MCID: VSC044
MIFTS: 48

Visceral Myopathy

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Visceral Myopathy

MalaCards integrated aliases for Visceral Myopathy:

Name: Visceral Myopathy 54 12 24 71 29 69
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 12 71 52 14
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 50 42 69
Megaduodenum and/or Megacystis 50 56 71
Berdon Syndrome 12 50 71
Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome 50
Visceral Neuropathy, Familial, Autosomal Dominant 69
Pseudoobstruction Idiopathic Intestinal 50
Idiopathic Intestinal Pseudoobstruction 71
Hereditary Hollow Visceral Myopathy 56
Familial Hollow Visceral Myopathy 56
Intestinal Pseudo-Obstruction 69
Infantile Visceral Myopathy 71
Visceral Myopathy, Familial 69
Visceral Myopathy Familial 50
Familial Visceral Myopathy 56
Mmih Syndrome 50
Mmihs 50
Mmih 71
Vscm 71

Characteristics:

Orphanet epidemiological data:

56
familial visceral myopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

54
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:

32
visceral myopathy:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Visceral Myopathy

NIH Rare Diseases : 50 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 visceral myopathy, familial, with external ophthalmoplegia and intestinal pseudoobstruction, neuronal, and has symptoms including umbilical hernia, microcephaly and micrognathia. 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 EPHA forward signaling. The drug carnitine has been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, colon and heart.

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.

OMIM : 54
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)

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

Related Diseases for Visceral Myopathy

Diseases related to Visceral Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
id Related Disease Score Top Affiliating Genes
1 visceral myopathy, familial, with external ophthalmoplegia 12.0
2 intestinal pseudoobstruction, neuronal 11.8
3 moved to 155310 11.4
4 intestinal pseudo-obstruction 11.2
5 hydrocephalus due to aqueductal stenosis 11.1
6 actg2-related disorders 10.8
7 myopathy 10.4
8 thrombosis 9.6
9 portal vein thrombosis 9.6
10 superior mesenteric artery syndrome 9.6
11 appendicitis 9.6
12 chronic intestinal pseudoobstruction 9.6
13 ogilvie syndrome 9.6
14 sakati syndrome 9.6
15 actg2 9.6
16 hidrocystoma 9.6 ACTG2 MYH11
17 lung agenesis 9.0 ACTG2 LMOD1 MYH11

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:

54

Abdomen- Gastroin testinal:
diarrhea
vomiting
constipation
decreased motility (in all patients)
recurrent abdominal pain
more
Genitourinary- Kidneys:
hydronephrosis

Abdomen- Pancreas:
pancreatitis (rare)

Genitourinary- Internal Genitalia Female:
inert uterus (rare)

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios
anhydramnios

Genitourinary- Ureters:
vesicoureteral reflux

Genitourinary- Internal Genitalia Male:
undescended testicle (rare)

Genitourinary- Bladder:
urinary retention
megacystis


Clinical features from OMIM:

155310

Human phenotypes related to Visceral Myopathy:

56 32 (show all 41)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
2 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
3 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
4 round face 56 32 occasional (7.5%) Occasional (29-5%) HP:0000311
5 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
6 anteverted nares 56 32 occasional (7.5%) Occasional (29-5%) HP:0000463
7 narrow chest 56 32 occasional (7.5%) Occasional (29-5%) HP:0000774
8 broad forehead 56 32 occasional (7.5%) Occasional (29-5%) HP:0000337
9 vesicoureteral reflux 56 32 hallmark (90%) Very frequent (99-80%) HP:0000076
10 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
11 low-set, posteriorly rotated ears 56 32 occasional (7.5%) Occasional (29-5%) HP:0000368
12 hyperparathyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000843
13 arachnodactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001166
14 hydroureter 56 32 frequent (33%) Very frequent (99-80%) HP:0000072
15 megacystis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000021
16 abdominal distention 56 32 hallmark (90%) Frequent (79-30%) HP:0003270
17 prominent nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000426
18 anonychia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001798
19 aganglionic megacolon 56 32 occasional (7.5%) Occasional (29-5%) HP:0002251
20 aplasia/hypoplasia of the abdominal wall musculature 56 32 frequent (33%) Frequent (79-30%) HP:0010318
21 camptodactyly of finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0100490
22 abdominal situs inversus 56 32 occasional (7.5%) Occasional (29-5%) HP:0003363
23 dysphagia 32 HP:0002015
24 diarrhea 32 HP:0002014
25 polyhydramnios 32 frequent (33%) HP:0001561
26 vomiting 32 HP:0002013
27 hydronephrosis 32 HP:0000126
28 cryptorchidism 32 occasional (7.5%) HP:0000028
29 pancreatitis 32 occasional (7.5%) HP:0001733
30 omphalocele 32 occasional (7.5%) HP:0001539
31 constipation 32 HP:0002019
32 intestinal malrotation 32 frequent (33%) HP:0002566
33 malnutrition 32 HP:0004395
34 microcolon 32 hallmark (90%) HP:0004388
35 sepsis 32 occasional (7.5%) HP:0100806
36 nausea and vomiting 32 hallmark (90%) HP:0002017
37 malformation of the heart and great vessels 56 Occasional (29-5%)
38 multicystic kidney dysplasia 32 frequent (33%) HP:0000003
39 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
40 neoplasm of the heart 32 occasional (7.5%) HP:0100544
41 hypoperistalsis 32 hallmark (90%) HP:0100771

