MCID: MNN018
MIFTS: 45

Mannosidosis

Categories: Bone diseases, Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mannosidosis

MalaCards integrated aliases for Mannosidosis:

Name: Mannosidosis 38 76 55
Mannosidase Deficiency Diseases 73
Alpha-Mannosidosis 73

Classifications:



External Ids:

Summaries for Mannosidosis

MalaCards based summary : Mannosidosis, also known as mannosidase deficiency diseases, is related to mannosidosis, alpha b, lysosomal and mannosidosis, beta a, lysosomal, and has symptoms including gait ataxia and muscle spasticity. An important gene associated with Mannosidosis is MAN2B1 (Mannosidase Alpha Class 2B Member 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Mannitol and Glycine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are hematopoietic system and immune system

Wikipedia : 76 Mannosidosis is a deficiency in mannosidase, an... more...

Related Diseases for Mannosidosis

Diseases in the Mannosidosis family:

Alpha-Mannosidosis, Infantile Form Alpha-Mannosidosis, Adult Form

Diseases related to Mannosidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 mannosidosis, alpha b, lysosomal 34.0 MAN2B1 MANBA
2 mannosidosis, beta a, lysosomal 33.7 MAN2B1 MANBA NAGA
3 angiokeratoma 29.8 MANBA NAGA
4 lysosomal storage disease 29.8 MAN2B1 MANBA SGSH
5 alpha-mannosidosis, infantile form 12.0
6 alpha-mannosidosis, adult form 12.0
7 fucosidosis 10.3
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
9 hydrocephalus 10.0
10 fundus dystrophy 10.0
11 mucopolysaccharidoses 10.0
12 systemic lupus erythematosus 9.9
13 otitis media 9.9
14 aspartylglucosaminuria 9.9
15 gaucher disease, type iii 9.9
16 metachromatic leukodystrophy 9.9
17 mucolipidosis ii alpha/beta 9.9
18 spinal muscular atrophy, type i 9.9
19 galactosialidosis 9.9
20 adrenoleukodystrophy 9.9
21 cataract 9.9
22 hematopoietic stem cell transplantation 9.9
23 neurodegeneration with brain iron accumulation 9.9
24 leukodystrophy 9.9
25 pancytopenia 9.9
26 polyneuropathy 9.9
27 autosomal dominant cerebellar ataxia 9.9
28 communicating hydrocephalus 9.9
29 epilepsy 9.9
30 gaucher's disease 9.9
31 central nervous system disease 9.9
32 gangliosidosis gm2 9.9
33 gangliosidosis gm1 9.9
34 arthropathy 9.9
35 paraplegia 9.9
36 nervous system disease 9.9
37 lupus erythematosus 9.9
38 pathologic nystagmus 9.9
39 hypervitaminosis d 9.9
40 schindler disease 9.9
41 skin hemangioma 9.8 MANBA NAGA
42 mucopolysaccharidosis, type vii 9.6 MANBA SGSH

Graphical network of the top 20 diseases related to Mannosidosis:



Diseases related to Mannosidosis

Symptoms & Phenotypes for Mannosidosis

UMLS symptoms related to Mannosidosis:


gait ataxia, muscle spasticity

MGI Mouse Phenotypes related to Mannosidosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.56 MAN2B1 MANBA NAGA SGSH
2 immune system MP:0005387 9.46 MAN2B1 MANBA NAGA SGSH
3 liver/biliary system MP:0005370 9.13 MAN2B1 MANBA SGSH
4 renal/urinary system MP:0005367 8.8 MAN2B1 MANBA SGSH

