Mucopolysaccharidosis type 2, attenuated form
Synonyms: Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B · MPS2B · MPSIIB · Mucopolysaccharidosis type 2, non-neuropathic form · Mucopolysaccharidosis type 2, slowly progressive form · Mucopolysaccharidosis type 2B · Mucopolysaccharidosis type II, attenuated form · Mucopolysaccharidosis type IIB
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 2, attenuated form | Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B · MPS2B · MPSIIB · Mucopolysaccharidosis type 2, non-neuropathic form · Mucopolysaccharidosis type 2, slowly progressive form · Mucopolysaccharidosis type 2B · Mucopolysaccharidosis type II, attenuated form · Mucopolysaccharidosis type IIB |
| fr | Mucopolysaccharidose type 2, forme atténuée | Déficit en iduronate 2-sulfatase type B · MPS2B · MPSIIB · Maladie de Hunter type B · Mucopolysaccharidose type 2, forme sans atteinte neurologique · Mucopolysaccharidose type 2, forme à évolution lente · Mucopolysaccharidose type 2B · Mucopolysaccharidose type II, forme atténuée · Mucopolysaccharidose type IIB |
| de | Mukopolysaccharidose Typ 2, attenuierte Form | Hunter-Syndrom Typ B · Iduronat 2-Sulfatase-Mangel Typ B · MPS2B · MPSIIB · Mukopolysaccharidose 2B · Mukopolysaccharidose Typ 2, langsam fortschreitende Form · Mukopolysaccharidose Typ 2, nicht-neuropathische Form · Mukopolysaccharidose Typ II, attenuierte Form · Mukopolysaccharidose Typ IIB |
| es | Mucopolisacaridosis tipo 2, forma atenuada | Deficiencia de iduronato-2-sulfatasa tipo B · MPS2B · MPSIIB · Mucopolisacaridosis tipo 2, forma de progresión lenta · Mucopolisacaridosis tipo 2, forma no neuropática · Mucopolisacaridosis tipo 2B · Mucopolisacaridosis tipo II, forma atenuada · Mucopolisacaridosis tipo IIB · Síndrome de Hunter tipo B |
| it | Mucopolisaccaridosi tipo 2, forma attenuata | Mucopolisaccaridosi tipo IIB · Mucopolisaccaridosi tipo 2B · Mucopolisaccaridosi tipo 2, forma a progressione lenta · MPS2B · MPSIIB · Mucopolisaccaridosi tipo II, forma attenuata · Deficit di iduronato 2-solfatasi tipo B · Sindrome di Hunter tipo B · Mucopolisaccaridosi tipo 2, forma non neuropatica |
| nl | Mucopolysacharidose type 2, geattenueerde vorm | Deficiëntie van iduronaat-2-sulfatase type B · MPS2B · MPSIIB · Mucopolysacharidose type 2, niet-neuropathische vorm · Mucopolysacharidose type 2, traag progressieve vorm · Mucopolysacharidose type II, geattenueerde vorm · Mucopolysacharidose type IIB · Syndroom van Hunter type B |
| pt | Mucopolissacaridose tipo 2B | |
| pl | Mukopolisacharydoza typu 2, postać poronna | MPS2B · MPSIIB · Mukopolisacharydoza typu 2B · Mukopolisacharydoza typu II, postać poronna · Mukopolisacharydoza typu IIB · Niedobór 2-sulfatazy iduronianu typu B · Zespół Huntera typu B |
| cs | Mukopolysacharidóza, typ 2, mírná forma | Deficit iduronát-2-sulfatázy, typ B · MPS2B · MPSIIB · Mukopolysacharidóza, typ 2B · Mukopolysacharidóza, typ IIB · Hunterův syndrom, typ B · Mukopolysacharidóza, typ II, mírnější forma |
| uk | Мукополісахаридоз, тип 2, легка форма | Синдром Хантера, тип В · Дефіцит ідуронат-2-сульфатази типу В · MPS2B · MPSIIB · Мукополісахаридоз типу 2B · Мукополісахаридоз II типу, полегшена форма · Мукополісахаридоз типу IIB |
| zh | 轻型黏多糖贮积症II型 | 轻型黏多糖贮积症II型 |
| tr | Mukopolisakkaridoz tip 2, zayıflatılmış form | MPS2B · MPSIIB · Hunter sendromu tip B · Mukopolisakkaridoz tip 2B · Mukopolisakkaridoz tip IIB · İduronat 2-sülfataz eksikliği tip B · Mukopolisakkaridoz tip II, zayıflatılmış form |
Definition in:
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 | 0016316 | E | validated | |
| UMLS | C5679815 | 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 (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.
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 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217093
- This record as JSON: /data/d/217093.json