MCID: ALP002
MIFTS: 54

Alpha-Mannosidosis malady

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

Summaries for Alpha-Mannosidosis

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9Disease Ontology, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Disease Ontology:9 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.

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 polysaccharide and mannose 6-phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related mouse phenotypes are hearing/vestibular/ear and liver/biliary system.

Wikipedia:66 Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme... more...

Description from OMIM:48 248500

GeneReviews summary for a-mannosidosis

Aliases & Classifications for Alpha-Mannosidosis

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9Disease Ontology, 20GeneReviews, 21GeneTests, 22Genetics Home Reference, 11DISEASES, 32LifeMap Discoveryā„¢, 63UMLS, 23GTR, 46Novoseek, 59SNOMED-CT, 41NCIt, 48OMIM, 36MeSH
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Classifications:



Aliases & Descriptions:

alpha-mannosidosis 9 20 21 22 11 32 63
deficiency of alpha-mannosidase 9 23 22
lysosomal alpha-d-mannosidase deficiency 20 22
alpha-mannosidase deficiency 9 22
alpha-d-mannosidosis 9 22
mannosidosis 22 46
mannosidase deficiency diseases 63
lysosomal alpha b mannosidosis 22
alpha-mannosidase b deficiency 22


External Ids:

Disease Ontology9 DOID:3413
NCIt41 C84548
SNOMED-CT59 65524005, 124466001
OMIM48 248500
MeSH36 D008363

Related Diseases for Alpha-Mannosidosis

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Alpha-Mannosidosis:



Diseases related to alpha-mannosidosis

Symptoms for Alpha-Mannosidosis

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48OMIM
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Clinical features from OMIM:

248500

Drugs & Therapeutics for Alpha-Mannosidosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Alpha-Mannosidosis:

id Genetic test Affiliating Genes
1 Alpha-Mannosidosis21 MAN2B1
2 Deficiency of Alpha-Mannosidase23

Anatomical Context for Alpha-Mannosidosis

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34MalaCards
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MalaCards organs/tissues related to Alpha-Mannosidosis:

34
Bone, Bone marrow, Brain, Cortex, Testes, Monocytes, T cells

Animal Models for Alpha-Mannosidosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Alpha-Mannosidosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0HEXA, MAN2B1
2MP:00053708.6HEXA, MAN2B1, MANBA
3MP:00053678.5HEXA, MAN2B1, MANBA
4MP:00053868.4HEXA, MAN2B1, MANBA
5MP:00036318.2MANBA, MAN2B1, HEXA

Publications for Alpha-Mannosidosis

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53PubMed
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Articles related to Alpha-Mannosidosis:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
The natural course and complications of alpha-mannosidosis-a retrospective and descriptive study. (23739775)
2014
2
Alpha-mannosidosis: a report of 2 siblings and review of the literature. (23307885)
2014
3
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study. (23494656)
2013
4
Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea. (22362938)
2012
5
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. (22161967)
2012
6
Severe periodontal destruction in alpha-mannosidosis: a case series. (23211899)
2012
7
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment. (21541723)
2011
8
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. (21505070)
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
Behavioural characterisation of the alpha-mannosidosis guinea pig. (17889945)
2008
14
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. (18713755)
2008
15
Alpha-mannosidosis. (18651971)
2008
16
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. (16919251)
2007
17
Morphopathological features in tissues of alpha-mannosidosis guinea pigs at different gestational ages. (17854439)
2007
18
Enzyme replacement therapy in alpha-mannosidosis guinea-pigs. (16807033)
2006
19
Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis. (16014715)
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
Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study. (15269179)
2004
23
Adult alpha-mannosidosis: clinical progression in the absence of demyelination. (15534274)
2004
24
Destructive joint disease in alpha-mannosidosis. A case report and review of the literature. (14749981)
2004
25
T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis. (12900784)
2003
26
Late occurrence of chronic immune-mediated axonal polyneuropathy following bone marrow transplant for juvenile-onset alpha-mannosidosis. (14561998)
2003
27
Alpha-mannosidosis and mutational analysis in a Turkish patient. (12718372)
2003
28
alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis. (11959458)
2002
29
Alpha-mannosidosis in the guinea pig: a new animal model for lysosomal storage disorders. (10541310)
1999
30
Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation. (10071201)
1999
31
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. (9758606)
1998
32
Roles for biochemical and polymerase chain reaction technologies in diagnosis and control of bovine alpha-mannosidosis. (9830573)
1998
33
Bone marrow transplantation for the treatment of alpha-mannosidosis. (9709723)
1998
34
Alpha-mannosidosis: functional cloning of the lysosomal alpha- mannosidase cDNA and identification of a mutation in two affected siblings. (9158146)
1997
35
Hyperphagia in patients with alpha-mannosidosis type II. (9323579)
1997
36
Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. (9396732)
1997
37
Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis. (9208932)
1997
38
Alpha-Mannosidosis (20301570)
1993
39
Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma. (1568314)
1992
40
First reported case of alpha-mannosidosis in the RSA. (1509325)
1992
41
The substrate-specificity of human lysosomal alpha-D-mannosidase in relation to genetic alpha-mannosidosis. (1872811)
1991
42
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
43
First-trimester diagnosis of an unusual case of alpha-mannosidosis. (1832757)
1991
44
Lectin histochemistry of the central nervous system in a case of feline alpha-mannosidosis. (2267428)
1990
45
Phenotypic variation in bovine alpha-mannosidosis. (2382061)
1990
46
Morphology of leukocytes from cats affected with alpha-mannosidosis and mucopolysaccharidosis VI (MPS VI). (2503918)
1989
47
The clinical and pathologic heterogeneity of feline alpha-mannosidosis. (3230555)
1988
48
Bone marrow transplantation in the treatment of alpha-mannosidosis. (3314721)
1987
49
Alpha-mannosidosis in a Persian cat. (3804848)
1986
50
Ectopic dendritogenesis occurs on cortical pyramidal neurons in swainsonine-induced feline alpha-mannosidosis. (3924348)
1985

