beta-mannosidosis
Findings
No curated finding names beta-mannosidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009562), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating beta-mannosidase activityHPOHP:0034367
- 1 of 1 reported patient
- HyperactivityHPOHP:0000752
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Reduced tissue beta-mannosidase activityHPOHP:4000205
- 1 of 1 reported patient
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MANBAHGNC:6831
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: beta-mannosidosis
- Also called
- Beta-mannosidase deficiencylysosomal beta-mannosidase deficiencymannosidosis, beta