Aliases & Classifications for Microcolon

MalaCards integrated aliases for Microcolon:

Name: Microcolon 57 29

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31

External Ids:

OMIM® 57 251400
MedGen 41 C0266200
SNOMED-CT via HPO 68 18389004 258211005

Summaries for Microcolon

MalaCards based summary : Microcolon is related to visceral myopathy and megacystis-microcolon-intestinal hypoperistalsis syndrome. An important gene associated with Microcolon is MYLK (Myosin Light Chain Kinase), and among its related pathways/superpathways are Integrin Pathway and PAK Pathway. Affiliated tissues include smooth muscle, liver and colon, and related phenotypes are microcolon and muscle

More information from OMIM: 251400

Related Diseases for Microcolon

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

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 visceral myopathy 30.5 MYLK MYL9 MYH11 LMOD1 DLGAP4-AS1 ACTG2
2 megacystis-microcolon-intestinal hypoperistalsis syndrome 29.9 VCL MYLK MYL9 MYH11 LMOD1 DMD
3 intestinal pseudo-obstruction 29.9 MYLK MYH11 LMOD1 DLGAP4-AS1 ACTG2
4 myopathy 29.3 MYL9 MYH11 DMD DES ACTG2
5 actg2-related disorders 11.0
6 intestinal obstruction 10.5
7 hydronephrosis 10.4
8 prune belly syndrome 10.2
9 aortic aneurysm, familial thoracic 6 10.2 MYLK MYH11
10 heritable thoracic aortic disease 10.2 MYLK MYH11
11 autosomal recessive disease 10.2
12 loeys-dietz syndrome 3 10.2 MYLK MYH11
13 fibromuscular dysplasia 10.2 MYLK ACE
14 ileus 10.1
15 tricuspid valve insufficiency 10.1 MYH11 ACE
16 loeys-dietz syndrome 1 10.1 MYLK MYH11
17 aortic valve insufficiency 10.1 MYH11 ACE
18 urofacial syndrome 1 10.1
19 oligohydramnios 10.1
20 liver disease 10.1
21 polyhydramnios 10.1
22 pseudosarcomatous fibromatosis 10.1 DES ACTG2
23 mitral valve insufficiency 10.1 MYH11 ACE
24 meconium ileus 10.0
25 urinary tract obstruction 10.0
26 patent ductus arteriosus 1 10.0 MYLK MYH11 ACE
27 aortic dissection 10.0 MYLK MYH11 ACE
28 aortic disease 10.0 MYLK MYH11 ACE
29 extracardiac rhabdomyoma 10.0 DMD DES
30 cytoplasmic body myopathy 10.0 DMD DES
31 aortic aneurysm 10.0 MYLK MYH11 ACE
32 cardioneuromyopathy with hyaline masses and nemaline rods 10.0 DMD DES
33 autosomal dominant distal myopathy 10.0 DMD DES
34 reducing body myopathy 10.0 DMD DES
35 vesicoureteral reflux 1 9.9
36 volvulus of midgut 9.9
37 enterocolitis 9.9
38 megaesophagus 9.9
39 perinatal necrotizing enterocolitis 9.9
40 myopathy, myofibrillar, 1 9.9 DMD DES
41 gastrointestinal stromal tumor 9.8 MYH11 DES ACTG2
42 fibrosis of extraocular muscles, congenital, 1 9.8
43 hypertelorism 9.8
44 hypertriglyceridemia, familial 9.8
45 meckel diverticulum 9.8
46 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
47 cryptorchidism, unilateral or bilateral 9.8
48 cystic fibrosis 9.8
49 hypoascorbemia 9.8
50 renal tubular dysgenesis 9.8

Graphical network of the top 20 diseases related to Microcolon:



Diseases related to Microcolon

Symptoms & Phenotypes for Microcolon

Human phenotypes related to Microcolon:

31
# Description HPO Frequency HPO Source Accession
1 microcolon 31 HP:0004388

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
microcolon

Clinical features from OMIM®:

251400 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Microcolon:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 CHRNA3 DES DMD MYH11 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:

40
Smooth Muscle, Liver, Colon, Kidney, Small Intestine, Thyroid, Appendix

Publications for Microcolon

Articles related to Microcolon:

