MCID: MNN018
MIFTS: 47

Mannosidosis malady

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

Aliases & Classifications for Mannosidosis

Aliases & Descriptions 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 fucosidosis and mannosidosis, alpha-, types i and ii, 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 MECP2 and Associated Rett Syndrome. 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 behavior/neurological and cellular

Wikipedia : 71 Mannosidosis is a deficiency in mannosidase, an... more...

Related Diseases for Mannosidosis

Diseases in the Mannosidosis family:

Mannosidosis, Beta Mannosidosis, Alpha-, Types I and Ii
Alpha-Mannosidosis, Infantile Form Alpha-Mannosidosis, Adult Form

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 fucosidosis 30.1 CTSA GAA HEXA NAGA
2 mannosidosis, alpha-, types i and ii 12.4
3 mannosidosis, beta 12.3
4 alpha-mannosidosis, infantile form 11.7
5 alpha-mannosidosis, adult form 11.7
6 malignant fibrous histiocytoma of bone 10.2 CTSA NAGA
7 aggressive systemic mastocytosis 10.2 CTSA MANBA NAGA
8 nasopharyngeal carcinoma 2 10.2 CTSA NAGA
9 retinitis pigmentosa 29 10.1 CTSA GAA NAGA
10 purpura 10.1 CTSA HEXA NAGA
11 myopia 23, autosomal recessive 10.1 CTSA GAA HEXA
12 active cochlear meniere's disease 10.1 HEXA MBP
13 intracranial hypotension 10.1 MANBA NAGA
14 lysosomal storage disease 10.0
15 seizures, benign familial infantile, 1 10.0 CTSA GAA HEXA MAN2B1 MANBA
16 childhood brainstem astrocytoma 9.9 BCL2 MAG MBP
17 rickets due to defect in vitamin d 25-hydroxylation 9.8 CNP MAG MBP
18 ataxia 9.8
19 retinitis 9.8
20 angiokeratoma 9.8
21 thyroiditis 9.8
22 neuronitis 9.8
23 hydrocephalus 9.8
24 mohr-tranebjaerg syndrome 9.7 CTBS MAG MBP
25 neurodegeneration with brain iron accumulation 9.6
26 leukodystrophy 9.6
27 mucopolysaccharidoses 9.6
28 mucopolysaccharidosis 9.6
29 polyneuropathy 9.6
30 communicating hydrocephalus 9.6
31 systemic lupus erythematosus 9.6
32 epilepsy 9.6
33 gaucher disease, type iii 9.6
34 central nervous system disease 9.6
35 cerebritis 9.6
36 aspartylglucosaminuria 9.6
37 galactosialidosis 9.6
38 metachromatic leukodystrophy 9.6
39 adrenoleukodystrophy 9.6
40 periodontitis 9.6
41 hematopoietic stem cell transplantation 9.6
42 nervous system disease 9.6
43 lupus erythematosus 9.6
44 hypervitaminosis d 9.6
45 hyperinsulinemic hypoglycemia, familial, 4 8.2 BCL2 CNP CTBS CTSA GAA HEXA
46 megakaryocytic leukemia 8.1 BCL2 CNP CTBS CTSA GAA HEXA

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 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 MAN2B1 MANBA MAOA MBP SGSH SYCP3
2 cellular MP:0005384 10.16 CTSA GAA MAN2B1 MANBA MBP SERPINB5
3 homeostasis/metabolism MP:0005376 10.15 BCL2 CNP CTBS CTSA GAA HEXA
4 cardiovascular system MP:0005385 10.08 BCL2 CTBS CTSA GAA MAN2B1 MANBA
5 hematopoietic system MP:0005397 10.06 BCL2 CNP CTBS CTSA MAG MAN2B1
6 immune system MP:0005387 9.97 BCL2 CNP CTBS CTSA MAG MAN2B1
7 hearing/vestibular/ear MP:0005377 9.83 BCL2 HEXA MAG MAN2B1 MBP
8 nervous system MP:0003631 9.81 BCL2 CNP HEXA MAG MAN2B1 MANBA
9 liver/biliary system MP:0005370 9.73 MAN2B1 MANBA SGSH CTBS CTSA HEXA
10 renal/urinary system MP:0005367 9.5 BCL2 CTBS CTSA HEXA MAN2B1 MANBA
11 reproductive system MP:0005389 9.17 MANBA MBP SYCP3 BCL2 CNP CTSA