UMLS symptoms related to Visceral Myopathy:


constipation, diarrhea, vomiting, recurrent abdominal pain

Drugs & Therapeutics for Visceral Myopathy

Drugs for Visceral Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 carnitine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295 Parenteral L-carnitine supplementation;Parenteral supplementation with sterile water
2 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:

id Genetic test Affiliating Genes
1 Visceral Myopathy 29 24

Anatomical Context for Visceral Myopathy

MalaCards organs/tissues related to Visceral Myopathy:

39
Smooth Muscle, Colon, Heart, Kidney, Small Intestine, Uterus

Publications for Visceral Myopathy

Articles related to Visceral Myopathy:

(show all 37)
id Title Authors Year
1
Acute large bowel pseudo-obstruction due to atrophic visceral myopathy: A case report. ( 28285209 )
2017
2
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. ( 27481187 )
2016
3
Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature. ( 27410460 )
2016
4
Two Cases of Chronic Intestinal Pseudo-obstruction: A Comparison of Staining Characteristics of Enteric Visceral Myopathy With Hirschsprung Disease. ( 26808129 )
2016
5
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. ( 25782675 )
2015
6
Portal vein thrombosis in a patient with hollow visceral myopathy. ( 24621635 )
2014
7
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. ( 24777424 )
2014
8
Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy. ( 23816694 )
2013
9
Visceral myopathy presenting as acute appendicitis and ogilvie syndrome. ( 23738185 )
2013
10
An adult case of midgut volvulus in familial visceral myopathy. ( 22827765 )
2012
11
Segregation of a missense variant in enteric smooth muscle actin I^-2 with autosomal dominant familial visceral myopathy. ( 22960657 )
2012
12
Acute abdomen and perforated bowel with a rare pathology: nonfamilial visceral myopathy. ( 22606588 )
2011
13
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. ( 20152369 )
2010
14
Type I familial visceral myopathy presenting with CT findings of superior mesenteric artery syndrome in an adolescent. ( 20032629 )
2009
15
Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle. ( 19098683 )
2009
16
A case of chronic intestinal pseudo-obstruction secondary to primary visceral myopathy. ( 18779848 )
2008
17
Congenital visceral myopathy with a predominantly hypertrophic pattern treated by multivisceral transplantation. ( 18329691 )
2008
18
Chronic primary intestinal pseudo-obstruction from visceral myopathy. ( 16792457 )
2006
19
Chronic intestinal pseudo-obstruction in a cat caused by visceral myopathy. ( 15715058 )
2005
20
Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities. ( 14638363 )
2003
21
Hollow visceral myopathy in a 5-year old boy: a case report. ( 12705491 )
2003
22
Non-familial visceral myopathy: clinical and pathologic features of degenerative leiomyopathy. ( 11793055 )
2002
23
Familial visceral myopathy with carcinoma of unknown primary. ( 11848624 )
2002
24
A very rare cause of intestinal pseudoobstruction: familial visceral myopathy type IV. ( 10914974 )
2000
25
Four cases with chronic intestinal pseudo-obstruction due to hollow visceral myopathy. ( 10228819 )
1999
26
A first report of familial visceral myopathy with additional chylous ascites in two siblings. ( 9051881 )
1997
27
Familial visceral myopathy associated with a mitochondrial myopathy. ( 8432486 )
1993
28
Familial visceral myopathy. A family with involvement of four generations. ( 1735371 )
1992
29
Familial visceral myopathy: a family with at least six involved members. ( 2806997 )
1989
30
Chronic intestinal pseudo-obstruction in two patients. Overlap of features of systemic sclerosis and visceral myopathy. ( 3397047 )
1988
31
Familial visceral myopathy. Evidence of diffuse involvement of intestinal smooth muscle. ( 3674282 )
1987
32
A familial visceral myopathy with dilatation of the entire gastrointestinal tract. ( 3940913 )
1986
33
Familial visceral myopathy: the role of surgery. ( 4014560 )
1985
34
Familial visceral myopathy. ( 6546771 )
1984
35
A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission. ( 6687359 )
1983
36
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy. ( 6834228 )
1983
37
Pathologic features of familial visceral myopathy. ( 6896696 )
1982

Variations for Visceral Myopathy

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

71 (show all 12)
id 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 16)
id 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 ACTG2 NM_001615.3(ACTG2): c.613G> A (p.Ala205Thr) single nucleotide variant Pathogenic rs1057516046 GRCh37 Chromosome 2, 74140773: 74140773

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:

id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.96 ACTG2 ALB
2 myosin filament GO:0032982 8.62 ACTG2 MYH11

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.8 ACTG2 LMOD1 MYH11

Sources for Visceral Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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