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MMIHS
MCID: MGC002
MIFTS: 55

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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

Name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 57 12 25 43 58 73 54 15
Berdon Syndrome 57 12 74 25 20 43 58 73
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 12 74 20 36 6 44
Mmihs 57 20 43 58 73
Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome 20 58
Visceral Myopathy 12 73
Mmih Syndrome 20 43
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih 12
Megacystis, Microcolon, Hypoperistalsis Syndrome 43
Mmhs 25

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®:

57 (Updated 05-Mar-2021)
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:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Gastrointestinal diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gastroenterological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060610
OMIM® 57 249210
KEGG 36 H01869
NCIt 50 C98982
SNOMED-CT 67 253781004
ICD10 via Orphanet 33 Q43.8
UMLS via Orphanet 72 C1608393
Orphanet 58 ORPHA2241
UMLS 71 C1608393
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Summaries for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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MedlinePlus Genetics : 43 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. The drugs Phenylephrine and Oxymetazoline have been mentioned in the context of this disorder. Affiliated tissues include colon, smooth muscle and heart, 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.

GARD : 20 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
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Related Diseases for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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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 33.0 MYLK MYL9 MYH11 LMOD1 ACTG2
2 microcolon 32.0 VCL MYLK MYL9 MYH11 LMOD1 DMD
3 myopathy 31.4 MYH11 LMOD3 LMOD2 DMD DES ACTG2
4 intestinal pseudo-obstruction 31.2 SMTN MYLK MYL9 MYH11 LMOD1 ACTG2
5 actg2-related disorders 11.6
6 visceral myopathy, familial, with external ophthalmoplegia 11.5
7 mitochondrial dna depletion syndrome 8a 11.1
8 intestinal obstruction 11.1
9 hydronephrosis 11.0
10 prune belly syndrome 10.7
11 autosomal recessive disease 10.7
12 urofacial syndrome 1 10.6
13 liver disease 10.6
14 polyhydramnios 10.6
15 oligohydramnios 10.6
16 urinary tract obstruction 10.6
17 vesicoureteral reflux 1 10.5
18 extracardiac rhabdomyoma 10.4 DMD DES
19 cytoplasmic body myopathy 10.4 DMD DES
20 cardioneuromyopathy with hyaline masses and nemaline rods 10.4 DMD DES
21 fibrosis of extraocular muscles, congenital, 1 10.3
22 hypertriglyceridemia, familial 10.3
23 volvulus of midgut 10.3
24 cryptorchidism, unilateral or bilateral 10.3
25 cystic fibrosis 10.3
26 hypoascorbemia 10.3
27 colitis 10.3
28 diversion colitis 10.3
29 umbilical hernia 10.3
30 omphalocele 10.3
31 bone disease 10.3
32 urinary tract infection 10.3
33 short bowel syndrome 10.3
34 gastroparesis 10.3
35 acute cystitis 10.3
36 megaesophagus 10.3
37 tuberous sclerosis 10.3
38 hypothyroidism 10.3
39 thrombocytopenia 10.3
40 constipation 10.3
41 gastric dilatation 10.3
42 peritonitis 10.3
43 ileus 10.3
44 neuropathy 10.3
45 hypoglycemia 10.3
46 chromosomal triplication 10.3
47 growth hormone deficiency 10.3
48 horseshoe kidney 10.3
49 hypoganglionosis 10.3
50 posterior urethral valves 10.3

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



Diseases related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
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Symptoms & Phenotypes for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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

58 31 (show all 20)
# 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%)
18 oligohydramnios 31 HP:0001562
19 fetal megacystis 31 HP:0010956
20 generalized edema 31 HP:0007430