Drugs & Therapeutics for Mannosidosis

Drugs for Mannosidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
2
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
3
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
4
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
6
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
7
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
8
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478
9 tannic acid Approved Phase 2
10
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
11
alemtuzumab Approved, Investigational Phase 2 216503-57-0
12
Mesna Approved, Investigational Phase 2 3375-50-6 598
13
Mycophenolic acid Approved Phase 2 24280-93-1 446541
14
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
15
Fludarabine Approved Phase 1, Phase 2,Phase 2 75607-67-9, 21679-14-1 30751
16
Thiotepa Approved, Investigational Phase 1, Phase 2,Phase 2 52-24-4 5453
17
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
18
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
19
rituximab Approved Phase 2 174722-31-7 10201696
20
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
21
Melphalan Approved Phase 2 148-82-3 4053 460612
22
Hydroxyurea Approved Phase 2 127-07-1 3657
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
24
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
25 Tocotrienol Investigational Phase 2 6829-55-6
26 Immunosuppressive Agents Phase 2,Phase 1
27 Antineoplastic Agents, Alkylating Phase 2,Phase 1
28 Prednisolone acetate Phase 2
29 Immunologic Factors Phase 2,Phase 1
30 Alkylating Agents Phase 2,Phase 1
31 Methylprednisolone acetate Phase 2
32 Thymoglobulin Phase 2,Phase 1
33 Antilymphocyte Serum Phase 2,Phase 1
34 Antirheumatic Agents Phase 2
35 Calcineurin Inhibitors Phase 2
36 Cyclosporins Phase 2
37 Antifungal Agents Phase 2
38 Dermatologic Agents Phase 2
39 Antitubercular Agents Phase 2
40 Antibiotics, Antitubercular Phase 2
41 Anti-Bacterial Agents Phase 2
42 Anti-Infective Agents Phase 2
43 Antimetabolites Phase 1, Phase 2,Phase 2
44 Antimetabolites, Antineoplastic Phase 1, Phase 2,Phase 2
45 Thioctic Acid Phase 2
46 Tocotrienols Phase 2
47 Alpha-lipoic Acid Phase 2
48 N-monoacetylcystine Phase 2
49 Tocopherols Phase 2
50 Vitamins Phase 2

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis Completed NCT01681953 Phase 3 Lamazym;Placebo
2 Evaluation of Long-term Efficacy of Treatment With Lamazym Completed NCT02478840 Phase 3 Lamazym
3 Lamazym Aftercare Study FR Designed to Provide Treatment for French Patients Active, not recruiting NCT01908712 Phase 3 Lamazym
4 Lamazym Aftercare Study Active, not recruiting NCT01908725 Phase 3 Lamazym
5 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
6 Dose Finding Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis Unknown status NCT01285700 Phase 2 Lamazym
7 Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-Mannosidosis Completed NCT01681940 Phase 2 Lamazym
8 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
9 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
10 Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis Recruiting NCT02998879 Phase 2 Velmanase Alfa (e.g. Lamazym)
11 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
12 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
13 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
14 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
15 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
16 Safety Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis Completed NCT01268358 Phase 1 Lamazym
17 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
18 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
19 The Natural History of Alpha-Mannosidosis Completed NCT00498420
20 Biomarker for Mannosidosis Disease: BioMannosidosis Recruiting NCT03264040
21 European Alpha-Mannosidosis Patient Epidemiological Program Recruiting NCT03651245
22 Clinical Biomarkers in Alpha-mannosidosis Recruiting NCT02141503
23 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
24 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

Search NIH Clinical Center for Mannosidosis

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mannosidosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mannosidosis:
Hemacord�, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
Embryonic/Adult Cultured Cells Related to Mannosidosis:
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD�) PMIDs: 9828244

Genetic Tests for Mannosidosis

Anatomical Context for Mannosidosis

MalaCards organs/tissues related to Mannosidosis:

41
Bone, Bone Marrow, Eye, Brain, Testes, Kidney, Skin

Publications for Mannosidosis

Articles related to Mannosidosis:

