MCID: ALP002
MIFTS: 54

Alpha-Mannosidosis malady

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

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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. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can 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. The skeletal abnormalities that can occur in this disorder include 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.

MalaCards based summary: Alpha-Mannosidosis, also known as deficiency of alpha-mannosidase, is related to beta-mannosidosis and mannosidosis. 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, tongue and bone marrow, and related mouse phenotypes are hearing/vestibular/ear 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:65 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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Alpha-Mannosidosis, Aliases & Descriptions:

Name: Alpha-Mannosidosis 30 8 19 20 21 10 62
Deficiency of Alpha-Mannosidase 8 22 21 62
Alpha-Mannosidase Deficiency 8 21 62
Lysosomal Alpha-D-Mannosidase Deficiency 19 21
Alpha-Mannosidase B Deficiency 21 62
 
Alpha-D-Mannosidosis 8 21
Mannosidosis 21 62
Mannosidosis, Alpha B, Lysosomal 62
Lysosomal Alpha B Mannosidosis 21


Classifications:



External Ids:

Disease Ontology8 DOID:3413
OMIM46 248500
SNOMED-CT57 124466001, 65524005
NCIt39 C84548
MeSH34 D008363

Related Diseases for Alpha-Mannosidosis

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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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Clinical features from OMIM:

248500

Drugs & Therapeutics for Alpha-Mannosidosis

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Drug clinical trials:

Search ClinicalTrials for Alpha-Mannosidosis

Search NIH Clinical Center 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
Embryonic/Adult Cultured Cells Related to Alpha-Mannosidosis:
Bone marrow-derived hematopoietic stem cells (family), PMID: 22430083

Genetic Tests for Alpha-Mannosidosis

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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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MalaCards organs/tissues related to Alpha-Mannosidosis:

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

Animal Models for Alpha-Mannosidosis or affiliated genes

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MGI Mouse Phenotypes related to Alpha-Mannosidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0MAN2B1, HEXA
2MP:00053708.6MANBA, MAN2B1, HEXA
3MP:00053678.5MANBA, MAN2B1, HEXA
4MP:00053868.4HEXA, MAN2B1, MANBA
5MP:00036318.2MANBA, MAN2B1, HEXA

Publications for Alpha-Mannosidosis

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Articles related to Alpha-Mannosidosis:

(show top 50)    (show all 83)
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
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment. (25345101)
2014
4
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study. (23494656)
2013
5
Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea. (22362938)
2012
6
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. (22161967)
2012
7
Severe periodontal destruction in alpha-mannosidosis: a case series. (23211899)
2012
8
Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment. (21541723)
2011
9
Molecular and cellular characterization of novel {alpha}-mannosidosis mutations. (21505070)
2011
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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Clinvar genetic disease variations for Alpha-Mannosidosis:

6
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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Expression patterns in normal tissues for genes affiliated with Alpha-Mannosidosis

Search GEO for disease gene expression data for Alpha-Mannosidosis.

Pathways for genes affiliated with Alpha-Mannosidosis

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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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Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Alpha-Mannosidosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polysaccharide449.3MANBA, MAN2B1
2mannose 6-phosphate44 249.7MAN2B1, HEXA
3mannose448.4MANBA, MAN2B1, HEXA

GO Terms for genes affiliated with Alpha-Mannosidosis

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet