Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 (MMIHS1)

Alias:
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Berdon Syndrome
Mmihs
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Megacystis, Microcolon, Hypoperistalsis Syndrome
Visceral Myopathy
Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih
Visceral Neuropathy, Familial, Autosomal Dominant
Intestinal Pseudo-Obstruction
Mmih Syndrome
Mmihs1
Mmhs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1, also known as megacystis-microcolon-intestinal hypoperistalsis syndrome, is related to visceral myopathy 1 and intestinal pseudo-obstruction, and has symptoms including constipation, diarrhea and vomiting. An important gene associated with Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 is MYLK (Myosin Light Chain Kinase), and among its related pathways/superpathways are PAK Pathway and Sweet Taste Signaling. The drugs Gastrointestinal Agents and Laxatives have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle and colon, and related phenotypes are nausea and vomiting and megacystis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
--
30
283
38

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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