MGBL
MCID: MGB001
MIFTS: 18

Megabladder, Congenital (MGBL)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Megabladder, Congenital

MalaCards integrated aliases for Megabladder, Congenital:

Name: Megabladder, Congenital 56 73 6 17
Mgbl 56 73

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
carrier females are unaffected
affected males frequently die in utero

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 618719
MeSH 43 D014564
MedGen 41 CN263070

Summaries for Megabladder, Congenital

OMIM : 56 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)

MalaCards based summary : Megabladder, Congenital, is also known as mgbl. An important gene associated with Megabladder, Congenital is MYOCD (Myocardin). Affiliated tissues include smooth muscle and kidney.

UniProtKB/Swiss-Prot : 73 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

Symptoms & Phenotypes for Megabladder, Congenital

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Kidneys:
kidney agenesis, unilateral (uncommon)
renal failure (uncommon)

Genitourinary Bladder:
megabladder

Clinical features from OMIM:

618719

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 28)
# Title Authors PMID Year
1
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. 56 6
31513549 2019
2
A generalized bioavailability model (gBAM) for predicting chronic copper toxicity to freshwater fish. 61
32573793 2020
3
Coexistence of Van Hove singularities and pseudomagnetic fields in modulated graphene bilayer. 61
31891936 2020
4
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
5
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
6
Modeling acute toxicity of metal mixtures to wheat (Triticum aestivum L.) using the biotic ligand model-based toxic units method. 61
28842695 2017
7
Modeling of acute cadmium toxicity in solution to barley root elongation using biotic ligand model theory. 61
27090701 2016
8
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
9
Maternal magnesium supplementation reduces intrauterine growth restriction and suppresses inflammation in a rat model. 61
23474429 2013
10
A biotic ligand model predicting acute copper toxicity for barley (Hordeum vulgare): influence of calcium, magnesium, sodium, potassium and pH. 61
22572167 2012
11
Interaction of G-quadruplexes with nonintercalating duplex-DNA minor groove binding ligands. 61
22074555 2011
12
Interaction of minor groove ligands with G-quadruplexes: thermodynamic contributions of the number of quartets, T-U substitutions, and conformation. 61
21684318 2011
13
Groove binding ligands for the interaction with parallel-stranded ps-duplex DNA and triplex DNA. 61
20509695 2010
14
Development of a biotic ligand model to predict the acute toxicity of cadmium to Daphnia pulex. 61
20189256 2010
15
Refining a biotic ligand model for nickel toxicity to barley root elongation in solution culture. 61
19481262 2009
16
A single bioavailability model can accurately predict Ni toxicity to green microalgae in soft and hard surface waters. 61
19303621 2009
17
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
18
Effect of cations on copper toxicity to wheat root: implications for the biotic ligand model. 61
18585752 2008
19
The acute toxicity of nickel to Daphnia magna: predictive capacity of bioavailability models in artificial and natural waters. 61
17624431 2008
20
Comparison of nickel toxicity to cladocerans in soft versus hard surface waters. 61
17659789 2007
21
Development and validation of a terrestrial biotic ligand model predicting the effect of cobalt on root growth of barley (Hordeum vulgare). 61
17134808 2007
22
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
23
Development of a biotic ligand model (BLM) predicting nickel toxicity to barley (Hordeum vulgare). 61
16908050 2007
24
Evaluation of boron removal from water by hydrotalcite-like compounds. 61
15936056 2006
25
Development of a chronic zinc biotic ligand model for Daphnia magna. 61
15978285 2005
26
Consequence of Hoechst 33342-mediated Leishmania DNA topoisomerase-I inhibition on parasite replication. 61
12613760 2003
27
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
28
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 GRCh37 Pos GRCh38 Pos
1 MYOCD NM_001146312.2(MYOCD):c.343C>T (p.Arg115Ter)SNV Pathogenic 689480 17:12626253-12626253 17:12722936-12722936
2 MYOCD NM_001146312.2(MYOCD):c.1053_1054del (p.Asn351fs)deletion Pathogenic 689481 17:12649316-12649317 17:12745999-12746000
3 MYOCD NC_000017.11:g.12269251_12706280deldeletion Pathogenic 689482

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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