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Phosphoserine aminotransferase deficiency
1 OMIM reference -
1 associated gene
17 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Lesch-Nyhan syndrome
Muscular dystrophy, Selcen type
Purine nucleoside phosphorylase deficiency
Recurrent infection due to specific granule deficiency
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Familial leiomyomatosis
Fumaric aciduria
Solitary fibrous tumor
Transaldolase deficiency
Synonym(s):
- PSAT deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PSAT1 Q9Y617610936
No signs/symptoms info available.