MMIHS
MCID: MGC002
MIFTS: 52

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS)

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

Aliases & Classifications for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

MalaCards integrated aliases for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome:

Name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 56 12 24 25 58 73 54 15
Berdon Syndrome 56 12 74 24 52 25 58 73
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 12 74 52 36 43
Mmihs 56 52 25 58 73
Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome 52 58
Visceral Myopathy 12 73
Mmih Syndrome 52 25
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih 12
Megacystis, Microcolon, Hypoperistalsis Syndrome 25
Mmhs 24

Characteristics:

Orphanet epidemiological data:

58
megacystis-microcolon-intestinal hypoperistalsis syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
distended bladder seen on prenatal ultrasound
generalized subcutaneous edema on prenatal ultrasound
intrauterine or neonatal death


HPO:

31
megacystis-microcolon-intestinal hypoperistalsis syndrome:
Clinical modifier death in infancy


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060610
OMIM 56 249210
KEGG 36 H01869
NCIt 49 C98982
SNOMED-CT 67 253781004
ICD10 via Orphanet 33 Q43.8
UMLS via Orphanet 72 C1608393
Orphanet 58 ORPHA2241
MedGen 41 CN969967
UMLS 71 C1608393

Summaries for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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. Some of the major features of MMIHS can be recognized before birth using ultrasound imaging. Affected fetuses have an enlarged bladder (megacystis) because it does not empty. In addition, the large intestine (colon) is abnormally narrow (microcolon) because of a shortage of functional muscle lining it. Intestinal and bladder problems persist throughout life. After birth, the continued impairment of peristalsis (hypoperistalsis) often causes a digestive condition called intestinal pseudo-obstruction. This condition, which mimics a physical blockage (obstruction) of the intestines but without an actual blockage, leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, and vomiting. The vomit usually contains a green or yellow digestive fluid called bile. Because digestion is impeded and the body does not get the nutrients from food, nutritional support is usually needed, which is given through intravenous feedings (parenteral nutrition). While some affected individuals rely solely on intravenous feedings, others require it only on occasion. Long-term use of parenteral nutrition can lead to liver problems. The reduced ability to pass urine also contributes to painful distention of the abdomen. Many people with MMIHS require placement of a tube (urinary catheter) to remove urine from the bladder. Another abnormality in some people with MMIHS is intestinal malrotation, in which the intestines do not fold properly. Instead, they twist abnormally, often causing a blockage. Individuals with MMIHS can also develop problems with the kidneys or the ureters, which are the ducts that carry urine from the kidneys to the bladder. The life expectancy of people with MMIHS is shorter than normal, often due to malnutrition, overwhelming infection (sepsis), or the failure of multiple organs.

MalaCards based summary : Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, also known as berdon syndrome, is related to visceral myopathy and microcolon. An important gene associated with Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome is MYLK (Myosin Light Chain Kinase), and among its related pathways/superpathways are PAK Pathway and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include colon, kidney and smooth muscle, and related phenotypes are nausea and vomiting and abdominal distention

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

NIH Rare Diseases : 52 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.

KEGG : 36 Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital anomaly with decreased muscular tone in the urinary tract and intestine. MMIHS is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction. Hypoperistalsis causes a pseudo-obstruction which leads to a shortened and malrotated microcolon and food intolerance. MMIHS usually affects women, and is almost lethal in the first year of life. Although pro-kinetic agents and alimentation have prolonged life in some cases, but the long term outcome remains poor. Extensive surgical intervention is required for survival. Pathogenesis of MMIHS remains unclear but impaired peristalsis seems to be owing to abnormal ganglion cells pattern and absence of interstitial Cajal cells. While it is believed to be an autosomal recessive disorder, most cases are sporadic. It has been identified de novo ACTG2 mutations cause MMIHS.

UniProtKB/Swiss-Prot : 73 Megacystis-microcolon-intestinal hypoperistalsis syndrome: An autosomal recessive disease characterized by loss of smooth muscle contraction in the bladder and intestine, resulting in abnormal intestinal mobility and pseudo-obstruction, microcolon, megacystis, abdominal pain and malnutrition.

Wikipedia : 74 Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome),... more...

