VSCM
MCID: VSC044
MIFTS: 52

Visceral Myopathy (VSCM)

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

Aliases & Classifications for Visceral Myopathy

MalaCards integrated aliases for Visceral Myopathy:

Name: Visceral Myopathy 58 12 76 30 6 74
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 58 12 25 26 60 76 56 15
Berdon Syndrome 58 12 77 25 54 26 60 76
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 12 77 54 38 45 74
Megaduodenum and/or Megacystis 58 54 76 41
Mmihs 54 26 60
Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome 54 60
Infantile Visceral Myopathy 58 76
Mmih Syndrome 54 26
Vscm 58 76
Mmih 58 76
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome; Mmih 58
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih 12
Visceral Neuropathy, Familial, Autosomal Dominant 74
Megacystis, Microcolon, Hypoperistalsis Syndrome 26
Pseudoobstruction, Idiopathic Intestinal 58
Pseudoobstruction Idiopathic Intestinal 54
Idiopathic Intestinal Pseudoobstruction 76
Intestinal Pseudo-Obstruction 74
Visceral Myopathy Familial 54
Mmhs 25

Characteristics:

Orphanet epidemiological data:

60
megacystis-microcolon-intestinal hypoperistalsis syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
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:

33
visceral myopathy:
Clinical modifier death in infancy
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Visceral Myopathy

NIH Rare Diseases : 54 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.

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 constipation, vomiting and diarrhea. An important gene associated with Visceral Myopathy is ACTG2 (Actin Gamma 2, Smooth Muscle), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling_RalA regulation pathway. Affiliated tissues include smooth muscle, colon and kidney, and related phenotypes are nausea and vomiting and microcolon

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

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome),... more...

GeneReviews: NBK540960

Related Diseases for Visceral Myopathy

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 intestinal pseudo-obstruction 32.8 ACTG2 MYH11
2 microcolon 29.4 ACTG2 CHRNA3 LMOD1 MYLK
3 visceral myopathy, familial, with external ophthalmoplegia 12.5
4 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 12.2
5 visceral neuropathy, familial, autosomal dominant 11.4
6 mitochondrial dna depletion syndrome 8a 11.2
7 actg2-related disorders 11.1
8 intestinal obstruction 10.8
9 myopathy 10.7
10 prune belly syndrome 10.7
11 autosomal recessive disease 10.7
12 hypertriglyceridemia, familial 10.5
13 colitis 10.5
14 diversion colitis 10.5
15 megaesophagus 10.5
16 chromosomal triplication 10.5
17 encephalopathy 10.5
18 muscle disorders 10.5
19 chronic intestinal pseudoobstruction 10.3
20 aortic aneurysm, familial thoracic 6 10.1 MYH11 MYLK
21 loeys-dietz syndrome 3 10.1 MYH11 MYLK
22 scleroderma, familial progressive 10.0
23 loeys-dietz syndrome 10.0 MYH11 MYLK
24 hypoganglionosis 10.0
25 acrocephalopolysyndactyly type iii 9.8
26 hirschsprung disease 1 9.8
27 ascites, chylous 9.8
28 hypoparathyroidism-retardation-dysmorphism syndrome 9.8
29 bile duct cysts 9.8
30 anorexia nervosa 9.8
31 mungan syndrome 9.8
32 barrett esophagus 9.8
33 thrombosis 9.8
34 portal vein thrombosis 9.8
35 hypertrophic pyloric stenosis 9.8
36 pyloric stenosis 9.8
37 superior mesenteric artery syndrome 9.8
38 mitochondrial myopathy 9.8
39 appendicitis 9.8
40 intestinal volvulus 9.8
41 ogilvie syndrome 9.8

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



Diseases related to Visceral Myopathy

Symptoms & Phenotypes for Visceral Myopathy

Human phenotypes related to Visceral Myopathy:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
2 microcolon 60 33 hallmark (90%) Very frequent (99-80%) HP:0004388
3 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
4 megacystis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000021
5 hypoperistalsis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100771
6 multicystic kidney dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000003
7 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
8 intestinal malrotation 60 33 frequent (33%) Frequent (79-30%) HP:0002566
9 hydroureter 60 33 frequent (33%) Frequent (79-30%) HP:0000072
10 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
11 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
12 sepsis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100806
13 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539
14 neoplasm of the heart 60 33 occasional (7.5%) Occasional (29-5%) HP:0100544
15 pancreatitis 33 occasional (7.5%) HP:0001733
16 dysphagia 33 HP:0002015
17 constipation 33 HP:0002019
18 vomiting 33 HP:0002013
19 abdominal pain 33 HP:0002027
20 malformation of the heart and great vessels 60 Occasional (29-5%)
21 death in infancy 60 Occasional (29-5%)
22 aganglionic megacolon 33 HP:0002251
23 vesicoureteral reflux 33 HP:0000076
24 diarrhea 33 HP:0002014
25 hydronephrosis 33 HP:0000126
26 abnormality of the gastrointestinal tract 60 Frequent (79-30%)
27 urinary retention 33 HP:0000016
28 malnutrition 33 HP:0004395
29 intestinal pseudo-obstruction 33 HP:0004389

