ORPHA:79271
Sanfilippo syndrome type C
Synonyms: HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency · MPS3C · MPSIIIC · Mucopolysaccharidosis type 3C · Mucopolysaccharidosis type IIIC
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- 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 C | HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency · MPS3C · MPSIIIC · Mucopolysaccharidosis type 3C · Mucopolysaccharidosis type IIIC |
| fr | Maladie de Sanfilippo type C | MPSIIIC · Mucopolysaccharidose type 3C · Mucopolysaccharidose type IIIC · Déficit en HGSNAT · Déficit en héparane-alpha-glucosaminide N-acétyltransférase · MPS3C |
| de | Sanfilippo-Krankheit Typ C | HGSNAT-Mangel · Heparan-Alpha-Glucosaminid N-Acetyltransferase-Mangel · MPS3C · MPSIIIC · Mukopolysaccharidose Typ 3C · Mukopolysaccharidose Typ IIIC |
| es | Síndrome de Sanfilippo tipo C | Deficiencia de HGSNAT · Deficiencia de heparán-alfa-glucosaminida N-acetiltransferasa · MPS3C · MPSIIIC · Mucopolisacaridosis tipo 3C · Mucopolisacaridosis tipo IIIC |
| it | Sindrome di Sanfilippo, tipo C | Deficit di HGSNAT · Deficit di eparan-alfa-glucosaminide N-acetiltransferasi · MPS3C · MPSIIIC · Mucopolisaccaridosi, tipo 3C · Mucopolisaccaridosi, tipo IIIC |
| nl | Syndroom van Sanfilippo type C | HGSNAT-deficiëntie · Heparaan-alfa-glucosaminide-N-acetyltransferasedeficiëntie · MPS3C · MPSIIIC · Mucopolysacharidose type 3C · Mucopolysacharidose type IIIC |
| pt | Síndrome Sanfilippo tipo C (Mucopolissacaridose tipo 3C) | |
| pl | Zespół Sanfilippo typu C | MPS3C · MPSIIIC · Mukopolisacharydoza typu 3C · Mukopolisacharydoza typu IIIC · Niedobór heparan-alfa-glukozaminido N-acetylotransferazy · Niedobór HGSNAT |
| cs | Sanfilippův syndrom, typ C | Deficit HGSNAT · Deficit heparan-alfa-glukosaminid-N-acetyltransferázy · MPS3C · MPSIIIC · Mukopolysacharidóza, typ 3C · Mukopolysacharidóza, typ IIIC |
| uk | Синдром Санфіліппо, тип С | Дефіцит гепаран-альфа-глюкозамінід N-ацетилтрансферази · Дефіцит HGSNAT · MPS3C · MPSIIIC · Мукополісахаридоз типу 3С · Мукополісахаридоз типу IIIC |
| zh | Sanfilippo综合征C型 | 乙酰肝素α-氨基葡萄糖苷N-乙酰基转移酶缺乏症 |
| tr | Sanfilippo sendromu tip C | MPS3C · MPSIIIC · HGSNAT eksikliği · Mukopolisakkaridoz tip 3C · Mukopolisakkaridoz tip IIIC · Heparan-alfa-glukozaminid N-asetiltransferaz eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252930 | E | validated | |
| ICD-10 | E76.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.3Y | NTBT | index | validated |
| MONDO | 0009657 | E | validated | |
| UMLS | C0086649 | E | validated | |
| GARD | 7073 | 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 |
|---|---|---|---|---|---|---|---|---|
| HGSNAT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26527 | ENSG00000165102 | 610453 | 8p11.21-p11.1 | heparan-alpha-glucosaminide N-acetyltransferase | 17033958[PMID] |
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Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.21 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.12 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.07 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.42 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
| Point prevalence | <1 / 1 000 000 | 0.0004 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.015 / 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/79271
- This record as JSON: /data/d/79271.json