(show top 50) (show all 310)
# Title Authors PMID Year
1
The fallacy in the diagnosis of microcolon in the newborn. 61 57
14786418 1950
2
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series With Long-term Follow-up and Prolonged Survival. 61
33264186 2021
3
Imaging findings of a twin male neonate with megacystis microcolon intestinal hypoperistalsis syndrome. 61
33437344 2021
4
Visceral Myopathy: Clinical syndromes, genetics, pathophysiology, and Fall of the Cytoskeleton. 61
33729000 2021
5
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction. 61
33294969 2021
6
Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11-14 week's gestation. 61
33219696 2021
7
A rare case of neonatal colonic obstruction caused by a solitary intestinal tumor. 61
33464419 2021
8
Vascular malformation of ileum: A possible cause of neonatal intestinal obstruction. 61
33425338 2020
9
Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome. 61
33031641 2020
10
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
11
Massive atonic bleeding during cesarean delivery in a patient with chronic idiopathic intestinal pseudo-obstruction: A case report and literature review. 61
32748506 2020
12
Barium enema findings in total colonic aganglionosis: a single-center, retrospective study. 61
33126876 2020
13
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. 61
32621347 2020
14
Diagnostic performance and role of the contrast enema for low intestinal obstruction in neonates. 61
32572600 2020
15
Clinical features and management of post-necrotizing enterocolitis strictures in infants: A multicentre retrospective study. 61
32384517 2020
16
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
17
Congenital multiple colonic atresias with intestinal malrotation: a case report. 61
32232592 2020
18
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. 61
31769566 2020
19
Use of pediatric donor en bloc kidneys along with bladder segment in pediatric liver-kidney and multivisceral-kidney transplantation. 61
31605438 2020
20
Volvulus with intestinal malrotation hiding a near-total intestinal aganglionosis: Case report. 61
31771072 2020
21
Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing. 61
31848803 2019
22
Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family. 61
31427716 2019
23
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome. 61
31044419 2019
24
Esophageal dysmotility: An intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS). 61
30257810 2019
25
Fetal megacystis: a lot more than LUTO. 61
30043466 2019
26
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview 61
31070878 2019
27
Recurrent ACTG2 gene variation in African degenerative visceral leiomyopathy. 61
30430282 2019
28
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases. 61
30071301 2019
29
Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review. 61
30386895 2019
30
Preliminary Investigation of the Diagnosis of Neonatal Congenital Small Bowel Atresia by Ultrasound. 61
31662992 2019
31
Tension Pneumoperitoneum: A Rare Presentation Of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 61
30868801 2019
32
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. 61
29781137 2018
33
Urologic Phenotype and Patterns of Care in Patients With Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Presenting to a Major Pediatric Transplantation Center. 61
29752972 2018
34
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
35
[An infant with intestinal pneumatosis and pneumoperitoneum: the difficult decision not to intervene]. 61
29943768 2018
36
Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature. 61
29879038 2018
37
Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome. 61
29744072 2018
38
Prenatal diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome by biochemical analysis of fetal urine. 61
29752823 2018
39
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: An Unusual In Utero Presentation. 61
29027710 2018
40
Japanese clinical practice guidelines for allied disorders of Hirschsprung's disease, 2017. 61
29878629 2018
41
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. 61
29453416 2018
42
Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes. 61
29575632 2018
43
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report. 61
29608093 2018
44
Diagnostic Criteria of Pediatric Intestinal Myopathies. 61
28837505 2018
45
Megacystis microcolon intestinal hypoperistalsis syndrome. 61
31037170 2018
46
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 61
28602422 2017
47
Congenital absence of jejunum and ileum: A case report and literature review. 61
29557352 2017
48
Isolated Ileal Perforation in Infancy: A Lethal Initial Presentation of Hirschsprung's Disease. 61
28706618 2017
49
Placental Fetal Thrombotic Vasculopathy Occurring in Association with Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: A Case Report. 61
28667041 2017
50
Prenatal magnetic resonance and ultrasonographic findings in small-bowel obstruction: imaging clues and postnatal outcomes. 61
28116474 2017

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:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 VCL MYLK MYL9 MYH11 ACTG2
2
Show member pathways
13 VCL MYLK MYL9 MYH11 ACTG2
3
Show member pathways
12.79 MYLK MYL9 MYH11 ACTG2
4
Show member pathways
12.65 MYLK MYL9 MYH11 ACTG2
5
Show member pathways
12.64 VCL MYL9 MYH11 ACTG2
6 12.33 VCL MYLK MYL9 MYH11
7
Show member pathways
12.29 VCL MYLK MYL9 MYH11 LMOD1 DMD
8 12.22 VCL MYL9 DES ACTG2
9
Show member pathways
12.21 VCL MYLK MYL9 MYH11 ACTG2
10
Show member pathways
12.16 MYLK MYL9 MYH11 ACTG2
11
Show member pathways
12.14 MYLK MYL9 MYH11
12
Show member pathways
12.08 MYLK MYL9 MYH11
13
Show member pathways
12 VCL MYL9 MYH11 ACTG2
14
Show member pathways
11.97 DMD DES ACE
15
Show member pathways
11.71 MYL9 MYH11 ACTG2
16 11.4 MYL9 DMD DES
17 11.25 MYLK MYL9
18
Show member pathways
11.23 MYLK DES
19 11.1 VCL MYLK MYL9 MYH11 ACTG2
20 10.77 DMD ACTG2
21 10.66 VCL MYLK MYL9 MYH11 LMOD1 ACTG2

GO Terms for Microcolon

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 9.65 VCL MYLK DMD
2 lamellipodium GO:0030027 9.63 MYLK DMD ACTG2
3 cytoskeleton GO:0005856 9.63 VCL MYLK LMOD1 DMD DES ACTG2
4 Z disc GO:0030018 9.5 MYL9 DMD DES
5 myofibril GO:0030016 9.49 LMOD1 DMD
6 costamere GO:0043034 9.43 VCL DMD
7 sarcolemma GO:0042383 9.43 VCL DMD DES
8 myosin filament GO:0032982 9.4 MYH11 ACTG2
9 muscle myosin complex GO:0005859 9.37 MYL9 MYH11
10 fascia adherens GO:0005916 8.96 VCL DES
11 cell-substrate junction GO:0030055 8.62 VCL DMD

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

# Name GO ID Score Top Affiliating Genes
1 platelet aggregation GO:0070527 9.32 VCL MYL9
2 muscle filament sliding GO:0030049 9.26 DMD DES
3 muscle contraction GO:0006936 9.17 VCL MYLK MYL9 MYH11 LMOD1 DES
4 maintenance of permeability of blood-brain barrier GO:0035633 9.16 VCL DMD
5 smooth muscle contraction GO:0006939 8.96 MYLK MYH11

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.43 VCL MYH11 DMD
2 dystroglycan binding GO:0002162 9.16 VCL DMD
3 structural constituent of muscle GO:0008307 9.13 MYL9 MYH11 DMD
4 actin binding GO:0003779 9.1 VCL MYLK MYH11 LMOD1 DMD ACE

Sources for Microcolon

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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