mucopolysaccharidosis type 4A
Findings
No curated finding names mucopolysaccharidosis type 4A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
Definition from the Mondo Disease Ontology (MONDO:0009659), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anterior beaking of lumbar vertebraeHPOHP:0008430
- 1 of 1 reported patient
- BronchoconstrictionHPOHP:4000007
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Disproportionate short-trunk short statureHPOHP:0003521
- 1 of 1 reported patient
- Dysostosis multiplexHPOHP:0000943
- 1 of 1 reported patient
- Genu valgumHPOHP:0002857
- 1 of 1 reported patient
- Lumbar kyphosisHPOHP:0008454
Show the remaining 3
- Waddling gaitHPOHP:0002515
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 0 of 1 reported patient
- Large elbowHPOHP:0030865
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GALNSHGNC:4122
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: mucopolysaccharidosis type 4A
- Also called
- galactosamine-6-sulfatase deficiencyGALNS deficiencyMorquio disease type AMorquio syndrome AMPS IV AMPS4AMPSIVAmucopolysaccharidosis type IVAN-acetylgalactosamine-6-sulfate sulfatase deficiency