MCID: VSC044
MIFTS: 55

Visceral Myopathy

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

Aliases & Classifications for Visceral Myopathy

MalaCards integrated aliases for Visceral Myopathy:

Name: Visceral Myopathy 57 12 75 29 6 73
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 57 12 25 59 75 55 15
Berdon Syndrome 57 12 76 53 25 59 75
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 76 53 37 44 73
Megaduodenum and/or Megacystis 57 53 75 40
Mmihs 53 25 59
Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome 53 59
Infantile Visceral Myopathy 57 75
Mmih Syndrome 53 25
Vscm 57 75
Mmih 57 75
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome; Mmih 57
Visceral Neuropathy, Familial, Autosomal Dominant 73
Megacystis, Microcolon, Hypoperistalsis Syndrome 25
Pseudoobstruction, Idiopathic Intestinal 57
Pseudoobstruction Idiopathic Intestinal 53
Idiopathic Intestinal Pseudoobstruction 75
Intestinal Pseudo-Obstruction 73
Visceral Myopathy Familial 53

Characteristics:

Orphanet epidemiological data:

59
megacystis-microcolon-intestinal hypoperistalsis syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
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 : 53 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, diarrhea and vomiting. An important gene associated with Visceral Myopathy is ACTG2 (Actin, Gamma 2, Smooth Muscle, Enteric), and among its related pathways/superpathways are Sweet Taste Signaling and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include smooth muscle, colon and heart, and related phenotypes are nausea and vomiting and umbilical hernia

OMIM : 57 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 : 75 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.

Genetics Home Reference : 25 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.

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

Wikipedia : 76 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:

57
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)

GenitourinaryInternal GenitaliaMale:
undescended testicle (rare)


Clinical features from OMIM:

155310

Human phenotypes related to Visceral Myopathy:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
2 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
3 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
4 microcolon 59 32 hallmark (90%) Very frequent (99-80%) HP:0004388
5 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
6 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
7 intestinal malrotation 59 32 frequent (33%) Frequent (79-30%) HP:0002566
8 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
9 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
10 hydroureter 59 32 frequent (33%) Frequent (79-30%) HP:0000072
11 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
12 megacystis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000021
13 neoplasm of the heart 59 32 occasional (7.5%) Occasional (29-5%) HP:0100544
14 hypoperistalsis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100771
15 dysphagia 32 HP:0002015
16 constipation 32 HP:0002019
17 vomiting 32 HP:0002013
18 malformation of the heart and great vessels 59 Occasional (29-5%)
19 death in infancy 59 Occasional (29-5%)
20 pancreatitis 32 occasional (7.5%) HP:0001733
21 aganglionic megacolon 32 HP:0002251
22 vesicoureteral reflux 32 HP:0000076
23 diarrhea 32 HP:0002014
24 hydronephrosis 32 HP:0000126
25 abnormality of the gastrointestinal tract 59 Frequent (79-30%)
26 intestinal pseudo-obstruction 32 HP:0004389
27 malnutrition 32 HP:0004395

UMLS symptoms related to Visceral Myopathy:


constipation, diarrhea, vomiting, recurrent abdominal pain

MGI Mouse Phenotypes related to Visceral Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.43 ACTG1 ALB CHRNA3 MYH11 MYLK SMTN
2 muscle MP:0005369 9.1 MYLK SMTN ACTG1 ALB CHRNA3 MYH11

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 29 ACTG2

Anatomical Context for Visceral Myopathy

MalaCards organs/tissues related to Visceral Myopathy:

41
Smooth Muscle, Colon, Heart, Kidney, Small Intestine, Uterus, Liver

Publications for Visceral Myopathy

Articles related to Visceral Myopathy:

