sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
MONDO:0009643Mondo
Findings
No curated finding names sulfite oxidase deficiency due to molybdenum cofactor deficiency type A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MOCS1HGNC:7190
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
- Also called
- combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type AMOCOD type AMOCODAmolybdenum cofactor deficiency Amolybdenum cofactor deficiency, complementation group type a