MCID: MNN018
MIFTS: 46

Mannosidosis malady

Genetic diseases, Metabolic diseases, Neuronal diseases, Bone diseases, Fetal diseases, Rare diseases, Eye diseases categories
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Summaries for Mannosidosis

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Wikipedia:65 Mannosidosis is a deficiency in mannosidase, an enzyme. more...

MalaCards based summary: Mannosidosis, also known as mannosidase deficiency diseases, is related to alpha-mannosidosis and beta-mannosidosis. An important gene associated with Mannosidosis is MAN2B1 (mannosidase, alpha, class 2B, member 1), and among its related pathways are Glycosaminoglycan degradation and Glycosphingolipid biosynthesis - globo series. The compounds Tetrahexosylceramide (d18:1/12:0) and man5glcnac2 have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Aliases & Classifications for Mannosidosis

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Mannosidosis, Aliases & Descriptions:

Name: Mannosidosis 30 44
 
Mannosidase Deficiency Diseases 62


Classifications:



Related Diseases for Mannosidosis

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Graphical network of the top 20 diseases related to Mannosidosis:



Diseases related to mannosidosis

Symptoms for Mannosidosis

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Drugs & Therapeutics for Mannosidosis

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Drug clinical trials:

Search ClinicalTrials for Mannosidosis

Search NIH Clinical Center for Mannosidosis

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
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, PMID: 9828244

Genetic Tests for Mannosidosis

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Anatomical Context for Mannosidosis

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MalaCards organs/tissues related to Mannosidosis:

32
Bone, Bone marrow, Brain, Kidney, Thyroid, Spinal cord, Testes, Monocytes, T cells

Animal Models for Mannosidosis or affiliated genes

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MGI Mouse Phenotypes related to Mannosidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6SGSH, HEXA, MAN2B1, MAN2A1, MANBA, MAN2A2
2MP:00053708.3SGSH, HEXA, MAN2B1, MAN2A1, MANBA, MAN2A2

Publications for Mannosidosis

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Articles related to Mannosidosis:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
A Clinically Severe Variant of I^-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus. (23588843)
2013
2
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in I+-Mannosidosis. (23613340)
2013
3
Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea. (22362938)
2012
4
Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of I+-Mannosidosis. (23430902)
2012
5
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. (22161967)
2012
6
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment. (21541723)
2011
7
Retinal dystrophy in 2 brothers with I+-Mannosidosis. (21670350)
2011
8
Human I+-mannosidase produced in transgenic tobacco plants is processed in human I+-mannosidosis cell lines. (21645202)
2011
9
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
10
The guinea pig as an animal model for Ipomoea carnea induced alpha-mannosidosis. (19393259)
2009
11
In utero transplantation of monocytic cells in cats with alpha-mannosidosis. (19667933)
2009
12
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. (16919251)
2007
13
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. (15035660)
2004
14
Sisters with alpha-mannosidosis and systemic lupus erythematosus. (14760529)
2004
15
Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study. (15269179)
2004
16
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. (12890191)
2003
17
T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis. (12900784)
2003
18
Late occurrence of chronic immune-mediated axonal polyneuropathy following bone marrow transplant for juvenile-onset alpha-mannosidosis. (14561998)
2003
19
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. (10571005)
1999
20
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. (9758606)
1998
21
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (9384606)
1998
22
Roles for biochemical and polymerase chain reaction technologies in diagnosis and control of bovine alpha-mannosidosis. (9830573)
1998
23
Alpha-mannosidosis: functional cloning of the lysosomal alpha- mannosidase cDNA and identification of a mutation in two affected siblings. (9158146)
1997
24
Hyperphagia in patients with alpha-mannosidosis type II. (9323579)
1997
25
Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. (9396732)
1997
26
Development and efficacy of ultrasound-guided fetal fluid aspiration techniques for prenatal diagnosis of caprine beta-mannosidosis. (16727750)
1995
27
Myelin-associated glycoprotein (MAG) in myelin deficiency of caprine beta-mannosidosis. (7691380)
1993
28
Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle. (8293984)
1993
29
Beta-mannosidosis and ethanolaminuria in a female patient. (1499588)
1992
30
Beta-mannosidosis in Salers calves in Australia. (1642601)
1992
31
Mammalian beta-D-mannosidase and beta-mannosidosis. (1576208)
1992
32
Bovine plasma beta-mannosidase activity and its potential use for beta-mannosidosis carrier detection. (1457547)
1992
33
Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma. (1568314)
1992
34
Complementation studies in human and caprine beta-mannosidosis. (1861455)
1991
35
The substrate-specificity of human lysosomal alpha-D-mannosidase in relation to genetic alpha-mannosidosis. (1872811)
1991
36
Lectin histochemistry of the central nervous system in a case of feline alpha-mannosidosis. (2267428)
1990
37
Phenotypic variation in bovine alpha-mannosidosis. (2382061)
1990
38
Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis. (2370553)
1990
39
Investigation of dysmyelinogenesis in caprine beta-mannosidosis: in vitro characterization of oligodendrocytes. (2141598)
1990
40
Novel storage products in human beta-mannosidosis. (2122084)
1990
41
Morphology of leukocytes from cats affected with alpha-mannosidosis and mucopolysaccharidosis VI (MPS VI). (2503918)
1989
42
Ocular pathology of caprine beta-mannosidosis. (2588439)
1989
43
The clinical and pathologic heterogeneity of feline alpha-mannosidosis. (3230555)
1988
44
Bone marrow transplantation in the treatment of alpha-mannosidosis. (3314721)
1987
45
The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis. (4062743)
1985
46
Axonal and myelin lesions in beta-mannosidosis: ultrastructural characteristics. (4038839)
1985
47
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase. (7228876)
1981
48
Comparison of the alpha-mannosidases in fibroblast cultures from patients with mannosidosis and mucolipidosis II and from controls. (7396862)
1980
49
Metabolism of mannose and fucose in cultured fibroblasts from patients with mannosidosis and mucolipidosis. (478559)
1979
50
Mannosidosis and fucosidosis. (5450281)
1970

