mucopolysaccharidosis type 4B
Findings
No curated finding names mucopolysaccharidosis type 4B 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 beta galactosidase. It is characterized by skeletal dysplasia and short stature.
Definition from the Mondo Disease Ontology (MONDO:0009660), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 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.
- Coarse facial featuresHPOHP:0000280
- 6 of 9 reported patients
- Dysostosis multiplexHPOHP:0000943
- 6 of 9 reported patients
- Mitral regurgitationHPOHP:0001653
- 5 of 9 reported patients
- Chondroitin sulfate excretion in urineHPOHP:0012070
- 4 of 9 reported patients
- Hypoplasia of the capital femoral epiphysisHPOHP:0003090
- 4 of 9 reported patients
- Corneal opacityHPOHP:0007957
- 3 of 9 reported patients
- KyphosisHPO
Show the remaining 5
- Thin corpus callosumHPOHP:0033725
- 2 of 9 reported patients
- Joint stiffnessHPOHP:0001387
- 1 of 9 reported patients
- ScoliosisHPOHP:0002650
- 1 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 9 reported patients
- Decreased beta-galactosidase activityHPOHP:0008166
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.
- GLB1HGNC:4298
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: mucopolysaccharidosis type 4B
- Also called
- Beta-D-galactosidase deficiencyMorquio disease type BMorquio syndrome BMPS 4BMPS IV BMPS4BMPSIVBmucopolysaccharidosis type IVB