ORPHA:93473
Hurler syndrome
Synonyms: Hurler disease · MPS1H · MPSIH · Mucopolysaccharidosis type 1H · Mucopolysaccharidosis type IH
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hurler syndrome | Hurler disease · MPS1H · MPSIH · Mucopolysaccharidosis type 1H · Mucopolysaccharidosis type IH |
| fr | Syndrome de Hurler | MPS1H · MPSIH · Maladie de Hurler · Mucopolysaccharidose type 1H · Mucopolysaccharidose type IH |
| de | Hurler-Syndrom | Hurler-Krankheit · MPS1H · MPSIH · Mukopolysaccharidose Typ 1H · Mukopolysaccharidose Typ IH |
| es | Síndrome de Hurler | Enfermedad de Hurler · MPS1H · MPSIH · Mucopolisacaridosis tipo 1H · Mucopolisacaridosis tipo IH |
| it | Sindrome di Hurler | MPS1H · MPSIH · Malattia di Hurler · Mucopolisaccaridosi, tipo 1H · Mucopolisaccaridosi, tipo IH |
| nl | Syndroom van Hurler | MPS1H · MPSIH · Mucopolysacharidose type 1H · Mucopolysacharidose type IH · Ziekte van Hurler |
| pt | Síndrome de Hurler | |
| pl | Zespół Hurler | Choroba Hurler · MPS1H · MPSIH · Mukopolisacharydoza typu 1H · Mukopolisacharydoza typu IH |
| cs | Hurlerové syndrom | Hurlerové nemoc · MPS1H · MPSIH · Mukopolysacharidóza, typ 1H · Mukopolysacharidóza, typ IH |
| uk | Синдром Гурлера | Хвороба Гурлера · MPS1H · MPSIH · Мукополісахаридоз типу 1H · Мукополісахаридоз типу IH |
| zh | Hurler综合征 | 粘多糖贮积症IH型 |
| tr | Hurler sendromu | MPS1H · MPSIH · Hurler hastalığı · Mukopolisakkaridoz tip 1H · Mukopolisakkaridoz tip IH |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607014 | E | validated | |
| ICD-10 | E76.0 | NTBT | attributed | validated |
| ICD-11 | 5C56.30 | NTBT | index | validated |
| MONDO | 0011758 | E | validated | |
| UMLS | C0086795 | E | validated | |
| GARD | 12559 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:217581Lysosomal disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:217638Lysosomal disease with restrictive 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 - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
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
11 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.64 / 100 000 | Germany | Value and class | Validated | 16435194[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Denmark | Class only | Validated | 18681890[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.05 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.06 / 100 000 | Taiwan, Province of China | Value and class | Validated | 19396827[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.93 / 100 000 | Australia | Value and class | Validated | 14608657[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Europe | Value and class | Validated | ORPHANET_16435194[PMID]_14685153[PMID]_18681890[PMID]_18796143[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.76 / 100 000 | United Kingdom | Value and class | Validated | 18796143[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.07 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.26 / 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.
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HPO phenotypes
60 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:0000924 | Abnormality of the skeletal system | |
| HP:0100765 | Abnormality of the tonsils | |
| HP:0000463 | Anteverted nares | |
| HP:0001638 | Cardiomyopathy | |
| HP:0100021 | Cerebral palsy | |
| HP:0000280 | Coarse facial features | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000293 | Full cheeks | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0100790 | Hernia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0100729 | Large face | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0008155 | Mucopolysacchariduria | |
| HP:0012384 | Rhinitis | |
| HP:0000470 | Short neck | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001744 | Splenomegaly | |
| HP:0000574 | Thick eyebrow | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002028 | Chronic diarrhea | |
| HP:0007957 | Corneal opacity | |
| HP:0001522 | Death in infancy | |
| HP:0000716 | Depression | |
| HP:0000268 | Dolichocephaly | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0011968 | Feeding difficulties | |
| HP:0000501 | Glaucoma | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000238 | Hydrocephalus | |
| HP:0000822 | Hypertension | |
| HP:0000158 | Macroglossia | |
| HP:0011369 | Mongolian blue spot | |
| HP:0003275 | Narrow pelvis bone | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000488 | Retinopathy | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0040129 | Abnormal nerve conduction velocity | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0001681 | Angina pectoris | |
| HP:0001706 | Endocardial fibroelastosis | |
| HP:0002313 | Spastic paraparesis | |
| HP:0003416 | Spinal canal stenosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30083796[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93473
- This record as JSON: /data/d/93473.json