Sulfite oxidase deficiency

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Sulfite oxidase deficiency due to molybdenum cofactor deficiency

ORPHA:99732Clinical subtype

Also called Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase · MOCOD

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Clinical subtype

Recorded for the broader condition

Age of onset
Antenatal, Infancy, NeonatalEncephalopathy due to sulfite oxidase deficiency

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes reported in subtypes

GPHNMOCS1MOCS2

Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

ICD-10 codes

E72.1filed under a broader ICD-10 category — shared with 21 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 3705MESH C535811MONDO 0020480OMIM 252150OMIM 252160OMIM 615501UMLS C0268119

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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