Drugs & Therapeutics for Mannosidosis

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

(show top 50) (show all 66)
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
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
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
alemtuzumab Approved, Investigational Phase 2 216503-57-0
9
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
10
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
11
rituximab Approved Phase 2 174722-31-7 10201696
12
Thiotepa Approved Phase 2 52-24-4 5453
13
Acetaminophen Approved Phase 2 103-90-2 1983
14
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
15
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
16
Hydroxyurea Approved Phase 2 127-07-1 3657
17
Melphalan Approved Phase 2 148-82-3 4053 460612
18
Promethazine Approved Phase 2 60-87-7 4927
19
Vidarabine Approved Phase 2 24356-66-9 32326 21704
20
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
21
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
22
Mesna Approved Phase 2 3375-50-6 598
23
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
24
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
25
Mycophenolic acid Approved Phase 2 24280-93-1 446541
26
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
27 tannic acid Approved, Nutraceutical Phase 2
28 Alkylating Agents Phase 2
29 Antilymphocyte Serum Phase 2
30 Antineoplastic Agents, Alkylating Phase 2
31 Antirheumatic Agents Phase 2
32 Immunosuppressive Agents Phase 2
33 Methylprednisolone acetate Phase 2
34 Methylprednisolone Hemisuccinate Phase 2
35 Prednisolone acetate Phase 2
36 Prednisolone hemisuccinate Phase 2
37 Prednisolone phosphate Phase 2
38 Antimetabolites Phase 2
39 Antimetabolites, Antineoplastic Phase 2
40 N-monoacetylcystine Phase 2
41 Thioctic Acid Phase 2
42 Tocopherols Phase 2
43 Tocotrienols Phase 2
44 Vitamins Phase 2
45 Anti-Bacterial Agents Phase 2
46 Antibiotics, Antitubercular Phase 2
47 Anti-Infective Agents Phase 2
48 Antiviral Agents Phase 2
49 Epinephryl borate Phase 2
50 Nucleic Acid Synthesis Inhibitors Phase 2

Interventional clinical trials:

(show all 20)
id Name Status NCT ID Phase
1 A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis Completed NCT01681953 Phase 3
2 Evaluation of Long-term Efficacy of Treatment With Lamazym Completed NCT02478840 Phase 3
3 Lamazym Aftercare Study Active, not recruiting NCT01908725 Phase 3
4 Lamazym Aftercare Study FR Designed to Provide Treatment for French Patients Active, not recruiting NCT01908712 Phase 3
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
7 Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-Mannosidosis Completed NCT01681940 Phase 2
8 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2
9 Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis Recruiting NCT02998879 Phase 2
10 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
11 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
12 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2
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
15 Safety Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis Completed NCT01268358 Phase 1
16 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
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 Clinical Biomarkers in Alpha-mannosidosis Recruiting NCT02141503
20 Polygen Defi-Alpha: Genetic Polymorphisms Study in Children With Alpha-1 Antitrypsin Deficiency, Included in the DEFI-ALPHA Cohort Recruiting NCT01862211

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, T Cells, Monocytes

Publications for Mannosidosis

Articles related to Mannosidosis:

