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.

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.

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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.


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Megacystis-microcolon-intestinal Hypoperistalsis Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

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 %
NGS Connective Tissue Disorders Panel.

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 %
FAMILIAL AORTIC ANEURYSMS (MYH11).

By Center for Human Genetics, Inc (United States).

MYH11
Specificity
100 %
Genes
25 %
Familial Aortic Aneurysms.

By Center for Human Genetics, Inc (United States).

TGFB2, TGFBR1, TGFBR2, ACTA2, SMAD3, MYH11, MYLK, PRKG1
Specificity
25 %
Genes
50 %
Connective Tissue Disorders 22-gene panel.

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 %
Thoracic aortic aneurysms and aortic dissection - full panel.

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 %
Thoracic aortic aneurysms and aortic dissection - familial variant analysis.

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 %
Familial Aneurysm Panel.

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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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