hypokalemic tubulopathy and deafness
MONDO:0859167Mondo
Findings
No curated finding names hypokalemic tubulopathy and deafness 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
7 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.
- Increased circulating renin concentrationHPOHP:0000848
- 7 of 7 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 8 of 8 reported patients
- AcidosisHPOHP:0001941
- 7 of 8 reported patients
- Renal salt wastingHPOHP:0000127
- 6 of 8 reported patients
- Increased circulating aldosterone concentrationHPOHP:0000859
- 5 of 7 reported patients
- AtaxiaHPOHP:0001251
- 0 of 8 reported patients
- SeizureHPOHP:0001250
- 0 of 8 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.
- KCNJ16HGNC:6262
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2021
Where it sits
- A kind of