MGBL
MCID: MGB001
MIFTS: 23
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Megabladder, Congenital (MGBL)
Categories:
Genetic diseases, Muscle diseases, Nephrological diseases
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MalaCards integrated aliases for Megabladder, Congenital:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance carrier females are unaffected affected males frequently die in utero
Inheritance:
autosomal dominant HPO:31Classifications: |
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. |
Diseases related to Megabladder, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Megabladder, Congenital:31 (show all 9)
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MalaCards organs/tissues related to Megabladder, Congenital:40
Smooth Muscle,
Kidney
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Articles related to Megabladder, Congenital:(show all 29)
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ClinVar genetic disease variations for Megabladder, Congenital:6
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for disease gene expression data for Megabladder, Congenital.
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