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
constipation
vomiting
microcolon
diarrhea
malnutrition
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

UMLS symptoms related to Visceral Myopathy:


constipation, vomiting, diarrhea, recurrent abdominal pain

MGI Mouse Phenotypes related to Visceral Myopathy:

47
# 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 30 ACTG2

Anatomical Context for Visceral Myopathy

MalaCards organs/tissues related to Visceral Myopathy:

42
Smooth Muscle, Colon, Kidney, Uterus, Small Intestine

Publications for Visceral Myopathy

Articles related to Visceral Myopathy:

(show top 50) (show all 193)
# Title Authors Year
1
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. ( 30019982 )
2019
2
Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review. ( 30386895 )
2019
3
Tension Pneumoperitoneum: A Rare Presentation Of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 30868801 )
2019
4
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome. ( 31044419 )
2019
5
Oral Pyridostigmine-responsive Visceral Myopathy With ACTG2 Mutations: A Case Series. ( 30334933 )
2019
6
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: An Unusual In Utero Presentation. ( 29027710 )
2018
7
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 29453416 )
2018
8
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report. ( 29608093 )
2018
9
Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome. ( 29744072 )
2018
10
Prenatal diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome by biochemical analysis of fetal urine. ( 29752823 )
2018
11
Urologic Phenotype and Patterns of Care in Patients With Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Presenting to a Major Pediatric Transplantation Center. ( 29752972 )
2018
12
Megacystis microcolon intestinal hypoperistalsis syndrome. ( 31037170 )
2018
13
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 29387497 )
2017
14
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. ( 28292896 )
2017
15
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 28602422 )
2017
16
Placental Fetal Thrombotic Vasculopathy Occurring in Association with Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: A Case Report. ( 28667041 )
2017
17
Misato underlies visceral myopathy in Drosophila. ( 29255146 )
2017
18
Acute large bowel pseudo-obstruction due to atrophic visceral myopathy: A case report. ( 28285209 )
2017
19
Two Cases of Chronic Intestinal Pseudo-obstruction: A Comparison of Staining Characteristics of Enteric Visceral Myopathy With Hirschsprung Disease. ( 26808129 )
2016
20
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature. ( 26645214 )
2016
21
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 26647307 )
2016
22
Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients. ( 27007401 )
2016
23
Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management. ( 27421821 )
2016
24
Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature. ( 27410460 )
2016
25
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. ( 27481187 )
2016
26
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 25407000 )
2015
27
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). ( 25998219 )
2015
28
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A Rarity. ( 26023535 )
2015
29
Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan. ( 26413901 )
2015
30
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Report of a Rare Case in Newborn. ( 26545999 )
2015
31
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. ( 25782675 )
2015
32
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. ( 24777424 )
2014
33
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. ( 24337657 )
2014
34
Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. ( 24577413 )
2014
35
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 24676022 )
2014
36
Portal vein thrombosis in a patient with hollow visceral myopathy. ( 24621635 )
2014
37
Visceral myopathy presenting as acute appendicitis and ogilvie syndrome. ( 23738185 )
2013
38
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review. ( 22749573 )
2013
39
Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 22926452 )
2013
40
Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report. ( 23167913 )
2013
41
Fetal megacystis as a prenatal challenge: megacystis-microcolon-intestinal hypoperistalsis syndrome in a male fetus. ( 23243015 )
2013
42
Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome. ( 23636104 )
2013
43
Megacystis microcolon intestinal hypoperistalsis syndrome. ( 23729700 )
2013
44
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. ( 23955298 )
2013
45
[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. ( 23440659 )
2013
46
Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy. ( 23816694 )
2013
47
An unusual urinary tract presentation in a case of megacystis microcolon intestinal hypoperistalsis syndrome. ( 23372862 )
2012
48
Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with prune belly syndrome: a case report. ( 26023385 )
2012
49
An adult case of midgut volvulus in familial visceral myopathy. ( 22827765 )
2012
50
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. ( 22960657 )
2012

