ORPHA:79213
Mucopolysaccharidosis
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis | |
| fr | Mucopolysaccharidose | |
| de | Mukopolysaccharidose | |
| es | Mucopolisacaridosis | |
| it | Mucopolisaccaridosi | |
| nl | Mucopolysacharidose | |
| pt | Mucopolissacaridose | |
| pl | Mukopolisacharydoza | |
| cs | Mukopolysacharidóza | |
| uk | Мукополісахаридоз | |
| zh | 粘多糖贮积症 | |
| tr | Mukopolisakkaridoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C56.3 | E | specific | validated |
| MONDO | 0019249 | E | validated | |
| MONDO | 19249 | E | validated | |
| MeSH | D009083 | E | validated | |
| UMLS | C0026703 | E | validated | |
| GARD | 7065 | E | validated | |
| MedDRA | 10028093 | 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 (5):
- ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:68366Lysosomal disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (8):
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
22 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.5 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.9 / 100 000 | Australia | Value and class | Validated | ORPHANET_9918480[PMID]_14608657[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.8 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.53 / 100 000 | Germany | Value and class | Validated | 16435194[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.22 / 100 000 | Sweden | Value and class | Validated | 18681890[PMID]_25274184[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.08 / 100 000 | Norway | Value and class | Validated | 18681890[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.77 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.81 / 100 000 | Poland | Value and class | Validated | 25472774[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.72 / 100 000 | Czech Republic | Value and class | Validated | 14685153[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.29 / 100 000 | Tunisia | Value and class | Validated | 20209839[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.04 / 100 000 | Taiwan, Province of China | Value and class | Validated | 19396827[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.05 / 100 000 | Estonia | Value and class | Validated | 22480138[PMID]_26586959[PMID] |
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only | Validated | ORPHANET_28595941[PMID] |
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_28595941[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.53 / 100 000 | Japan | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.56 / 100 000 | Switzerland | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.25 / 100 000 | Brazil | Value and class | Validated | 31926052[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 16.9 / 100 000 | Saudi Arabia | Value and class | Validated | 20626343[PMID]_28595941[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.35 / 100 000 | Korea, Republic of | Value and class | Validated | 25364648[PMID]_28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.98 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.267 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.04 / 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/79213
- This record as JSON: /data/d/79213.json