Beta-mannosidosis
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.
class Information
definition_citation
Orphanet
has_age_of_onset
- Adolescent
- Adult
- Childhood
- Infancy
- Neonatal
has_dbxref
- ICD-10:E77.1
- ICD-11:5C56.21
- MeSH:D044905
- OMIM:248510
- UMLS:C4048196
has_inheritance
Autosomal recessive
notation
present_in
- Czech Republic AND has_birth_prevalence_average_value : 0.16 AND has_birth_prevalence_range : 1-9 / 1 000 000
- Europe AND has_birth_prevalence_average_value : 0.14 AND has_birth_prevalence_range : 1-9 / 1 000 000
- Netherlands AND has_birth_prevalence_average_value : 0.13 AND has_birth_prevalence_range : 1-9 / 1 000 000
- Portugal AND has_birth_prevalence_average_value : 0.12 AND has_birth_prevalence_range : 1-9 / 1 000 000
- Worldwide AND has_point_prevalence_range : Unknown
class Relations
Subclass of
- Disease
- disorder
- part ofrosomeRare hereditary metabolic disease with peripheral neuropathy
- part ofrosomeLysosomal disease with hypertrophic cardiomyopathy
- part ofrosomeRare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
- part ofrosomeOligosaccharidosis
- part ofrosomeLysosomal storage disease with skeletal involvement
Related from
disease-causing germline mutation(s) in