MGBL
MCID: MGB001
MIFTS: 24

Megabladder, Congenital (MGBL)

Categories: Genetic diseases, Muscle diseases, Nephrological diseases

Aliases & Classifications for Megabladder, Congenital

MalaCards integrated aliases for Megabladder, Congenital:

Name: Megabladder, Congenital 57 72 6 17
Mgbl 57 12 72
Congenital Megabladder 12 36

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
carrier females are unaffected
affected males frequently die in utero

Inheritance:
autosomal dominant


HPO:

31
megabladder, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112014
OMIM® 57 618719
KEGG 36 H02495
MeSH 44 D014564

Summaries for Megabladder, Congenital

OMIM® : 57 Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females (Houweling et al., 2019). (618719) (Updated 20-May-2021)

MalaCards based summary : Megabladder, Congenital, also known as mgbl, is related to hydronephrosis and prune belly syndrome. An important gene associated with Megabladder, Congenital is MYOCD (Myocardin). Affiliated tissues include smooth muscle and kidney, and related phenotypes are atrial septal defect and bicuspid aortic valve

Disease Ontology : 12 A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has material basis in heterozygous mutation in MYOCD on chromosome 17p12.

KEGG : 36 Congenital megabladder (MGBL) is characterized by a massively dilated urinary bladder with disrupted smooth muscle in its wall. It has been reported that loss of function mutations in myocardin cause this disease. Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development.

UniProtKB/Swiss-Prot : 72 Megabladder, congenital: An autosomal dominant congenital anomaly characterized by a massively dilated urinary bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, and incomplete penetrance. Affected males frequently die in utero.

Related Diseases for Megabladder, Congenital

Diseases related to Megabladder, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydronephrosis 10.1
2 prune belly syndrome 10.0

Symptoms & Phenotypes for Megabladder, Congenital

Human phenotypes related to Megabladder, Congenital:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 very rare (1%) HP:0001631
2 bicuspid aortic valve 31 very rare (1%) HP:0001647
3 patent ductus arteriosus 31 very rare (1%) HP:0001643
4 ventricular septal defect 31 very rare (1%) HP:0001629
5 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
6 fetal megacystis 31 very rare (1%) HP:0010956
7 hyperechogenic kidneys 31 very rare (1%) HP:0004719
8 multiple glomerular cysts 31 very rare (1%) HP:0100611
9 left ventricular noncompaction cardiomyopathy 31 very rare (1%) HP:0011664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
kidney agenesis, unilateral (uncommon)
renal failure (uncommon)

Genitourinary Bladder:
megabladder

Clinical features from OMIM®:

618719 (Updated 20-May-2021)

Drugs & Therapeutics for Megabladder, Congenital

Search Clinical Trials , NIH Clinical Center for Megabladder, Congenital

Genetic Tests for Megabladder, Congenital

Anatomical Context for Megabladder, Congenital

MalaCards organs/tissues related to Megabladder, Congenital:

40
Smooth Muscle, Kidney

Publications for Megabladder, Congenital

Articles related to Megabladder, Congenital:

