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ORPHA:580

Mucopolysaccharidosis type 2

medium confidenceDisorder

Also known as: Hunter syndrome · Iduronate 2-sulfatase deficiency · MPS2 · MPSII · Mucopolysaccharidosis type II

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

6,062

97th percentile

Trials

37

Interventional, condition-specific

Researchers

1,167

Distinct authors in sample

Gene link

IDS

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A lysosomal storage disease with multisystemic involvement 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 form with neurodegeneration to an attenuated form without neuronal involvement.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (18)

Hunter's syndrome · I2S deficiency · IDS deficiency · MPS 2 · MPS II · MPS with skin involvement · Mucopolysaccharidosis Type II · SIDS deficiency · attenuated MPS (subtype; formerly known as mild MPS II) · iduronate 2-sulfatase deficiency · mucopolysaccharidosis II, X-linked recessive · mucopolysaccharidosis type 2 · mucopolysaccharidosis type II · mucopolysaccharidosis with skin involvement · mucopolysaccharidosis, type 2 · mucopolysaccharidosis, type II · severe MPS II · sulfoiduronate sulfatase deficiency

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — IDS

  2. LiteraturePresent

    6,062 matched papers (3,931 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    37 matched on ClinicalTrials.gov (5 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (IDS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

6,062

6,062 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

6,062 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

3,931 in the last 10 years · medium confidence · 97th percentile (publications denominator)

Phrase hits: 6,062 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,167

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Giugliani R11 papers · 2026

    Department of Genetics/UFRGS, Medical Genetics Service/HCPA, INAGEMP, DASA Genomica and Casa dos Raros, Porto Alegre, Brazil.

    Papers in Europe PMC
  2. 02
    Muenzer J10 papers · 2026

    University of North Carolina at Chapel Hill Chapel Hill North Carolina USA.

    Papers in Europe PMC
  3. 03
    Burton BK8 papers · 2026

    Ann & Robert H. Lurie Children's Hospital of Chicago Northwestern University Chicago Illinois USA.

    Papers in Europe PMC
  4. 04
    Okuyama T8 papers · 2026

    Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.

    Papers in Europe PMC
  5. 05
    Baldo G6 papers · 2025

    Programa de Pós-Graduação em Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

    Papers in Europe PMC
  6. 06
    Whiteman DAH6 papers · 2026

    Takeda Development Center Americas, Inc. Lexington Massachusetts USA.

    Papers in Europe PMC
  7. 07
    Jones SA5 papers · 2026

    St Mary's Hospital Manchester University NHS Foundation Trust, University of Manchester Manchester UK.

    Papers in Europe PMC
  8. 08
    Nakamura K5 papers · 2025

    Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.

    Papers in Europe PMC
  9. 09
    Scarpa M5 papers · 2026

    Udine University Hospital, Udine, Italy.

    Papers in Europe PMC
  10. 10
    Hong J4 papers · 2025

    National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Key Laboratory of Laparoscopic Technology of Zhejiang Province, Department of General Surgery, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People's Republic of China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

37

interventional trials for this specific condition

37 interventional trials matched this specific condition name; 5 currently recruiting in our sample. 82 trials are registered for mucopolysaccharidosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

37 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.3th percentile).

medium confidence · 96.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

37 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: mucopolysaccharidosis

82

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

19 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 3.

Group 3 — high-cost / lifelong therapy with careful selection

Up to ₹50 lakh per patient

Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.

Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Mucopolysaccharidosis type 2" OR "Hunter syndrome" OR "Iduronate 2-sulfatase deficiency" OR "MPSII" OR "Mucopolysaccharidosis type II" OR "Hunter's syndrome" OR "I2S deficiency" OR "IDS deficiency" OR "MPS 2" OR "MPS II" OR "MPS with skin involvement" OR "SIDS deficiency" OR "attenuated MPS (subtype; formerly known as mild MPS II)" OR "mucopolysaccharidosis II, X-linked recessive" OR "mucopolysaccharidosis with skin involvement" OR "mucopolysaccharidosis, type 2" OR "mucopolysaccharidosis, type II" OR "severe MPS II" OR "sulfoiduronate sulfatase deficiency"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Mucopolysaccharidosis type 2" OR "Hunter syndrome" OR "Iduronate 2-sulfatase deficiency" OR "MPSII" OR "Mucopolysaccharidosis type II" OR "Hunter's syndrome" OR "I2S deficiency" OR "IDS deficiency" OR "MPS 2" OR "MPS II" OR "MPS with skin involvement" OR "SIDS deficiency" OR "attenuated MPS (subtype; formerly known as mild MPS II)" OR "mucopolysaccharidosis II, X-linked recessive" OR "mucopolysaccharidosis with skin involvement" OR "mucopolysaccharidosis, type 2" OR "mucopolysaccharidosis, type II" OR "severe MPS II" OR "sulfoiduronate sulfatase deficiency" OR "IDS"

Recall-expansion terms: IDS

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 37 interventional · 19 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"mucopolysaccharidosis"

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MPS2

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:26:13.899Z