ORPHA:118
Beta-mannosidosis
Synonyms: Beta-mannosidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beta-mannosidosis | Beta-mannosidase deficiency |
| fr | Bêta-mannosidose | Déficit en bêta-mannosidase lysosomale |
| de | Beta-Mannosidose | |
| es | Beta-manosidosis | Deficiencia de beta-manosidasa |
| it | Beta-mannosidasi | Deficit di beta-mannosidasi lisosomiale |
| nl | Bèta-mannosidose | Bèta-mannosidasedeficiëntie |
| pt | Beta-manosidose | Deficiência de beta-manosidase · Deficiência de beta-manosidase lisossomal |
| pl | Beta-mannozydoza | Niedobór beta-mannozydazy · Niedobór lizosomalnej beta-mannozydazy |
| cs | Beta-mannosidóza | Deficit beta-mannosidázy |
| uk | Бета-маннозидоз | Дефіцит бета-маннозидази |
| zh | β-甘露糖苷贮积症 | β-甘露糖苷酶缺乏症 |
| tr | Beta-mannosidoz | Beta-mannosidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248510 | E | validated | |
| ICD-10 | E77.1 | NTBT | inclusion | validated |
| ICD-11 | 5C56.21 | NTBT | index | validated |
| MONDO | 0009562 | E | validated | |
| MeSH | D044905 | E | validated | |
| UMLS | C4048196 | E | validated | |
| GARD | 869 | 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:217581Lysosomal disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:93448Lysosomal storage disease with skeletal involvement
rare genetic diseases; rare bone diseases - ORPHA:79215Oligosaccharidosis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MANBA | Disease-causing germline mutation(s) in | Assessed | HGNC:6831 | ENSG00000109323 | 609489 | 4q24 | mannosidase beta | 18980795[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.14 / 100 000 | Europe | Value and class | Validated | 14685153[PMID]_10480370[PMID]_20490927[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.16 / 100 000 | Czech Republic | Value and class | Validated | 20490927[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 / 100 000 | Netherlands | Value and class | Validated | 10480370[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.12 / 100 000 | Portugal | Value and class | Validated | 14685153[PMID] |
| Point prevalence | Unknown | — | Worldwide | 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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000365 | Hearing impairment | |
| HP:0005247 | Hypoplasia of the abdominal wall musculature | |
| HP:0001249 | Intellectual disability | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/118
- This record as JSON: /data/d/118.json