Details of Disease

General Information of Disease (ID: DISN0CYD)

Disease Name Beta-mannosidosis
Synonyms
mannosidosis, BETA A, lysosomal; MANSB; lysosomal Beta-mannosidase deficiency; lysosomal beta-mannosidase deficiency; Beta-D-mannosidosis; beta-mannosidase deficiency; Beta-mannosidase deficiency; beta-mannosidosis; mannosidosis, beta
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.
Disease Hierarchy
DISSYRHC: Hereditary peripheral neuropathy
DISZHA63: Lysosomal storage disease with skeletal involvement
DISFKZGQ: Oligosaccharidosis
DISN0CYD: Beta-mannosidosis
Disease Identifiers
MONDO ID
MONDO_0009562
MESH ID
D044905
UMLS CUI
C4048196
OMIM ID
248510
MedGen ID
888408
Orphanet ID
118
SNOMED CT ID
238047006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SGSH TTPJ2SH Definitive Genetic Variation [1]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
MANBA DEMH6UB Definitive Autosomal recessive [2]
MANBA DEMH6UB Definitive CausalMutation [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MANBA OT5O61XL Definitive Autosomal recessive [2]
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References

1 Complementation studies in human and caprine beta-mannosidosis.J Inherit Metab Dis. 1991;14(1):13-7. doi: 10.1007/BF01804382.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14.