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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Primary hyperoxaluria type 1
Distal 17p13.3 microdeletion syndrome

AGXT YWHAE


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AGXT
(0.63)
YWHAE



Citations in the biomedical literature:


Primary hyperoxaluria type 1
AGXT
Distal 17p13.3 microdeletion syndrome
YWHAE



Primary hyperoxaluria type 1
Distal 17p13.3 microdeletion syndrome

Synonym(s):
- Glycolic aciduria
- Peroxisomal alanine-glyoxylate aminotransferase deficiency

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.