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Megacystis, microcolon, hypoperistalsis syndrome(MMIHS)

MedGen UID:
296125
•Concept ID:
C1608393
•
Disease or Syndrome
Synonyms: Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis syndrome
SNOMED CT: Megacystis, microcolon, hypoperistalsis syndrome (253781004); Berdon syndrome (253781004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related gene: ACTG2
 
Monarch Initiative: MONDO:0025986
OMIM®: 249210
OMIM® Phenotypic series: PS249210
Orphanet: ORPHA2241

Definition

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Megacystis, microcolon, hypoperistalsis syndrome in Orphanet.

Professional guidelines

PubMed

Classification and diagnostic criteria of variants of Hirschsprung's disease.
Friedmacher F, Puri P
Pediatr Surg Int 2013 Sep;29(9):855-72. doi: 10.1007/s00383-013-3351-3. PMID: 23943250
Fetal megacystis: differential diagnosis.
Osborne NG, Bonilla-Musoles F, Machado LE, Raga F, Bonilla F Jr, Ruiz F, Pérez Guardia CM, Ahluwalia B
J Ultrasound Med 2011 Jun;30(6):833-41. doi: 10.7863/jum.2011.30.6.833. PMID: 21632999
Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis.
Muller F, Dreux S, Vaast P, Dumez Y, Nisand I, Ville Y, Boulot P, Guibourdenche J, Althusser M, Blin G, Gautier E, Lespinard C, Perrotin F, Poulain P, Sarramon MF; Study Group of the French Fetal Medicine Society
Prenat Diagn 2005 Mar;25(3):203-9. doi: 10.1002/pd.1088. PMID: 15791664

Recent clinical studies

Etiology

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Billon C, Piccoli GB, de Sainte Agathe JM, Stoeva R, Derive N, Heidet L, Berrebi D, Bruneval P, Jeunemaitre X, Hureaux M
Mol Genet Genomics 2024 Apr 16;299(1):44. doi: 10.1007/s00438-024-02136-3. PMID: 38625590

Diagnosis

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Billon C, Piccoli GB, de Sainte Agathe JM, Stoeva R, Derive N, Heidet L, Berrebi D, Bruneval P, Jeunemaitre X, Hureaux M
Mol Genet Genomics 2024 Apr 16;299(1):44. doi: 10.1007/s00438-024-02136-3. PMID: 38625590
Fetal Megacystis: Associated Structural Abnormalities and Obstetric Outcomes.
Sánchez-Prieto M, Perdomo L, Cortés B, Rodríguez I, Prats P, Rodríguez-Melcón A, Barri-Soldevila P, Serra B, Albaigés G
Fetal Pediatr Pathol 2023 Jun;42(3):394-399. Epub 2022 Dec 29 doi: 10.1080/15513815.2022.2158052. PMID: 36582017
Variant in ACTG2 Causing Megacystis Microcolon Hypoperistalsis Syndrome and Severe Familial Postpartum Bleeding.
Krabek R, Smed VM, Oestergaard E, Sundberg K
Fetal Diagn Ther 2022;49(11-12):491-495. Epub 2022 Dec 12 doi: 10.1159/000528625. PMID: 36509086
Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.
Kapur RP, Goldstein AM, Loeff DS, Myers CT, Paschal CR
Pediatr Dev Pathol 2022 Nov-Dec;25(6):581-597. Epub 2022 Jun 12 doi: 10.1177/10935266221107449. PMID: 35695198
Esophageal dysmotility: An intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS).
Kocoshis SA, Goldschmidt ML, Nathan JD, El-Chammas KI, Bondoc AJ, Tiao GM, Alonso MH, Ubesie AC, Cole CR, Kaul A
J Pediatr Surg 2019 Jul;54(7):1303-1307. Epub 2018 Sep 7 doi: 10.1016/j.jpedsurg.2018.08.051. PMID: 30257810

Therapy

Pamidronate in a girl with chronic renal insufficiency dependent on parenteral nutrition.
Duke JL, Jones DP, Frizzell NK, Chesney RW, Hak EB
Pediatr Nephrol 2003 Jul;18(7):714-7. Epub 2003 May 15 doi: 10.1007/s00467-003-1162-9. PMID: 12750976

Prognosis

Esophageal dysmotility: An intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS).
Kocoshis SA, Goldschmidt ML, Nathan JD, El-Chammas KI, Bondoc AJ, Tiao GM, Alonso MH, Ubesie AC, Cole CR, Kaul A
J Pediatr Surg 2019 Jul;54(7):1303-1307. Epub 2018 Sep 7 doi: 10.1016/j.jpedsurg.2018.08.051. PMID: 30257810

Clinical prediction guides

Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.
Kapur RP, Goldstein AM, Loeff DS, Myers CT, Paschal CR
Pediatr Dev Pathol 2022 Nov-Dec;25(6):581-597. Epub 2022 Jun 12 doi: 10.1177/10935266221107449. PMID: 35695198

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