Megacystis-microcolon-intestinal Hypoperistalsis Syndrome

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
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 Panel complete gene list SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, ELN, FBLN5, FBN1, FBN2, ABCC6, SMAD3, MYH11, MYLK, NOTCH1, ATP7A, PKD2, PLOD1, PRDM5 Close 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 Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, MFAP5, FBN1, FBN2, FOXE3, LOX, SMAD2, SMAD3, SMAD4, MAT2A, MYH11, MYLK, PLOD3, PRKG1 Close Specificity 9 % Genes 50 %

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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