VSCM
MCID: VSC044
MIFTS: 51

Visceral Myopathy (VSCM)

Categories: 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 56 73 29 6 71
Megaduodenum and/or Megacystis 56 52 73
Infantile Visceral Myopathy 56 73
Vscm 56 73
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 73
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 71
Visceral Neuropathy, Familial, Autosomal Dominant 71
Pseudoobstruction, Idiopathic Intestinal 56
Pseudoobstruction Idiopathic Intestinal 52
Idiopathic Intestinal Pseudoobstruction 73
Intestinal Pseudo-Obstruction 71
Visceral Myopathy Familial 52
Myopathy, Visceral 39
Berdon Syndrome 73
Mmih 73

Characteristics:

OMIM:

56
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:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Visceral Myopathy

OMIM : 56 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)

MalaCards based summary : Visceral Myopathy, also known as megaduodenum and/or megacystis, is related to prune belly syndrome and megacystis-microcolon-intestinal hypoperistalsis syndrome, and has symptoms including vomiting, constipation and diarrhea. An important gene associated with Visceral Myopathy is ACTG2 (Actin Gamma 2, Smooth Muscle), and among its related pathways/superpathways are Integrin Pathway and PAK Pathway. The drugs Prucalopride and Laxatives have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, small intestine and colon, and related phenotypes are pancreatitis and vomiting

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2604 Definition Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia , and/or urinary tract infections.n. Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Visceral Myopathy

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

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 prune belly syndrome 31.3 MYH11 ACTG2
2 megacystis-microcolon-intestinal hypoperistalsis syndrome 30.8 MYLK MYL9 MYH11 LMOD1 ACTG2
3 myopathy 29.3 MYLK MYL9 MYH11 ALB ACTG2
4 microcolon 28.4 MYLK MYL9 MYH11 LMOD1 ACTG2
5 visceral myopathy, familial, with external ophthalmoplegia 12.6
6 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 12.3
7 intestinal pseudo-obstruction 12.0
8 actg2-related disorders 11.5
9 visceral neuropathy, familial, autosomal dominant 11.5
10 mitochondrial dna depletion syndrome 8a 11.3
11 hydronephrosis 11.1
12 urofacial syndrome 1 10.8
13 polyhydramnios 10.8
14 oligohydramnios 10.8
15 urinary tract obstruction 10.8
16 vesicoureteral reflux 1 10.7
17 hypertriglyceridemia, familial 10.5
18 cryptorchidism, unilateral or bilateral 10.5
19 hypoascorbemia 10.5
20 colitis 10.5
21 diversion colitis 10.5
22 umbilical hernia 10.5
23 omphalocele 10.5
24 bone disease 10.5
25 short bowel syndrome 10.5
26 gastroparesis 10.5
27 megaesophagus 10.5
28 tuberous sclerosis 10.5
29 gastric dilatation 10.5
30 end stage renal disease 10.5
31 neuropathy 10.5
32 hypoglycemia 10.5
33 chromosomal triplication 10.5
34 growth hormone deficiency 10.5
35 horseshoe kidney 10.5
36 hypoganglionosis 10.5
37 posterior urethral valves 10.5
38 encephalopathy 10.5
39 spasticity 10.5
40 atresia of urethra 10.5
41 renal dysplasia 10.5
42 intestinal obstruction 10.3
43 volvulus of midgut 10.2
44 constipation 10.2
45 pneumatosis cystoides intestinalis 10.2
46 peritonitis 10.2
47 scleroderma, familial progressive 10.1
48 branchiootic syndrome 1 10.1
49 esophagitis, eosinophilic, 1 10.1
50 esophagitis 10.1

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 pancreatitis 31 occasional (7.5%) HP:0001733
2 vomiting 31 HP:0002013
3 dysphagia 31 HP:0002015
4 abdominal pain 31 HP:0002027
5 aganglionic megacolon 31 HP:0002251
6 polyhydramnios 31 HP:0001561
7 vesicoureteral reflux 31 HP:0000076
8 hydronephrosis 31 HP:0000126
9 constipation 31 HP:0002019
10 diarrhea 31 HP:0002014
11 abdominal distention 31 HP:0003270
12 urinary retention 31 HP:0000016
13 megacystis 31 HP:0000021
14 intestinal pseudo-obstruction 31 HP:0004389
15 microcolon 31 HP:0004388
16 malnutrition 31 HP:0004395

