Mucopolysaccharidosis type 2, severe form

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Mucopolysaccharidosis type 2, severe form

ORPHA:217085Clinical subtype

Also called Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A · MPS2A · MPSIIA · Mucopolysaccharidosis type 2, early progressive form · Mucopolysaccharidosis type 2, neuropathic form · Mucopolysaccharidosis type 2A · Mucopolysaccharidosis type II, severe form · Mucopolysaccharidosis type IIA

What it is

Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

Key facts

Prevalence
1-9 / 1 000 000 (at birth, Europe)
Age of onset
Childhood
Inheritance
X-linked recessive
Classified as
Clinical subtype

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

IDSDisease-causing germline mutation(s)

ICD-10 codes

E76.1filed under a broader ICD-10 category — shared with 2 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0016315OMIM 309900UMLS C0342841

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.