MCID: ALP002
MIFTS: 51

Alpha-Mannosidosis malady

Summaries for Alpha-Mannosidosis

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Signs and symptoms of alpha-mannosidosis include intellectual disability; distinctive facial features; and skeletal abnormalities such as reduced bone density (osteopenia), thickening of the bones at the top of the skull (calvaria), deformations of the bones in the spine (vertebrae), bowed legs or knock knees, and deterioration of the bones and joints. Characteristic facial features include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue.

MalaCards: Alpha-Mannosidosis, also known as deficiency of alpha-mannosidase, is related to beta-mannosidosis and alpha mannosidosis type 2. An important gene associated with Alpha-Mannosidosis is MAN2B1 (mannosidase, alpha, class 2B, member 1), and among its related pathways are Lysosome and Other glycan degradation. The compounds ogt 2115 and 1-deoxymannojirimycin hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and bone marrow, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Disease Ontology:8 A lysosomal storage disease that has material basis in deficiency of the alpha-d-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.

Wikipedia:63 Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme... more...

Description from OMIM:46 248500

GeneReviews summary for a-mannosidosis

Aliases & Classifications for Alpha-Mannosidosis

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8Disease Ontology, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 46OMIM
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Aliases & Descriptions:

alpha-mannosidosis 8 19 20 21 10 30 60
deficiency of alpha-mannosidase 8 22 21
lysosomal alpha-d-mannosidase deficiency 19 21
alpha-mannosidase deficiency 8 21
alpha-d-mannosidosis 8 21
mannosidosis 21 44
mannosidase deficiency diseases 60
lysosomal alpha b mannosidosis 21
alpha-mannosidase b deficiency 21


External Ids:

Disease Ontology8 DOID:3413
MeSH34 D008363
SNOMED-CT56 124466001, 65524005
NCIt39 C84548
OMIM46 248500

Related Diseases for Alpha-Mannosidosis

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Alpha-Mannosidosis:



Diseases related to alpha-mannosidosis

Clinical Features for Alpha-Mannosidosis

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46OMIM
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Clinical features from OMIM:

248500

Drugs & Therapeutics for Alpha-Mannosidosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Alpha-Mannosidosis

Drug clinical trials:

Search ClinicalTrials for Alpha-Mannosidosis

Search NIH Clinical Center for Alpha-Mannosidosis

Search CenterWatch for Alpha-Mannosidosis

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Alpha-Mannosidosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Alpha-Mannosidosis:
Enriched hematopoetic stem cell for inherited metabolic disorders
Hemacord
Embryonic/Adult Cultured Cells Related to Alpha-Mannosidosis:
Bone marrow-derived hematopoietic stem cells (family), PMID: 22430083
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244

Genetic Tests for Alpha-Mannosidosis

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20GeneTests, 22GTR
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Genetic tests related to Alpha-Mannosidosis:

id Genetic test Affiliating Genes
1 Alpha-Mannosidosis20 MAN2B1
2 Deficiency of Alpha-Mannosidase22

Anatomical Context for Alpha-Mannosidosis

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32MalaCards
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MalaCards organs/tissues related to Alpha-Mannosidosis:

32
Bone, Tongue, Bone marrow, Brain, Cortex, Testes, Monocytes, T cells

Animal Models for Alpha-Mannosidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alpha-Mannosidosis:

