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Citrullinemia type II
1 OMIM reference -
1 associated gene
18 connected diseases
No signs/symptoms info
Disease Type of connection
Neonatal intrahepatic cholestasis due to citrin deficiency
Isolated cytochrome C oxidase deficiency
MELAS syndrome
Maternally-inherited Leigh syndrome
Burkitt lymphoma
Congenital analbuminemia
Precursor T-cell acute lymphoblastic leukemia
CLN3 disease
CLN5 disease
Fanconi anemia
Glycogen storage disease due to liver phosphorylase kinase deficiency
Young adult-onset Parkinsonism
Fatal infantile cytochrome C oxidase deficiency
Genetic recurrent myoglobinuria
Leber hereditary optic neuropathy
Leigh syndrome with cardiomyopathy
Microphthalmia with linear skin defects syndrome
Paroxysmal non-kinesigenic dyskinesia
Synonym(s):
- Adult-onset citrin deficiency
- Adult-onset citrullinemia type 2
- CTLN2
- Citrullinemia type 2
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC25A13 Q9UJS0603859
No signs/symptoms info available.