Hyaluronidase deficiency
Synonyms: MPS9 · MPSIX · Mucopolysaccharidosis type 9 · Mucopolysaccharidosis type IX
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyaluronidase deficiency | MPS9 · MPSIX · Mucopolysaccharidosis type 9 · Mucopolysaccharidosis type IX |
| fr | Déficit en hyaluronidase | MPS9 · MPSIX · Mucopolysaccharidose type 9 · Mucopolysaccharidose type IX |
| de | Hyaluronidasemangel | MPS9 · MPSIX · Mukopolysaccharidose Typ 9 · Mukopolysaccharidose Typ IX |
| es | Deficiencia de hialuronidasa | MPS9 · MPSIX · Mucopolisacaridosis tipo 9 · Mucopolisacaridosis tipo IX |
| it | Deficit di ialuronidasi | MPS9 · MPSIX · Mucopolisaccaridosi, tipo 9 · Mucopolisaccaridosi, tipo IX |
| nl | Hyaluronidasedeficiëntie | MPS9 · MPSIX · Mucopolysacharidose type 9 · Mucopolysacharidose type IX |
| pt | Deficiência de hialuronidase | MPS9 · Mucopolissacaridose tipo 9 |
| pl | Niedobór hialuronidazy | MPS9 · MPSIX · Mukopolisacharydoza typu 9 · Mukopolisacharydoza typu IX |
| cs | Deficit hyaluronidázy | MPS9 · MPSIX · Mukopolysacharidóza, typ 9 · Mukopolysacharidóza IX. typu |
| uk | Дефіцит гіалуронідази | MPS9 · MPSIX · Мукополісахаридоз типу 9 · Мукополісахаридоз IX типу |
| zh | 透明质酸酶缺乏症 | 粘多糖贮积症IX型 |
| tr | Hyaluronidaz eksikliği | MPS9 · MPSIX · Mukopolisakkaridoz tip 9 · Mukopolisakkaridoz tip IX |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601492 | E | validated | |
| ICD-10 | E76.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.3Y | NTBT | index | validated |
| MONDO | 0011093 | E | validated | |
| MeSH | C563209 | E | validated | |
| UMLS | C1291490 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases - ORPHA:79213Mucopolysaccharidosis
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders; rare bone diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HYAL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5320 | ENSG00000114378 | 607071 | 3p21.31 | hyaluronidase 1 | 10339581[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003170 | Abnormality of the acetabulum | |
| HP:0004322 | Short stature | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/67041
- This record as JSON: /data/d/67041.json