Mungan syndrome
MONDO:0012657Mondo
Findings
No curated finding names Mungan syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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 painHPOHP:0002027
- 3 of 3 reported patients
- Barrett esophagusHPOHP:0100580
- 3 of 3 reported patients
- GastroparesisHPOHP:0002578
- 3 of 3 reported patients
- HypoperistalsisHPOHP:0100771
- 3 of 3 reported patients
- Intestinal pseudo-obstructionHPOHP:0004389
- 3 of 3 reported patients
- MegaduodenumHPOHP:0030996
- 3 of 3 reported patients
- Pulmonic stenosisHPOHP:0001642
- 2 of 3 reported patients
- Bilateral ptosisHPOHP:0001488
- 1 of 3 reported patients
- Perimembranous ventricular septal defectHPOHP:0011682
- 1 of 3 reported patients
- Tricuspid regurgitationHPOHP:0005180
- 1 of 3 reported patients
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.
- RAD21HGNC:9811
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: Mungan syndrome
- Also called
- MGS