ORPHA:309297
Mucopolysaccharidosis type 4A
Synonyms: GALNS deficiency · Galactosamine-6-sulfatase deficiency · MPS4A · MPSIVA · Morquio disease type A · Mucopolysaccharidosis type IVA · N-acetylgalactosamine-6-sulfate sulfatase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
This disease is described under Mucopolysaccharidosis type 4
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 4A | GALNS deficiency · Galactosamine-6-sulfatase deficiency · MPS4A · MPSIVA · Morquio disease type A · Mucopolysaccharidosis type IVA · N-acetylgalactosamine-6-sulfate sulfatase deficiency |
| fr | Mucopolysaccharidose type 4A | Déficit en GALNS · Déficit en N-acetylgalactosamine-6-sulfate sulfatase · Déficit en galactosamine-6-sulfatase · MPS4A · Maladie de Morquio type A · Mucopolysaccharidose type IVA |
| de | Mukopolysaccharidose Typ 4A | Galaktosamin-6-Sulfatase-Mangel · MPS4A · MPSIVA · Morquio-Krankheit Typ A · Mukopolysaccharidose Typ IVA · N-Acetyl-Glukosamin-6-Sulfatsulfatase-Mangel · GALNS-Mangel |
| es | Mucopolisacaridosis tipo 4A | Deficiencia de GALNS · Deficiencia de N-acetilgalactosamina-6-sulfato sulfatasa · Deficiencia de galactosamina-6-sulfatasa · Enfermedad de Morquio tipo A · MPS4A · MPSIVA · Mucopolisacaridosis tipo IVA |
| it | Mucopolisaccaridosi, tipo 4A | Deficit di GALNS · Deficit di N-acetilgalattosamina-6-solfato solfatasi · Deficit di galattosamina-6-solfatasi · MPS4A · MPSIVA · Malattia di Morquio, tipo A · Mucopolisaccaridosi, tipo IVA |
| nl | Mucopolysacharidose type 4A | Mucopolysacharidose type IVA · N-acetylgalactosamine-6-sulfaatsulfatasedeficiëntie · Ziekte van Morquio type A · GALNS-deficiëntie · Galactosamine-6-sulfatasedeficiëntie · MPS4A · MPSIVA |
| pt | Mucopolissacaridose tipo 4A | |
| pl | Mukopolisacharydoza typu 4A | Choroba Morquio typu A · MPS4A · MPSIVA · Mukopolisacharydoza typu IVA · Niedobór galaktozamino-6-sulfatazy · Niedobór GALNS · Niedobór sulfatazy N-acetylgalaktozamino-6-siarczanu |
| cs | Mukopolysacharidóza, typ 4A | Deficit GALNS · Deficit galaktosamin-6-sulfatázy · MPS4A · MPSIVA · Morquiova nemoc, typ A · Mukopolysacharidóza typ IVA · Deficit N-acetylgalaktosamin-6-sulfát sulfatázy |
| uk | Мукополісахаридоз, тип 4А | Дефіцит галактозамін-6-сульфатази · Дефіцит GALNS · Хвороба Моркіо, тип А · MPS4A · MPSIVA · Мукополісахаридоз типу IVA · Дефіцит N-ацетилгалактозамін-6-сульфатсульфатази |
| zh | 黏多糖贮积症4A型 | N-乙酰半乳糖胺-6-硫酸盐硫酸酯酶缺乏 |
| tr | Mukopolisakkaridoz tip 4A | MPS4A · MPSIVA · GALNS eksikliği · Morquio hastalığı tip A · Mukopolisakkaridoz tip IVA · Galaktozamin-6-sülfataz eksikliği · N-asetilgalaktozamin-6-sülfat sülfataz eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253000 | E | validated | |
| ICD-10 | E76.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.32 | NTBT | index | validated |
| MONDO | 0009659 | E | validated | |
| UMLS | C0086651 | E | validated | |
| GARD | 3785 | 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:582Mucopolysaccharidosis type 4
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic 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 |
|---|---|---|---|---|---|---|---|---|
| GALNS | Disease-causing germline mutation(s) in | Assessed | HGNC:4122 | ENSG00000141012 | 612222 | 16q24.3 | galactosamine (N-acetyl)-6-sulfatase | 23844448[PMID] |
5
Prevalence and incidence
13 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 / 100 000 | Sweden | Value and class | Validated | 25274184[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Germany | Value and class | Validated | 16435194[PMID]_25404155[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.12 / 100 000 | Germany | Value and class | Validated | 25404155[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 100 000 | United Arab Emirates | Value and class | Validated | 23430803[PMID]_25404155[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.46 / 100 000 | United Arab Emirates | Value and class | Validated | 25404155[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.497 / 100 000 | Australia | Value and class | Validated | 9918480[PMID]_25404155[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.153 / 100 000 | Australia | Value and class | Validated | 25404155[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.48 / 100 000 | Canada | Value and class | Validated | 10617747[PMID]_25404155[PMID] |
| Point prevalence | 1-5 / 10 000 | 15 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2009[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | Canada | Value and class | Validated | 25404155[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.029 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.11 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0848 / 100 000 | Brazil | Value and class | Validated | 35209917[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/309297
- This record as JSON: /data/d/309297.json