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.32 ACTA2 CHRNA3 DES DMD LMOD2 LMOD3
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Drugs & Therapeutics for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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Drugs for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenylephrine Approved 59-42-7 6041
2
Oxymetazoline Approved, Investigational 1491-59-4 4636
3
Nitroprusside Approved, Investigational 15078-28-1 11963622
4
Ephedrine Approved 299-42-3 9294
5
Nitric Oxide Approved 10102-43-9 145068
6
Pseudoephedrine Approved 90-82-4 7028
7 Adrenergic alpha-Agonists
8 Cardiotonic Agents
9 Protective Agents
10 Respiratory System Agents
11 Neurotransmitter Agents
12 Nasal Decongestants
13 Antihypertensive Agents
14 Mydriatics
15 Sympathomimetics
16 Vasoconstrictor Agents
17 Adrenergic Agents
18 Vasodilator Agents
19 Adrenergic Agonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter Double-blind Placebo-controlled Parallel-group Randomized Clinical Trial of Efficacy and Safety of MMH-MAP in the Treatment of Mild Cognitive Impairment in Early Recovery Stage After Ischemic Stroke Completed NCT03815292 Phase 3 MMH-MAP;Placebo
2 A Multicenter, Placebo-controlled, Double-blind, Randomized Clinical Trial in Parallel Groups to Evaluate the Efficacy and Safety of ММН-407 in the Treatment of Influenza in Outpatient Adults Recruiting NCT04250311 Phase 3 MMH-407;Placebo
3 A Multicenter, Double-blind, Randomized, Parallel Group Placebo-controlled Clinical Trial of Efficacy and Safety of MMH-MAP in the Treatment of Cognitive Disorders in Patients With Ischemic Stroke in the Carotid Arteries Suspended NCT04295681 Phase 3 MMH-MAP;Placebo
4 Mortality and Risk Factors in Patients With Acute Cardiogenic Pulmonary Edema: a Multicentric, Observational, Prospective Study Unknown status NCT01269177
5 Choroidal Thickness During Changes in Intraocular Pressure and Arterial Blood Pressure Terminated NCT01333891 Phenylephrine;Sodium-Nitroprusside

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

Cochrane evidence based reviews: megacystis microcolon intestinal hypoperistalsis syndrome

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Genetic Tests for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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Anatomical Context for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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

40
Colon, Smooth Muscle, Heart, Kidney, Liver
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Publications for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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Articles related to Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome:

