Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS)

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Disease Ontology 12 DOID:0060610 OMIM 56 249210 KEGG 36 H01869 MeSH 43 C536138 D007418 NCIt 49 C98982 SNOMED-CT 67 253781004

ICD10 via Orphanet 33 Q43.8 UMLS via Orphanet 72 C1608393 Orphanet 58 ORPHA2241 MedGen 41 CN969967 SNOMED-CT via HPO 68 16932000 18389004 18735004 204878001 204962002 253789002 29980002 387842002 396347007 41931001 48641006 60728008 69758005 77853002 82525005 86203003 95576001 more UMLS 71 C1608393

Genetics Home Reference : ²⁵ Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disorder affecting the muscles that line the bladder and intestines. It is characterized by impairment of the muscle contractions that move food through the digestive tract (peristalsis) and empty the bladder. Some of the major features of MMIHS can be recognized before birth using ultrasound imaging. Affected fetuses have an enlarged bladder (megacystis) because it does not empty. In addition, the large intestine (colon) is abnormally narrow (microcolon) because of a shortage of functional muscle lining it. Intestinal and bladder problems persist throughout life. After birth, the continued impairment of peristalsis (hypoperistalsis) often causes a digestive condition called intestinal pseudo-obstruction. This condition, which mimics a physical blockage (obstruction) of the intestines but without an actual blockage, leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, and vomiting. The vomit usually contains a green or yellow digestive fluid called bile. Because digestion is impeded and the body does not get the nutrients from food, nutritional support is usually needed, which is given through intravenous feedings (parenteral nutrition). While some affected individuals rely solely on intravenous feedings, others require it only on occasion. Long-term use of parenteral nutrition can lead to liver problems. The reduced ability to pass urine also contributes to painful distention of the abdomen. Many people with MMIHS require placement of a tube (urinary catheter) to remove urine from the bladder. Another abnormality in some people with MMIHS is intestinal malrotation, in which the intestines do not fold properly. Instead, they twist abnormally, often causing a blockage. Individuals with MMIHS can also develop problems with the kidneys or the ureters, which are the ducts that carry urine from the kidneys to the bladder. The life expectancy of people with MMIHS is shorter than normal, often due to malnutrition, overwhelming infection (sepsis), or the failure of multiple organs.

MalaCards based summary : Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, also known as berdon syndrome, is related to visceral myopathy and microcolon. An important gene associated with Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome is MYLK (Myosin Light Chain Kinase), and among its related pathways/superpathways are PAK Pathway and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include colon, kidney and smooth muscle, and related phenotypes are nausea and vomiting and abdominal distention

Disease Ontology : ¹² A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.

NIH Rare Diseases : ⁵² Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition characterized by abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis); very small colon (microcolon); and decreased or absent intestinal movements (intestinal peristalsis). Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium (the first bowel movement the baby has). Other intestinal anomalies may be present like intestinal malrotation . Many problems with the urinary tract result from the bladder dysfunction. It is part of a group of conditions caused by changes (mutations ) in the ACTG2 gene and is inherited in an autosomal dominant manner. However medical scientists believe that many cases of MMIHS are caused by de novo mutations in the ACTG2 gene (meaning the mutation in the gene happened by mistake during the making of the sperm or egg). There is currently no cure for MMIHS and treatment is supportive. In the majority of patients total parenteral nutrition is required.

KEGG : ³⁶ Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital anomaly with decreased muscular tone in the urinary tract and intestine. MMIHS is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction. Hypoperistalsis causes a pseudo-obstruction which leads to a shortened and malrotated microcolon and food intolerance. MMIHS usually affects women, and is almost lethal in the first year of life. Although pro-kinetic agents and alimentation have prolonged life in some cases, but the long term outcome remains poor. Extensive surgical intervention is required for survival. Pathogenesis of MMIHS remains unclear but impaired peristalsis seems to be owing to abnormal ganglion cells pattern and absence of interstitial Cajal cells. While it is believed to be an autosomal recessive disorder, most cases are sporadic. It has been identified de novo ACTG2 mutations cause MMIHS.

UniProtKB/Swiss-Prot : ⁷³ Megacystis-microcolon-intestinal hypoperistalsis syndrome: An autosomal recessive disease characterized by loss of smooth muscle contraction in the bladder and intestine, resulting in abnormal intestinal mobility and pseudo-obstruction, microcolon, megacystis, abdominal pain and malnutrition.

Wikipedia : ⁷⁴ Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome),... more...

More information from OMIM: 249210

GeneReviews: NBK540960

Clinical features from OMIM:

249210

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