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Glutathione synthetase deficiency without 5-oxoprolinuria
1 OMIM reference -
1 associated gene
11 connected diseases
No signs/symptoms info
Disease Type of connection
Glutathione synthetase deficiency with 5-oxoprolinuria
17p13.3 microduplication syndrome
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Disseminated superficial actinic porokeratosis
Distal 17p13.3 microdeletion syndrome
Familial isolated dilated cardiomyopathy
Hyperimmunoglobulinemia D with periodic fever
Mevalonic aciduria
Miller-Dieker syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GSS P48637601002
No signs/symptoms info available.