MGBL
MCID: MGB001
MIFTS: 18
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Megabladder, Congenital (MGBL)
Categories:
Genetic diseases, Nephrological diseases
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MalaCards integrated aliases for Megabladder, Congenital:Characteristics:OMIM:56
Miscellaneous:
incomplete penetrance carrier females are unaffected affected males frequently die in utero
Inheritance:
autosomal dominant Classifications: |
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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MalaCards organs/tissues related to Megabladder, Congenital:40
Smooth Muscle,
Kidney
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Articles related to Megabladder, Congenital:(show all 28)
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ClinVar genetic disease variations for Megabladder, Congenital:6
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Search
GEO
for disease gene expression data for Megabladder, Congenital.
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