Treatments & Interventions
Research Evidence
Peer-reviewed studies linked via MeSH term "Mucopolysaccharidosis II" from the MEDLINE/PubMed database.
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Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review.
[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2024
The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II).
[object Object], [object Object], [object Object] et al. · Int J Environ Res Public Health · 2020
Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases.
[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2019
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.
[object Object], [object Object], [object Object] et al. · Mol Genet Metab · 2018
PMID: 29801985Meta-Analysis
Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review.
[object Object], [object Object], [object Object] · Genet Med · 2017
PMID: 28640238Meta-Analysis
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
[object Object], [object Object], [object Object] et al. · Cochrane Database Syst Rev · 2016
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
[object Object], [object Object], [object Object] et al. · Cochrane Database Syst Rev · 2014
PMID: 24399699Meta-Analysis
[Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis].
[object Object], [object Object], [object Object] et al. · Cad Saude Publica · 2013
PMID: 25402250Meta-Analysis
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
[object Object], [object Object], [object Object] et al. · Cochrane Database Syst Rev · 2011
PMID: 22071845Meta-Analysis
Efficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: A phase-3, 2-part study compared with a historical placebo cohort.
[object Object], [object Object], [object Object] et al. · Genet Med · 2025
PMID: 40411345RCT
Search all PubMed articles for Mucopolysaccharidosis, MPS-II
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased iduronate sulfatase level
Always present (100%)HP:0034203
Increased height of lower lip vermilion
Always present (100%)HP:0000179
Urinary glycosaminoglycan excretion
Always present (100%)HP:0003541
Cardiac anomaly
Very frequent (80-99%)HP:0001627
Decreased body height
Very frequent (80-99%)HP:0004322
Hepatosplenomegaly
Very frequent (80-99%)HP:0001433
Increased size of skull
Very frequent (80-99%)HP:0000256
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Thickened facial skin with coarse facial features
Very frequent (80-99%)HP:0000280
Behavioral symptoms
Frequent (30-79%)HP:0000708
Chronic diarrhoea
Frequent (30-79%)HP:0002028
Chubby cheeks
Frequent (30-79%)HP:0000293
Cognitive deficits
Frequent (30-79%)HP:0100543
Contractures of the large joints
Frequent (30-79%)HP:0005781
Decreased nerve conduction velocity
Frequent (30-79%)HP:0000762
Dermatan sulphate excretion in urine
Frequent (30-79%)HP:0008301
Dysostosis multiplex
Frequent (30-79%)HP:0000943
Enlarged liver
Frequent (30-79%)HP:0002240
Flexion contracture of digit
Frequent (30-79%)HP:0030044
Flexion contractures
Frequent (30-79%)HP:0001371
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Husky voice
Frequent (30-79%)HP:0001609
Inguinal hernia
Frequent (30-79%)HP:0000023
Intellectual deterioration
Frequent (30-79%)HP:0001268
Internal-clock disorders
Frequent (30-79%)HP:0006979
Irregularity of vertebral bodies
Frequent (30-79%)HP:0004582
Large spleen
Frequent (30-79%)HP:0001744
Lingual hyperplasia
Frequent (30-79%)HP:0000158
Neurodegeneration
Frequent (30-79%)HP:0002180
Noninflammatory retina disease
Frequent (30-79%)HP:0000488
Related Conditions
Hunter's syndrome, mild form(child)
Hunter's syndrome, severe form(child)
Mucopolysaccharidosis(parent)
Digestive system hereditary disorder(parent)
Metabolic and genetic disorder affecting the liver(parent)
X-linked recessive hereditary disease(parent)
Disorder of digestive system specific to fetus OR newborn(parent)
Quick Facts
- SNOMED CT
- 70737009
- UMLS CUI
- C0026705
- Fully Specified Name
- Mucopolysaccharidosis type II (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Known Treatments
- 1
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.