Megabladder, Congenital disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MGBL MCID: MGB001 MIFTS: 18	Megabladder, Congenital (MGBL) Categories: Genetic diseases, Nephrological diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618719

MeSH ⁴³ D014564

MedGen ⁴¹ CN263070

EFO ¹⁷ EFO_0010655

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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.

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Related Diseases for Megabladder, Congenital

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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

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Drugs & Therapeutics for Megabladder, Congenital

Search Clinical Trials , NIH Clinical Center for Megabladder, Congenital

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Genetic Tests for Megabladder, Congenital

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Anatomical Context for Megabladder, Congenital

MalaCards organs/tissues related to Megabladder, Congenital:

⁴⁰

Smooth Muscle, Kidney

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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	Houweling AC...Creemers EE	31513549	2019
2	A generalized bioavailability model (gBAM) for predicting chronic copper toxicity to freshwater fish. ⁶¹	Nys C...De Schamphelaere KA	32573793	2020
3	Coexistence of Van Hove singularities and pseudomagnetic fields in modulated graphene bilayer. ⁶¹	Vejpravova J...Kalbac M	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	Wang X...Song N	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	Gong B...Cao X	31026692	2019
6	Modeling acute toxicity of metal mixtures to wheat (Triticum aestivum L.) using the biotic ligand model-based toxic units method. ⁶¹	Wu M...Chen X	28842695	2017
7	Modeling of acute cadmium toxicity in solution to barley root elongation using biotic ligand model theory. ⁶¹	Wang X...Hua L	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	Liu Y...Peijnenburg WJ	24510448	2014
9	Maternal magnesium supplementation reduces intrauterine growth restriction and suppresses inflammation in a rat model. ⁶¹	Roman A...Metz CN	23474429	2013
10	A biotic ligand model predicting acute copper toxicity for barley (Hordeum vulgare): influence of calcium, magnesium, sodium, potassium and pH. ⁶¹	Wang X...Ma Y	22572167	2012
11	Interaction of G-quadruplexes with nonintercalating duplex-DNA minor groove binding ligands. ⁶¹	Jain AK...Bhattacharya S	22074555	2011
12	Interaction of minor groove ligands with G-quadruplexes: thermodynamic contributions of the number of quartets, T-U substitutions, and conformation. ⁶¹	Prislan I...Marky LA	21684318	2011
13	Groove binding ligands for the interaction with parallel-stranded ps-duplex DNA and triplex DNA. ⁶¹	Jain AK...Bhattacharya S	20509695	2010
14	Development of a biotic ligand model to predict the acute toxicity of cadmium to Daphnia pulex. ⁶¹	Clifford M...McGeer JC	20189256	2010
15	Refining a biotic ligand model for nickel toxicity to barley root elongation in solution culture. ⁶¹	Li B...Ma Y	19481262	2009
16	A single bioavailability model can accurately predict Ni toxicity to green microalgae in soft and hard surface waters. ⁶¹	Deleebeeck NM...De Schamphelaere KA	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	Deleebeeck NM...Janssen CR	19150109	2009
18	Effect of cations on copper toxicity to wheat root: implications for the biotic ligand model. ⁶¹	Luo XS...Zhou DM	18585752	2008
19	The acute toxicity of nickel to Daphnia magna: predictive capacity of bioavailability models in artificial and natural waters. ⁶¹	Deleebeeck NM...Janssen CR	17624431	2008
20	Comparison of nickel toxicity to cladocerans in soft versus hard surface waters. ⁶¹	Deleebeeck NM...De Schamphelaere KA	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	Lock K...Janssen CR	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	Deleebeeck NM...Janssen CR	17174394	2007
23	Development of a biotic ligand model (BLM) predicting nickel toxicity to barley (Hordeum vulgare). ⁶¹	Lock K...Janssen CR	16908050	2007
24	Evaluation of boron removal from water by hydrotalcite-like compounds. ⁶¹	Ferreira OP...Alves OL	15936056	2006
25	Development of a chronic zinc biotic ligand model for Daphnia magna. ⁶¹	Heijerick DG...Janssen CR	15978285	2005
26	Consequence of Hoechst 33342-mediated Leishmania DNA topoisomerase-I inhibition on parasite replication. ⁶¹	Marquis JF...Olivier M	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	Matsuda H...Yoshikawa M	11912066	2002
28	A biotic ligand model predicting acute copper toxicity for Daphnia magna: the effects of calcium, magnesium, sodium, potassium, and pH. ⁶¹	de Schamphelaere KA...Janssen CR	11817370	2002

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Genes for Megabladder, Congenital

Genes related to Megabladder, Congenital (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYOCD	Myocardin	Protein Coding	916.49	Molecular basis known ⁵⁶ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	31513549

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Variations for Megabladder, Congenital

ClinVar genetic disease variations for Megabladder, Congenital:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	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_12706280del	deletion	Pathogenic	689482

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Expression for Megabladder, Congenital

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

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Pathways for Megabladder, Congenital

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GO Terms for Megabladder, Congenital

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Sources for Megabladder, Congenital

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Megabladder, Congenital (MGBL)

Aliases & Classifications for Megabladder, Congenital

MalaCards integrated aliases for Megabladder, Congenital:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Megabladder, Congenital

Related Diseases for Megabladder, Congenital

Symptoms & Phenotypes for Megabladder, Congenital

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Megabladder, Congenital

Genetic Tests for Megabladder, Congenital

Anatomical Context for Megabladder, Congenital

MalaCards organs/tissues related to Megabladder, Congenital:

Publications for Megabladder, Congenital

Articles related to Megabladder, Congenital:

Genes for Megabladder, Congenital

Genes related to Megabladder, Congenital (1 elite genes):

Variations for Megabladder, Congenital

ClinVar genetic disease variations for Megabladder, Congenital:

Expression for Megabladder, Congenital

Pathways for Megabladder, Congenital

GO Terms for Megabladder, Congenital

Sources for Megabladder, Congenital