ORPHA:276212
Mucopolysaccharidosis type 6, rapidly progressing
Synonyms: Arylsulfatase B deficiency, rapidly progressing · MPS6, rapidly progressing · MPSVI, rapidly progressing · Mucopolysaccharidosis type VI, rapidly progressing
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Mucopolysaccharidosis type 6
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 6, rapidly progressing | Arylsulfatase B deficiency, rapidly progressing · MPS6, rapidly progressing · MPSVI, rapidly progressing · Mucopolysaccharidosis type VI, rapidly progressing |
| fr | Mucopolysaccharidose type 6, forme rapidement progressive | Déficit en arylsulfatase B, forme rapidement progressive · MPS6, forme rapidement progressive · MPSVI, forme rapidement progressive · Mucopolysaccharidose type VI, forme rapidement progressive |
| de | Mukopolysaccharidose Typ 6, rasch fortschreitend | MPSVI, rasch fortschreitend · Rasch fortschreitende Mukopolysaccharidose Typ VI · Rasch fortschreitender Arylsulfatase B-Mangel · MPS6, rasch fortschreitend |
| es | Mucopolisacaridosis tipo 6 de progresión rápida | Deficiencia de arilsulfatasa B de progresión rápida · MPS6 de progresión rápida · MPSVI de progresión rápida · Mucopolisacaridosis tipo VI de progresión rápida |
| it | Mucopolisaccaridosi tipo 6, a progressione rapida | Deficit di arilsulfatasi B, a progressione rapida · MPS6 a progressione rapida · MPSVI a progressione rapida · Mucopolisaccaridosi tipo VI, a progressione rapida |
| nl | Mucopolysacharidose type 6, snel progressief | Arylsulfatase B-deficiëntie, snel progressief · MPS6, snel progressief · MPSVI, snel progressief · Mucopolysacharidose type VI, snel progressief |
| pt | Mucopolissacaridose tipo 6 rapidamente progressiva | |
| pl | Mukopolisacharydoza typu 6, szybko postępująca | MPS6, szybko postępująca · MPSVI, szybko postępująca · Mukopolisacharydoza typu VI, szybko postępująca · Niedobór arylosulfatzy B, szybko postępujący |
| cs | Mukopolysacharidóza typ 6, rychle progredující | Deficit arylsulfatázy B, rychle progredující · MPS6, rychle progredující · MPSVI, rychle progredující · Mukopolysacharidóza, typ VI, rychle progredující |
| uk | Мукополісахаридоз, тип 6, швидко прогресуючий | Дефіцит арилсульфатази В, що швидко прогресує · MPS6, швидко розвивається · MPSVI, що швидко прогресує · Мукополісахаридоз VI типу, швидко прогресуючий |
| zh | 粘多糖贮积症6型，进展迅速 | 进展迅速的黏多糖贮积症VI型 |
| tr | Mukopolisakaridoz tip 6, hızla ilerleyen | MPS6, hızla ilerleyen · MPSVI, hızla ilerleyen · Arilsülfataz B eksikliği, hızla ilerleyen · Mukopolisakkaridoz tip VI, hızla ilerleyen |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253200 | NTBT | validated | |
| ICD-10 | E76.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.33 | NTBT | attributed | validated |
| MONDO | 0017171 | E | validated | |
| UMLS | C5679781 | 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:583Mucopolysaccharidosis type 6
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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARSB | Disease-causing germline mutation(s) in | Assessed | HGNC:714 | ENSG00000113273 | 611542 | 5q14.1 | arylsulfatase B |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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/276212
- This record as JSON: /data/d/276212.json