mucopolysaccharidosis type IIIA

Term ID

DOID:0111395

Synonyms

• heparan sulfamidase deficiency
• MPS3A
• MPSIIIA
• mucopolysaccharidosis III-A
• mucopolysaccharidosis type 3A
• mucopolysaccharidosis type IIIA (Sanfilippo A)
• Sanfilippo syndrome type A

Definition

A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. (2)

References

• ICD10CM:E76.22
• MESH:D009084
• MIM:252900
• NCI:C84897
• ORDO:79269
• SNOMEDCT_US_2023_03_01:254070003
• UMLS_CUI:C0086647

Ontology

Human Disease   ( DOID:0111395 )