(show top 50) (show all 168)
# Title Authors Year
1
Prenatal diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome by biochemical analysis of fetal urine. ( 29752823 )
2018
2
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 29453416 )
2018
3
Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome. ( 29744072 )
2018
4
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report. ( 29608093 )
2018
5
Urologic Phenotype and Patterns of Care in Patients With Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Presenting to a Major Pediatric Transplantation Center. ( 29752972 )
2018
6
Acute large bowel pseudo-obstruction due to atrophic visceral myopathy: A case report. ( 28285209 )
2017
7
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: An Unusual In Utero Presentation. ( 29027710 )
2017
8
Placental Fetal Thrombotic Vasculopathy Occurring in Association with Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: A Case Report. ( 28667041 )
2017
9
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 29387497 )
2017
10
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 28602422 )
2017
11
Misato underlies visceral myopathy in Drosophila. ( 29255146 )
2017
12
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. ( 28292896 )
2017
13
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. ( 27481187 )
2016
14
Mutation in Actin I^-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients. ( 27007401 )
2016
15
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature. ( 26645214 )
2016
16
Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management. ( 27421821 )
2016
17
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 26647307 )
2016
18
Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature. ( 27410460 )
2016
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 (MMIHS): A Rarity. ( 26023535 )
2015
21
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. ( 25782675 )
2015
22
Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan. ( 26413901 )
2015
23
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
24
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Report of a Rare Case in Newborn. ( 26545999 )
2015
25
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 25407000 )
2014
26
Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. ( 24577413 )
2014
27
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. ( 24777424 )
2014
28
Portal vein thrombosis in a patient with hollow visceral myopathy. ( 24621635 )
2014
29
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 24676022 )
2014
30
Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy. ( 23816694 )
2013
31
Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 22926452 )
2013
32
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review. ( 22749573 )
2013
33
Megacystis microcolon intestinal hypoperistalsis syndrome. ( 23729700 )
2013
34
Fetal megacystis as a prenatal challenge: megacystis-microcolon-intestinal hypoperistalsis syndrome in a male fetus. ( 23243015 )
2013
35
[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. ( 23440659 )
2013
36
Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome. ( 23636104 )
2013
37
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. ( 23955298 )
2013
38
Visceral myopathy presenting as acute appendicitis and ogilvie syndrome. ( 23738185 )
2013
39
Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report. ( 23167913 )
2013
40
An adult case of midgut volvulus in familial visceral myopathy. ( 22827765 )
2012
41
An unusual urinary tract presentation in a case of megacystis microcolon intestinal hypoperistalsis syndrome. ( 23372862 )
2012
42
Segregation of a missense variant in enteric smooth muscle actin I^-2 with autosomal dominant familial visceral myopathy. ( 22960657 )
2012
43
Acute abdomen and perforated bowel with a rare pathology: nonfamilial visceral myopathy. ( 22606588 )
2011
44
Megacystis microcolon intestinal hypoperistalsis syndrome complicated by perforation. ( 21478590 )
2011
45
Megacystis, microcolon, intestinal hypoperistalsis syndrome and bilateral streak gonads. ( 21886986 )
2011
46
Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. ( 21792650 )
2011
47
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
48
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. ( 20152369 )
2010
49
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report. ( 19794822 )
2009
50
Diversion colitis in a 19-year-old female with megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 19582576 )
2009

Variations for Visceral Myopathy

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

75 (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 43)
# 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 Pathogenic rs587777386 GRCh37 Chromosome 2, 74128557: 74128557
12 ACTG2 NM_001615.3(ACTG2): c.119G> A (p.Arg40His) single nucleotide variant Pathogenic 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 GRCh38 Chromosome 2, 73902367: 73902367
24 ACTG2 NM_001615.3(ACTG2): c.134T> C (p.Met45Thr) single nucleotide variant Pathogenic rs864309490 GRCh37 Chromosome 2, 74129494: 74129494
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 GRCh38 Chromosome 3, 123664246: 123664252
34 MYLK NM_053025.3(MYLK): c.3838_3844dupGAAAGCG (p.Glu1282Glyfs) duplication Pathogenic 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 GRCh37 Chromosome 3, 123382947: 123382947
38 MYLK NM_053027.3(MYLK): c.3985+5G> T single nucleotide variant Pathogenic GRCh38 Chromosome 3, 123664100: 123664100
39 DLGAP4-AS1; MYL9 NC_000020.11: g.36548744_36555707del deletion Likely pathogenic GRCh38 Chromosome 20, 36548744: 36555707
40 ACTG2 NM_001615.3(ACTG2): c.67G> A (p.Ala23Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 74128505: 74128505
41 ACTG2 NM_001615.3(ACTG2): c.67G> A (p.Ala23Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 73901378: 73901378
42 ACTG2 NM_001615.3(ACTG2): c.632G> A (p.Arg211Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 74141825: 74141825
43 ACTG2 NM_001615.3(ACTG2): c.632G> A (p.Arg211Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 73914698: 73914698

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 ACTG1 ACTG2 MYH11 MYLK
2
Show member pathways
12.59 ACTG1 ACTG2 MYH11 MYLK
3
Show member pathways
12.34 ACTG1 ACTG2 MYH11 MYLK
4
Show member pathways
12.28 ACTG2 KCNIP4 LMOD1 MYH11 MYLK
5
Show member pathways
12.18 ACTG1 ACTG2 MYH11 MYLK
6
Show member pathways
12.07 ACTG1 ACTG2 MYH11
7
Show member pathways
12 ACTG1 MYH11 MYLK
8
Show member pathways
11.49 ACTG1 ACTG2 MYH11
9 11.28 ACTG1 ACTG2
10 11.21 ACTG1 ACTG2
11 11.1 ACTG1 ACTG2
12 10.86 ACTG1 ACTG2
13 10.8 ACTG1 ACTG2 MYH11 MYLK
14 10.65 ACTG1 ACTG2
15 10.48 ACTG2 LMOD1 MYH11 MYLK

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 cytoskeleton GO:0005856 9.72 ACTG1 ACTG2 LMOD1 MYLK SMTN
2 extracellular exosome GO:0070062 9.7 ACTG1 ACTG2 ALB FUT3 MYH11 MYLK
3 actin cytoskeleton GO:0015629 9.43 ACTG1 MYLK SMTN
4 myofibril GO:0030016 9.37 ACTG1 LMOD1
5 blood microparticle GO:0072562 9.13 ACTG1 ACTG2 ALB
6 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 retina homeostasis GO:0001895 9.16 ACTG1 ALB
3 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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