Details of Disease

General Information of Disease (ID: DISUIMJH)

• Disease Name: Alpha-mannosidosis
• Synonyms: Alpha mannosidase B deficiency; lysosomal Alpha-D-mannosidase deficiency; mannosidosis, alpha B lysosomal; mannosidosis, ALPHA B, lysosomal; MANSA; Alpha-mannosidase B deficiency; alpha-mannosidosis; lysosomal alpha-D-mannosidase deficiency; alpha-mannosidase deficiency; mannosidosis, alpha-, types I and II; deficiency of alpha-mannosidase; Alpha-D-mannosidosis
• Disease Class: 5C56: Lysosomal disease
• Definition: Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DISZHA63: Lysosomal storage disease with skeletal involvement
  DISFKZGQ: Oligosaccharidosis
  DISUIMJH: Alpha-mannosidosis
• ICD Code:
  ICD-11: ICD-11: 5C56.21
  Expand ICD-11: '5C56.21
• Disease Identifiers:
  MONDO ID: MONDO_0009561
  MESH ID: D008363
  UMLS CUI: C0024748
  OMIM ID: 248500
  MedGen ID: 7467
  Orphanet ID: 61
  SNOMED CT ID: 124466001

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Velmanase alfa	DMRI4CA	Approved	NA	[1]

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
M-0011	DMGNC6T	Phase 3	NA	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAN2B1	TTC12RO	Strong	Genetic Variation	[3]
MAN2B1	TTC12RO	Definitive	Autosomal recessive	[4]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAN2C1	OT17VT8D	Limited	Biomarker	[5]
MAN2B1	OTL062QO	Definitive	Autosomal recessive	[4]

References

• [1] FDA Approved Drug Products from FDA Official Website. 2023. Application Number: 761278.
• [2] ClinicalTrials.gov (NCT01908712) Lamazym Aftercare Study FR. U.S. National Institutes of Health.
• [3] Pharmacological Chaperones for the Treatment of -Mannosidosis.J Med Chem. 2019 Jun 27;62(12):5832-5843. doi: 10.1021/acs.jmedchem.9b00153. Epub 2019 May 2.
• [4] 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.
• [5] A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings.Am J Med Genet. 1983 Feb;14(2):307-14. doi: 10.1002/ajmg.1320140211.