(show top 50) (show all 184)
id Title Authors Year
1
Lysosomal alpha-mannosidase and alpha-mannosidosis. ( 27814608 )
2017
2
Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations. ( 27396955 )
2016
3
Diffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of I+-Mannosidosis. ( 26671987 )
2015
4
Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1. ( 26354342 )
2015
5
Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice. ( 26817023 )
2015
6
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function. ( 26212233 )
2015
7
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. ( 26048034 )
2015
8
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis. ( 26016802 )
2015
9
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
10
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment. ( 25345101 )
2014
11
The natural course and complications of alpha-mannosidosis-a retrospective and descriptive study. ( 23739775 )
2014
12
Alpha-mannosidosis: a report of 2 siblings and review of the literature. ( 23307885 )
2014
13
Molecular diagnosis of a Chinese pedigree with I+-mannosidosis and identification of a novel missense mutation. ( 24353136 )
2013
14
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in I+-Mannosidosis. ( 23613340 )
2013
15
Natural history of alpha mannosidosis a longitudinal study. ( 23786919 )
2013
16
A Clinically Severe Variant of I^-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus. ( 23588843 )
2013
17
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study. ( 23494656 )
2013
18
Hypervitaminosis D in guinea pigs with I+-mannosidosis. ( 23582422 )
2013
19
Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea. ( 22362938 )
2012
20
Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of I+-Mannosidosis. ( 23430902 )
2012
21
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients. ( 21552297 )
2012
22
Severe periodontal destruction in alpha-mannosidosis: a case series. ( 23211899 )
2012
23
Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis. ( 22775975 )
2012
24
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )
2012
25
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. ( 22161967 )
2012
26
Retinal dystrophy in 2 brothers with I+-Mannosidosis. ( 21670350 )
2011
27
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. ( 21505070 )
2011
28
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment. ( 21541723 )
2011
29
Clinical utility gene card for: I+-mannosidosis. ( 21368911 )
2011
30
Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in I+-mannosidosis. ( 21157375 )
2011
31
Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients. ( 22023421 )
2011
32
Human I+-mannosidase produced in transgenic tobacco plants is processed in human I+-mannosidosis cell lines. ( 21645202 )
2011
33
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
34
Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats. ( 19743435 )
2010
35
Impaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis. ( 19884343 )
2010
36
The guinea pig as an animal model for Ipomoea carnea induced alpha-mannosidosis. ( 19393259 )
2009
37
Cemented total hip arthroplasty in a patient with alpha-mannosidosis: a case report. ( 19462374 )
2009
38
In utero transplantation of monocytic cells in cats with alpha-mannosidosis. ( 19667933 )
2009
39
Beta-mannosidosis: a new cause of spinocerebellar ataxia. ( 18980795 )
2009
40
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. ( 18713755 )
2008
41
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations. ( 18565776 )
2008
42
Behavioural characterisation of the alpha-mannosidosis guinea pig. ( 17889945 )
2008
43
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
44
Alpha-mannosidosis. ( 18651971 )
2008
45
Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis. ( 17882013 )
2007
46
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. ( 16919251 )
2007
47
Early onset alpha-mannosidosis with slow progression in three Hispanic males. ( 17979865 )
2007
48
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. ( 17420068 )
2007
49
Morphopathological features in tissues of alpha-mannosidosis guinea pigs at different gestational ages. ( 17854439 )
2007
50
Beta-mannosidosis mice: a model for the human lysosomal storage disease. ( 16377659 )
2006

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 extracellular exosome GO:0070062 9.97 CNP CTBS CTSA GAA HEXA MAN2B1
2 mitochondrial outer membrane GO:0005741 9.54 BCL2 CNP MAOA
3 myelin sheath GO:0043209 9.46 BCL2 CNP MAG MBP
4 lysosomal lumen GO:0043202 9.43 CTSA GAA HEXA MAN2B1 MANBA SGSH
5 myelin sheath adaxonal region GO:0035749 9.26 CNP MAG
6 lysosome GO:0005764 9.23 CTBS CTSA GAA HEXA MAN2B1 MANBA

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

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.67 CTSA GAA MAN2B1 MANBA
2 response to toxic substance GO:0009636 9.5 BCL2 CNP MBP
3 metabolic process GO:0008152 9.5 CTBS GAA HEXA MAN2B1 MANBA NAGA
4 oligosaccharide catabolic process GO:0009313 9.33 CTBS MAN2B1 MANBA
5 regulation of mitochondrial membrane permeability GO:0046902 9.26 BCL2 CNP
6 carbohydrate metabolic process GO:0005975 9.17 CTBS GAA HEXA MAN2B1 MANBA MGAT4C

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.61 CNP CTBS CTSA GAA HEXA MAN2B1
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.33 GAA MAN2B1 NAGA
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.1 CTBS GAA HEXA 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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