Orphanet: Sanfilippo syndrome type C
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Sanfilippo syndrome type C

ORPHA:79271

Classification level: Subtype of disorder
  • Synonym(s):
    • HGSNAT deficiency
    • Heparan-alpha-glucosaminide N-acetyltransferase deficiency
    • MPS3C
    • MPSIIIC
    • Mucopolysaccharidosis type 3C
    • Mucopolysaccharidosis type IIIC
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E76.2
  • OMIM: 252930
  • UMLS: C0086649
  • MeSH: -
  • GARD: 7073
  • MedDRA: -

Summary

This disease is described under Mucopolysaccharidosis type 3

Detailed information

Article for general public

Professionals

Additional information

Further information on this disease

Health care resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.