Aliases & Classifications for Microcolon

MalaCards integrated aliases for Microcolon:

Name: Microcolon 57 29

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32

External Ids:

OMIM 57 251400
MedGen 42 C0266200
SNOMED-CT via HPO 69 258211005 18389004

Summaries for Microcolon

MalaCards based summary : Microcolon is related to visceral myopathy and chronic intestinal pseudoobstruction. An important gene associated with Microcolon is ACTG2 (Actin, Gamma 2, Smooth Muscle, Enteric), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Cardiac conduction. Affiliated tissues include smooth muscle, liver and colon, and related phenotypes are microcolon and Reduced mammosphere formation

Description from OMIM: 251400

Related Diseases for Microcolon

Graphical network of the top 20 diseases related to Microcolon:



Diseases related to Microcolon

Symptoms & Phenotypes for Microcolon

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
microcolon


Clinical features from OMIM:

251400

Human phenotypes related to Microcolon:

32
# Description HPO Frequency HPO Source Accession
1 microcolon 32 HP:0004388

GenomeRNAi Phenotypes related to Microcolon according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 ACTG2 DES MYLK VCL

MGI Mouse Phenotypes related to Microcolon:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.26 CHRNA3 DMD MYLK VCL
2 muscle MP:0005369 9.02 CHRNA3 DES DMD MYLK VCL

Drugs & Therapeutics for Microcolon

Search Clinical Trials , NIH Clinical Center for Microcolon

Genetic Tests for Microcolon

Genetic tests related to Microcolon:

# Genetic test Affiliating Genes
1 Microcolon 29

Anatomical Context for Microcolon

MalaCards organs/tissues related to Microcolon:

41
Smooth Muscle, Liver, Colon

Publications for Microcolon

Articles related to Microcolon:

(show top 50) (show all 131)
# Title Authors Year
1
Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes. ( 29575632 )
2018
2
Prenatal diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome by biochemical analysis of fetal urine. ( 29752823 )
2018
3
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 29453416 )
2018
4
Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome. ( 29744072 )
2018
5
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report. ( 29608093 )
2018
6
Urologic Phenotype and Patterns of Care in Patients With Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Presenting to a Major Pediatric Transplantation Center. ( 29752972 )
2018
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
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. ( 28292896 )
2017
12
Mutation in Actin I^-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients. ( 27007401 )
2016
13
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature. ( 26645214 )
2016
14
Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management. ( 27421821 )
2016
15
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. ( 26647307 )
2016
16
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A Rarity. ( 26023535 )
2015
17
Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan. ( 26413901 )
2015
18
Megacystic microcolon intestinal hypoperistalsis syndrome with mydriasis in a male child. ( 27522749 )
2015
19
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
20
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Report of a Rare Case in Newborn. ( 26545999 )
2015
21
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 25407000 )
2014
22
Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. ( 24577413 )
2014
23
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 24676022 )
2014
24
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. ( 24337657 )
2014
25
Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 22926452 )
2013
26
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review. ( 22749573 )
2013
27
Megacystis microcolon intestinal hypoperistalsis syndrome. ( 23729700 )
2013
28
Fetal megacystis as a prenatal challenge: megacystis-microcolon-intestinal hypoperistalsis syndrome in a male fetus. ( 23243015 )
2013
29
[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. ( 23440659 )
2013
30
Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome. ( 23636104 )
2013
31
Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. ( 23955298 )
2013
32
Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report. ( 23167913 )
2013
33
An unusual urinary tract presentation in a case of megacystis microcolon intestinal hypoperistalsis syndrome. ( 23372862 )
2012
34
Megacystis microcolon intestinal hypoperistalsis syndrome complicated by perforation. ( 21478590 )
2011
35
Megacystis, microcolon, intestinal hypoperistalsis syndrome and bilateral streak gonads. ( 21886986 )
2011
36
Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. ( 21792650 )
2011
37
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
38
Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report. ( 19794822 )
2009
39
Diversion colitis in a 19-year-old female with megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 19582576 )
2009
40
Effect of the herbal medicine dai-kenchu-to on gastrointestinal motility in patients with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and chronic idiopathic intestinal pseudo-obstruction (CIIP): report of two cases. ( 21318994 )
2009
41
Magnetic resonance imaging for prenatal diagnosis of multisystem disease: megacystis microcolon intestinal hypoperistalsis syndrome. ( 19501881 )
2009
42
[The megacystis-microcolon-intestinal hypoperistalsis syndrome: apropos of a case with prolonged survival]. ( 19160903 )
2008
43
Severe uropathy and normal amniotic fluid volume in a male fetus: sonographic surveillance leading to the diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 18577677 )
2008
44
Combined living-related segmental liver and bowel transplantation for megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 18280270 )
2008
45
An antenatal appearance of megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 18773674 )
2008
46
Hypertriglyceridemia and megacystis-microcolon-intestinal hypoperistalsis syndrome. ( 18852646 )
2008
47
Diagnosis of megacystis-microcolon intestinal hypoperistalsis syndrome with aplastic desmosis in adulthood: a case report. ( 18334881 )
2008
48
Structural basis of voiding dysfunction in megacystis microcolon intestinal hypoperistalsis syndrome. ( 18947621 )
2006
49
Megacystis-microcolon-intestinal hypoperistalsis syndrome: in utero sonographic appearance and the contribution of vesicocentesis in antenatal diagnosis. ( 16731893 )
2006
50
Megacystis microcolon intestinal hypoperistalsis syndrome. ( 15770589 )
2005

Variations for Microcolon

Expression for Microcolon

Search GEO for disease gene expression data for Microcolon.

Pathways for Microcolon

Pathways related to Microcolon according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 ACTG2 MYLK VCL
2
Show member pathways
12.16 ACTG2 DES DMD LMOD1 MYLK VCL
3 12.03 ACTG2 DES VCL
4
Show member pathways
11.86 ACTG2 DES DMD VCL
5 11.31 DES DMD
6
Show member pathways
11.06 DES MYLK
7 11.04 ACTG2 MYLK VCL
8 10.54 ACTG2 DMD
9 10.48 ACTG2 LMOD1 MYLK VCL

GO Terms for Microcolon

Cellular components related to Microcolon according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.93 ACTG2 DES DMD LMOD1 MYLK VCL
2 lamellipodium GO:0030027 9.5 ACTG2 DMD MYLK
3 filopodium GO:0030175 9.43 ACTG2 DMD
4 myofibril GO:0030016 9.4 DMD LMOD1
5 costamere GO:0043034 9.37 DMD VCL
6 sarcolemma GO:0042383 9.33 DES DMD VCL
7 fascia adherens GO:0005916 9.26 DES VCL
8 cytoskeleton GO:0005856 9.1 ACTG2 DES DMD LMOD1 MYLK VCL
9 cell-substrate junction GO:0030055 8.96 DMD VCL

Biological processes related to Microcolon according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.02 ACTG2 DES LMOD1 MYLK VCL
2 muscle filament sliding GO:0030049 8.96 DES DMD

Molecular functions related to Microcolon according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.16 DES DMD
2 dystroglycan binding GO:0002162 8.96 DMD VCL
3 actin binding GO:0003779 8.92 DMD LMOD1 MYLK VCL

Sources for Microcolon

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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