Variations for Alpha-Mannosidosis

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Alpha-Mannosidosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1MAN2B1NM_000528.3(MAN2B1): c.215A> T (p.His72Leu)single nucleotide variantPathogenicrs387906261GRCh37Chr 19, 12776564: 12776564
2MAN2B1NM_000528.3(MAN2B1): c.2278C> T (p.Arg760Ter)single nucleotide variantPathogenicrs121434331GRCh37Chr 19, 12760232: 12760232
3MAN2B1NM_000528.3(MAN2B1): c.1915C> T (p.Gln639Ter)single nucleotide variantPathogenicrs121434332GRCh37Chr 19, 12763190: 12763190
4MAN2B1NM_000528.3(MAN2B1): c.2248C> T (p.Arg750Trp)single nucleotide variantPathogenicrs80338680GRCh37Chr 19, 12760746: 12760746
5MAN2B1NM_000528.3(MAN2B1): c.1067C> G (p.Pro356Arg)single nucleotide variantPathogenicrs121434333GRCh37Chr 19, 12769284: 12769284
6MAN2B1NM_000528.3(MAN2B1): c.1830+1G> Csingle nucleotide variantPathogenicrs80338677GRCh37Chr 19, 12766507: 12766507
7MAN2B1NM_000528.3(MAN2B1): c.1831-2A> Gsingle nucleotide variantPathogenicrs80338678GRCh37Chr 19, 12763276: 12763276
8MAN2B1NM_000528.3(MAN2B1): c.2165+1G> Asingle nucleotide variantPathogenicrs80338679GRCh37Chr 19, 12760917: 12760917
9MAN2B1NM_000528.3(MAN2B1): c.2426T> C (p.Leu809Pro)single nucleotide variantPathogenicrs80338681GRCh37Chr 19, 12759960: 12759960

Expression for genes affiliated with Alpha-Mannosidosis

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2BioGPS, 16Gene 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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51PathCards, 31KEGG
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Pathways related to Alpha-Mannosidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5MANBA, MAN2B1, HEXA
28.5MANBA, MAN2B1, HEXA

Compounds for genes affiliated with Alpha-Mannosidosis

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46Novoseek, 25HMDB
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Compounds related to Alpha-Mannosidosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polysaccharide469.3MANBA, MAN2B1
2mannose 6-phosphate46 259.7MAN2B1, HEXA
3mannose468.4MANBA, MAN2B1, HEXA

GO Terms for genes affiliated with Alpha-Mannosidosis

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17Gene Ontology
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Cellular components related to Alpha-Mannosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.3MANBA, MAN2B1

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

idNameGO IDScoreTop Affiliating Genes
1cellular protein modification processGO:0064649.3MANBA, MAN2B1

Products for genes affiliated with Alpha-Mannosidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alpha-Mannosidosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet