MCID: MNN018
MIFTS: 43

Mannosidosis

Categories: Neuronal diseases, Bone diseases, Metabolic 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:

UMLS 73 C1257960

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 muscle spasticity and gait ataxia. 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 brain, 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 41)
# Related Disease Score Top Affiliating Genes
1 mannosidosis, alpha b, lysosomal 33.3 MAN2B1 MANBA
2 mannosidosis, beta a, lysosomal 31.9 MAN2B1 MANBA NAGA
3 lysosomal storage disease 28.9 MAN2B1 MANBA SGSH
4 angiokeratoma 28.6 MANBA NAGA
5 alpha-mannosidosis, infantile form 11.9
6 alpha-mannosidosis, adult form 11.9
7 fucosidosis 10.1
8 retinitis 10.0
9 aging 9.9
10 hydrocephalus 9.9
11 thyroiditis 9.9
12 neuronitis 9.9
13 fundus dystrophy 9.9
14 systemic lupus erythematosus 9.7
15 aspartylglucosaminuria 9.7
16 gaucher disease, type iii 9.7
17 metachromatic leukodystrophy 9.7
18 mucolipidosis ii alpha/beta 9.7
19 spinal muscular atrophy, type i 9.7
20 galactosialidosis 9.7
21 adrenoleukodystrophy 9.7
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
23 hematopoietic stem cell transplantation 9.7
24 neurodegeneration with brain iron accumulation 9.7
25 leukodystrophy 9.7
26 polyneuropathy 9.7
27 autosomal dominant cerebellar ataxia 9.7
28 communicating hydrocephalus 9.7
29 epilepsy 9.7
30 gaucher's disease 9.7
31 central nervous system disease 9.7
32 cerebritis 9.7
33 periodontitis 9.7
34 nervous system disease 9.7
35 lupus erythematosus 9.7
36 hypervitaminosis d 9.7
37 type i 9.7
38 schindler disease 9.7
39 mucopolysaccharidoses 9.7
40 mucopolysaccharidosis, type vii 9.2 MANBA SGSH
41 skin hemangioma 9.1 MANBA NAGA

Graphical network of the top 20 diseases related to Mannosidosis:



Diseases related to Mannosidosis

Symptoms & Phenotypes for Mannosidosis

UMLS symptoms related to Mannosidosis:


muscle spasticity, gait ataxia

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 51)
# 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
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
7
alemtuzumab Approved, Investigational Phase 2 216503-57-0
8
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
9
Mesna Approved, Investigational Phase 2 3375-50-6 598
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
14
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
15
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
16
rituximab Approved Phase 2 174722-31-7 10201696
17
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
18
Hydroxyurea Approved Phase 2 127-07-1 3657
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20 tannic acid Approved, Nutraceutical Phase 2
21
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
23 Alkylating Agents Phase 2
24 Antilymphocyte Serum Phase 2
25 Antineoplastic Agents, Alkylating Phase 2
26 Antirheumatic Agents Phase 2
27 Immunosuppressive Agents Phase 2
28 Methylprednisolone acetate Phase 2
29 Methylprednisolone Hemisuccinate Phase 2
30 Prednisolone acetate Phase 2
31 Prednisolone hemisuccinate Phase 2
32 Prednisolone phosphate Phase 2
33 Anti-Bacterial Agents Phase 2
34 Antibiotics, Antitubercular Phase 2
35 Antifungal Agents Phase 2
36 Anti-Infective Agents Phase 2
37 Antitubercular Agents Phase 2
38 Calcineurin Inhibitors Phase 2
39 Cyclosporins Phase 2
40 Dermatologic Agents Phase 2
41 Antimetabolites Phase 2
42 Antimetabolites, Antineoplastic Phase 2
43 N-monoacetylcystine Phase 2
44 Thioctic Acid Phase 2
45 Tocopherols Phase 2
46 Tocotrienols Phase 2
47 Vitamins Phase 2
48 Nucleic Acid Synthesis Inhibitors Phase 2
49 Alpha-lipoic Acid Nutraceutical Phase 2
50 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6

Interventional clinical trials:

(show all 23)
# 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 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease 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 Alpha-Mannosidosis Disease Recruiting NCT03264040
21 Clinical Biomarkers in Alpha-mannosidosis Recruiting NCT02141503
22 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
23 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
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, Brain, Kidney, Thyroid, Testes, T Cells

Publications for Mannosidosis

Articles related to Mannosidosis:

(show top 50) (show all 195)
# 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
Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice. ( 28720484 )
2017
7
Lysosomal alpha-mannosidase and alpha-mannosidosis. ( 27814608 )
2017
8
Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations. ( 27396955 )
2016
9
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function. ( 26212233 )
2015
10
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
11
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. ( 26048034 )
2015
12
Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice. ( 26817023 )
2015
13
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis. ( 26016802 )
2015
14
Diffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of I+-Mannosidosis. ( 26671987 )
2015
15
Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1. ( 26354342 )
2015
16
The natural course and complications of alpha-mannosidosis-a retrospective and descriptive study. ( 23739775 )
2014
17
Alpha-mannosidosis: a report of 2 siblings and review of the literature. ( 23307885 )
2014
18
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment. ( 25345101 )
2014
19
Molecular diagnosis of a Chinese pedigree with I+-mannosidosis and identification of a novel missense mutation. ( 24353136 )
2013
20
Natural history of alpha mannosidosis a longitudinal study. ( 23786919 )
2013
21
A Clinically Severe Variant of I^-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus. ( 23588843 )
2013
22
Hypervitaminosis D in guinea pigs with I+-mannosidosis. ( 23582422 )
2013
23
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in I+-Mannosidosis. ( 23613340 )
2013
24
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study. ( 23494656 )
2013
25
Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis. ( 22775975 )
2012
26
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. ( 22161967 )
2012
27
Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of I+-Mannosidosis. ( 23430902 )
2012
28
Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea. ( 22362938 )
2012
29
Severe periodontal destruction in alpha-mannosidosis: a case series. ( 23211899 )
2012
30
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )
2012
31
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients. ( 21552297 )
2012
32
Clinical utility gene card for: I+-mannosidosis. ( 21368911 )
2011
33
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. ( 21505070 )
2011
34
Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients. ( 22023421 )
2011
35
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment. ( 21541723 )
2011
36
Human I+-mannosidase produced in transgenic tobacco plants is processed in human I+-mannosidosis cell lines. ( 21645202 )
2011
37
Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in I+-mannosidosis. ( 21157375 )
2011
38
Retinal dystrophy in 2 brothers with I+-Mannosidosis. ( 21670350 )
2011
39
Impaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis. ( 19884343 )
2010
40
Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats. ( 19743435 )
2010
41
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
42
Beta-mannosidosis: a new cause of spinocerebellar ataxia. ( 18980795 )
2009
43
Cemented total hip arthroplasty in a patient with alpha-mannosidosis: a case report. ( 19462374 )
2009
44
The guinea pig as an animal model for Ipomoea carnea induced alpha-mannosidosis. ( 19393259 )
2009
45
In utero transplantation of monocytic cells in cats with alpha-mannosidosis. ( 19667933 )
2009
46
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
47
Behavioural characterisation of the alpha-mannosidosis guinea pig. ( 17889945 )
2008
48
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations. ( 18565776 )
2008
49
Alpha-mannosidosis. ( 18651971 )
2008
50
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. ( 18713755 )
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 oligosaccharide catabolic process GO:0009313 8.96 MAN2B1 MANBA
4 metabolic process GO:0008152 8.92 MAN2B1 MANBA NAGA SGSH

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
Content
Loading form....