ORPHA:79269
Sanfilippo syndrome type A
Synonyms: Heparan sulfamidase deficiency · MPS3A · MPSIIIA · Mucopolysaccharidosis type 3A · Mucopolysaccharidosis type IIIA
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- 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 A | Heparan sulfamidase deficiency · MPS3A · MPSIIIA · Mucopolysaccharidosis type 3A · Mucopolysaccharidosis type IIIA |
| fr | Maladie de Sanfilippo type A | Déficit en héparane sulfamidase · MPS3A · MPSIIIA · Mucopolysaccharidose type 3A · Mucopolysaccharidose type IIIA |
| de | Sanfilippo-Krankheit Typ A | Heparan-Sulfamidase-Mangel · MPS3A · MPSIIIA · Mukopolysaccharidose Typ 3A · Mukopolysaccharidose Typ IIIA |
| es | Síndrome de Sanfilippo tipo A | Deficiencia de heparán sulfamidasa · MPS3A · MPSIIIA · Mucopolisacaridosis tipo 3A · Mucopolisacaridosis tipo IIIA |
| it | Sindrome di Sanfilippo, tipo A | Deficit di eparan-sulfamidasi · MPS3A · MPSIIIA · Mucopolisaccaridosi, tipo 3A · Mucopolisaccaridosi, tipo IIIA |
| nl | Syndroom van Sanfilippo type A | Heparaansulfamidasedeficiëntie · MPS3A · MPSIIIA · Mucopolysacharidose type 3A · Mucopolysacharidose type IIIA |
| pt | Síndrome Sanfilippo tipo A (Mucopolissacaridose tipo 3A) | |
| pl | Zespół Sanfilippo typu A | MPS3A · MPSIIIA · Mukopolisacharydoza typu 3A · Mukopolisacharydoza typu IIIA · Niedobór sulfamidazy heparanu |
| cs | Sanfilippův syndrom, typ A | Deficit heparansulfamidázy · MPS3A · MPSIIIA · Mukopolysacharidóza, typ 3A · Mukopolysacharidóza, typ IIIA |
| uk | Синдром Санфіліппо, тип А | Дефіцит гепарансульфамідази · MPS3A · MPSIIIA · Мукополісахаридоз типу 3А · Мукополісахаридоз типу IIIА |
| zh | Sanfilippo综合征A型 | 黏多糖贮积症IIIA型 |
| tr | Sanfilippo sendromu tip A | MPS3A · MPSIIIA · Mukopolisakkaridoz tip 3A · Heparan sülfamidaz eksikliği · Mukopolisakkaridoz tip IIIA |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252900 | E | validated | |
| ICD-10 | E76.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.3Y | NTBT | index | validated |
| MONDO | 0009655 | E | validated | |
| UMLS | C0086647 | E | validated | |
| GARD | 7071 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SGSH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10818 | ENSG00000181523 | 605270 | 17q25.3 | N-sulfoglucosamine sulfohydrolase | 15146460[PMID] |
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Prevalence and incidence
9 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.32 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2014[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.16 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.88 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.47 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.62 / 100 000 | Estonia | Value and class | Validated | 22480138[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.62 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.052 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.19 / 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79269
- This record as JSON: /data/d/79269.json