mucopolysaccharidosis type 7
Findings
No curated finding names mucopolysaccharidosis type 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.
Definition from the Mondo Disease Ontology (MONDO:0009662), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Fetal onset
HPO, annotations 2026-09-02
Features
65 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.
- Accelerated skeletal maturationHPOHP:0005616
- 1 of 1 reported patient
- Diastasis rectiHPOHP:0001540
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Facial asymmetryHPOHP:0000324
- 1 of 1 reported patient
- Large iliac wingHPOHP:0008818
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Pectus excavatumHPOHP:0000767
Show the remaining 53
- Umbilical herniaHPOHP:0001537
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Urinary glycosaminoglycan excretionHPOHP:0003541
- 1 of 1 reported patient
- Dysostosis multiplexHPOHP:0000943
- 26 of 29 reported patients
- Coarse facial featuresHPOHP:0000280
- 27 of 31 reported patients
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- 26 of 30 reported patients
- Limitation of joint mobilityHPOHP:0001376
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.
- GUSBHGNC:4696
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · 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
7 names
Resolves to: mucopolysaccharidosis type 7
- Also called
- Beta-glucuronidase deficiencyMPS7MPSVIIMucopolysaccharidosis Type VIImucopolysaccharidosis, mps-VIISly diseaseSly syndrome