MAN2B1
HGNC:6826 · SaudiVarKB evidence summary derived from retained literature mentions.
3Gene mentions
3Publications
1Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in MAN2B1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 2 | 2 |
| hearing loss | HP:0000365 | 2 | 2 |
| retinal dystrophy | HP:0000556 | 1 | 1 |
| lysosomal storage disease | HP:0003541 | 1 | 1 |
Linked variants
Variants normalized to MAN2B1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.2402dupG | c.2402dupG | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
Supporting publications
3 records- 2026Early-Onset Retinal Dystrophy in Alpha-Mannosidosis: A Case Report.Case reports in ophthalmologyPubMed ↗
- 2024Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.Frontiers in geneticsPubMed ↗
- 2010Novel human pathological mutations. Gene symbol: MAN2B1. Disease: Mannosidosis, alpha.Human geneticsPubMed ↗