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Phosphoserine aminotransferase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Phosphoserine aminotransferase deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency

PSAT1
(UniProt - OMIM)
 HPRT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PSAT1
(0.63)
HPRT1


Citations in the biomedical literature:


Phosphoserine aminotransferase deficiency
PSAT1
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
HPRT1



Phosphoserine aminotransferase deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Synonym(s):
- PSAT deficiency
Synonym(s):
- HPRT deficiency, grade I
- HPRT partial deficiency
- HPRT-related gout
- HPRT-related hyperuricemia
- HPRT1 partial deficiency
- Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
- Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
- Kelley-Seegmiller syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.