ORPHA:93476
Hurler-Scheie syndrome
Synonyms: MPS1H/S · MPSIH/S · Mucopolysaccharidosis type 1H/S · Mucopolysaccharidosis type IH/S
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hurler-Scheie syndrome | MPS1H/S · MPSIH/S · Mucopolysaccharidosis type 1H/S · Mucopolysaccharidosis type IH/S |
| fr | Syndrome de Hurler-Scheie | MPS1H/S · MPSIH/S · Mucopolysaccharidose type 1H/S · Mucopolysaccharidose type IH/S |
| de | Hurler-Scheie-Syndrom | Hurler-Scheie-Variante · MPS1H/S · MPSIH/S · Mukopolysaccharidose Typ 1H/S · Mukopolysaccharidose Typ IH/S |
| es | Síndrome de Hurler-Scheie | MPS1H/S · MPSIH/S · Mucopolisacaridosis tipo 1H/S · Mucopolisacaridosis tipo IH/S |
| it | Sindrome di Hurler-Scheie | MPS1H/S · MPSIH/S · Mucopolisaccaridosi, tipo 1H/S · Mucopolisaccaridosi, tipo IH/S |
| nl | Syndroom van Hurler-Scheie | MPS1H/S · MPSIH/S · Mucopolysacharidose type 1H/S · Mucopolysacharidose type IH/S |
| pt | Síndrome Hurler-Scheie | |
| pl | Zespół Hurler i Scheie | MPS1H/S · MPSIH/S · Mukopolisacharydoza typu 1H/S · Mukopolisacharydoza typu IH/S |
| cs | Syndrom Hurlerové-Scheieův | MPS1H/S · MPSIH/S · Mukopolysacharidóza, typ 1H/S · Mukopolysacharidóza, typ IH/S · Syndrom Hurler-Scheieův |
| uk | Синдром Гурлера-Шейє | MPS1H/S · MPSIH/S · Мукополісахаридоз типу 1H/S · Мукополісахаридоз типу IH/S |
| zh | Hurler-Scheie综合征 | 粘多糖贮积症IH/S型 |
| tr | Hurler-Scheie sendromu | MPS1H / S · MPSIH / S · Mukopolisakkaridoz tipi 1H / S · Mukopolisakkaridoz tip IH / S |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607015 | E | validated | |
| ICD-10 | E76.0 | NTBT | attributed | validated |
| ICD-11 | 5C56.30 | NTBT | index | validated |
| MONDO | 0011759 | E | validated | |
| UMLS | C0086431 | E | validated | |
| GARD | 12560 | E | validated | |
| MedDRA | 10056916 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:217581Lysosomal disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:579Mucopolysaccharidosis type 1
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 |
|---|---|---|---|---|---|---|---|---|
| IDUA | Disease-causing germline mutation(s) in | Assessed | HGNC:5391 | ENSG00000127415 | 252800 | 4p16.3 | alpha-L-iduronidase | 8680403[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.24 / 100 000 | United Kingdom | Value and class | Validated | 18796143[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0100765 | Abnormality of the tonsils | |
| HP:0000280 | Coarse facial features | |
| HP:0007957 | Corneal opacity | |
| HP:0002240 | Hepatomegaly | |
| HP:0100790 | Hernia | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0012384 | Rhinitis | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0040129 | Abnormal nerve conduction velocity | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003416 | Spinal canal stenosis | |
| Occasional (29-5%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0002230 | Generalized hirsutism | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93476
- This record as JSON: /data/d/93476.json