mucopolysaccharidosis IVA

Term ID

DOID:0111391

Synonyms

• GALNS deficiency
• MPS IVA
• MPS4A

Definition

A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. (2)

References

• GARD:3785
• ICD10CM:E76.210
• MESH:D009085
• NCI:C84901
• OMIM:253000
• ORDO:309297
• SNOMEDCT_US_2023_03_01:7259005
• UMLS_CUI:C0086651

Ontology

Human Disease   ( DOID:0111391 )