ORPHA:79270
Sanfilippo syndrome type B
Synonyms: MPS3B · MPSIIIB · Mucopolysaccharidosis type 3B · Mucopolysaccharidosis type IIIB · N-acetyl-alpha-glucosaminidase deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Mucopolysaccharidosis type 3
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sanfilippo syndrome type B | MPS3B · MPSIIIB · Mucopolysaccharidosis type 3B · Mucopolysaccharidosis type IIIB · N-acetyl-alpha-glucosaminidase deficiency |
| fr | Maladie de Sanfilippo type B | Déficit en N-acétyl-alpha-glucosaminidase · MPS3B · MPSIIIB · Mucopolysaccharidose type 3B · Mucopolysaccharidose type IIIB |
| de | Sanfilippo-Krankheit Typ B | MPS3B · MPSIIIB · Mukopolysaccharidose Typ 3B · Mukopolysaccharidose Typ IIIB · N-Acetyl-Alpha-Glucosaminidase-Mangel |
| es | Síndrome de Sanfilippo tipo B | Deficiencia de N-acetil-alfa-glucosaminidasa · MPS3B · MPSIIIB · Mucopolisacaridosis tipo 3B · Mucopolisacaridosis tipo IIIB |
| it | Sindrome di Sanfilippo, tipo B | Deficit di N-acetil-alfa-glucosaminidasi · MPS3B · MPSIIIB · Mucopolisaccaridosi, tipo 3B · Mucopolisaccaridosi, tipo IIIB |
| nl | Syndroom van Sanfilippo type B | MPS3B · MPSIIIB · Mucopolysacharidose type 3B · Mucopolysacharidose type IIIB · N-acetyl-alfa-glucosaminidasedeficiëntie |
| pt | Síndrome Sanfilippo tipo B (Mucopolissacaridose tipo 3B) | |
| pl | Zespół Sanfilippo typu B | MPS3B · MPSIIIB · Mukopolisacharydoza typu 3B · Mukopolisacharydoza typu IIIB · Niedobór N-acetylo-alfa-glukozoaminidazy |
| cs | Sanfilippův syndrom, typ B | MPS3B · MPSIIIB · Mukopolysacharidóza, typ 3B · Mukopolysacharidóza, typ IIIB · Deficit N-acetyl-alfa-glukosaminidázy |
| uk | Синдром Санфіліппо, тип В | MPS3B · MPSIIIB · Мукополісахаридоз типу 3B · Мукополісахаридоз типу IIIB · Дефіцит N-ацетил-альфа-глюкозамінідази |
| zh | Sanfilippo综合征B型 | N-乙酰-α-氨基葡萄糖苷酶缺乏症 |
| tr | Sanfilippo sendromu tip B | MPS3B · MPSIIIB · Mukopolisakkaridoz tip 3B · Mukopolisakkaridoz tip IIIB · N-asetil-alfa-glukozaminidaz eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252920 | E | validated | |
| ICD-10 | E76.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.3Y | NTBT | index | validated |
| MONDO | 0009656 | E | validated | |
| UMLS | C0086648 | E | validated | |
| GARD | 7072 | 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 (1):
- ORPHA:581Mucopolysaccharidosis type 3
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare bone diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NAGLU | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7632 | ENSG00000108784 | 609701 | 17q21.2 | N-acetyl-alpha-glucosaminidase | 16151907[PMID] |
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2013[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.42 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.72 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.47 / 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 | 20490927[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.05 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.014 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.05 / 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
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79270
- This record as JSON: /data/d/79270.json