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Autosomal recessive distal renal tubular acidosis without deafness
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Glycogen storage disease due to muscle phosphofructokinase deficiency
1 OMIM reference -
1 associated gene
6 signs/symptoms
Autosomal recessive distal renal tubular acidosis without deafness
Glycogen storage disease due to muscle phosphofructokinase deficiency

ATP6V0A4
(UniProt - OMIM)
 PFKM
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ATP6V0A4
(0.79)
PFKM


Citations in the biomedical literature:


Autosomal recessive distal renal tubular acidosis without deafness
ATP6V0A4
Glycogen storage disease due to muscle phosphofructokinase deficiency
PFKM



Autosomal recessive distal renal tubular acidosis without deafness
Glycogen storage disease due to muscle phosphofructokinase deficiency

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
Synonym(s):
- GSD due to muscle phosphofructokinase deficiency
- GSD type 7
- Glycogen storage disease type 7
- Glycogenosis due to muscle phosphofructokinase deficiency
- Glycogenosis type 7
- Tarui disease
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the genitourinary system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Glycogen storage disease due to muscle phosphofructokinase deficiency

Very frequent
- Anaemia
- Autosomal recessive inheritance
- Metabolic anomalies
- Myotonia

Frequent
- Hyperuricemia
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy



Autosomal recessive distal renal tubular acidosis without deafness

(no data available)