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
vomiting
constipation
diarrhea
microcolon
malnutrition
more
Genitourinary Ureters:
vesicoureteral reflux

Genitourinary Bladder:
urinary retention
megacystis

Abdomen Pancreas:
pancreatitis (rare)

Genitourinary Internal Genitalia Female:
inert uterus (rare)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
anhydramnios

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:


vomiting, constipation, diarrhea, recurrent abdominal pain

Drugs & Therapeutics for Visceral Myopathy

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prucalopride Approved Phase 3 179474-81-8
2 Laxatives Phase 3
3 Cathartics Phase 3
4 Serotonin Receptor Agonists Phase 3
5
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
6
Rifaximin Approved, Investigational Phase 2 80621-81-4 6436173 46783403
7 Pharmaceutical Solutions Phase 2
8 Anti-Bacterial Agents Phase 2
9 Anti-Infective Agents Phase 2
10
Metronidazole Approved 443-48-1 4173
11
Dopamine Approved 51-61-6, 62-31-7 681
12
Domperidone Approved, Investigational, Vet_approved 57808-66-9 3151
13 Nutrients
14 Gastrointestinal Agents
15 Neurotransmitter Agents
16 Dopamine Antagonists
17 Antiemetics
18 Dopamine Agents

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section: Randomized Controlled Trial Completed NCT01131416 Phase 2, Phase 3
2 Efficacy of Prucalopride in Critically Ill Patients With Paralytic Ileus; a Pilot Randomized Double-blind Controlled Trial Recruiting NCT04190173 Phase 3 Prucalopride;Placebo
3 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer: a Randomized Controlled Trial Withdrawn NCT01389986 Phase 2, Phase 3
4 Effect of Daikenchuto (TJ-100) on Intestinal Dysmotility and For the Prevention of Postoperative Paralytic Ileus in Patients Undergoing Pancreaticoduodenectomy: A Multicenter, Randomized, Placebo-Controlled Phase II Trial Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
5 A Double-Blind, Placebo-Controlled, Cross-Over, Multiple (n=1) Trial to Evaluate the Effects of R093877 in Patients With Chronic Intestinal Pseudo-Obstruction (CIP). Completed NCT00793247 Phase 2 PRU-PLA-PRU-PLA;PLA-PRU-PLA-PRU;PLA-PRU-PRU-PLA;PRU-PLA-PLA-PRU
6 Efficacy and Safety of Rifaximin for Patients With Chronic Intestinal Pseudo-obstruction: a Single Center, Randomized, Placebo Controlled, Double-blind Phase 2 Trial Recruiting NCT04118699 Phase 2 Rifaximin oral tablet;Placebo oral tablet
7 Acupuncture to Prevent Postoperative Paralytic Ileus Terminated NCT00065234 Phase 2
8 Post-Hoc Analysis of Dynamic Magnetic Resonance Sequences to Establish Descriptive Metrics for Small Bowel Motility in Vivo Unknown status NCT02754869
9 Effects of Laser Acupuncture Therapy on Paralytic Ileus Unknown status NCT03041675
10 Efficacy and Safety of Fecal Microbiota Transplantation in Treatment of Chronic Intestinal Pseudo-obstruction: a Preliminary Study Completed NCT02731183
11 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
12 Small Bowel Motor Impairment in Scleroderma: Results of a Prospective 5-year Manometric Follow-up Completed NCT00213460
13 The Effect of Postoperative Chewing Gum on Intestinal Functions After Gynecological Laparoscopic Surgery Completed NCT03884244
14 Phase II Feasibility Study of the Efficacy and Acceptability of a Low Residue Diet in Adult Patients With Mitochondrial Disease Completed NCT03388528
15 SmartPill Monitoring for Assessment of GI Function in SCI Completed NCT00856648
16 Randomized Controlled Trial of Rib Raising as Early Treatment for Post-operative Ileus Recruiting NCT03662672
17 The Rare Disease Clinical Research Network Natural History Study of MNGIE Recruiting NCT01694953
18 A Randomized Controlled Double-blinded of Effectiveness of Prokinetic Agents in Improving Abdominal Discomfort at Pre- and Post- Colonoscopy Active, not recruiting NCT04104867 Itopride;Domperidone
19 A Case-control Study of the Gastrointestinal Response to a Liquid Test Meal in Chronic Intestinal Pseudo-obstruction, Using Magnetic Resonance Imaging Not yet recruiting NCT04193735

