ORPHA:662216
Mucopolysaccharidosis type 10
Synonyms: MPS10 · MSP type X · Mucopolysaccharidosis due to ARSK deficiency · Mucopolysaccharidosis type X
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 10 | MPS10 · MSP type X · Mucopolysaccharidosis due to ARSK deficiency · Mucopolysaccharidosis type X |
| fr | Mucopolysaccharidose type 10 | MPS10 · MSP type X · Mucopolysaccharidose par déficit en ARSK · Mucopolysaccharidose type X |
| de | Mukopolysaccharidose Typ 10 | Arylsulfatase K-Defizienz · MPS10 · MSP Typ X · Mukopolysaccharidose Typ X · Mukopolysaccharidose durch ARSK-Mangel |
| es | Mucopolisacaridosis tipo 10 | MPS10 · MSP tipo X · Mucopolisacaridosis por deficiencia de ARSK · Mucopolisacaridosis tipo X |
| it | Mucopolisaccaridosi tipo 10 | Mucopolisaccaridosi dovuta a deficit di ARSK · Mucopolisaccaridosi tipo X · MSP tipo X · MPS10 |
| nl | Mucopolysacharidose type 10 | Mucopolysacharidose type X · MPS type X · MPS10 · Mucopolysacharidose door ARSK-deficiëntie |
| pt | Mucopolissacaridose tipo 10 | MPS10 · MSP tipo X · Mucopolissacaridose por deficiência de ARSK · Mucopolissacaridose tipo X |
| pl | Mukopolisacharydoza typu 10 | = en |
| cs | Mukopolysacharidóza, typ 10 | = en |
| uk | Мукополісахаридоз, тип 10 | Мукополісахаридоз типу X, MSP типу X, MPS10 Мукополісахаридоз внаслідок дефіциту ARSK |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619698 | E | validated | |
| ICD-10 | E76.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.3Y | NTBT | attributed | validated |
| MONDO | 0030524 | E | validated | |
| MONDO | 30524 | E | validated | |
| UMLS | C5925070 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- 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 - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARSK | Disease-causing germline mutation(s) in | Assessed | HGNC:25239 | ENSG00000164291 | 610011 | 5q15 | arylsulfatase family member K | 34916232[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 34916232[PMID]_35959767[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34916232[PMID]_35959767[PMID]_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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/662216
- This record as JSON: /data/d/662216.json