MCID: MNN018
MIFTS: 44

Mannosidosis

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

Aliases & Classifications for Mannosidosis

MalaCards integrated aliases for Mannosidosis:

Name: Mannosidosis 37 72 51
Mannosidase Deficiency Diseases 69
Alpha-Mannosidosis 69

Classifications:



External Ids:

UMLS 69 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 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 Glycosaminoglycan metabolism and Lysosome. 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 : 72 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 40)
# Related Disease Score Top Affiliating Genes
1 mannosidosis, alpha b, lysosomal 33.5 MAN2B1 MANBA
2 mannosidosis, beta a, lysosomal 32.7 MAN2B1 MANBA NAGA
3 lysosomal storage disease 29.3 MAN2B1 MANBA SGSH
4 angiokeratoma 29.0 MANBA NAGA
5 alpha-mannosidosis, infantile form 11.9
6 alpha-mannosidosis, adult form 11.9
7 fucosidosis 10.1
8 ataxia and polyneuropathy, adult-onset 9.9
9 aging 9.9
10 hydrocephalus 9.9
11 retinitis 9.9
12 thyroiditis 9.9
13 neuronitis 9.9
14 blood group, i system 9.7
15 systemic lupus erythematosus 9.7
16 aspartylglucosaminuria 9.7
17 gaucher disease, type iii 9.7
18 metachromatic leukodystrophy 9.7
19 mucolipidosis ii alpha/beta 9.7
20 spinal muscular atrophy, type i 9.7
21 galactosialidosis 9.7
22 adrenoleukodystrophy 9.7
23 obesity, hyperphagia, and developmental delay 9.7
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
25 mucopolysaccharidosis-plus syndrome 9.7
26 hematopoietic stem cell transplantation 9.7
27 neurodegeneration with brain iron accumulation 9.7
28 leukodystrophy 9.7
29 polyneuropathy 9.7
30 autosomal dominant cerebellar ataxia 9.7
31 communicating hydrocephalus 9.7
32 epilepsy 9.7
33 central nervous system disease 9.7
34 cerebritis 9.7
35 periodontitis 9.7
36 nervous system disease 9.7
37 lupus erythematosus 9.7
38 hypervitaminosis d 9.7
39 mucopolysaccharidoses 9.7
40 skin hemangioma 9.3 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:


gait ataxia, muscle spasticity

MGI Mouse Phenotypes related to Mannosidosis:

43
# 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 all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
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 460612 4053
20 tannic acid Approved, Nutraceutical Phase 2
21 Tocopherol Approved, Investigational, Nutraceutical Phase 2
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
23 Alkylating Agents Phase 2
24 Antilymphocyte Serum Phase 2
25 Antirheumatic Agents Phase 2
26 Immunosuppressive Agents Phase 2
27 Methylprednisolone acetate Phase 2
28 Methylprednisolone Hemisuccinate Phase 2
29 Prednisolone acetate Phase 2
30 Prednisolone hemisuccinate Phase 2
31 Prednisolone phosphate Phase 2
32 Anti-Bacterial Agents Phase 2
33 Antibiotics, Antitubercular Phase 2
34 Antifungal Agents Phase 2
35 Anti-Infective Agents Phase 2
36 Antitubercular Agents Phase 2
37 Calcineurin Inhibitors Phase 2
38 Cyclosporins Phase 2
39 Dermatologic Agents Phase 2
40 Antimetabolites Phase 2
41 Antimetabolites, Antineoplastic Phase 2
42 N-monoacetylcystine Phase 2
43 Thioctic Acid Phase 2
44 Tocopherols Phase 2
45 Tocotrienols Phase 2
46 Vitamins Phase 2
47 Nucleic Acid Synthesis Inhibitors Phase 2
48 Alpha-lipoic Acid Nutraceutical Phase 2
49 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
50 Krestin

Interventional clinical trials:

(show all 22)

