ORPHA:217085
Mucopolysaccharidosis type 2, severe form
Synonyms: Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A · MPS2A · MPSIIA · Mucopolysaccharidosis type 2, early progressive form · Mucopolysaccharidosis type 2, neuropathic form · Mucopolysaccharidosis type 2A · Mucopolysaccharidosis type II, severe form · Mucopolysaccharidosis type IIA
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 2, severe form | Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A · MPS2A · MPSIIA · Mucopolysaccharidosis type 2, early progressive form · Mucopolysaccharidosis type 2, neuropathic form · Mucopolysaccharidosis type 2A · Mucopolysaccharidosis type II, severe form · Mucopolysaccharidosis type IIA |
| fr | Mucopolysaccharidose type 2, forme sévère | Déficit en iduronate 2-sulfatase type A · MPS2A · MPSIIA · Maladie de Hunter type A · Mucopolysaccharidose type 2, forme avec atteinte neurologique · Mucopolysaccharidose type 2, forme à évolution rapide · Mucopolysaccharidose type 2A · Mucopolysaccharidose type II, forme sévère · Mucopolysaccharidose type IIA |
| de | Mukopolysaccharidose Typ 2, schwere Form | Hunter-Syndrom Typ A · Iduronat 2-Sulfatase-Mangel Typ A · MPS2A · MPSIIA · Mukopolysaccharidose Typ 2, frühe progressive Form · Mukopolysaccharidose Typ 2, neuropathische Form · Mukopolysaccharidose Typ 2A · Mukopolysaccharidose Typ II, schwere Form · Mukopolysaccharidose Typ IIA |
| es | Mucopolisacaridosis tipo 2, forma grave | Deficiencia de iduronato-2-sulfatasa tipo A · MPS2A · MPSIIA · Mucopolisacaridosis tipo 2, forma neuropática · Mucopolisacaridosis tipo 2, forma progresiva precoz · Mucopolisacaridosis tipo 2A · Mucopolisacaridosis tipo II, forma grave · Mucopolisacaridosis tipo IIA · Síndrome de Hunter tipo A |
| it | Mucopolisaccaridosi tipo 2, forma grave | Mucopolisaccaridosi tipo 2, forma neuropatica · Mucopolisaccaridosi tipo 2° · Mucopolisaccaridosi tipo IIA · MPS2A · MPSIIA · Mucopolisaccaridosi tipo II, forma grave · Deficit di iduronato 2-solfatasi tipo A · Sindrome di Hunter tipo A · Mucopolisaccaridosi tipo 2, forma progressiva precoce |
| nl | Mucopolysacharidose type 2, ernstige vorm | Deficiëntie van iduronaat-2-sulfatase type A · MPS2A · MPSIIA · Mucopolysacharidose type 2, neuropatische vorm · Mucopolysacharidose type 2, vroeg progressieve vorm · Mucopolysacharidose type 2A · Mucopolysacharidose type II, ernstige vorm · Mucopolysacharidose type IIA · Syndroom van Hunter type A |
| pt | Mucopolissacaridose tipo 2A | |
| pl | Mukopolisacharydoza typu 2, postać ciężka | MPS2A · MPSIIA · Mukopolisacharydoza typu 2A · Mukopolisacharydoza typu II, postać ciężka · Mukopolisacharydoza typu IIA · Niedobór 2-sulfatazy iduronianu typu A · Zespół Huntera typu A |
| cs | Mukopolysacharidóza, typ 2, těžká forma | Deficit iduronát-2-sulfatázy, typ A · MPS2A · MPSIIA · Mukopolysacharidóza, typ 2A · Mukopolysacharidóza, typ IIA · Hunterův syndrom, typ A · Mukopolysacharidóza, typ II, těžká forma |
| uk | Мукополісахаридоз, тип 2, важка форма | Синдром Хантера, тип А · Дефіцит ідуронат-2-сульфатази типу А · MPS2A · MPSIIA · Мукополісахаридоз типу 2А · Мукополісахаридоз II типу, важка форма · Мукополісахаридоз типу IIA |
| zh | 重型黏多糖贮积症II型 | 重型黏多糖贮积症II型 |
| tr | Mukopolisakkaridoz tip 2, ağır form | MPS2A · MPSIIA · Hunter sendromu tip A · Mukopolisakkaridoz tip 2A · Mukopolisakkaridoz tip IIA · İduronat 2-sülfataz eksikliği tip A · Mukopolisakkaridoz tip II, ağır form |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309900 | NTBT | validated | |
| ICD-10 | E76.1 | NTBT | attributed | validated |
| ICD-11 | 5C56.31 | NTBT | index | validated |
| MONDO | 0016315 | E | validated | |
| UMLS | C0342841 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:580Mucopolysaccharidosis type 2
rare cardiac diseases; rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare skin diseases; rare ophthalmic disorders; rare bone diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IDS | Disease-causing germline mutation(s) in | Assessed | HGNC:5389 | ENSG00000010404 | 300823 | Xq28 | iduronate 2-sulfatase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | 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.
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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/217085
- This record as JSON: /data/d/217085.json