18 ACTG2 NM_001615.3(ACTG2): c.613G> A (p.Ala205Thr) single nucleotide variant Pathogenic rs1057516046 GRCh37 Chromosome 2, 74140773: 74140773
19 MYLK NM_053027.3(MYLK): c.3985+5G> T single nucleotide variant Pathogenic GRCh37 Chromosome 3, 123382947: 123382947

Expression for Visceral Myopathy

Search GEO for disease gene expression data for Visceral Myopathy.

Pathways for Visceral Myopathy

GO Terms for Visceral Myopathy

Cellular components related to Visceral Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin filament GO:0032982 8.62 ACTG2 MYH11

Biological processes related to Visceral Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.26 ACTG2 LMOD1 MYH11 MYLK
2 smooth muscle contraction GO:0006939 8.8 MYH11 MYLK SMTN

Molecular functions related to Visceral Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 8.96 MYH11 SMTN
2 actin binding GO:0003779 8.92 LMOD1 MYH11 MYLK SMTN

Sources for Visceral Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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