(show all 29)
# Title Authors PMID Year
1
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. 57 6
31513549 2019
2
A Generalized Bioavailability Model (gBAM) for Predicting Chronic Copper Toxicity to Freshwater Fish. 61
32573793 2020
3
Utilising mobile game based learning methods effectively to support education. 61
33230377 2020
4
Coexistence of Van Hove singularities and pseudomagnetic fields in modulated graphene bilayer. 61
31891936 2020
5
An improved biotic ligand model (BLM) for predicting Co(II)-toxicity to wheat root elongation: The influences of toxic metal speciation and accompanying ions. 61
31319244 2019
6
The cation competition and electrostatic theory are equally valid in quantifying the toxicity of trivalent rare earth ions (Y3+ and Ce3+) to Triticum aestivum. 61
31026692 2019
7
Modeling acute toxicity of metal mixtures to wheat (Triticum aestivum L.) using the biotic ligand model-based toxic units method. 61
28842695 2017
8
Modeling of acute cadmium toxicity in solution to barley root elongation using biotic ligand model theory. 61
27090701 2016
9
Impacts of major cations (K(+), Na (+), Ca (2+), Mg (2+)) and protons on toxicity predictions of nickel and cadmium to lettuce (Lactuca sativa L.) using exposure models. 61
24510448 2014
10
Maternal magnesium supplementation reduces intrauterine growth restriction and suppresses inflammation in a rat model. 61
23474429 2013
11
A biotic ligand model predicting acute copper toxicity for barley (Hordeum vulgare): influence of calcium, magnesium, sodium, potassium and pH. 61
22572167 2012
12
Interaction of G-quadruplexes with nonintercalating duplex-DNA minor groove binding ligands. 61
22074555 2011
13
Interaction of minor groove ligands with G-quadruplexes: thermodynamic contributions of the number of quartets, T-U substitutions, and conformation. 61
21684318 2011
14
Groove binding ligands for the interaction with parallel-stranded ps-duplex DNA and triplex DNA. 61
20509695 2010
15
Development of a biotic ligand model to predict the acute toxicity of cadmium to Daphnia pulex. 61
20189256 2010
16
Refining a biotic ligand model for nickel toxicity to barley root elongation in solution culture. 61
19481262 2009
17
A single bioavailability model can accurately predict Ni toxicity to green microalgae in soft and hard surface waters. 61
19303621 2009
18
Effects of Mg(2+) and H(+) on the toxicity of Ni(2+) to the unicellular green alga Pseudokirchneriella subcapitata: model development and validation with surface waters. 61
19150109 2009
19
Effect of cations on copper toxicity to wheat root: implications for the biotic ligand model. 61
18585752 2008
20
The acute toxicity of nickel to Daphnia magna: predictive capacity of bioavailability models in artificial and natural waters. 61
17624431 2008
21
Comparison of nickel toxicity to cladocerans in soft versus hard surface waters. 61
17659789 2007
22
Development and validation of a terrestrial biotic ligand model predicting the effect of cobalt on root growth of barley (Hordeum vulgare). 61
17134808 2007
23
A bioavailability model predicting the toxicity of nickel to rainbow trout (Oncorhynchus mykiss) and fathead minnow (Pimephales promelas) in synthetic and natural waters. 61
17174394 2007
24
Development of a biotic ligand model (BLM) predicting nickel toxicity to barley (Hordeum vulgare). 61
16908050 2007
25
Evaluation of boron removal from water by hydrotalcite-like compounds. 61
15936056 2006
26
Development of a chronic zinc biotic ligand model for Daphnia magna. 61
15978285 2005
27
Consequence of Hoechst 33342-mediated Leishmania DNA topoisomerase-I inhibition on parasite replication. 61
12613760 2003
28
Inhibitory mechanism of costunolide, a sesquiterpene lactone isolated from Laurus nobilis, on blood-ethanol elevation in rats: involvement of inhibition of gastric emptying and increase in gastric juice secretion. 61
11912066 2002
29
A biotic ligand model predicting acute copper toxicity for Daphnia magna: the effects of calcium, magnesium, sodium, potassium, and pH. 61
11817370 2002

Variations for Megabladder, Congenital

ClinVar genetic disease variations for Megabladder, Congenital:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYOCD NM_001146312.2(MYOCD):c.343C>T (p.Arg115Ter) SNV Pathogenic 689480 rs1597782599 GRCh37: 17:12626253-12626253
GRCh38: 17:12722936-12722936
2 MYOCD NM_001146312.2(MYOCD):c.1053_1054del (p.Asn351fs) Deletion Pathogenic 689481 rs1597802479 GRCh37: 17:12649316-12649317
GRCh38: 17:12745999-12746000
3 MYOCD NC_000017.11:g.12269251_12706280del Deletion Pathogenic 689482 GRCh37:
GRCh38:

Expression for Megabladder, Congenital

Search GEO for disease gene expression data for Megabladder, Congenital.

Pathways for Megabladder, Congenital

GO Terms for Megabladder, Congenital

Sources for Megabladder, Congenital

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