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, Testes, Brain, Monocytes, T cells, Cortex

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
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
Natural history of alpha mannosidosis a longitudinal study. (23786919)
2013
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
Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis. (22775975)
2012
8
Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients. (22023421)
2011
9
Impaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis. (19884343)
2010
10
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
11
Morphopathological features in tissues of alpha-mannosidosis guinea pigs at different gestational ages. (17854439)
2007
12
Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis. (17882013)
2007
13
Enzyme replacement therapy in alpha-mannosidosis guinea-pigs. (16807033)
2006
14
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. (15712269)
2005
15
Psychiatric symptoms in alpha-mannosidosis. (16207285)
2005
16
Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. (15035660)
2004
17
Sisters with alpha-mannosidosis and systemic lupus erythematosus. (14760529)
2004
18
Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study. (15269179)
2004
19
Destructive joint disease in alpha-mannosidosis. A case report and review of the literature. (14749981)
2004
20
Late occurrence of chronic immune-mediated axonal polyneuropathy following bone marrow transplant for juvenile-onset alpha-mannosidosis. (14561998)
2003
21
Alpha-mannosidosis and mutational analysis in a Turkish patient. (12718372)
2003
22
alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis. (11959458)
2002
23
Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis. (11487056)
2001
24
Alpha-mannosidosis in the guinea pig: a new animal model for lysosomal storage disorders. (10541310)
1999
25
Spectrum of mutations in alpha-mannosidosis. (9915946)
1999
26
Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis. (10400983)
1999
27
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. (9758606)
1998
28
Roles for biochemical and polymerase chain reaction technologies in diagnosis and control of bovine alpha-mannosidosis. (9830573)
1998
29
Bone marrow transplantation for the treatment of alpha-mannosidosis. (9709723)
1998
30
Alpha-mannosidosis: functional cloning of the lysosomal alpha- mannosidase cDNA and identification of a mutation in two affected siblings. (9158146)
1997
31
Hyperphagia in patients with alpha-mannosidosis type II. (9323579)
1997
32
Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. (9396732)
1997
33
Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis. (9208932)
1997
34
Neurology of adult alpha-mannosidosis. (8676143)
1996
35
Alpha-mannosidosis: the first Turkish case. (7793263)
1995
36
Alpha-mannosidosis. Report of a case with morphologic, cytologic and immunohistochemical considerations. (8191839)
1994
37
Alpha-Mannosidosis (20301570)
1993
38
Oral zinc therapy in the treatment of alpha-mannosidosis. (8357013)
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
First-trimester diagnosis of an unusual case of alpha-mannosidosis. (1832757)
1991
43
Ectopic dendrites occur only on cortical pyramidal cells containing elevated GM2 ganglioside in alpha-mannosidosis. (1763046)
1991
44
The substrate specificity of bovine and feline lysosomal alpha-D-mannosidases in relation to alpha-mannosidosis. (1885586)
1991
45
The clinical and pathologic heterogeneity of feline alpha-mannosidosis. (3230555)
1988
46
Bone marrow transplantation in the treatment of alpha-mannosidosis. (3314721)
1987
47
Alpha-mannosidosis in a Persian cat. (3804848)
1986
48
Structural analysis of the major urinary oligosaccharides in feline alpha-mannosidosis. (3707532)
1986
49
Alpha-mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation. (6705257)
1984
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