Megacystis-microcolon-intestinal Hypoperistalsis Syndrome
Description
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.
Genes related to Megacystis-microcolon-intestinal Hypoperistalsis Syndrome
- MYH11
- MYLK
- ACTG2
- LMOD1
Clinical Features
Top most frequent phenotypes and symptoms related to Megacystis-microcolon-intestinal Hypoperistalsis Syndrome
- Cryptorchidism
- Abnormality of cardiovascular system morphology
- Polyhydramnios
- Umbilical hernia
- Nausea and vomiting
- Abdominal distention
- Sepsis
- Intestinal malrotation
- Omphalocele
- Multicystic kidney dysplasia
And another 6 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Megacystis-microcolon-intestinal Hypoperistalsis Syndrome Is also known as mmihs, megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome, berdon syndrome.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Megacystis-microcolon-intestinal Hypoperistalsis Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1
Specificity
11 %
Genes
50 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)
View the complete list with 13 more genes
Specificity
7 %
Genes
50 % |
![]() By Center for Human Genetics, Inc (United States).
MYH11
Specificity
100 %
Genes
25 % |
![]() By Center for Human Genetics, Inc (United States).
TGFB2, TGFBR1, TGFBR2, ACTA2, SMAD3, MYH11, MYLK, PRKG1
Specificity
25 %
Genes
50 % |
![]() By Center for Human Genetics, Inc (United States).
TGFB2, TGFBR1, TGFBR2, TGFBR3, ACTA2, NTM, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, SMAD3, MYH11, MYLK, NOTCH1, PRKG1
Specificity
10 %
Genes
50 % |
![]() By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).
TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, COL3A1, FBN1, SMAD3, MYH11, MYLK, NOTCH1
Specificity
19 %
Genes
50 % |
![]() By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).
TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, COL3A1, FBN1, SMAD3, MYH11, MYLK, NOTCH1
Specificity
19 %
Genes
50 % |
![]() By Collagen Diagnostic Laboratory University of Washington (United States).
BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11 , (...)
View the complete list with 3 more genes
Specificity
9 %
Genes
50 % |
You can get up to 120 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA 15; SCA15 KENNY-CAFFEY SYNDROME, TYPE 1; KCS1 HEMOGLOBIN E-BETA-THALASSEMIA SYNDROME