beta-mannosidosis
ICD-10: Q77.1MeSH: D044905ORPHA: 118
Overview
lysosomal storage disease that has material basis in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with beta-mannosidosis, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentIntellectual disabilitySeizureAbnormal facial shapeRecurrent respiratory infectionsHypoplasia of the abdominal wall musculature
Classification & Codes
ICD-10 Code
Q77.1MeSH Code
D044905Orphanet Code
ORPHA:118beta-mannosidosis
| ICD-10 | Q77.1 |
| MeSH | D044905 |
| Orphanet | ORPHA:118 |
| Treatments | 0 drug(s) |
| Symptoms on record | 6 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO