alpha-mannosidosis
Findings
No curated finding names alpha-mannosidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0009561), read 2026-09-29. CC BY 4.0.
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Enlarged cisterna magnaHPOHP:0002280
- 11 of 13 reported patients
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Craniofacial hyperostosisHPOHP:0004493
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- Hypoplastic inferior iliaHPOHP:0008821
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
Show the remaining 36
- MacroglossiaHPOHP:0000158
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Type II diabetes mellitusHPOHP:0005978
- Very frequent (80% to 99% of cases)
- Cerebellar atrophyHPOHP:0001272
- 8 of 13 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 8 of 13 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAN2B1HGNC:6826
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: alpha-mannosidosis
- Also called
- lysosomal alpha-D-mannosidase deficiencymannosidosis, alpha-, types I and II