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

Publications for Alpha-Mannosidosis

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50PubMed
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Articles related to Alpha-Mannosidosis:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea. (22362938)
2012
2
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. (22161967)
2012
3
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients. (21552297)
2012
4
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment. (21541723)
2011
5
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. (21505070)
2011
6
Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients. (22023421)
2011
7
Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats. (19743435)
2010
8
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
9
The guinea pig as an animal model for Ipomoea carnea induced alpha-mannosidosis. (19393259)
2009
10
In utero transplantation of monocytic cells in cats with alpha-mannosidosis. (19667933)
2009
11
Cemented total hip arthroplasty in a patient with alpha-mannosidosis: a case report. (19462374)
2009
12
Behavioural characterisation of the alpha-mannosidosis guinea pig. (17889945)
2008
13
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. (18713755)
2008
14
Alpha-mannosidosis. (18651971)
2008
15
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
16
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. (16919251)
2007
17
Early onset alpha-mannosidosis with slow progression in three Hispanic males. (17979865)
2007
18
Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis. (16014715)
2005
19
Late-onset retinal dystrophy in alpha-mannosidosis. (16075219)
2005
20
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. (15035660)
2004
21
Sisters with alpha-mannosidosis and systemic lupus erythematosus. (14760529)
2004
22
Adult alpha-mannosidosis: clinical progression in the absence of demyelination. (15534274)
2004
23
Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. (15126988)
2004
24
T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis. (12900784)
2003
25
Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis. (14765545)
2003
26
Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. (11014473)
2000
27
Alpha-mannosidosis in the guinea pig: a new animal model for lysosomal storage disorders. (10541310)
1999
28
Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation. (10071201)
1999
29
Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister. (10447604)
1999
30
Spectrum of mutations in alpha-mannosidosis. (9915946)
1999
31
Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis. (10400983)
1999
32
Alpha-mannosidosis in a guinea pig. (10480650)
1999
33
Roles for biochemical and polymerase chain reaction technologies in diagnosis and control of bovine alpha-mannosidosis. (9830573)
1998
34
Alpha-mannosidosis: functional cloning of the lysosomal alpha- mannosidase cDNA and identification of a mutation in two affected siblings. (9158146)
1997
35
Molecular heterogeneity for bovine alpha-mannosidosis: PCR based assays for detection of breed-specific mutations. (9491457)
1997
36
Oral manifestations of alpha-mannosidosis: report of a case with ultrastructural findings. (7745547)
1995
37
Alpha-Mannosidosis (20301570)
1993
38
Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma. (1568314)
1992
39
The substrate-specificity of human lysosomal alpha-D-mannosidase in relation to genetic alpha-mannosidosis. (1872811)
1991
40
Different oligosaccharides accumulate in the brain and urine of a cat with alpha-mannosidosis: structure determination of five brain-derived and seventeen urinary oligosaccharides. (1668528)
1991
41
First-trimester diagnosis of an unusual case of alpha-mannosidosis. (1832757)
1991
42
Lectin histochemistry of the central nervous system in a case of feline alpha-mannosidosis. (2267428)
1990
43
Phenotypic variation in bovine alpha-mannosidosis. (2382061)
1990
44
Direct transfer in vitro of alpha-D-mannosidase activity from normal lymphocytes to fibroblasts of a patient with alpha-mannosidosis. (2122085)
1990
45
Morphology of leukocytes from cats affected with alpha-mannosidosis and mucopolysaccharidosis VI (MPS VI). (2503918)
1989
46
The accumulation of oligosaccharides in tissues and body fluids of cats with alpha-mannosidosis. (3203344)
1988
47
Bone marrow transplantation in the treatment of alpha-mannosidosis. (3314721)
1987
48
Structural analysis of the major urinary oligosaccharides in feline alpha-mannosidosis. (3707532)
1986
49
Ectopic dendritogenesis occurs on cortical pyramidal neurons in swainsonine-induced feline alpha-mannosidosis. (3924348)
1985
50
Control of alpha-mannosidosis in Angus cattle. (6615368)
1983

Genetic Variations for Alpha-Mannosidosis

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Expression for genes affiliated with Alpha-Mannosidosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alpha-Mannosidosis

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Pathways for genes affiliated with Alpha-Mannosidosis

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29KEGG
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Pathways related to Alpha-Mannosidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MAN2B1, MANBA, HEXA
29.1MAN2B1, MANBA, HEXA

Compounds for genes affiliated with Alpha-Mannosidosis

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59Tocris Bioscience, 44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Alpha-Mannosidosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ogt 2115599.7MAN2A1, MAN2B1
21-deoxymannojirimycin hydrochloride599.7MAN2A1, MAN2B1
3mannose 6-phosphate44 2410.6MAN2B1, HEXA
4kifunensine59 44 1111.6MAN2A1, MAN2B1
5miglitol44 59 1111.5MAN2B1, MAN2A1
61-deoxynojirimycin44 59 1111.4MAN2B1, MAN2A1
7polysaccharide448.7MAN2A1, MANBA, MAN2B1
8mannose448.1MAN2B1, MANBA, MAN2A1, UPK1A, HEXA

GO Terms for genes affiliated with Alpha-Mannosidosis

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16Gene Ontology
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Cellular components related to Alpha-Mannosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.5MAN2B1, MANBA

Biological processes related to Alpha-Mannosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular protein modification processGO:0064649.5MAN2B1, MANBA
2mannose metabolic processGO:0060139.2MAN2B1, MAN2A1

Molecular functions related to Alpha-Mannosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate bindingGO:0302469.5MAN2B1, MAN2A1

Products for genes affiliated with Alpha-Mannosidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet