mucopolysaccharidosis, type 10
MONDO:0030524Mondo
Findings
No curated finding names mucopolysaccharidosis, type 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
25 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.
- Beaking of vertebral bodiesHPOHP:0004568
- 4 of 4 reported patients
- Broad clavicleHPOHP:0000916
- 4 of 4 reported patients
- Broad ribsHPOHP:0000885
- 4 of 4 reported patients
- Coarse facial featuresHPOHP:0000280
- 4 of 4 reported patients
- Dermatan sulfate excretion in urineHPOHP:0008301
- 4 of 4 reported patients
- Disproportionate short-trunk short statureHPOHP:0003521
- 4 of 4 reported patients
- Genu valgumHPOHP:0002857
- 4 of 4 reported patients
- Hip dysplasiaHPOHP:0001385
- 4 of 4 reported patients
- PlatyspondylyHPOHP:0000926
- 4 of 4 reported patients
- Posterior scalloping of vertebral bodiesHPOHP:0005121
- 4 of 4 reported patients
- Spatulate ribsHPOHP:0012307
- 4 of 4 reported patients
- ScoliosisHPOHP:0002650
- 3 of 4 reported patients
Show the remaining 13
- Aortic regurgitationHPOHP:0001659
- 2 of 4 reported patients
- Aortic valve stenosisHPOHP:0001650
- 2 of 4 reported patients
- HyperlordosisHPOHP:0003307
- 2 of 4 reported patients
- Long philtrumHPOHP:0000343
- 2 of 4 reported patients
- Open biteHPOHP:0010807
- 2 of 4 reported patients
- Thickened aortic valve cuspHPOHP:0031568
- 2 of 4 reported patients
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.
- ARSKHGNC:25239
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: mucopolysaccharidosis, type 10
- Also called
- MPS10