Variations for Visceral Myopathy

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

76 (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 44)
# 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.442C> A (p.Arg148Ser) single nucleotide variant Pathogenic rs587777383 GRCh38 Chromosome 2, 73909130: 73909130
3 ACTG2 NM_001615.3(ACTG2): c.533G> T (p.Arg178Leu) single nucleotide variant Pathogenic rs587777384 GRCh37 Chromosome 2, 74140693: 74140693
4 ACTG2 NM_001615.3(ACTG2): c.533G> T (p.Arg178Leu) single nucleotide variant Pathogenic rs587777384 GRCh38 Chromosome 2, 73913566: 73913566
5 ACTG2 NM_001615.3(ACTG2): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587777385 GRCh37 Chromosome 2, 74128556: 74128556
6 ACTG2 NM_001615.3(ACTG2): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587777385 GRCh38 Chromosome 2, 73901429: 73901429
7 ACTG2 NM_001615.3(ACTG2): c.532C> T (p.Arg178Cys) single nucleotide variant Pathogenic rs78001248 GRCh37 Chromosome 2, 74140692: 74140692
8 ACTG2 NM_001615.3(ACTG2): c.532C> T (p.Arg178Cys) single nucleotide variant Pathogenic rs78001248 GRCh38 Chromosome 2, 73913565: 73913565
9 ACTG2 NM_001615.3(ACTG2): c.533G> A (p.Arg178His) single nucleotide variant Pathogenic rs587777384 GRCh37 Chromosome 2, 74140693: 74140693
10 ACTG2 NM_001615.3(ACTG2): c.533G> A (p.Arg178His) single nucleotide variant Pathogenic rs587777384 GRCh38 Chromosome 2, 73913566: 73913566
11 ACTG2 NM_001615.3(ACTG2): c.119G> A (p.Arg40His) single nucleotide variant Conflicting interpretations of pathogenicity rs587777386 GRCh37 Chromosome 2, 74128557: 74128557
12 ACTG2 NM_001615.3(ACTG2): c.119G> A (p.Arg40His) single nucleotide variant Conflicting interpretations of pathogenicity rs587777386 GRCh38 Chromosome 2, 73901430: 73901430
13 ACTG2 NM_001615.3(ACTG2): c.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs587777387 GRCh37 Chromosome 2, 74141962: 74141962
14 ACTG2 NM_001615.3(ACTG2): c.769C> T (p.Arg257Cys) single nucleotide variant Pathogenic rs587777387 GRCh38 Chromosome 2, 73914835: 73914835
15 ACTG2 NM_001615.3(ACTG2): c.400T> A (p.Tyr134Asn) single nucleotide variant Pathogenic rs587777388 GRCh37 Chromosome 2, 74136215: 74136215
16 ACTG2 NM_001615.3(ACTG2): c.400T> A (p.Tyr134Asn) single nucleotide variant Pathogenic rs587777388 GRCh38 Chromosome 2, 73909088: 73909088
17 MYH11 NM_022844.2(MYH11): c.3598A> T (p.Lys1200Ter) single nucleotide variant Likely pathogenic rs786205435 GRCh38 Chromosome 16, 15732617: 15732617
18 MYH11 NM_022844.2(MYH11): c.3598A> T (p.Lys1200Ter) single nucleotide variant Likely pathogenic rs786205435 GRCh37 Chromosome 16, 15826474: 15826474
19 ACTG2 NM_001615.3(ACTG2): c.806_807delGCinsAA (p.Gly269Glu) indel Pathogenic rs587777870 GRCh38 Chromosome 2, 73916584: 73916585
20 ACTG2 NM_001615.3(ACTG2): c.806_807delGCinsAA (p.Gly269Glu) indel Pathogenic rs587777870 GRCh37 Chromosome 2, 74143711: 74143712
21 ACTG2 NM_001615.3(ACTG2): c.443G> T (p.Arg148Leu) single nucleotide variant Likely pathogenic rs730880256 GRCh38 Chromosome 2, 73909131: 73909131
22 ACTG2 NM_001615.3(ACTG2): c.443G> T (p.Arg148Leu) single nucleotide variant Likely pathogenic rs730880256 GRCh37 Chromosome 2, 74136258: 74136258
