x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Beta-mannosidosis

Disease definition

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.

ORPHA:118

  • Synonym(s):
    • Beta-mannosidase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood, Adolescent, Adult
  • ICD-10: E77.1
  • OMIM: 248510
  • UMLS: C0342849  C2931893
  • MeSH: D044905
  • GARD: 869
  • MedDRA: -

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.