MGS
MCID: MNG003
MIFTS: 25

Mungan Syndrome (MGS)

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

Aliases & Classifications for Mungan Syndrome

MalaCards integrated aliases for Mungan Syndrome:

Name: Mungan Syndrome 57 20 72 29 13 6 70
Mgs 57 20 72
Visceral Neuromyopathy, Familial, with Pseudoobstruction, Megaduodenum, Barrett Esophagus, and Cardiac Abnormalities 57 72
Pseudoobstruction, Chronic Idiopathic Intestinal, with Barrett Esophagus and Cardiac Abnormalities 57 72
Visceral Neuromyopathy Familial with Pseudoobstruction Megaduodenum Barrett Esophagus and Cardiac Abnormalities 20
Pseudoobstruction Chronic Idiopathic Intestinal with Barrett Esophagus and Cardiac Abnormalities 20

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 1 family (last curated august 2018)


HPO:

31
mungan syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 611376
MedGen 41 C1969653
UMLS 70 C1969653

Summaries for Mungan Syndrome

UniProtKB/Swiss-Prot : 72 Mungan syndrome: An autosomal recessive disease characterized by visceral neuromyopathy, intestinal dysmotility and chronic intestinal pseudoobstruction, megaduodenum, long-segment Barrett esophagus, and a variety of cardiac valve or septal defects such as membranous ventricular septal defect, pulmonary and tricuspid valve regurgitation.

MalaCards based summary : Mungan Syndrome, also known as mgs, is related to meier-gorlin syndrome 1 and visceral myopathy. An important gene associated with Mungan Syndrome is RAD21 (RAD21 Cohesin Complex Component). Related phenotypes are vesicoureteral reflux and renal hypoplasia

Wikipedia : 73 Mungan syndrome is first described in 2003 by Mungan Z. et al. as an autosomal recessively inherited... more...

More information from OMIM: 611376

Related Diseases for Mungan Syndrome

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 meier-gorlin syndrome 1 11.5
2 visceral myopathy 11.0
3 schistosoma mansoni infection, susceptibility/ 10.2
4 schistosomiasis 10.2
5 intestinal schistosomiasis 10.0
6 thrombosis 9.9
7 gout 9.9
8 brain cancer 9.9
9 neuroblastoma 9.9
10 stomatitis 9.9
11 aphthous stomatitis 9.9
12 sutton disease 2 9.9

Graphical network of the top 20 diseases related to Mungan Syndrome:



Diseases related to Mungan Syndrome

Symptoms & Phenotypes for Mungan Syndrome

Human phenotypes related to Mungan Syndrome:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 31 HP:0000076
2 renal hypoplasia 31 HP:0000089
3 pulmonic stenosis 31 HP:0001642
4 tricuspid regurgitation 31 HP:0005180
5 abnormality of the autonomic nervous system 31 HP:0002270
6 intestinal pseudo-obstruction 31 HP:0004389
7 hypoperistalsis 31 HP:0100771
8 barrett esophagus 31 HP:0100580
9 perimembranous ventricular septal defect 31 HP:0011682
10 bilateral ptosis 31 HP:0001488
11 megaduodenum 31 HP:0030996

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Ureters:
vesicoureteral reflux

Abdomen Gastrointestinal:
megaduodenum
visceral neuromyopathy
pseudoobstruction
barrett esophagus, long-segment
aperistalsis

Cardiovascular Heart:
tricuspid valve regurgitation
ventricular septal defect, membranous
pulmonary valve regurgitation
pulmonary valve stenosis, minimal

Neurologic Peripheral Nervous System:
visceral neuromyopathy

Genitourinary Kidneys:
renal hypoplasia

Head And Neck Eyes:
ptosis, bilateral

Cardiovascular Vascular:
supravalvular pulmonary stenosis, minimal

Clinical features from OMIM®:

611376 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mungan Syndrome

Search Clinical Trials , NIH Clinical Center for Mungan Syndrome

Genetic Tests for Mungan Syndrome

Genetic tests related to Mungan Syndrome:

# Genetic test Affiliating Genes
1 Mungan Syndrome 29 RAD21

Anatomical Context for Mungan Syndrome

Publications for Mungan Syndrome

Articles related to Mungan Syndrome:

# Title Authors PMID Year
1
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. 57 6
25575569 2015
2
Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities. 57 6
14638363 2003
3
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 57
17487221 2007
4
Cohesin subunit RAD21: From biology to disease. 61
32687945 2020
5
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. 61
32193685 2020

Variations for Mungan Syndrome

ClinVar genetic disease variations for Mungan Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAD21 NM_006265.2(RAD21):c.1864G>A (p.Ala622Thr) SNV Pathogenic 560415 rs775266057 GRCh37: 8:117859771-117859771
GRCh38: 8:116847532-116847532
2 RAD21 NM_006265.2(RAD21):c.1352T>G (p.Leu451Arg) SNV Uncertain significance 372619 rs144953114 GRCh37: 8:117864305-117864305
GRCh38: 8:116852066-116852066

UniProtKB/Swiss-Prot genetic disease variations for Mungan Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 RAD21 p.Ala622Thr VAR_081285 rs775266057

Expression for Mungan Syndrome

Search GEO for disease gene expression data for Mungan Syndrome.

Pathways for Mungan Syndrome

GO Terms for Mungan Syndrome

Sources for Mungan Syndrome

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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