MCID: MNN018
MIFTS: 41

Mannosidosis

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

Aliases & Classifications for Mannosidosis

MalaCards integrated aliases for Mannosidosis:

Name: Mannosidosis 38 52
Mannosidase Deficiency Diseases 69
Alpha-Mannosidosis 69

Classifications:



Summaries for Mannosidosis

MalaCards based summary : Mannosidosis, also known as mannosidase deficiency diseases, is related to mannosidosis, alpha-, types i and ii and mannosidosis, beta, 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 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

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 MAN2B1 MANBA SGSH
2 immune system MP:0005387 9.33 MAN2B1 MANBA 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 49)
id 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 50-18-0, 6055-19-2 2907
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
6
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
7
Melphalan Approved Phase 2 148-82-3 4053 460612
8
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
9
Hydroxyurea Approved Phase 2 127-07-1 3657
10
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
11
rituximab Approved Phase 2 174722-31-7 10201696
12
alemtuzumab Approved, Investigational Phase 2 216503-57-0
13 Thiotepa Approved Phase 2 52-24-4 5453
14
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
15
Mycophenolic acid Approved Phase 2 24280-93-1 446541
16
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
17
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
18
Mesna Approved Phase 2 3375-50-6 598
19
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
20 Tocopherol Approved, Nutraceutical Phase 2
21
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
22 tannic acid Approved, Nutraceutical Phase 2
23 Prednisolone acetate Phase 2
24 Alkylating Agents Phase 2
25 Methylprednisolone acetate Phase 2
26 Methylprednisolone Hemisuccinate Phase 2
27 Immunosuppressive Agents Phase 2
28 Prednisolone hemisuccinate Phase 2
29 Prednisolone phosphate Phase 2
30 Antilymphocyte Serum Phase 2
31 Antirheumatic Agents Phase 2
32 N-monoacetylcystine Phase 2
33 Thioctic Acid Phase 2
34 Tocopherols Phase 2
35 Tocotrienols Phase 2
36 Nucleic Acid Synthesis Inhibitors Phase 2
37 Vitamins Phase 2
38 Antimetabolites Phase 2
39 Antimetabolites, Antineoplastic Phase 2
40 Cyclosporins Phase 2
41 Dermatologic Agents Phase 2
42 Anti-Bacterial Agents Phase 2
43 Anti-Infective Agents Phase 2
44 Antifungal Agents Phase 2
45 Antibiotics, Antitubercular Phase 2
46 Calcineurin Inhibitors Phase 2
47 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
48 Alpha-lipoic Acid Nutraceutical Phase 2
49 Krestin

Interventional clinical trials:

(show all 21)

id 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 Active, not recruiting NCT01908725 Phase 3 Lamazym
4 Lamazym Aftercare Study FR Designed to Provide Treatment for French Patients Active, not recruiting NCT01908712 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 Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis Recruiting NCT02998879 Phase 2 Velmanase Alfa (e.g. Lamazym)
10 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)
11 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
12 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
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

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:

39
Bone, Bone Marrow, Brain, Kidney, Thyroid, Monocytes, T Cells

Publications for Mannosidosis

Articles related to Mannosidosis:

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

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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