mucopolysaccharidosis type 2
Findings
No curated finding names mucopolysaccharidosis type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.
Definition from the Mondo Disease Ontology (MONDO:0010674), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
83 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.
- Decreased iduronate sulfatase levelHPOHP:0034203
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Thick lower lip vermilionHPOHP:0000179
- 1 of 1 reported patient
- Urinary glycosaminoglycan excretionHPOHP:0003541
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 137 of 142 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 71
- Flexion contractureHPOHP:0001371
- 74 of 109 reported patients
- Abnormal heart valve morphologyHPOHP:0001654
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Chronic diarrheaHPOHP:0002028
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
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.
- IDSHGNC:5389
- Definitive · ClinGen · X-linked · 2018
- Definitive · Myriad Women's Health · X-linked · 2018
- Definitive · G2P · X-linked · 2023
- Definitive · Natera · X-linked recessive · 2023
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2019
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
19 names
Resolves to: mucopolysaccharidosis type 2
- Also called
- attenuated MPS (subtype; formerly known as mild MPS II)Hunter syndromeHunter's syndromeI2S deficiencyIDS deficiencyiduronate 2-sulfatase deficiencyMPS 2MPS IIMPS with skin involvementMPS2MPSIImucopolysaccharidosis II, X-linked recessiveMucopolysaccharidosis Type IImucopolysaccharidosis with skin involvementmucopolysaccharidosis, type 2mucopolysaccharidosis, type II