urofacial syndrome 2
MONDO:0014049Mondo
Findings
No curated finding names urofacial syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014049), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Urinary urgencyHPOHP:0000012
- 4 of 5 reported patients
- Vesicoureteral refluxHPOHP:0000076
- 4 of 5 reported patients
- ConstipationHPOHP:0002019
- 3 of 5 reported patients
- EnuresisHPOHP:0000805
- 2 of 5 reported patients
- Facial grimacingHPOHP:0000273
- 3 of 9 reported patients
- Bladder trabeculationHPOHP:0032465
- 1 of 4 reported patients
- Spastic/hyperactive bladderHPOHP:0005340
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.
- LRIG2HGNC:20889
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
3 names
Resolves to: urofacial syndrome 2
- Also called
- LRIG2 Ochoa syndromeOchoa syndrome caused by mutation in LRIG2urofacial syndrome type 2