MCID: MNN018
MIFTS: 41

Mannosidosis malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases categories

Aliases & Classifications for Mannosidosis

About this section
Sources:
60UMLS, 30LifeMap Discovery®, 43Novoseek
See all sources

Mannosidosis, Aliases & Descriptions:

Name: Mannosidosis 30 43
Mannosidase Deficiency Diseases 60
 
Alpha-Mannosidosis 60


Classifications:



Summaries for Mannosidosis

About this section


Wikipedia:63 Mannosidosis is a deficiency in mannosidase, an enzyme. more...

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

Related Diseases for Mannosidosis

About this section

Graphical network of the top 20 diseases related to Mannosidosis:



Diseases related to mannosidosis

Symptoms for Mannosidosis

About this section

Drugs & Therapeutics for Mannosidosis

About this section

Drug clinical trials:

Search ClinicalTrials for Mannosidosis

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, PMID: 9828244

Genetic Tests for Mannosidosis

About this section

Anatomical Context for Mannosidosis

About this section

MalaCards organs/tissues related to Mannosidosis:

31
Bone, Bone marrow, Brain, Kidney, Thyroid, Cortex, Spinal cord, Testes, Monocytes, T cells

Animal Models for Mannosidosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Mannosidosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6HEXA, MAN2B1, MAN2A1, MANBA, MAN2A2, SGSH
2MP:00053708.3MAN2A2, MANBA, MAN2A1, MAN2B1, HEXA, SGSH

Publications for Mannosidosis

About this section

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
Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats. (19743435)
2010
10
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
11
The guinea pig as an animal model for Ipomoea carnea induced alpha-mannosidosis. (19393259)
2009
12
In utero transplantation of monocytic cells in cats with alpha-mannosidosis. (19667933)
2009
13
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. (16919251)
2007
14
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. (15035660)
2004
15
Sisters with alpha-mannosidosis and systemic lupus erythematosus. (14760529)
2004
16
Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study. (15269179)
2004
17
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. (12890191)
2003
18
T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis. (12900784)
2003
19
Late occurrence of chronic immune-mediated axonal polyneuropathy following bone marrow transplant for juvenile-onset alpha-mannosidosis. (14561998)
2003
20
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. (10571005)
1999
21
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. (9758606)
1998
22
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (9384606)
1998
23
Roles for biochemical and polymerase chain reaction technologies in diagnosis and control of bovine alpha-mannosidosis. (9830573)
1998
24
Alpha-mannosidosis: functional cloning of the lysosomal alpha- mannosidase cDNA and identification of a mutation in two affected siblings. (9158146)
1997
25
Hyperphagia in patients with alpha-mannosidosis type II. (9323579)
1997
26
Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. (9396732)
1997
27
Development and efficacy of ultrasound-guided fetal fluid aspiration techniques for prenatal diagnosis of caprine beta-mannosidosis. (16727750)
1995
28
Myelin-associated glycoprotein (MAG) in myelin deficiency of caprine beta-mannosidosis. (7691380)
1993
29
Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle. (8293984)
1993
30
Beta-mannosidosis and ethanolaminuria in a female patient. (1499588)
1992
31
Beta-mannosidosis in Salers calves in Australia. (1642601)
1992
32
Mammalian beta-D-mannosidase and beta-mannosidosis. (1576208)
1992
33
Bovine plasma beta-mannosidase activity and its potential use for beta-mannosidosis carrier detection. (1457547)
1992
34
Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma. (1568314)
1992
35
Complementation studies in human and caprine beta-mannosidosis. (1861455)
1991
36
The substrate-specificity of human lysosomal alpha-D-mannosidase in relation to genetic alpha-mannosidosis. (1872811)
1991
37
Lectin histochemistry of the central nervous system in a case of feline alpha-mannosidosis. (2267428)
1990
38
Phenotypic variation in bovine alpha-mannosidosis. (2382061)
1990
39
Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis. (2370553)
1990
40
Investigation of dysmyelinogenesis in caprine beta-mannosidosis: in vitro characterization of oligodendrocytes. (2141598)
1990
41
Novel storage products in human beta-mannosidosis. (2122084)
1990
42
Morphology of leukocytes from cats affected with alpha-mannosidosis and mucopolysaccharidosis VI (MPS VI). (2503918)
1989
43
Ocular pathology of caprine beta-mannosidosis. (2588439)
1989
44
The clinical and pathologic heterogeneity of feline alpha-mannosidosis. (3230555)
1988
45
Bone marrow transplantation in the treatment of alpha-mannosidosis. (3314721)
1987
46
The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis. (4062743)
1985
47
Axonal and myelin lesions in beta-mannosidosis: ultrastructural characteristics. (4038839)
1985
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

About this section

Expression for genes affiliated with Mannosidosis

About this section
Search GEO for disease gene expression data for Mannosidosis.