Variations for Mannosidosis

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Expression for genes affiliated with Mannosidosis

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Expression patterns in normal tissues for genes affiliated with Mannosidosis

Search GEO for disease gene expression data for Mannosidosis.

Pathways for genes affiliated with Mannosidosis

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Pathways related to Mannosidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8SGSH, HEXA
29.8NAGA, HEXA
39.1MAN1A2, MAN1B1, MAN1C1
48.9HEXA, MAN2B1, MANBA, SGSH, NAGA
58.5MAN2B2, MANBA, MAN2B1, MAN2C1, HEXA
6
Show member pathways
7.9MGAT4C, MAN2A2, MAN1B1, MAN1A2, MAN1C1, MAN2A1
7
Show member pathways
7.2MGAT4C, SGSH, HEXA, MAN2A1, MAN1C1, MAN1A2

Compounds for genes affiliated with Mannosidosis

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Sources:
24HMDB, 44Novoseek, 61Tocris Bioscience, 11DrugBank
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Compounds related to Mannosidosis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1Tetrahexosylceramide (d18:1/12:0)249.8NAGA, HEXA
2man5glcnac2449.7MAN2A1, MAN1A2
3glycolipid449.5HEXA, NAGA
4polysaccharide449.4MAN2B1, MAN2A1, MANBA
5mannose448.9MAN1A2, MANBA, MAN2B1, HEXA, MAN2A1
6D-Mannose248.8MAN1A2, MAN1C1, MAN2A1, MAN1B1
7Water247.5MAN1B1, MAN1C1, CNP, HEXA, MAN2A1, MAN1A2
81-deoxynojirimycin61 44 119.2MAN2C1, MAN2B1, MAN2A1, MAN1C1, MAN1A2, MAN1B1
9ogt 2115617.2MAN1B1, MAN2A2, MAN2B2, MAN1A2, MAN1C1, MAN2C1
101-deoxymannojirimycin hydrochloride617.2MAN2C1, MAN2B1, MAN2A1, MAN1C1, MAN1A2, MAN1B1
11kifunensine61 44 119.2MAN2C1, MAN2B2, MAN2A1, MAN1C1, MAN1A2, MAN1B1
12miglitol61 44 119.1MAN2B2, MAN2A2, MAN1B1, MAN1A2, MAN1C1, MAN2A1

GO Terms for genes affiliated with Mannosidosis

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Cellular components related to Mannosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.8HEXA, SGSH
2lysosomeGO:0057648.7NAGA, MAN2B1, MANBA, MAN2B2
3Golgi membraneGO:0001398.1MAN2A2, MAN1A2, MAN1C1, MAN2A1, MGAT4C

Biological processes related to Mannosidosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1oligosaccharide metabolic processGO:0093119.8MAN1B1, NAGA
2N-glycan processingGO:0064919.8MAN1A2, MAN2A1
3respiratory gaseous exchangeGO:0075859.7MAN1A2, MAN2A1
4lung alveolus developmentGO:0482869.4MAN1A2, MAN2A1
5protein N-linked glycosylationGO:0064879.3MAN1B1, MAN1C1
6mannose metabolic processGO:0060138.6MAN2B2, MAN2A2, MAN2A1, MAN2B1, MAN2C1
7protein N-linked glycosylation via asparagineGO:0182798.1MAN1B1, MAN1A2, MAN1C1, MAN2A1, MGAT4C, MAN2A2
8post-translational protein modificationGO:0436878.1MAN1C1, MAN2A1, MAN1A2, MAN1B1, MAN2A2, MGAT4C
9cellular protein metabolic processGO:0442678.0MAN1A2, MAN1C1, MAN2A1, MAN2A2, MGAT4C, MAN1B1

Molecular functions related to Mannosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activityGO:0045729.7MAN2A1, MAN2A2
2hydrolase activity, hydrolyzing N-glycosyl compoundsGO:0167999.5MAN2A1, MAN2A2
3alpha-mannosidase activityGO:0045599.2MAN2B2, MAN2B1, MAN2C1
4mannosyl-oligosaccharide 1,2-alpha-mannosidase activityGO:0045719.1MAN1B1, MAN1A2, MAN1C1
5carbohydrate bindingGO:0302468.4MAN2B1, MAN2A1, MAN2A2, MAN2B2, MAN2C1
6zinc ion bindingGO:0082708.4MAN2B2, MAN2C1, MAN2B1, MAN2A2, MAN2A1

Products for genes affiliated with Mannosidosis

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Sources for Mannosidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet