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Autosomal recessive distal renal tubular acidosis without deafness
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Glycogen storage disease due to muscle phosphofructokinase deficiency
Hyperlipidemia type 3
Lipoprotein glomerulopathy
Sea-blue histiocytosis
Synonym(s):
- AR dRTA without deafness
- AR dRTA without hearing loss
- Autosomal recessive distal renal tubular acidosis without hearing loss
- Renal tubular acidosis type 1c
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: unknown
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
ATP6V0A4 Q9HBG4605239
No signs/symptoms info available.