Pathways for genes affiliated with Mannosidosis

About this section

Pathways related to Mannosidosis according to GeneCards Suite gene sharing:

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

About this section
Sources:
24HMDB, 43Novoseek, 59Tocris Bioscience, 12DrugBank
See all sources

Compounds related to Mannosidosis according to GeneCards Suite gene sharing:

(show all 12)
idCompoundScoreTop Affiliating Genes
1Tetrahexosylceramide (d18:1/12:0)249.8HEXA, NAGA
2man5glcnac2439.7MAN1A2, MAN2A1
3glycolipid439.5HEXA, NAGA
4polysaccharide439.4MAN2B1, MAN2A1, MANBA
5mannose438.9HEXA, MAN2B1, MAN2A1, MANBA, MAN1A2
6D-Mannose248.8MAN2A1, MAN1C1, MAN1A2, MAN1B1
7Water247.5NAGA, HEXA, CNP, MAN2A1, MAN1C1, MAN1A2
81-deoxynojirimycin59 43 129.2MAN2C1, MAN2B1, MAN2A1, MAN1C1, MAN1A2, MAN1B1
9ogt 2115597.2MAN1C1, MAN1A2, MAN1B1, MAN2A2, MAN2B2, MAN2A1
101-deoxymannojirimycin hydrochloride597.2MAN2C1, MAN2B1, MAN2A1, MAN1C1, MAN1A2, MAN1B1
11miglitol59 43 129.2MAN2C1, MAN2B1, MAN2A1, MAN1C1, MAN1A2, MAN1B1
12kifunensine59 43 129.1MAN2B2, MAN2A2, MAN1B1, MAN2C1, MAN2B1, MAN2A1

GO Terms for genes affiliated with Mannosidosis

About this section

Cellular components related to Mannosidosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.8HEXA, SGSH
2lysosomeGO:00057648.7NAGA, MAN2B1, MANBA, MAN2B2
3Golgi membraneGO:00001398.1MAN2A2, MAN1A2, MAN1C1, MAN2A1, MGAT4C

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1oligosaccharide metabolic processGO:00093119.8MAN1B1, NAGA
2N-glycan processingGO:00064919.8MAN1A2, MAN2A1
3respiratory gaseous exchangeGO:00075859.7MAN1A2, MAN2A1
4lung alveolus developmentGO:00482869.4MAN1A2, MAN2A1
5protein N-linked glycosylationGO:00064879.3MAN1B1, MAN1C1
6mannose metabolic processGO:00060138.6MAN2B2, MAN2A2, MAN2A1, MAN2B1, MAN2C1
7protein N-linked glycosylation via asparagineGO:00182798.1MAN1B1, MAN1A2, MAN1C1, MAN2A1, MGAT4C, MAN2A2
8post-translational protein modificationGO:00436878.1MAN1C1, MAN2A1, MAN1A2, MAN1B1, MAN2A2, MGAT4C
9cellular protein metabolic processGO:00442678.0MAN1A2, MAN1C1, MAN2A1, MAN2A2, MGAT4C, MAN1B1

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

idNameGO IDScoreTop Affiliating Genes
1mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activityGO:00045729.7MAN2A1, MAN2A2
2hydrolase activity, hydrolyzing N-glycosyl compoundsGO:00167999.5MAN2A1, MAN2A2
3alpha-mannosidase activityGO:00045599.2MAN2B2, MAN2B1, MAN2C1
4mannosyl-oligosaccharide 1,2-alpha-mannosidase activityGO:00045719.1MAN1B1, MAN1A2, MAN1C1
5carbohydrate bindingGO:00302468.4MAN2B1, MAN2A1, MAN2A2, MAN2B2, MAN2C1
6zinc ion bindingGO:00082708.4MAN2B2, MAN2C1, MAN2B1, MAN2A2, MAN2A1

Products for genes affiliated with Mannosidosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mannosidosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet