renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
MONDO:0009968Mondo
Findings
No curated finding names renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 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
- Infantile onset
HPO, annotations 2026-09-02
Features
29 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.
- Alkaline urineHPOHP:0032944
- 3 of 3 reported patients
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- Decreased serum bicarbonate concentrationHPOHP:0032066
- 7 of 7 reported patients
- DehydrationHPOHP:0001944
- 2 of 2 reported patients
- Distal renal tubular acidosisHPOHP:0008341
- 8 of 8 reported patients
- Enlarged vestibular aqueductHPOHP:0011387
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyperchloremiaHPOHP:0011423
- 2 of 2 reported patients
- Hyperchloremic metabolic acidosisHPOHP:0004918
- 2 of 2 reported patients
- HypocalcemiaHPOHP:0002901
- 1 of 1 reported patient
- Hypokalemic metabolic alkalosisHPOHP:0001960
- 5 of 5 reported patients
Show the remaining 17
- HyposthenuriaHPOHP:0003158
- 5 of 5 reported patients
- Medullary nephrocalcinosisHPOHP:0012408
- 7 of 7 reported patients
- Muscle weaknessHPOHP:0001324
- 3 of 3 reported patients
- Postnatal growth retardationHPOHP:0008897
- 2 of 2 reported patients
- Sensorineural hearing impairmentHPO · MondoHP:0000407
- 3 of 3 reported patients
- Severe sensorineural hearing impairmentHPOHP:0008625
- 5 of 5 reported patients
Genes
2 genes
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.
- ATP6V1B1HGNC:853
- Definitive · ClinGen · Autosomal recessive · 2026
- Definitive · Natera · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SLC12A7HGNC:10915
- No Known Disease Relationship · ClinGen · Unknown · 2024
Where it sits
Other names
3 names
Resolves to: renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
- Also called
- distal renal tubular acidosis 2 with progressive sensorineural hearing lossdistal renal tubular acidosis co-occurrent with sensorineural deafnessrenal tubular acidosis, distal, with progressive nerve deafness