Hyaluronidase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: HYALURONIDASE DEFICIENCY
MPS IX
MPS9
Mucopolysaccharidosis type 9
Number of Symptoms 18
OrphanetNr: 67041
OMIM Id: 601492
ICD-10: E76.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal storage disease with skeletal involvement
 -Rare bone disease
 -Rare genetic disease
Mucopolysaccharidosis
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012069) Keratan sulfate excretion in urine 3 / 7739
2
 (HPO:0002159) Heparan sulfate excretion in urine 12 / 7739
3
 (HPO:0000176) Submucous cleft hard palate 19 / 7739
4
 (HPO:0005280) Depressed nasal bridge 381 / 7739
5
 (HPO:0000193) Bifid uvula 66 / 7739
6
 (HPO:0000403) Recurrent otitis media 61 / 7739
7
 (HPO:0003170) Abnormality of the acetabulum 3 / 7739
8
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
9
 (HPO:0000951) Abnormality of the skin 147 / 7739
10
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
11
 (OMIM) Elevated plasma hyaluronan 1 / 7739
12
 (OMIM) Acetabular erosions 1 / 7739
13
 (OMIM) Generalized cutaneous swelling 1 / 7739
14
 (OMIM) Popliteal cyst 2 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Hyaluronidase deficiency 1 / 7739
17
 (OMIM) Multiple periarticular soft-tissue masses 1 / 7739
18
 (MedDRA:10023215) Joint effusion 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Natowicz et al. (1996) described the clinical, pathologic, and biochemical findings in a child with short stature and multiple periarticular soft-tissue masses who proved to have a storage disease of hyaluronan (hyaluronic acid) due to a genetic deficiency ...
Molecular genetics OMIM To determine the molecular basis of MPS IX, Triggs-Raine et al. (1999) analyzed 2 candidate genes tandemly distributed on chromosome 3p21.3 that encode proteins with homology to a sperm protein with hyaluronidase activity. These genes, HYAL1 and HYAL2 ...