ORPHA:582
Mucopolysaccharidosis type 4
Synonyms: MPS4 · MPSIV · Morquio disease · Mucopolysaccharidosis type IV
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal dysplasia, manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 4 | MPS4 · MPSIV · Morquio disease · Mucopolysaccharidosis type IV |
| fr | Mucopolysaccharidose type 4 | MPS4 · MPSIV · Maladie de Morquio · Mucopolysaccharidose type IV |
| de | Mukopolysaccharidose Typ 4 | MPS4 · MPSIV · Morquio-Krankheit · Mukopolysaccharidose Typ IV |
| es | Mucopolisacaridosis tipo 4 | Enfermedad de Morquio · MPS4 · MPSIV · Mucopolisacaridosis tipo IV |
| it | Mucopolisaccaridosi tipo 4 | MPS4 · MPSIV · Malattia di Morquio · Mucopolisaccaridosi, tipo IV |
| nl | Mucopolysacharidose type 4 | MPS4 · MPSIV · Mucopolysacharidose type IV · Ziekte van Morquio |
| pt | Mucopolissacaridose tipo 4 | MPS4 |
| pl | Mukopolisacharydoza typu 4 | Choroba Morquio · MPS4 · MPSIV · Mukopolisacharydoza typu IV |
| cs | Mukopolysacharidóza, typ IV | MPS IV · Mukopolysacharidóza IV. typu · Morquiův syndrom |
| uk | Мукополісахаридоз, тип 4 | Хвороба Моркіо · MPS4 · MPSIV · Мукополісахаридоз IV типу |
| zh | 黏多糖贮积症Ⅵ型 | 黏多糖贮积症Ⅵ型 |
| tr | Mukopolisakkaridoz tip 4 | MPS4 · MPSIV · Morquio hastalığı · Mukopolisakkaridoz tip IV |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252300 | BTNT | validated | |
| OMIM | 253000 | BTNT | validated | |
| OMIM | 253010 | BTNT | validated | |
| ICD-10 | E76.2 | NTBT | inclusion | validated |
| ICD-11 | 5C56.32 | E | specific | validated |
| MONDO | 0018938 | E | validated | |
| MeSH | D009085 | E | validated | |
| UMLS | C0026707 | E | validated | |
| GARD | 12562 | E | validated | |
| MedDRA | 10028095 | 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: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
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Genes
0 direct · 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| GALNS | ORPHA:309297Mucopolysaccharidosis type 4A | Disease-causing germline mutation(s) in | Assessed | HGNC:4122 | ENSG00000141012 | 612222 | 16q24.3 | galactosamine (N-acetyl)-6-sulfatase | 23844448[PMID] |
| GLB1 | ORPHA:309310Mucopolysaccharidosis type 4B | Disease-causing germline mutation(s) in | Assessed | HGNC:4298 | ENSG00000170266 | 611458 | 3p22.3 | galactosidase beta 1 | 24156116[PMID] |
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Prevalence and incidence
21 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | <1 / 1 000 000 | 0.07 / 100 000 | Sweden | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.76 / 100 000 | Norway | Value and class | Validated | 18681890[PMID] |
| Point prevalence | 1-5 / 10 000 | 24.2 / 100 000 | Norway | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.48 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID] |
| Point prevalence | 1-5 / 10 000 | 31 / 100 000 | Denmark | Value and class | Validated | 18681890[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.73 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.45 / 100 000 | Tunisia | Value and class | Validated | 20209839[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.33 / 100 000 | Taiwan, Province of China | Value and class | Validated | 19396827[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.45 / 100 000 | Europe | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.36 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 / 100 000 | Poland | Value and class | Validated | 25472774[PMID] |
| Point prevalence | 1-5 / 10 000 | 27.6 / 100 000 | Europe | Value and class | Validated | 18681890[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.15 / 100 000 | Japan | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 / 100 000 | Switzerland | Value and class | Validated | 28595941[PMID] |
| 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 | 0.13 / 100 000 | Korea, Republic of | Value and class | Validated | 25364648[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 / 100 000 | Brazil | Value and class | Validated | 31926052[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.07 / 100 000 | Worldwide | Value and class | Validated | 28595941[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.038 / 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
34 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0006487 | Bowing of the long bones | |
| HP:0007957 | Corneal opacity | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001288 | Gait disturbance | |
| HP:0002857 | Genu valgum | |
| HP:0000365 | Hearing impairment | |
| HP:0001382 | Joint hypermobility | |
| HP:0008155 | Mucopolysacchariduria | |
| HP:0000768 | Pectus carinatum | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| Frequent (79-30%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000463 | Anteverted nares | |
| HP:0000670 | Carious teeth | |
| HP:0000280 | Coarse facial features | |
| HP:0002673 | Coxa valga | |
| HP:0000683 | Grayish enamel | |
| HP:0100790 | Hernia | |
| HP:0003307 | Hyperlordosis | |
| HP:0001373 | Joint dislocation | |
| HP:0002808 | Kyphosis | |
| HP:0000926 | Platyspondyly | |
| HP:0002650 | Scoliosis | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0000256 | Macrocephaly | |
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/582
- This record as JSON: /data/d/582.json