(show top 50) (show all 331)
# Title Authors Year
1
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial. ( 29846843 )
2018
2
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis. ( 29725868 )
2018
3
Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis. ( 29716835 )
2018
4
Retinal and optic nerve degeneration in I+-mannosidosis. ( 29859105 )
2018
5
Alpha-Mannosidosis: Therapeutic Strategies. ( 29772816 )
2018
6
The structure of mammalian β-mannosidase provides insight into β-mannosidosis and Nystagmus. ( 30552791 )
2018
7
Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice. ( 28720484 )
2017
8
Lysosomal alpha-mannosidase and alpha-mannosidosis. ( 27814608 )
2017
9
Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations. ( 27396955 )
2016
10
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function. ( 26212233 )
2015
11
amamutdb.no: A Relational Database for MAN2B1 Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in I+-Mannosidosis. ( 25762455 )
2015
12
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. ( 26048034 )
2015
13
Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice. ( 26817023 )
2015
14
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis. ( 26016802 )
2015
15
Diffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of I+-Mannosidosis. ( 26671987 )
2015
16
Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1. ( 26354342 )
2015
17
The natural course and complications of alpha-mannosidosis-a retrospective and descriptive study. ( 23739775 )
2014
18
Alpha-mannosidosis: a report of 2 siblings and review of the literature. ( 23307885 )
2014
19
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment. ( 25345101 )
2014
20
Molecular diagnosis of a Chinese pedigree with I+-mannosidosis and identification of a novel missense mutation. ( 24353136 )
2013
21
Natural history of alpha mannosidosis a longitudinal study. ( 23786919 )
2013
22
A Clinically Severe Variant of I^-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus. ( 23588843 )
2013
23
Hypervitaminosis D in guinea pigs with I+-mannosidosis. ( 23582422 )
2013
24
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in I+-Mannosidosis. ( 23613340 )
2013
25
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study. ( 23494656 )
2013
26
Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis. ( 22775975 )
2012
27
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. ( 22161967 )
2012
28
Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of I+-Mannosidosis. ( 23430902 )
2012
29
Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea. ( 22362938 )
2012
30
Severe periodontal destruction in alpha-mannosidosis: a case series. ( 23211899 )
2012
31
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )
2012
32
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients. ( 21552297 )
2012
33
Clinical utility gene card for: I+-mannosidosis. ( 21368911 )
2011
34
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. ( 21505070 )
2011
35
Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients. ( 22023421 )
2011
36
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment. ( 21541723 )
2011
37
Human I+-mannosidase produced in transgenic tobacco plants is processed in human I+-mannosidosis cell lines. ( 21645202 )
2011
38
Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in I+-mannosidosis. ( 21157375 )
2011
39
Retinal dystrophy in 2 brothers with I+-Mannosidosis. ( 21670350 )
2011
40
Impaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis. ( 19884343 )
2010
41
Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats. ( 19743435 )
2010
42
Novel human pathological mutations. Gene symbol: MAN2B1. Disease: Mannosidosis, alpha. ( 20108400 )
2010
43
The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option? ( 20165920 )
2010
44
Beta-mannosidosis: a new cause of spinocerebellar ataxia. ( 18980795 )
2009
45
Cemented total hip arthroplasty in a patient with alpha-mannosidosis: a case report. ( 19462374 )
2009
46
The guinea pig as an animal model for Ipomoea carnea induced alpha-mannosidosis. ( 19393259 )
2009
47
In utero transplantation of monocytic cells in cats with alpha-mannosidosis. ( 19667933 )
2009
48
Apparent diffusion coefficient reveals gray and white matter disease, and T2 mapping detects white matter disease in the brain in feline alpha-mannosidosis. ( 17974615 )
2008
49
Behavioural characterisation of the alpha-mannosidosis guinea pig. ( 17889945 )
2008
50
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations. ( 18565776 )
2008

Variations for Mannosidosis

Expression for Mannosidosis

Search GEO for disease gene expression data for Mannosidosis.

Pathways for Mannosidosis

GO Terms for Mannosidosis

Cellular components related to Mannosidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 9.13 MAN2B1 MANBA SGSH
2 lysosome GO:0005764 8.92 MAN2B1 MANBA NAGA SGSH

Biological processes related to Mannosidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.33 MAN2B1 MANBA NAGA
2 cellular protein modification process GO:0006464 9.26 MAN2B1 MANBA
3 metabolic process GO:0008152 9.13 MAN2B1 MANBA NAGA
4 oligosaccharide catabolic process GO:0009313 8.62 MAN2B1 MANBA

Molecular functions related to Mannosidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.26 MAN2B1 MANBA NAGA SGSH
2 hydrolase activity, acting on glycosyl bonds GO:0016798 8.8 MAN2B1 MANBA NAGA

Sources for Mannosidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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