(show top 50) (show all 201)
# Title Authors PMID Year
1
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 61 57 6 25
28602422 2017
2
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 25 6 61
24676022 2014
3
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 61 6
24337657 2014
4
Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18. 61 57
11484210 2001
5
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. 61 57
1785644 1991
6
Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 57
1856835 1991
7
Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 57
2661823 1989
8
The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition. 61 57
2918532 1989
9
Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 57
3385744 1988
10
Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. 57 61
3746839 1986
11
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy. 61 57
6834228 1983
12
Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: common pathogenesis? 57 61
6622092 1983
13
Megacystis-microcolon-intestinal hypoperistalsis syndrome in a male infant. 57 61
7403542 1980
14
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a rare cause of intestinal obstruction in the newborn. 57 61
7378684 1980
15
Megacystis-microcolon-intestinal hypoperistalsis syndrome: antenatal ultrasound appearance. 61 57
114029 1979
16
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. 57 61
178239 1976
17
Fetal megacystis: a lot more than LUTO. 25 61
30043466 2019
18
Urologic Phenotype and Patterns of Care in Patients With Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Presenting to a Major Pediatric Transplantation Center. 25 61
29752972 2018
19
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 25
29453416 2018
20
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. 25 61
28292896 2017
21
Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management. 25 61
27421821 2016
22
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 61 25
26647307 2016
23
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature. 61 25
26645214 2016
24
Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan. 61 25
26413901 2015
25
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 25
25407000 2015
26
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 61 25
25998219 2015
27
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. 6
24777424 2014
28
Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. 61 25
24577413 2014
29
Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. 61 25
22926452 2013
30
Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report. 61 25
23167913 2013
31
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. 6
22960657 2012
32
Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. 61 25
21792650 2011
33
Magnetic resonance imaging for prenatal diagnosis of multisystem disease: megacystis microcolon intestinal hypoperistalsis syndrome. 61 25
19501881 2009
34
Megacystis microcolon intestinal hypoperistalsis syndrome. 61 25
15770589 2005
35
Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. 57
11450844 2001
36
Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes. 25
29575632 2018
37
Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant. 25
29072330 2017
38
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. 25
28422808 2017
39
Variants of Hirschsprung disease. 25
22985836 2012
40
Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit. 54 61
11487544 2001
41
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction. 61
33294969 2021
42
Imaging findings of a twin male neonate with megacystis microcolon intestinal hypoperistalsis syndrome. 61
33437344 2021
43
Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome. 61
33031641 2020
44
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series with Long Term Follow up and Prolonged Survival. 61
33264186 2020
45
Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11-14 week's gestation. 61
33219696 2020
46
Massive atonic bleeding during cesarean delivery in a patient with chronic idiopathic intestinal pseudo-obstruction: A case report and literature review. 61
32748506 2020
47
Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with cystic fibrosis and meconium peritonitis in a female neonate 4 days of age - case report and review of the literature. 61
33225270 2020
48
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. 61
32621347 2020
49
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
50
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. 61
31769566 2020
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Variations for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTG2 NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn) SNV Pathogenic 132805 rs587777388 2:74136215-74136215 2:73909088-73909088
2 ACTG2 NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp) SNV Pathogenic 218312 rs864309492 2:74140753-74140753 2:73913626-73913626
3 ACTG2 NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) SNV Pathogenic 132799 rs587777385 2:74128556-74128556 2:73901429-73901429
4 ACTG2 NM_001615.4(ACTG2):c.806_807delinsAA (p.Gly269Glu) Indel Pathogenic 156554 rs587777870 2:74143711-74143712 2:73916584-73916585
5 MYLK NM_053025.4(MYLK):c.3838_3844dup (p.Glu1282fs) Duplication Pathogenic 264987 rs1553787823 3:123383092-123383093 3:123664245-123664246
6 ACTG2 NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu) SNV Pathogenic 132798 rs587777384 2:74140693-74140693 2:73913566-73913566
7 ACTG2 NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) SNV Pathogenic 132800 rs78001248 2:74140692-74140692 2:73913565-73913565
8 ACTG2 NM_001615.4(ACTG2):c.533G>A (p.Arg178His) SNV Pathogenic 132801 rs587777384 2:74140693-74140693 2:73913566-73913566
9 ACTG2 NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly) SNV Pathogenic 218310 rs864309491 2:74129547-74129547 2:73902420-73902420
10 ACTG2 NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser) SNV Pathogenic 132797 rs587777383 2:74136257-74136257 2:73909130-73909130
11 ACTG2 NM_001615.4(ACTG2):c.119G>A (p.Arg40His) SNV Pathogenic 132802 rs587777386 2:74128557-74128557 2:73901430-73901430
12 ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) SNV Pathogenic 132803 rs587777387 2:74141962-74141962 2:73914835-73914835
13 ACTG2 NM_001615.4(ACTG2):c.188G>A (p.Arg63Gln) SNV Pathogenic 694269 rs1573462811 2:74129548-74129548 2:73902421-73902421
14 ACTG2 NM_001615.4(ACTG2):c.116C>T (p.Pro39Leu) SNV Pathogenic 694268 rs1573461481 2:74128554-74128554 2:73901427-73901427
15 ACTG2 NM_001615.4(ACTG2):c.255+210C>A SNV Pathogenic 218311 rs768290597 2:74129825-74129825 2:73902698-73902698
16 LMOD1 NM_012134.3(LMOD1):c.1108C>T (p.Arg370Ter) SNV Pathogenic 264986 rs777696417 1:201869033-201869033 1:201899905-201899905
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.134T>C (p.Met45Thr) SNV Pathogenic 218309 rs864309490 2:74129494-74129494 2:73902367-73902367
19 MYLK NM_053025.4(MYLK):c.3985+5G>T SNV Pathogenic 427851 rs1553787619 3:123382947-123382947 3:123664100-123664100
20 ACTG2 NM_001615.4(ACTG2):c.589_613+163del Deletion Likely pathogenic 872896 2:74140749-74140936 2:73913622-73913809
21 ACTG2 NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) SNV Likely pathogenic 495145 rs1553396458 2:74141825-74141825 2:73914698-73914698
22 ACTG2 NM_001615.4(ACTG2):c.337C>G (p.Pro113Ala) SNV Likely pathogenic 666312 rs1573468797 2:74135881-74135881 2:73908754-73908754
23 MYH11 NM_002474.3(MYH11):c.379C>T (p.Pro127Ser) SNV Likely pathogenic 617478 rs1596904322 16:15917235-15917235 16:15823378-15823378
24 MYL9 Deletion Likely pathogenic 437907 20:35177147-35184110 20:36548744-36555707
25 ACTG2 NM_001615.4(ACTG2):c.588G>C (p.Glu196Asp) SNV Likely pathogenic 973102 2:74140748-74140748 2:73913621-73913621
26 ACTG2 NM_001615.4(ACTG2):c.348C>A (p.Asn116Lys) SNV Likely pathogenic 807365 rs757905857 2:74135892-74135892 2:73908765-73908765
27 MYH11 NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter) SNV Likely pathogenic 156401 rs786205435 16:15826474-15826474 16:15732617-15732617
28 ACTG2 NM_001615.4(ACTG2):c.443G>T (p.Arg148Leu) SNV Likely pathogenic 180620 rs730880256 2:74136258-74136258 2:73909131-73909131
29 ACTG2 NM_001615.4(ACTG2):c.614C>A (p.Ala205Asp) SNV Uncertain significance 992909 2:74141807-74141807 2:73914680-73914680
30 ACTG2 NM_001615.4(ACTG2):c.1006C>T (p.Arg336Trp) SNV Uncertain significance 973103 2:74146577-74146577 2:73919450-73919450
31 ACTG2 NM_001615.4(ACTG2):c.67G>A (p.Ala23Thr) SNV Uncertain significance 495146 rs1553394796 2:74128505-74128505 2:73901378-73901378
32 ACTG2 NM_001615.4(ACTG2):c.446C>G (p.Thr149Arg) SNV Uncertain significance 973101 2:74136261-74136261 2:73909134-73909134
33 ACTG2 NM_001615.4(ACTG2):c.123C>A (p.His41Gln) SNV Uncertain significance 973100 2:74128561-74128561 2:73901434-73901434
34 MYL9 GRCh37/hg19 20q11.23(chr20:35177459-35178246)x1 copy number loss Uncertain significance 818205 20:35177459-35178246
35 DLGAP4-AS1 NM_006097.5(MYL9):c.184+2_184+10del Deletion Uncertain significance 818204 rs1569529545 20:35173467-35173475 20:36545064-36545072
36 ACTG2 NM_001615.4(ACTG2):c.255+210C>G SNV Uncertain significance 694318 rs768290597 2:74129825-74129825 2:73902698-73902698
37 ACTG2 NM_001615.4(ACTG2):c.354A>G (p.Glu118=) SNV Benign 801724 rs756128 2:74135898-74135898 2:73908771-73908771
Sources

