ORPHA:579
Mucopolysaccharidosis type 1
Synonyms: Alpha-L-iduronidase deficiency · MPS1 · MPSI · Mucopolysaccharidosis type I
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 1 | Alpha-L-iduronidase deficiency · MPS1 · MPSI · Mucopolysaccharidosis type I |
| fr | Mucopolysaccharidose type 1 | Déficit en alpha-L-iduronidase · MPS1 · MPSI · Mucopolysaccharidose type I |
| de | Mukopolysaccharidose Typ 1 | Alpha-L-Iduronidase-Mangel · MPS1 · MPSI · Mukopolysaccharidose Typ I |
| es | Mucopolisacaridosis tipo 1 | Deficiencia de alfa-L-iduronidasa · MPS1 · MPSI · Mucopolisacaridosis tipo I |
| it | Mucopolisaccaridosi, tipo 1 | Deficit di alfa-L-iduronidasi · MPS1 · MPSI · Mucopolisaccaridosi, tipo I |
| nl | Mucopolysacharidose type 1 | Deficiëntie van alfa-L-iduronidase · MPS1 · MPSI · Mucopolysacharidose type I |
| pt | Mucopolissacaridose tipo 1 | Deficiência de alfa-L-iduronidase · MPS1 · Síndrome Hurler · Síndrome Scheie |
| pl | Mukopolisacharydoza typu 1 | MPS1 · MPSI · Mukopolisacharydoza typu I · Niedobór alfa-L-iduronidazy |
| cs | Mukopolysacharidóza, typ 1 | Deficit alfa -L-iduronidázy · MPS1 · MPSI · Mukopolysacharidóza I. typu |
| uk | Мукополісахаридоз, тип 1 | Дефіцит альфа-L-ідуронідази · MPS1 · MPSI · Мукополісахаридоз I типу |
| zh | 粘多糖贮积症1型 | α-L-艾杜糖醛酸酶缺乏症 |
| tr | Mukopolisakkaridoz tip 1 | MPS1 · MPSI · Mukopolisakkaridoz tip I · Alfa-L-iduronidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607014 | BTNT | validated | |
| OMIM | 607015 | BTNT | validated | |
| OMIM | 607016 | BTNT | validated | |
| ICD-10 | E76.0 | E | specific | validated |
| ICD-11 | 5C56.30 | E | specific | validated |
| MONDO | 0001586 | E | validated | |
| MeSH | D008059 | E | validated | |
| UMLS | C0023786 | E | validated | |
| GARD | 10335 | E | validated | |
| MedDRA | 10056886 | 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 (4):
- ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases - ORPHA:79213Mucopolysaccharidosis
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders; rare bone diseases; rare transplant-related disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
4
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| IDUA | ORPHA:93473Hurler syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:5391 | ENSG00000127415 | 252800 | 4p16.3 | alpha-L-iduronidase | 8680403[PMID] |
| IDUA | ORPHA:93474Scheie syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:5391 | ENSG00000127415 | 252800 | 4p16.3 | alpha-L-iduronidase | 8680403[PMID] |
| IDUA | ORPHA:93476Hurler-Scheie syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:5391 | ENSG00000127415 | 252800 | 4p16.3 | alpha-L-iduronidase | 8680403[PMID] |
5
Prevalence and incidence
28 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.19 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 / 100 000 | Sweden | Value and class | Validated | 18681890[PMID]_25274184[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.7 / 100 000 | Sweden | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.85 / 100 000 | Norway | Value and class | Validated | 18681890[PMID] |
| Point prevalence | 1-5 / 10 000 | 31 / 100 000 | Norway | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.54 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.4 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.8 / 100 000 | Ireland | Value and class | Validated | 18463126[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.07 / 100 000 | United Kingdom | Value and class | Validated | 18796143[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.63 / 100 000 | Tunisia | Value and class | Validated | 20209839[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.11 / 100 000 | Taiwan, Province of China | Value and class | Validated | 19396827[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.58 / 100 000 | Canada | Value and class | Validated | 10617747[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.14 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.72 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.69 / 100 000 | Germany | Value and class | Validated | 16435194[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.33 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.82 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.23 / 100 000 | Japan | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.19 / 100 000 | Switzerland | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.22 / 100 000 | Poland | Value and class | Validated | 25472774[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.24 / 100 000 | Brazil | Value and class | Validated | 31926052[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 / 100 000 | United States | Value and class | Validated | DOI: https://doi.org/10.1016/j.ymgme.2016.11.285[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.62 / 100 000 | Saudi Arabia | Value and class | Validated | 20622343[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.21 / 100 000 | Korea, Republic of | Value and class | Validated | 25364648[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Specific population | Value and class | Validated | 33239050[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
57 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000389 | Chronic otitis media | |
| HP:0000280 | Coarse facial features | |
| HP:0007957 | Corneal opacity | |
| HP:0002230 | Generalized hirsutism | |
| HP:0100790 | Hernia | |
| HP:0000023 | Inguinal hernia | |
| HP:0001387 | Joint stiffness | |
| HP:0008155 | Mucopolysacchariduria | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0000246 | Sinusitis | |
| HP:0001744 | Splenomegaly | |
| HP:0001171 | Split hand | |
| Frequent (79-30%) | ||
| HP:0005105 | Abnormal nasal morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0100765 | Abnormality of the tonsils | |
| HP:0002104 | Apnea | |
| HP:0002829 | Arthralgia | |
| HP:0012735 | Cough | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002376 | Developmental regression | |
| HP:0000268 | Dolichocephaly | |
| HP:0100625 | Enlarged thorax | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000293 | Full cheeks | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000501 | Glaucoma | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0000294 | Low anterior hairline | |
| HP:0000256 | Macrocephaly | |
| HP:0002024 | Malabsorption | |
| HP:0000691 | Microdontia | |
| HP:0003401 | Paresthesia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000488 | Retinopathy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0009928 | Thick nasal alae | |
| HP:0000687 | Widely spaced teeth | |
| Occasional (29-5%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0100261 | Abnormal tendon morphology | |
| HP:0010885 | Avascular necrosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000238 | Hydrocephalus | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001373 | Joint dislocation | |
| HP:0000648 | Optic atrophy | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/579
- This record as JSON: /data/d/579.json