More information from OMIM: 249210
GeneReviews: NBK540960

Related Diseases for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Diseases related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 visceral myopathy 34.0 MYLK MYL9 MYH11 LMOD1 ACTG2
2 microcolon 32.1 VCL MYLK MYL9 MYH11 LMOD1 DMD
3 prune belly syndrome 31.7 PRUNE1 MYH11 ACTG2 ACTA2
4 myopathy 31.3 MYLK MYL9 MYH11 LMOD3 LMOD2 DMD
5 visceral myopathy, familial, with external ophthalmoplegia 12.6
6 actg2-related disorders 12.2
7 mitochondrial dna depletion syndrome 8a 11.3
8 intestinal obstruction 11.2
9 hydronephrosis 11.1
10 intestinal pseudo-obstruction 10.9
11 autosomal recessive disease 10.9
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 gastroparesis 10.5
18 megaesophagus 10.5
19 tuberous sclerosis 10.5
20 hypothyroidism 10.5
21 constipation 10.5
22 gastric dilatation 10.5
23 end stage renal disease 10.5
24 short bowel syndrome 10.5
25 bone disease 10.5
26 omphalocele 10.5
27 umbilical hernia 10.5
28 diversion colitis 10.5
29 colitis 10.5
30 hypoascorbemia 10.5
31 cryptorchidism, unilateral or bilateral 10.5
32 volvulus of midgut 10.5
33 hypertriglyceridemia, familial 10.5
34 ileus 10.5
35 neuropathy 10.5
36 hypoglycemia 10.5
37 chromosomal triplication 10.5
38 growth hormone deficiency 10.5
39 horseshoe kidney 10.5
40 hypoganglionosis 10.5
41 posterior urethral valves 10.5
42 encephalopathy 10.5
43 spasticity 10.5
44 atresia of urethra 10.5
45 renal dysplasia 10.5
46 extracardiac rhabdomyoma 10.5 DMD DES
47 cytoplasmic body myopathy 10.5 DMD DES
48 cardioneuromyopathy with hyaline masses and nemaline rods 10.4 DMD DES
49 aortic aneurysm, familial thoracic 6 10.4 MYLK MYH11 ACTA2
50 aortic aneurysm 10.4 MYLK MYH11 ACTA2

Graphical network of the top 20 diseases related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome:



Diseases related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Symptoms & Phenotypes for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Human phenotypes related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
3 megacystis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000021
4 microcolon 58 31 hallmark (90%) Very frequent (99-80%) HP:0004388
5 hypoperistalsis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100771
6 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
7 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
8 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
9 hydroureter 58 31 frequent (33%) Frequent (79-30%) HP:0000072
10 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
11 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
12 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
13 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
14 neoplasm of the heart 58 31 occasional (7.5%) Occasional (29-5%) HP:0100544
15 malformation of the heart and great vessels 58 Occasional (29-5%)
16 death in infancy 58 Occasional (29-5%)
17 abnormality of the gastrointestinal tract 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Prenatal Manifestations Amniotic Fluid:
polyhydramnios
oligohydramnios
anhydramnios

Abdomen Gastrointestinal:
intestinal malrotation
distal microcolon
ganglia present in mid-ileum

Genitourinary Ureters:
hydroureters

Genitourinary Kidneys:
hydronephrosis

Genitourinary Bladder:
distended bladder

Prenatal Manifestations Delivery:
premature labor

Clinical features from OMIM:

249210

MGI Mouse Phenotypes related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ACTA2 DES DMD LMOD2 LMOD3 MYH11
2 muscle MP:0005369 9.32 ACTA2 CHRNA3 DES DMD LMOD2 LMOD3

Drugs & Therapeutics for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067

Search NIH Clinical Center for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Cochrane evidence based reviews: megacystis microcolon intestinal hypoperistalsis syndrome

Genetic Tests for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Anatomical Context for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

MalaCards organs/tissues related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome:

40
Colon, Kidney, Smooth Muscle, Liver, Heart

Publications for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Articles related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome:

(show top 50) (show all 191)
# Title Authors PMID Year
1
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 61 56 24
28602422 2017
2
Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18. 61 56
11484210 2001
3
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. 61 56
1785644 1991
4
Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 56
1856835 1991
5
Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 56
2661823 1989
6
The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition. 61 56
2918532 1989
7
Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 56
3385744 1988
8
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. 61 56
3746839 1986
9
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy. 61 56
6834228 1983
10
Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: common pathogenesis? 61 56
6622092 1983
11
Megacystis-microcolon-intestinal hypoperistalsis syndrome in a male infant. 61 56
7403542 1980
12
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn. 56 61
7378684 1980
13
Megacystis-microcolon-intestinal hypoperistalsis syndrome: antenatal ultrasound appearance. 56 61
114029 1979
14
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. 56 61
178239 1976
15
Fetal megacystis: a lot more than LUTO. 61 24
30043466 2019
16
Urologic Phenotype and Patterns of Care in Patients With Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Presenting to a Major Pediatric Transplantation Center. 61 24
29752972 2018
17
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 24
29453416 2018
18
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. 24 61
28292896 2017
19
Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management. 61 24
27421821 2016
20
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 24 61
26647307 2016
21
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature. 24 61
26645214 2016
22
Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan. 24 61
26413901 2015
23
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 24
25407000 2015
24
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 24 61
25998219 2015
25
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 24 61
24676022 2014
26
Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. 24 61
24577413 2014
27
Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 24
22926452 2013
28
Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report. 24 61
23167913 2013
29
Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. 24 61
21792650 2011
30
Magnetic resonance imaging for prenatal diagnosis of multisystem disease: megacystis microcolon intestinal hypoperistalsis syndrome. 24 61
19501881 2009
31
Megacystis microcolon intestinal hypoperistalsis syndrome. 24 61
15770589 2005
32
Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. 56
11450844 2001
33
Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes. 24
29575632 2018
34
Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant. 24
29072330 2017
35
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. 24
28422808 2017
36
Variants of Hirschsprung disease. 24
22985836 2012
37
Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit. 61 54
11487544 2001
38
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. 61
31944481 2020
39
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. 61
31769566 2020
40
Use of pediatric donor en bloc kidneys along with bladder segment in pediatric liver-kidney and multivisceral-kidney transplantation. 61
31605438 2020
41
Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing. 61
31848803 2019
42
Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family. 61
31427716 2019
43
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome. 61
31044419 2019
44
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview 61
31070878 2019
45
Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review. 61
30386895 2019
46
Tension Pneumoperitoneum: A Rare Presentation Of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 61
30868801 2019
47
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. 61
29781137 2018
48
Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction. 61
30093259 2018
49
Prenatal diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome by biochemical analysis of fetal urine. 61
29752823 2018
50
Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome. 61
29744072 2018

