urinary bladder, atony of
MONDO:0008630Mondo
Findings
No curated finding names urinary bladder, atony of 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.
- Slow pupillary light responseHPOHP:0030211
- 4 of 5 reported patients
- HydronephrosisHPOHP:0000126
- 2 of 5 reported patients
- Neurogenic bladderHPOHP:0000011
- 2 of 5 reported patients
- Recurrent urinary tract infectionsHPOHP:0000010
- 2 of 5 reported patients
- Stage 2 chronic kidney diseaseHPOHP:0012624
- 2 of 5 reported patients
- Vesicoureteral refluxHPOHP:0000076
- 2 of 5 reported patients
- HypospadiasHPOHP:0000047
- 1 of 3 reported patients · Male
- Failure to thriveHPOHP:0001508
- 1 of 5 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 5 reported patients
- Orthostatic hypotensionHPOHP:0001278
- 1 of 5 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.
- CHRNA3HGNC:1957
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: urinary bladder, atony of
- Also called
- atony of urinary bladderbladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT