Details of Disease | DrugMAP

General Information of Disease (ID: DISIJZ2R)

Disease Name	Citrin deficiency
Synonyms	citrin deficiency
Definition	Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).
Disease Hierarchy	DISKD7HM: Urea cycle disorder or inherited hyperammonemia DISX1GZ8: Citrullinemia DISIJZ2R: Citrin deficiency
Disease Identifiers	MONDO ID MONDO_0016602 UMLS CUI C1997910 MedGen ID 372684 Orphanet ID 247582 SNOMED CT ID 429735007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC10A1	TTWZRY5	moderate	Altered Expression	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A13	DTDSYAQ	moderate	Genetic Variation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GPD2	OTV232Y7	Strong	Biomarker	[3]
SLC25A13	OTTZVSK6	Definitive	Autosomal recessive	[4]
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References

1	Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases.Front Genet. 2019 Nov 7;10:1108. doi: 10.3389/fgene.2019.01108. eCollection 2019.
2	Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):157-163. doi: 10.1515/jpem-2019-0377.
3	Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency.Mol Genet Metab. 2012 Nov;107(3):322-9. doi: 10.1016/j.ymgme.2012.07.021. Epub 2012 Aug 2.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.