mucopolysaccharidosis type IIIC

Term ID

DOID:0111393

Synonyms

• Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
• Heparan-alpha-glucosaminide N-acetyltransferase deficiency
• HGSNAT deficiency
• MPS3C
• MPSIIIC
• Mucopolysaccharidosis type 3C
• mucopolysaccharidosis type IIIC (Sanfilippo C)
• Sanfilippo syndrome type C

Definition

A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. https://www.ncbi.nlm.nih.gov/pubmed/16960811

References

• GARD:7073
• ICD10CM:E76.22
• MESH:D009084
• NCI:C84899
• OMIM:252930
• ORDO:79271
• SNOMEDCT_US_2023_03_01:75238000
• UMLS_CUI:C0086649

Ontology

Human Disease   ( DOID:0111393 )