Expression for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
PAK Pathway 63
Show member pathways
 13.08 VCL MYLK MYL9 MYH11 ACTG2 ACTA2
2
Actin Nucleation by ARP-WASP Complex 63
Show member pathways
 12.73 MYLK MYL9 MYH11 ACTG2 ACTA2
3
Sertoli-Sertoli Cell Junction Dynamics 63
Show member pathways
 12.7 VCL MYL9 MYH11 ACTG2 ACTA2
4
Regulation of actin cytoskeleton 36 1
12.39 VCL MYLK MYL9 MYH11
5
Cytoskeletal Signaling 4
12.36 VCL MYL9 DES ACTG2 ACTA2
6
Cardiac conduction 65
Show member pathways
 12.34 VCL MYLK MYL9 MYH11 LMOD1 DMD
7
Oxytocin signaling pathway 36
Show member pathways
 12.31 MYLK MYL9 MYH11 ACTG2 ACTA2
8
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.29 VCL MYLK MYL9 MYH11 ACTG2 ACTA2
9
RhoGDI Pathway 63
Show member pathways
 12.18 VCL MYL9 MYH11 ACTG2 ACTA2
10
EPHA forward signaling 1
Show member pathways
 11.79 MYL9 MYH11 ACTG2 ACTA2
11
Striated Muscle Contraction 65 1
11.48 MYL9 DMD DES ACTA2
12
Cytoskeleton remodeling_RalA regulation pathway 23
11.18 VCL MYLK MYL9 MYH11 ACTG2 ACTA2
13
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 63
10.82 DMD ACTG2 ACTA2
14
Smooth Muscle Contraction 65
10.72 VCL MYLK MYL9 MYH11 LMOD1 ACTG2
Sources

GO Terms for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.3 VCL TBATA SMTN RBPMS2 MYLK LMOD3
2 Z disc GO:0030018 9.72 MYL9 DMD DES
3 sarcolemma GO:0042383 9.69 VCL DMD DES
4 actin cytoskeleton GO:0015629 9.65 VCL SMTN MYLK DMD ACTA2
5 lamellipodium GO:0030027 9.62 MYLK DMD ACTG2 ACTA2
6 filopodium GO:0030175 9.61 DMD ACTG2 ACTA2
7 M band GO:0031430 9.56 LMOD3 LMOD2
8 costamere GO:0043034 9.54 VCL DMD
9 myosin filament GO:0032982 9.52 MYH11 ACTG2
10 dynactin complex GO:0005869 9.49 ACTG2 ACTA2
11 muscle myosin complex GO:0005859 9.48 MYL9 MYH11
12 fascia adherens GO:0005916 9.4 VCL DES
13 cell-substrate junction GO:0030055 9.37 VCL DMD
14 striated muscle thin filament GO:0005865 9.33 LMOD3 LMOD2 LMOD1
15 cytoskeleton GO:0005856 9.32 VCL SMTN MYLK LMOD3 LMOD2 LMOD1
16 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 actin nucleation GO:0045010 9.43 LMOD3 LMOD2 LMOD1
4 mesenchyme migration GO:0090131 9.37 ACTG2 ACTA2
5 myofibril assembly GO:0030239 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

Sources for Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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