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

MGBL MCID: MGB001 MIFTS: 23	Megabladder, Congenital (MGBL) Categories: Genetic diseases, Muscle diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Megabladder, Congenital

MalaCards integrated aliases for Megabladder, Congenital:

Name: Megabladder, Congenital ⁵⁷ ⁷³ ⁶ ¹⁷

Mgbl ⁵⁷ ¹² ⁷³

Congenital Megabladder ¹² ³⁶

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0112014

OMIM® ⁵⁷ 618719

KEGG ³⁶ H02495

MeSH ⁴⁴ D014564

MedGen ⁴¹ C5231472 CN263070

SNOMED-CT via HPO ⁶⁸ 253366007 253549006 263681008 more

EFO ¹⁷ EFO_0010655

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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 05-Mar-2021)

MalaCards based summary : Megabladder, Congenital, also known as mgbl, is related to hydronephrosis. 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 : 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

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

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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 05-Mar-2021)

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

Genitourinary Bladder:
megabladder

Clinical features from OMIM®:

618719 (Updated 05-Mar-2021)

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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 29)

#	Title	Authors	PMID	Year
1	Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. ⁵⁷ 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 KAC	32573793	2020
3	Utilising mobile game based learning methods effectively to support education. ⁶¹	Nisiotis L	33230377	2020
4	Coexistence of Van Hove singularities and pseudomagnetic fields in modulated graphene bilayer. ⁶¹	Vejpravova J...Kalbac M	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	Wang X...Song N	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	Gong B...Cao X	31026692	2019
7	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
8	Modeling of acute cadmium toxicity in solution to barley root elongation using biotic ligand model theory. ⁶¹	Wang X...Hua L	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	Liu Y...Peijnenburg WJ	24510448	2014
10	Maternal magnesium supplementation reduces intrauterine growth restriction and suppresses inflammation in a rat model. ⁶¹	Roman A...Metz CN	23474429	2013
11	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
12	Interaction of G-quadruplexes with nonintercalating duplex-DNA minor groove binding ligands. ⁶¹	Jain AK...Bhattacharya S	22074555	2011
13	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
14	Groove binding ligands for the interaction with parallel-stranded ps-duplex DNA and triplex DNA. ⁶¹	Jain AK...Bhattacharya S	20509695	2010
15	Development of a biotic ligand model to predict the acute toxicity of cadmium to Daphnia pulex. ⁶¹	Clifford M...McGeer JC	20189256	2010
16	Refining a biotic ligand model for nickel toxicity to barley root elongation in solution culture. ⁶¹	Li B...Ma Y	19481262	2009
17	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
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	Deleebeeck NM...Janssen CR	19150109	2009
19	Effect of cations on copper toxicity to wheat root: implications for the biotic ligand model. ⁶¹	Luo XS...Zhou DM	18585752	2008
20	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
21	Comparison of nickel toxicity to cladocerans in soft versus hard surface waters. ⁶¹	Deleebeeck NM...De Schamphelaere KA	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	Lock K...Janssen CR	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	Deleebeeck NM...Janssen CR	17174394	2007
24	Development of a biotic ligand model (BLM) predicting nickel toxicity to barley (Hordeum vulgare). ⁶¹	Lock K...Janssen CR	16908050	2007
25	Evaluation of boron removal from water by hydrotalcite-like compounds. ⁶¹	Ferreira OP...Alves OL	15936056	2006
26	Development of a chronic zinc biotic ligand model for Daphnia magna. ⁶¹	Heijerick DG...Janssen CR	15978285	2005
27	Consequence of Hoechst 33342-mediated Leishmania DNA topoisomerase-I inhibition on parasite replication. ⁶¹	Marquis JF...Olivier M	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	Matsuda H...Yoshikawa M	11912066	2002
29	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	PubMed IDs
1	MYOCD	Myocardin	Protein Coding	916.3	Molecular basis known ⁵⁷ 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	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MYOCD	NM_001146312.2(MYOCD):c.343C>T (p.Arg115Ter)	SNV	Pathogenic	689480	rs1597782599	17:12626253-12626253	17:12722936-12722936
2	MYOCD	NM_001146312.2(MYOCD):c.1053_1054del (p.Asn351fs)	Deletion	Pathogenic	689481	rs1597802479	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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

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®:

HPO:

Classifications:

External Ids:

Summaries for Megabladder, Congenital

Related Diseases for Megabladder, Congenital

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

Symptoms & Phenotypes for Megabladder, Congenital

Human phenotypes related to 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