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beta-mannosidosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

beta-mannosidosis

MONDO:0009562

Also known as:Beta-D-mannosidosisBeta-mannosidase deficiencylysosomal beta-mannosidase deficiency

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Overview

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.

GeneticsAutosomal recessive · MANBA (chr 4)

Clinical Trials1 registered · 1 recruiting

Patient Orgs1 organizations · International Society for Mannosidosis & Related Diseases (ISMRD)

ResearchLimited published research (5 articles)

Data assembled from 8 of 12 sources · Last updated Oct 3, 2026, 8:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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International Society for Mannosidosis & Related Diseases (ISMRD)Primary Focus

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Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:248510

Orphanet

European rare disease database

Orphanet:118

GARD

Genetic and Rare Diseases Info Center

GARD:869

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with International Society for Mannosidosis & Related Diseases (ISMRD) and other patient organizations for support?

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Features include always present findings: Decreased circulating beta-mannosidase activity, Hyperactivity, and Reduced tissue beta-mannosidase activity; and very common findings: Hearing loss (hearing impairment), Seizure, Abnormal facial shape, and Intellectual disability and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Abnormal speech pattern, Seizure, Aggressive behavior
Muscles	2	Low muscle tone (hypotonia), Generalized hypotonia
Blood and immune system	2	Recurrent infections, Recurrent respiratory infections
Skin	1	Angiokeratoma
Ears	1	Hearing loss (hearing impairment)
Lab test results	1	Decreased circulating beta-mannosidase activity
Kidneys and urinary system	1	Increased urinary disaccharide excretion
Head and neck	1	Abnormal facial shape
Eyes	1	Tortuosity of conjunctival vessels
Lungs and breathing	1	Recurrent respiratory infections
Digestive system	1	Hypoplasia of the abdominal wall musculature

Kisho

beta-mannosidosis

Overview

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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