Search NIH Clinical Center for Visceral Myopathy

Genetic Tests for Visceral Myopathy

Genetic tests related to Visceral Myopathy:

# Genetic test Affiliating Genes
1 Visceral Myopathy 29 ACTG2

Anatomical Context for Visceral Myopathy

MalaCards organs/tissues related to Visceral Myopathy:

40
Smooth Muscle, Small Intestine, Colon, Uterus, Testes, Salivary Gland, Endothelial

Publications for Visceral Myopathy

Articles related to Visceral Myopathy:

(show top 50) (show all 157)
# Title Authors PMID Year
1
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. 6 56 61
24777424 2014
2
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. 6 61 56
22960657 2012
3
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 6 56
24337657 2014
4
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 56 6
24676022 2014
5
ACTG2-Related Disorders 61 6
26072522 2015
6
Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle. 61 56
19098683 2009
7
Family studies of infantile visceral myopathy: a congenital myopathic pseudo-obstruction syndrome. 61 56
9934973 1999
8
Familial visceral myopathy. A family with involvement of four generations. 56 61
1735371 1992
9
[Hereditary visceral myopathy: an entity in idiopathic intestinal pseudo-obstruction]. 61 56
3755111 1986
10
Familial visceral myopathy. 56 61
6546771 1984
11
Pathologic features of familial visceral myopathy. 56 61
6896696 1982
12
Chronic intestinal pseudo-obstruction. A report of 27 cases and review of the literature. 61 56
6894476 1981
13
A familial visceral myopathy. 61 56
717927 1978
14
Studies of idiopathic intestinal pseudoobstruction. II. Hereditary hollow visceral myopathy: family studies. 56 61
873135 1977
15
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview 6
31070878 2019
16
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 6
28602422 2017
17
Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. 56
11450844 2001
18
Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors. 56
10531434 1999
19
Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor. 56
10318955 1999
20
[Chronic idiopathic intestinal pseudo-obstruction]. 56
2702946 1989
21
Chronic idiopathic intestinal pseudoobstruction. Coexistence of smooth muscle and neuronal abnormalities. 56
3838274 1985
22
Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of the literature. 56
6708241 1984
23
The familial syndromes of intestinal pseudoobstruction. 56
6894822 1981
24
A familial neuronal disease presenting as intestinal pseudoobstruction. 56
212342 1978
25
Idiopathic intestinal pseudoobstruction. Report of a case, with intraluminal studies of mechanical and electrical activity, and response to drugs. 56
618418 1978
26
Chronic idiopathic intestinal pseudo-obstruction syndrome in children--clinical characteristics and prognosis. 56
839371 1977
27
The radiologic manifestations of idiopathic intestinal pseudoobstruction. 56
973657 1976
28
Chronic idiopathic intestinal pseudo-obstruction. 56
5452942 1970
29
Radical enterectomy for hereditary megaduodenum. 56
5640593 1968
30
HEREDITARY VESICOURETERAL REFLUX. 56
14119085 1964
31
Hyperamylasemia and hyperactivity of salivary glands associated with megaesophagus. 56
13781234 1961
32
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. 61
31769566 2020
33
Opioid-induced hypoadrenalism resulting in fasting hypoglycaemia. 61
31831513 2019
34
Role of Ryanodine Type 2 Receptors in Elementary Ca2+ Signaling in Arteries and Vascular Adaptive Responses. 61
31030596 2019
35
Recurrent ACTG2 gene variation in African degenerative visceral leiomyopathy. 61
30430282 2019
36
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. 61
30019982 2019
37
Multimodality imaging findings of visceral myopathy in a child presenting with palpable abdominal mass. 61
31559733 2019
38
Oral Pyridostigmine-responsive Visceral Myopathy With ACTG2 Mutations: A Case Series. 61
30334933 2019
39
Nuclear abnormalities in vascular myocytes in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 61
30402942 2018
40
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. 61
29781137 2018
41
Diagnostic Criteria of Pediatric Intestinal Myopathies. 61
28837505 2018
42
Misato underlies visceral myopathy in Drosophila. 61
29255146 2017
43
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. 61
28383543 2017
44
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. 61
28292896 2017
45
Muscle layer histopathology and manometry pattern of primary esophageal motility disorders including achalasia. 61
27699951 2017
46
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 61
29387497 2017
47
Acute large bowel pseudo-obstruction due to atrophic visceral myopathy: A case report. 61
28285209 2017
48
CD98 regulates vascular smooth muscle cell proliferation in atherosclerosis. 61
28012647 2017
49
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. 61
27481187 2016
50
Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature. 61
27410460 2016

