KEGG   DISEASE: Megacystis microcolon intestinal hypoperistalsis syndrome
H01869                      Disease                                
Megacystis microcolon intestinal hypoperistalsis syndrome
Visceral myopathy
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.
Congenital malformation
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06528  Calcium signaling
   H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
hsa04020  Calcium signaling pathway
hsa04820  Cytoskeleton in muscle cells
nt06528 Calcium signaling
nt06539 Cytoskeleton in muscle cells
(MMIHS1) MYLK [HSA:4638] [KO:K00907]
(MMIHS2) MYH11 [HSA:4629] [KO:K10352]
(MMIHS3) LMOD1 [HSA:25802] [KO:K22030]
(MMIHS4) MYL9 [HSA:10398] [KO:K12755]
(MMIHS5) ACTG2 [HSA:72] [KO:K12315]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q43.8
MeSH: C536138
OMIM: 155310 249210 619351 619362 619365 619431
Hiradfar M, Shojaeian R, Dehghanian P, Hajian S
Megacystis microcolon intestinal hypoperistalsis syndrome.
BMJ Case Rep 2013:bcr2012007524 (2013)
PMID:28602422 (MMIHS1)
Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Am J Hum Genet 101:123-129 (2017)
PMID:25407000 (MMIHS2)
Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Eur J Hum Genet 23:1266-8 (2015)
PMID:28292896 (MMIHS3)
Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Proc Natl Acad Sci U S A 114:E2739-E2747 (2017)
PMID:33031641 (MMIHS4)
Kandler JL, Sklirou E, Woerner A, Walsh L, Cox E, Xue Y
Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Mol Genet Genomic Med 8:e1516 (2020)
PMID:24337657 (MMIHS5)
Thorson W, Diaz-Horta O, Foster J 2nd, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
Hum Genet 133:737-42 (2014)

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