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Autosomal recessive distal renal tubular acidosis with deafness
1 OMIM reference -
1 associated gene
29 connected diseases
No signs/symptoms info
Disease Type of connection
Gaucher disease type 1
Cystic fibrosis
Action myoclonus - renal failure syndrome
Alpha-1-antichymotrypsin deficiency
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
CLN10 disease
CLN4B disease
FTH1-related iron overload
Fetal Gaucher disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease type 2
Gaucher disease type 3
Gelatinous drop-like corneal dystrophy
Glycogen storage disease due to LAMP-2 deficiency
Honey-droplet corneal dystrophy
Nestor-Guillermo progeria syndrome
Pontocerebellar hypoplasia type 8
Posterior polar cataract
Progressive non-fluent aphasia
Semantic dementia
Unverricht-Lundborg disease
Young adult-onset Parkinsonism
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Autosomal recessive malignant osteopetrosis
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Arthrogryposis - renal dysfunction - cholestasis
Cardiomyopathy - hypotonia - lactic acidosis
Dubin-Johnson syndrome
Synonym(s):
- AR dRTA with hearing loss
- AR dRTA wth deafness
- Autosomal recessive distal renal tubular acidosis with hearing loss
- Renal tubular acidosis type 1b
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATP6V1B1 P15313192132
No signs/symptoms info available.