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Start free with EleplanSanfilippo syndrome type C
ORPHA:79271Etiological subtype
Also called HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency · MPS3C · MPSIIIC · Mucopolysaccharidosis type 3C · Mucopolysaccharidosis type IIIC
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
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Etiological subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
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
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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