Variations for Visceral Myopathy

ClinVar genetic disease variations for Visceral Myopathy:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYLK NM_053025.4(MYLK):c.3985+5G>TSNV Pathogenic 427851 rs1553787619 3:123382947-123382947 3:123664100-123664100
2 ACTG2 NM_001615.4(ACTG2):c.116C>T (p.Pro39Leu)SNV Pathogenic 694268 2:74128554-74128554 2:73901427-73901427
3 ACTG2 NM_001615.4(ACTG2):c.188G>A (p.Arg63Gln)SNV Pathogenic 694269 2:74129548-74129548 2:73902421-73902421
4 ACTG2 NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser)SNV Pathogenic 132797 rs587777383 2:74136257-74136257 2:73909130-73909130
5 ACTG2 NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu)SNV Pathogenic 132798 rs587777384 2:74140693-74140693 2:73913566-73913566
6 ACTG2 NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys)SNV Pathogenic 132800 rs78001248 2:74140692-74140692 2:73913565-73913565
7 ACTG2 NM_001615.4(ACTG2):c.533G>A (p.Arg178His)SNV Pathogenic 132801 rs587777384 2:74140693-74140693 2:73913566-73913566
8 ACTG2 NM_001615.4(ACTG2):c.119G>A (p.Arg40His)SNV Pathogenic 132802 rs587777386 2:74128557-74128557 2:73901430-73901430
9 ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)SNV Pathogenic 132803 rs587777387 2:74141962-74141962 2:73914835-73914835
10 ACTG2 NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn)SNV Pathogenic 132805 rs587777388 2:74136215-74136215 2:73909088-73909088
11 ACTG2 NM_001615.4(ACTG2):c.134T>C (p.Met45Thr)SNV Pathogenic 218309 rs864309490 2:74129494-74129494 2:73902367-73902367
12 ACTG2 NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly)SNV Pathogenic 218310 rs864309491 2:74129547-74129547 2:73902420-73902420
13 ACTG2 NM_001615.4(ACTG2):c.255+210C>ASNV Pathogenic 218311 rs768290597 2:74129825-74129825 2:73902698-73902698
14 ACTG2 NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp)SNV Pathogenic 218312 rs864309492 2:74140753-74140753 2:73913626-73913626
15 LMOD1 NM_012134.3(LMOD1):c.1108C>T (p.Arg370Ter)SNV Pathogenic 264986 rs777696417 1:201869033-201869033 1:201899905-201899905
16 MYLK NM_053025.4(MYLK):c.3838_3844dup (p.Glu1282fs)duplication Pathogenic 264987 rs1553787823 3:123383092-123383093 3:123664245-123664246
17 ACTG2 NM_001615.4(ACTG2):c.613G>A (p.Ala205Thr)SNV Pathogenic 369682 rs1057516046 2:74140773-74140773 2:73913646-73913646
18 ACTG2 NM_001615.4(ACTG2):c.806_807delinsAA (p.Gly269Glu)indel Pathogenic 156554 rs587777870 2:74143711-74143712 2:73916584-73916585
19 ACTG2 NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys)SNV Pathogenic/Likely pathogenic 132799 rs587777385 2:74128556-74128556 2:73901429-73901429
20 ACTG2 NM_001615.4(ACTG2):c.348C>A (p.Asn116Lys)SNV Likely pathogenic 807365 2:74135892-74135892 2:73908765-73908765
21 MYH11 NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter)SNV Likely pathogenic 156401 rs786205435 16:15826474-15826474 16:15732617-15732617
22 DLGAP4-AS1 , MYL9 deletion Likely pathogenic 437907 20:35177147-35184110 20:36548744-36555707
23 ACTG2 NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln)SNV Likely pathogenic 495145 rs1553396458 2:74141825-74141825 2:73914698-73914698
24 MYH11 NM_002474.3(MYH11):c.379C>T (p.Pro127Ser)SNV Likely pathogenic 617478 16:15917235-15917235 16:15823378-15823378
25 ACTG2 NM_001615.4(ACTG2):c.337C>G (p.Pro113Ala)SNV Likely pathogenic 666312 2:74135881-74135881 2:73908754-73908754
26 ACTG2 NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu)SNV Likely pathogenic 180620 rs730880256 2:74136258-74136258 2:73909131-73909131
27 ACTG2 deletion Likely pathogenic 872896 2:74140749-74140936
28 ACTG2 NM_001615.4(ACTG2):c.67G>A (p.Ala23Thr)SNV Uncertain significance 495146 rs1553394796 2:74128505-74128505 2:73901378-73901378
29 ACTG2 NM_001615.4(ACTG2):c.255+210C>GSNV Uncertain significance 694318 2:74129825-74129825 2:73902698-73902698
30 MYL9 NM_006097.5(MYL9):c.184+2_184+10deldeletion Uncertain significance 818204 20:35173467-35173475 20:36545064-36545072
31 MYL9 GRCh37/hg19 20q11.23(chr20:35177459-35178246)x1copy number loss Uncertain significance 818205 20:35177459-35178246
32 ACTG2 NM_001615.4(ACTG2):c.354A>G (p.Glu118=)SNV Benign 801724 2:74135898-74135898 2:73908771-73908771

