Details of Disease

General Information of Disease (ID: DISICJDV)

• Disease Name: Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
• Synonyms: AR dRTA with hearing loss; renal tubular acidosis type 1b; renal tubular acidosis with deafness; renal tubular acidosis, autosomal recessive, with progressive nerve deafness; renal tubular acidosis progressive nerve deafness; autosomal recessive distal renal tubular acidosis with hearing loss; RTA with progressive nerve deafness; autosomal recessive distal renal tubular acidosis with deafness; renal tubular acidosis with progressive nerve deafness; AR dRTA wth deafness; renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss; distal renal tubular acidosis co-occurrent with sensorineural deafness; distal renal tubular acidosis 2 with progressive sensorineural hearing loss; renal tubular acidosis, distal, with progressive nerve deafness
• Disease Hierarchy:
  DISCJR4O: Autosomal recessive distal renal tubular acidosis
  DISICJDV: Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
• Disease Identifiers:
  MONDO ID: MONDO_0009968
  MESH ID: C562897
  UMLS CUI: C0403554
  MedGen ID: 98336
  Orphanet ID: 93611
  SNOMED CT ID: 236532003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP6V1B1	OT8FQ7MN	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.