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Acatalasemia
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Primary Fanconi syndrome
3 OMIM references -
2 associated genes
No signs/symptoms info
Acatalasemia
Primary Fanconi syndrome

CAT
(UniProt - OMIM)
 EHHADH
(UniProt - OMIM)
SLC34A1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CAT
(0.75)
EHHADH


Citations in the biomedical literature:


Acatalasemia
CAT
Primary Fanconi syndrome
EHHADH SLC34A1



Acatalasemia
Primary Fanconi syndrome

Synonym(s):
- Catalase deficiency
Synonym(s):
- Primary Fanconi renotubular syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references
No signs/symptoms info available.