23 ACTG2 NM_001615.3(ACTG2): c.134T> C (p.Met45Thr) single nucleotide variant Pathogenic rs864309490 GRCh37 Chromosome 2, 74129494: 74129494
24 ACTG2 NM_001615.3(ACTG2): c.134T> C (p.Met45Thr) single nucleotide variant Pathogenic rs864309490 GRCh38 Chromosome 2, 73902367: 73902367
25 ACTG2 NM_001615.3(ACTG2): c.187C> G (p.Arg63Gly) single nucleotide variant Pathogenic rs864309491 GRCh37 Chromosome 2, 74129547: 74129547
26 ACTG2 NM_001615.3(ACTG2): c.187C> G (p.Arg63Gly) single nucleotide variant Pathogenic rs864309491 GRCh38 Chromosome 2, 73902420: 73902420
27 ACTG2 NM_001615.3(ACTG2): c.255+210C> A single nucleotide variant Pathogenic rs768290597 GRCh37 Chromosome 2, 74129825: 74129825
28 ACTG2 NM_001615.3(ACTG2): c.255+210C> A single nucleotide variant Pathogenic rs768290597 GRCh38 Chromosome 2, 73902698: 73902698
29 ACTG2 NM_001615.3(ACTG2): c.593G> A (p.Gly198Asp) single nucleotide variant Pathogenic rs864309492 GRCh37 Chromosome 2, 74140753: 74140753
30 ACTG2 NM_001615.3(ACTG2): c.593G> A (p.Gly198Asp) single nucleotide variant Pathogenic rs864309492 GRCh38 Chromosome 2, 73913626: 73913626
31 LMOD1 NM_012134.2(LMOD1): c.1108C> T (p.Arg370Ter) single nucleotide variant Pathogenic rs777696417 GRCh37 Chromosome 1, 201869033: 201869033
32 LMOD1 NM_012134.2(LMOD1): c.1108C> T (p.Arg370Ter) single nucleotide variant Pathogenic rs777696417 GRCh38 Chromosome 1, 201899905: 201899905
33 MYLK NM_053025.3(MYLK): c.3838_3844dupGAAAGCG (p.Glu1282Glyfs) duplication Pathogenic rs1553787823 GRCh38 Chromosome 3, 123664246: 123664252
34 MYLK NM_053025.3(MYLK): c.3838_3844dupGAAAGCG (p.Glu1282Glyfs) duplication Pathogenic rs1553787823 GRCh37 Chromosome 3, 123383093: 123383099
35 ACTG2 NM_001615.3(ACTG2): c.613G> A (p.Ala205Thr) single nucleotide variant Pathogenic rs1057516046 GRCh37 Chromosome 2, 74140773: 74140773
36 ACTG2 NM_001615.3(ACTG2): c.613G> A (p.Ala205Thr) single nucleotide variant Pathogenic rs1057516046 GRCh38 Chromosome 2, 73913646: 73913646
37 MYLK NM_053027.3(MYLK): c.3985+5G> T single nucleotide variant Pathogenic rs1553787619 GRCh37 Chromosome 3, 123382947: 123382947
38 MYLK NM_053027.3(MYLK): c.3985+5G> T single nucleotide variant Pathogenic rs1553787619 GRCh38 Chromosome 3, 123664100: 123664100
39 DLGAP4-AS1; MYL9 NC_000020.11: g.36548744_36555707del deletion Likely pathogenic GRCh38 Chromosome 20, 36548744: 36555707
40 DLGAP4-AS1; MYL9 NC_000020.11: g.36548744_36555707del deletion Likely pathogenic GRCh37 Chromosome 20, 35177147: 35184110
41 ACTG2 NM_001615.3(ACTG2): c.67G> A (p.Ala23Thr) single nucleotide variant Uncertain significance rs1553394796 GRCh37 Chromosome 2, 74128505: 74128505
42 ACTG2 NM_001615.3(ACTG2): c.67G> A (p.Ala23Thr) single nucleotide variant Uncertain significance rs1553394796 GRCh38 Chromosome 2, 73901378: 73901378
43 ACTG2 NM_001615.3(ACTG2): c.632G> A (p.Arg211Gln) single nucleotide variant Likely pathogenic rs1553396458 GRCh37 Chromosome 2, 74141825: 74141825
44 ACTG2 NM_001615.3(ACTG2): c.632G> A (p.Arg211Gln) single nucleotide variant Likely pathogenic rs1553396458 GRCh38 Chromosome 2, 73914698: 73914698

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 cytoplasm GO:0005737 9.61 ACTG2 ALB KCNIP4 LMOD1 MSTO1 MYLK
2 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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