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

73 (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

Expression for Visceral Myopathy

Search GEO for disease gene expression data for Visceral Myopathy.

Pathways for Visceral Myopathy

Pathways related to Visceral Myopathy according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 MYLK MYL9 MYH11 ACTG2
2
Show member pathways
12.9 MYLK MYL9 MYH11 ACTG2
3
Show member pathways
12.65 MYLK MYL9 MYH11 ACTG2
4
Show member pathways
12.54 MYLK MYL9 MYH11 ACTG2
5
Show member pathways
12.52 MYL9 MYH11 ACTG2
6 12.26 MYLK MYL9 MYH11
7
Show member pathways
12.11 MYLK MYL9 MYH11 ACTG2
8
Show member pathways
12.08 MYLK MYL9 MYH11 ACTG2
9
Show member pathways
12.08 MYLK MYL9 MYH11 LMOD1 ACTG2
10
Show member pathways
12.05 MYL9 MYH11 ACTG2
11
Show member pathways
12.05 MYLK MYL9 MYH11
12
Show member pathways
11.95 MYLK MYL9 MYH11
13
Show member pathways
11.6 MYL9 MYH11 ACTG2
14 11.17 MYLK MYL9
15 11 MYLK MYL9 MYH11 ACTG2
16 10.58 MYLK MYL9 MYH11 LMOD1 ACTG2

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 stress fiber GO:0001725 9.26 MYLK MYL9
2 myosin complex GO:0016459 9.16 MYL9 MYH11
3 myosin filament GO:0032982 8.96 MYH11 ACTG2
4 muscle myosin complex GO:0005859 8.62 MYL9 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 9.02 MYLK MYL9 MYH11 LMOD1 ACTG2
2 smooth muscle contraction GO:0006939 8.96 MYLK MYH11

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.13 MYLK MYH11 LMOD1
2 structural constituent of muscle GO:0008307 8.62 MYL9 MYH11

Sources for Visceral Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
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17 EFO
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30 HMDB
31 HPO
32 ICD10
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39 LOVD
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61 PubMed
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