Variations for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

ClinVar genetic disease variations for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome:

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

Expression for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Search GEO for disease gene expression data for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome.

Pathways for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Pathways related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 VCL MYLK MYL9 MYH11 ACTG2 ACTA2
2
Show member pathways
12.73 MYLK MYL9 MYH11 ACTG2 ACTA2
3
Show member pathways
12.7 VCL MYL9 MYH11 ACTG2 ACTA2
4
Show member pathways
12.45 VCL DMD ACTG2 ACTA2
5 12.39 VCL MYLK MYL9 MYH11
6 12.36 VCL MYL9 DES ACTG2 ACTA2
7
Show member pathways
12.34 VCL MYLK MYL9 MYH11 LMOD1 DMD
8
Show member pathways
12.32 MYLK MYL9 MYH11 ACTG2 ACTA2
9
Show member pathways
12.29 VCL MYLK MYL9 MYH11 ACTG2 ACTA2
10
Show member pathways
12.18 VCL MYL9 MYH11 ACTG2 ACTA2
11
Show member pathways
11.79 MYL9 MYH11 ACTG2 ACTA2
12 11.48 MYL9 DMD DES ACTA2
13 11.18 VCL MYLK MYL9 MYH11 ACTG2 ACTA2
14 10.98 ACTG2 ACTA2
15 10.82 DMD ACTG2 ACTA2
16 10.72 VCL MYLK MYL9 MYH11 LMOD1 ACTG2

GO Terms for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Cellular components related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.31 WARS1 VCL PRUNE1 MYLK MYL9 MYH11
2 cytoplasm GO:0005737 10.2 WARS1 VCL SMTN RBPMS2 PRUNE1 MYLK
3 Z disc GO:0030018 9.73 MYL9 DMD DES
4 sarcolemma GO:0042383 9.69 VCL DMD DES
5 lamellipodium GO:0030027 9.67 MYLK DMD ACTG2 ACTA2
6 actin cytoskeleton GO:0015629 9.65 VCL SMTN MYLK ACTG2 ACTA2
7 filopodium GO:0030175 9.63 DMD ACTG2 ACTA2
8 M band GO:0031430 9.57 LMOD3 LMOD2
9 costamere GO:0043034 9.55 VCL DMD
10 myosin filament GO:0032982 9.52 MYH11 ACTG2
11 dynactin complex GO:0005869 9.49 ACTG2 ACTA2
12 muscle myosin complex GO:0005859 9.48 MYL9 MYH11
13 fascia adherens GO:0005916 9.43 VCL DES
14 cell-substrate junction GO:0030055 9.4 VCL DMD
15 striated muscle thin filament GO:0005865 9.33 LMOD3 LMOD2 LMOD1
16 cytoskeleton GO:0005856 9.32 VCL SMTN MYLK LMOD3 LMOD2 LMOD1
17 myofibril GO:0030016 9.26 LMOD3 LMOD2 LMOD1 DMD

Biological processes related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.58 LMOD3 LMOD2 LMOD1
2 smooth muscle contraction GO:0006939 9.5 SMTN MYLK MYH11
3 myofibril assembly GO:0030239 9.43 LMOD3 LMOD2 LMOD1
4 mesenchyme migration GO:0090131 9.37 ACTG2 ACTA2
5 actin nucleation GO:0045010 9.33 LMOD3 LMOD2 LMOD1
6 muscle contraction GO:0006936 9.32 VCL MYLK MYL9 MYH11 LMOD3 LMOD2
7 pointed-end actin filament capping GO:0051694 9.13 LMOD3 LMOD2 LMOD1

Molecular functions related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tropomyosin binding GO:0005523 9.33 LMOD3 LMOD2 LMOD1
2 dystroglycan binding GO:0002162 9.26 VCL DMD
3 structural constituent of muscle GO:0008307 9.26 SMTN MYL9 MYH11 DMD
4 actin binding GO:0003779 9.17 VCL SMTN MYLK MYH11 LMOD2 LMOD1

Sources for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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