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Acute neonatal citrullinemia type I
1 associated gene
29 connected diseases
No signs/symptoms info
Disease Type of connection
Adult-onset citrullinemia type I
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Leigh syndrome with nephrotic syndrome
Pyruvate dehydrogenase E3 deficiency
Budd-Chiari syndrome
Constitutional mismatch repair deficiency syndrome
Essential thrombocythemia
Familial thrombocytosis
Galactosialidosis
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Myelofibrosis with myeloid metaplasia
Non-polyposis Turcot syndrome
Polycythemia vera
Prolidase 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
Autosomal dominant cutis laxa
Supravalvular aortic stenosis
Williams syndrome
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Synonym(s):
- Acute neonatal citrullinemia type 1
- Classic citrullinemia type 1
- Classic citrullinemia type I
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
ASS1 P00966603470
No signs/symptoms info available.