ORPHA:583
Mucopolysaccharidosis type 6
Synonyms: ARSB deficiency · ASB deficiency · Arylsulfatase B deficiency · MPS6 · MPSVI · Maroteaux-Lamy disease · Mucopolysaccharidosis type VI · N-acetylgalactosamine 4-sulfatase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare lysosomal storage disease characterized by a wide spectrum of manifestations, notably skeletal dysplasia including short stature, dysostosis multiplex and degenerative joint disease, with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate and chondroitin-4-sulfate.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 6 | ARSB deficiency · ASB deficiency · Arylsulfatase B deficiency · MPS6 · MPSVI · Maroteaux-Lamy disease · Mucopolysaccharidosis type VI · N-acetylgalactosamine 4-sulfatase deficiency |
| fr | Mucopolysaccharidose type 6 | Déficit en ARBS · Déficit en ASB · Déficit en arylsulfatase B · MPS6 · MPSVI · Maladie de Maroteaux-Lamy · Mucopolysaccharidose type VI |
| de | Mukopolysaccharidose Typ 6 | ARSB-Mangel · ASB-Mangel · Arylsulfatase B-Mangel · MPS6 · MPSVI · Maroteaux-Lamy-Syndrom · Mukopolysaccharidose VI · N-Acetylgalactosamin 4-Sulfatase-Mangel |
| es | Mucopolisacaridosis tipo 6 | Deficiencia de ARSB · Deficiencia de ASB · Deficiencia de N-acetilgalactosamina 4-sulfatasa · Deficiencia de arilsulfatasa B · Enfermedad de Maroteaux-Lamy · MPS6 · MPSVI · Mucopolisacaridosis tipo VI |
| it | Mucopolisaccaridosi, tipo 6 | Deficit di ARSB · Deficit di ASB · Deficit di N-acetilgalattosamina 4-sulfatasi · Deficit di arilsulfatasi B · MPS6 · MPSVI · Mucopolisaccaridosi, tipo VI · Sindrome di Maroteaux-Lamy |
| nl | Mucopolysacharidose type 6 | ARSB-deficiëntie · ASB-deficiëntie · Arylsulfatase B-deficiëntie · MPS6 · MPSVI · Mucopolysacharidose type VI · N-acetylgalactosamine-4-sulfatasedeficiëntie · Ziekte van Maroteaux-Lamy |
| pt | Mucopolissacaridose tipo 6 | MPS6 |
| pl | Mukopolisacharydoza typu 6 | Choroba Maroteaux i Lamy'ego · MPS6 · MPSVI · Mukopolisacharydoza typu VI · Niedobór 4-sulfatazy N-acetylgalaktozaminy · Niedobór ARSB · Niedobór arylosulfatazy B · Niedobór ASB |
| cs | Mukopolysacharidóza, typ 6 | Deficit ARSB · Deficit ASB · Deficit arylsulfatázy B · MPS6 · MPS VI · Mukopolysacharidóza, typ VI · Deficit N-acetylgalaktosamin-4-sulfatázy · Maroteauxův-Lamyho syndrom · Maroteaux-Lamyho syndrom |
| uk | Мукополісахаридоз, тип 6 | Дефіцит ARSB · Дефіцит арилсульфатази В · Дефіцит ASB · Хвороба Марото-Ламі · MPS6 · MPSVI · Мукополісахаридоз VI типу · Дефіцит N-ацетилгалактозамін-4-сульфатази |
| zh | 粘多糖贮积症6型 | N-乙酰半乳糖胺-4-硫酸酯酶缺乏症 |
| tr | Mukopolisakkaridoz tip 6 | MPS6 · MPSVI · ASB eksikliği · ARSB eksikliği · Maroteaux-Lamy hastalığı · Arilsülfataz B eksikliği · Mukopolisakkaridoz tip VI · N-asetilgalaktozamin 4-sülfataz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253200 | E | validated | |
| ICD-10 | E76.2 | NTBT | inclusion | validated |
| ICD-11 | 5C56.33 | E | specific | validated |
| MONDO | 0009661 | E | validated | |
| MeSH | D009087 | E | validated | |
| UMLS | C0026709 | E | validated | |
| GARD | 7095 | E | validated | |
| MedDRA | 10056892 | 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 (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
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ARSB | ORPHA:276212Mucopolysaccharidosis type 6, rapidly progressing | Disease-causing germline mutation(s) in | Assessed | HGNC:714 | ENSG00000113273 | 611542 | 5q14.1 | arylsulfatase B | |
| ARSB | ORPHA:276223Mucopolysaccharidosis type 6, slowly progressing | Disease-causing germline mutation(s) in | Assessed | HGNC:714 | ENSG00000113273 | 611542 | 5q14.1 | arylsulfatase B |
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Prevalence and incidence
27 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.16 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.23 / 100 000 | Germany | Value and class | Validated | 16435194[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.42 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.23 / 100 000 | Sweden | Value and class | Validated | 18681890[PMID]_25274184[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.3 / 100 000 | Sweden | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.07 / 100 000 | Norway | Value and class | Validated | 18681890[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.2 / 100 000 | Norway | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.05 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.7 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.05 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.37 / 100 000 | Australia | Value and class | Validated | 16600651[PMID]_14608657[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Canada | Value and class | Validated | 10617747[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 / 100 000 | Taiwan, Province of China | Value and class | Validated | 19396827[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 / 100 000 | Estonia | Value and class | Validated | 22480138[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.059 / 100 000 | Colombia | Value and class | Validated | 22550061[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.16 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2001[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.3 / 100 000 | Turkey | Value and class | Validated | 16435194[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.28 / 100 000 | Brazil | Value and class | Validated | 31926052[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.0132 / 100 000 | Poland | Value and class | Validated | 25472774[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.85 / 100 000 | Saudi Arabia | Value and class | Validated | 20622343[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.03 / 100 000 | Japan | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.11 / 100 000 | Switzerland | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Tunisia | Value and class | Validated | 20209839[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.019 / 100 000 | Korea, Republic of | Value and class | Validated | 25364648[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.04 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.011 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000389 | Chronic otitis media | |
| HP:0000280 | Coarse facial features | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0001508 | Failure to thrive | |
| HP:0001387 | Joint stiffness | |
| HP:0008155 | Mucopolysacchariduria | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0000246 | Sinusitis | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0009928 | Thick nasal alae | |
| Frequent (79-30%) | ||
| HP:0000885 | Broad ribs | |
| HP:0002857 | Genu valgum | |
| HP:0000365 | Hearing impairment | |
| HP:0100790 | Hernia | |
| HP:0002808 | Kyphosis | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0000470 | Short neck | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0100543 | Cognitive impairment | |
| HP:0000158 | Macroglossia | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/583
- This record as JSON: /data/d/583.json