megacystis-microcolon-intestinal hypoperistalsis syndrome 1
MONDO:0100354Mondo
Findings
No curated finding names megacystis-microcolon-intestinal hypoperistalsis syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal distentionHPOHP:0003270
- Very frequent (80% to 99% of cases)
- HypoperistalsisHPOHP:0100771
- Very frequent (80% to 99% of cases)
- MegacystisHPOHP:0000021
- Very frequent (80% to 99% of cases)
- MicrocolonHPOHP:0004388
- Very frequent (80% to 99% of cases)
- Nausea and vomitingHPOHP:0002017
- Very frequent (80% to 99% of cases)
- Abnormality of the gastrointestinal tractHPOHP:0011024
- Frequent (30% to 79% of cases)
- HydroureterHPOHP:0000072
- Frequent (30% to 79% of cases)
- Intestinal malrotationHPOHP:0002566
- Antenatal onset
- Frequent (30% to 79% of cases)
- Multicystic kidney dysplasiaHPOHP:0000003
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
Show the remaining 7
- Neoplasm of the heartHPOHP:0100544
- Occasional (5% to 29% of cases)
- OmphaloceleHPOHP:0001539
- Occasional (5% to 29% of cases)
- SepsisHPOHP:0100806
- Occasional (5% to 29% of cases)
- Umbilical herniaHPOHP:0001537
- Occasional (5% to 29% of cases)
- Fetal megacystisHPOHP:0010956
- Antenatal onset
- Generalized edemaHPOHP:0007430
- Antenatal onset
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYLKHGNC:7590
- Strong · G2P · Autosomal recessive · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2017
- ACTG2HGNC:145
- Supportive · Orphanet · Autosomal dominant · 2021
- LMOD1HGNC:6647
- Supportive · Orphanet · Autosomal dominant · 2021
- MYH11HGNC:7569
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: megacystis-microcolon-intestinal hypoperistalsis syndrome 1
- Also called
- Berdon syndrome