megacystis-microcolon-intestinal hypoperistalsis syndrome 2
MONDO:0025708Mondo
Findings
No curated finding names megacystis-microcolon-intestinal hypoperistalsis syndrome 2 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
- Fetal onset
HPO, annotations 2026-09-02
Features
21 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
- 1 of 1 reported patient
- AnuriaHPOHP:0100519
- 1 of 1 reported patient
- Bidirectional shuntHPOHP:0012383
- 1 of 1 reported patient
- BronchomalaciaHPOHP:0002780
- 1 of 1 reported patient
- Elevated pulmonary artery pressureHPOHP:0004890
- 1 of 1 reported patient
- Fetal megacystisHPOHP:0010956
- 5 of 5 reported patients
- Ileal atresiaHPOHP:0011102
- 1 of 1 reported patient
- MegacystisHPOHP:0000021
- 2 of 2 reported patients
- MicrocolonHPOHP:0004388
- 2 of 2 reported patients
- MydriasisHPOHP:0011499
- 1 of 1 reported patient
- OligohydramniosHPOHP:0001562
- 4 of 4 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 1 of 1 reported patient
Show the remaining 9
- PeritonitisHPOHP:0002586
- 1 of 1 reported patient
- Prune bellyHPOHP:0004392
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 1 of 1 reported patient
- PyelonephritisHPOHP:0012330
- 1 of 1 reported patient
- Recurrent infectionsHPOHP:0002719
- 1 of 1 reported patient
- Renal cortical hyperechogenicityHPOHP:0033132
- 1 of 1 reported patient
Genes
1 gene
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.
- MYH11HGNC:7569
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · G2P · Autosomal recessive · 2026
Where it sits
Other names
1 name
Resolves to: megacystis-microcolon-intestinal hypoperistalsis syndrome 2
- Also called
- MMIHS2