Cytoscape Web
Click node...

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

YWHAE
(UniProt - OMIM)
 AGXT
(UniProt - OMIM)

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


Citations in the biomedical literature:


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



Distal 17p13.3 microdeletion syndrome
Primary hyperoxaluria type 1

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3
Synonym(s):
- Glycolic aciduria
- Peroxisomal alanine-glyoxylate aminotransferase deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
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
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.