Autosomal recessive distal renal tubular acidosis with deafness

General Information (adopted from Orphanet):

Synonyms, Signs: RENAL TUBULAR ACIDOSIS WITH PROGRESSIVE NERVE DEAFNESS
RTA WITH PROGRESSIVE NERVE DEAFNESS
RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS
AR dRTA wth deafness
Autosomal recessive distal renal tubular acidosis with hearing loss
Renal tubular acidosis type 1b
AR dRTA with hearing loss
Number of Symptoms 5
OrphanetNr: 93611
OMIM Id: 267300
ICD-10: N25.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: autosomal recessive
Autosomal recessive inheritance
[Omim]
Age of onset: Childhood
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000787) Nephrolithiasis 78 / 7739
2
(HPO:0001947) Renal tubular acidosis 21 / 7739
3
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Inactive mutant form of red cell carbonic anhydrase B in one sibship 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Konigsmark (1966) observed a 17-year-old girl who had calculi removed from both kidneys at age 12. Studies at that time showed renal tubular acidosis and bilateral neural deafness. One brother, aged 20, had similar renal disease and progressive ...
Molecular genetics OMIM Karet et al. (1999) demonstrated that distal renal tubular acidosis with sensorineural hearing loss is caused by mutation in the ATP6B1 gene (see 192132.0001-192132.0004), which encodes the B subunit of the apical proton pump mediating distal nephron acid ...