Citrullinemia: genes and variants

Genes linked to Citrullinemia

• ASS1: Argininosuccinate synthase

  It catalyzes formation of argininosuccinate from citrulline and aspartate in the urea cycle, enabling nitrogen disposal and arginine synthesis. Biallelic loss-of-function variants cause citrullinemia type I, which can lead to severe hyperammonemia.

  69 disease-causing and 128 uncertain variants in ASS1 are linked to Citrullinemia.

Known disease-causing variants in Citrullinemia

Showing 60 of 69.

Uncertain variants in Citrullinemia that look disease-causing

Diseases related to Citrullinemia

• Cardiac arrhythmia, also linked to ASS1
• Glycogen storage disease due to glucose-6-phosphatase deficiency, also linked to ASS1

Frequently asked questions

Which genes are linked to Citrullinemia?

In CATVariant, Citrullinemia is linked to 1 analyzed protein: ASS1 (Argininosuccinate synthase).

How many genetic variants are linked to Citrullinemia?

231 variants: 69 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 128 are of uncertain significance or have conflicting reports.

Which uncertain variants in Citrullinemia look disease-causing?

8 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example ASS1 E298G, ASS1 P285S, ASS1 W179C, ASS1 A258E and ASS1 R157H. These are leads for expert review, not diagnoses.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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