ORPHA:309310
Mucopolysaccharidosis type 4B
Synonyms: Beta-D-galactosidase deficiency · MPS4B · MPSIVB · Morquio disease type B · Mucopolysaccharidosis type IVB
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Mucopolysaccharidosis type 4
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucopolysaccharidosis type 4B | Beta-D-galactosidase deficiency · MPS4B · MPSIVB · Morquio disease type B · Mucopolysaccharidosis type IVB |
| fr | Mucopolysaccharidose type 4B | Déficit en bêta-D-galactosidase · MPS4B · MPSIVB · Maladie de Morquio type B · Mucopolysaccharidose type IVB |
| de | Mukopolysaccharidose Typ 4B | Beta-D-Galactosidase-Mangel · MPS4B · MPSIVB · Morquio-Krankheit Typ B · Mukopolysaccharidose Typ IVB |
| es | Mucopolisacaridosis tipo 4B | Deficiencia de beta-D-galactosidasa · Enfermedad de Morquio tipo B · MPS4B · MPSIVB · Mucopolisacaridosis tipo IVB |
| it | Mucopolisaccaridosi, tipo 4B | Deficit di beta-D-galattosidasi · MPS4B · MPSIVB · Malattia di Morquio, tipo B · Mucopolisaccaridosi, tipo IVB |
| nl | Mucopolysacharidose type 4B | Deficiëntie van bèta-D-galactosidase · MPS4B · MPSIVB · Mucopolysacharidose type IVB · Ziekte van Morquio type B |
| pt | Mucopolissacaridose tipo 4B | |
| pl | Mukopolisacharydoza typu 4B | Choroba Morquio typu B · MPS4B · MPSIVB · Mukopolisacharydoza typu IVB · Niedobór beta-D-galaktozydazy |
| cs | Mukopolysacharidóza, typ 4B | Deficit beta-D-galaktosidázy · MPS4B · MPSIVB · Morquiova nemoc, typ B · Mukopolysacharidóza, typ IVB |
| uk | Мукополісахаридоз, тип 4B | Дефіцит бета-D-галактозидази · Хвороба Моркіо, тип B · MPS4B · MPSIVB · Мукополісахаридоз типу IVB |
| zh | 黏多糖贮积症4B型 | β-D-半乳糖苷酶缺乏 |
| tr | Mukopolisakkaridoz tip 4B | MPS4B · MPSIVB · Morquio hastalığı tip B · Mukopolisakkaridoz tip IVB · Beta-D-galaktosidaz eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253010 | E | validated | |
| ICD-10 | E76.2 | NTBT | attributed | validated |
| ICD-11 | 5C56.32 | NTBT | index | validated |
| MONDO | 0009660 | E | validated | |
| UMLS | C0086652 | E | validated | |
| GARD | 3786 | 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 (1):
- ORPHA:582Mucopolysaccharidosis type 4
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare ophthalmic disorders; rare bone diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4298 | ENSG00000170266 | 611458 | 3p22.3 | galactosidase beta 1 | 24156116[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.001 / 100 000 | United States | Value and class | Validated | 34051828[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.004 / 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309310
- This record as JSON: /data/d/309310.json