# 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 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)
12 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
13 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
14 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
15 Safety Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis Completed NCT01268358 Phase 1 Lamazym
16 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
17 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
18 The Natural History of Alpha-Mannosidosis Completed NCT00498420
19 Biomarker for Alpha-Mannosidosis Disease Recruiting NCT03264040
20 Clinical Biomarkers in Alpha-mannosidosis Recruiting NCT02141503
21 Longitudinal Studies of the Glycoproteinoses Recruiting NCT01891422
22 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:

38
Bone, Bone Marrow, Brain, Kidney, Thyroid, T Cells, Monocytes

Publications for Mannosidosis

Articles related to Mannosidosis:

(show top 50) (show all 185)
# Title Authors Year
1
Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice. ( 28720484 )
2017
2
Lysosomal alpha-mannosidase and alpha-mannosidosis. ( 27814608 )
2017
3
Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations. ( 27396955 )
2016
4
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function. ( 26212233 )
2015
5
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. ( 26048034 )
2015
6
Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1. ( 26354342 )
2015
7
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
8
Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice. ( 26817023 )
2015
9
Diffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of I+-Mannosidosis. ( 26671987 )
2015
10
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis. ( 26016802 )
2015
11
Alpha-mannosidosis: a report of 2 siblings and review of the literature. ( 23307885 )
2014
12
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment. ( 25345101 )
2014
13
The natural course and complications of alpha-mannosidosis-a retrospective and descriptive study. ( 23739775 )
2014
14
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in I+-Mannosidosis. ( 23613340 )
2013
15
A Clinically Severe Variant of I^-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus. ( 23588843 )
2013
16
Hypervitaminosis D in guinea pigs with I+-mannosidosis. ( 23582422 )
2013
17
Natural history of alpha mannosidosis a longitudinal study. ( 23786919 )
2013
18
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study. ( 23494656 )
2013
19
Molecular diagnosis of a Chinese pedigree with I+-mannosidosis and identification of a novel missense mutation. ( 24353136 )
2013
20
Severe periodontal destruction in alpha-mannosidosis: a case series. ( 23211899 )
2012
21
Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea. ( 22362938 )
2012
22
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients. ( 21552297 )
2012
23
Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of I+-Mannosidosis. ( 23430902 )
2012
24
Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis. ( 22775975 )
2012
25
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. ( 22161967 )
2012
26
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )
2012
27
Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in I+-mannosidosis. ( 21157375 )
2011
28
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. ( 21505070 )
2011
29
Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients. ( 22023421 )
2011
30
Clinical utility gene card for: I+-mannosidosis. ( 21368911 )
2011
31
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment. ( 21541723 )
2011
32
Retinal dystrophy in 2 brothers with I+-Mannosidosis. ( 21670350 )
2011
33
Human I+-mannosidase produced in transgenic tobacco plants is processed in human I+-mannosidosis cell lines. ( 21645202 )
2011
34
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
35
Impaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis. ( 19884343 )
2010
36
Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats. ( 19743435 )
2010
37
Cemented total hip arthroplasty in a patient with alpha-mannosidosis: a case report. ( 19462374 )
2009
38
The guinea pig as an animal model for Ipomoea carnea induced alpha-mannosidosis. ( 19393259 )
2009
39
In utero transplantation of monocytic cells in cats with alpha-mannosidosis. ( 19667933 )
2009
40
Beta-mannosidosis: a new cause of spinocerebellar ataxia. ( 18980795 )
2009
41
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
42
Alpha-mannosidosis. ( 18651971 )
2008
43
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. ( 18713755 )
2008
44
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations. ( 18565776 )
2008
45
Behavioural characterisation of the alpha-mannosidosis guinea pig. ( 17889945 )
2008
46
Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis. ( 17882013 )
2007
47
Morphopathological features in tissues of alpha-mannosidosis guinea pigs at different gestational ages. ( 17854439 )
2007
48
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. ( 16919251 )
2007
49
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. ( 17420068 )
2007
50
Early onset alpha-mannosidosis with slow progression in three Hispanic males. ( 17979865 )
2007

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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