Hurler syndrome
Findings
No curated finding names Hurler syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
Definition from the Mondo Disease Ontology (MONDO:0011758), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
75 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.
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Calvarial hyperostosisHPOHP:0004490
- 1 of 1 reported patient · Childhood onset
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient · Infantile onset
- Very frequent (80% to 99% of cases)
- Cranial hyperostosisHPOHP:0004437
- 1 of 1 reported patient
- Dermatan sulfate excretion in urineHPOHP:0008301
- 1 of 1 reported patient
- Diminished tissue alpha-L-iduronidase activityHPOHP:6000910
- 10 of 10 reported patients
Show the remaining 63
- MacrocephalyHPOHP:0000256
- 1 of 1 reported patient
- MacroglossiaHPOHP:0000158
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Metaphyseal wideningHPOHP:0003016
- 1 of 1 reported patient
- Protuberant abdomenHPOHP:0001538
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Thick vermilion borderHPOHP:0012471
- 1 of 1 reported patient
- 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.
- IDUAHGNC:5391
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: Hurler syndrome
- Also called
- Hurler diseaseMPS I HMPS1HMPSIHmucopolysaccharidosis type 1Hmucopolysaccharidosis type IH