ORPHA:584
Mucopolysaccharidosis type 7
Synonyms: Beta-glucuronidase deficiency · MPS7 · MPSVII · Mucopolysaccharidosis type VII · Sly disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 7 | Beta-glucuronidase deficiency · MPS7 · MPSVII · Mucopolysaccharidosis type VII · Sly disease |
| fr | Mucopolysaccharidose type 7 | Déficit en bêta-glucuronidase · MPS7 · MPSVII · Maladie de Sly · Mucopolysaccharidose type VII |
| de | Mukopolysaccharidose Typ 7 | Beta-Glucuronidasemangel · MPS7 · MPSVII · Mukopolysaccharidose Typ VII · Sly-Krankheit |
| es | Mucopolisacaridosis tipo 7 | Deficiencia de beta-glucoronidasa · Enfermedad de Sly · MPS7 · MPSVII · Mucopolisacaridosis tipo VII |
| it | Mucopolisaccaridosi, tipo 7 | Deficit di beta-glucuronidasi · MPS7 · MPSVII · Malattia di Sly · Mucopolisaccaridosi, tipo VII |
| nl | Mucopolysacharidose type 7 | Bèta-glucuronidasedeficiëntie · MPS7 · MPSVII · Mucopolysacharidose type VII · Ziekte van Sly |
| pt | Mucopolisacaridose tipo 7 | Deficiência de beta-glucuronidase · Doença de Sly |
| pl | Mukopolisacharydoza typu 7 | Choroba Sly · MPS7 · MPSVII · Mukopolisacharydoza typu VII · Niedobór beta-glukuronidazy |
| cs | Mukopolysacharidóza, typ 7 | Deficit beta-glukuronidázy · MPS7 · MPSVII · Mukopolysacharidóza, typ VII · Slyova choroba |
| uk | Мукополісахаридоз, тип 7 | Дефіцит бета-глюкуронідази · MPS7 · MPSVII · Мукополісахаридоз VII типу · Хвороба Слая |
| zh | 粘多糖贮积症7型 | β-葡糖醛酸糖苷酶缺乏症 |
| tr | Mukopolisakkaridoz tip 7 | MPS7 · MPSVII · Sly hastalığı · Beta-glukuronidaz eksikliği · Mukopolisakkaridoz tip VII |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253220 | E | validated | |
| ICD-10 | E76.2 | NTBT | inclusion | validated |
| ICD-11 | 5C56.3Y | NTBT | index | validated |
| MONDO | 0009662 | E | validated | |
| MeSH | D016538 | E | validated | |
| UMLS | C0085132 | E | validated | |
| GARD | 7096 | E | validated | |
| MedDRA | 10056893 | 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 (3):
- 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GUSB | Disease-causing germline mutation(s) in | Assessed | HGNC:4696 | ENSG00000169919 | 611499 | 7q11.21 | glucuronidase beta | 19224584[PMID] |
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Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.01 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2012[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.24 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.02 / 100 000 | Brazil | Value and class | Validated | 31926052[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.02 / 100 000 | Japan | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.038 / 100 000 | Switzerland | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.047 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.02 / 100 000 | Czech Republic | Value and class | Validated | 25060283[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.007 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.027 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 / 100 000 | Canada | Value and class | Validated | 28595941[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.
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HPO phenotypes
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002103 | Abnormality of the pleura | |
| HP:0004607 | Anterior beaking of lower thoracic vertebrae | |
| HP:0008430 | Anterior beaking of lumbar vertebrae | |
| HP:0001541 | Ascites | |
| HP:0000280 | Coarse facial features | |
| HP:0007957 | Corneal opacity | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0012368 | Flat face | |
| HP:0000023 | Inguinal hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0001004 | Lymphedema | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002650 | Scoliosis | |
| HP:0001537 | Umbilical hernia | |
| Frequent (79-30%) | ||
| HP:0003272 | Abnormality of the hip bone | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0012115 | Hepatitis | |
| HP:0001789 | Hydrops fetalis | |
| HP:0001252 | Hypotonia | |
| HP:0001387 | Joint stiffness | |
| HP:0001840 | Metatarsus adductus | |
| HP:0008155 | Mucopolysacchariduria | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0100026 | Arteriovenous malformation | |
| HP:0100625 | Enlarged thorax | |
| HP:0000470 | Short neck | |
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/584
- This record as JSON: /data/d/584.json