U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
 
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

Lombardi L, Bruder E, Pio L, Nozza P, Thai E, Lerone M, Del Rossi C, Mattioli G, Silini EM, Paraboschi I, Martucciello G
J Pediatr Gastroenterol Nutr 2018 Mar;66(3):383-386. doi: 10.1097/MPG.0000000000001727. PMID: 28837505
Friedmacher F, Puri P
Pediatr Surg Int 2013 Sep;29(9):855-72. doi: 10.1007/s00383-013-3351-3. PMID: 23943250
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

Recent clinical studies

Etiology

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

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
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
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
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
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

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

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

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...