MCID: BTM001
MIFTS: 53

Beta-Mannosidosis malady

Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Beta-Mannosidosis

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Disease Ontology:8 A lysosomal storage disease that has material basis in deficiency of the beta-a-manosidase enzyme resulting in the disruption of n-linked glycoprotein oligosaccharide catabolism.

MalaCards: Beta-Mannosidosis, also known as lysosomal beta-mannosidase deficiency, is related to angiokeratoma and lysosomal storage disease, and has symptoms including absent/hypotonic/flaccid abdominal wall muscles, facial dysmorphism and repeat respiratory infections. An important gene associated with Beta-Mannosidosis is MANBA (mannosidase, beta A, lysosomal), and among its related pathways are Other glycan degradation and O-linked glycosylation of mucins. The compound polysaccharide have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and thyroid, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

Genetics Home Reference:21 Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.

Wikipedia:63 Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide... more...

Description from OMIM:46 248510

Aliases & Classifications for Beta-Mannosidosis

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Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 60UMLS, 22GTR, 9diseasecard, 20GeneTests, 46OMIM, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
beta-mannosidosis:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

beta-mannosidosis 8 21 10 48 60
lysosomal beta-mannosidase deficiency 8 21 60
beta-mannosidase deficiency 8 21 48
beta-d-mannosidosis 8 22 21
mannosidosis, beta 9 20 46
mannosidase deficiency diseases 60
lysosomal beta a mannosidosis 21


External Ids:

Disease Ontology8 DOID:3633
MeSH34 D044905
OMIM46 248510
NCIt39 C84596
SNOMED-CT56 238047006
MESH via Orphanet35 D044905
ICD10 via Orphanet26 E77.1
SNOMED-CT via Orphanet57 238047006
UMLS via Orphanet61 C0342849

Related Diseases for Beta-Mannosidosis

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Beta-Mannosidosis:



Diseases related to beta-mannosidosis

Clinical Features for Beta-Mannosidosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

248510

Clinical synopsis from OMIM:

248510

Symptoms:

48 (show all 7)
  • absent/hypotonic/flaccid abdominal wall muscles
  • facial dysmorphism
  • repeat respiratory infections
  • hearing loss/hypoacusia/deafness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal recessive inheritance

Drugs & Therapeutics for Beta-Mannosidosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Beta-Mannosidosis

Drug clinical trials:

Search ClinicalTrials for Beta-Mannosidosis

Search NIH Clinical Center for Beta-Mannosidosis

Search CenterWatch for Beta-Mannosidosis

Genetic Tests for Beta-Mannosidosis

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

id Genetic test Affiliating Genes
1 Beta-Mannosidosis20 MANBA
2 Beta-D-Mannosidosis22

Anatomical Context for Beta-Mannosidosis

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

32
Bone, Kidney, Thyroid, Brain

Animal Models for Beta-Mannosidosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Beta-Mannosidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3GCNT4, GCNT1, MANBA, MAN2B1, SGSH
2MP:00053817.7CNP, MAN2B1, MANBA, GCNT1, GCNT4
3MP:00053877.4SGSH, GCNT4, GCNT1, MANBA, MAN2B1, CNP
4MP:00053977.3MANBA, GCNT4, GCNT1, MAN2B1, CNP, SGSH
5MP:00053867.1GCNT4, GCNT1, MANBA, MAN2B1, CNP, SGSH

Publications for Beta-Mannosidosis

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50PubMed
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Articles related to Beta-Mannosidosis:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Beta-mannosidosis: a new cause of spinocerebellar ataxia. (18980795)
2009
2
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations. (18565776)
2008
3
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. (17420068)
2007
4
Molecular analysis in two beta-mannosidosis patients: description of a new adult case. (16904924)
2006
5
Beta-mannosidosis with angiokeratoma corporis diffusum. (15729869)
2004
6
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. (12890191)
2003
7
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. (12468273)
2002
8
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (9384606)
1998
9
Biochemical and morphological expression of early prenatal caprine beta-mannosidosis. (9203214)
1997
10
Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis. (8921369)
1996
11
mRNA levels for central nervous system myelin proteins in myelin deficiency of caprine beta-mannosidosis. (8821484)
1996
12
Development and efficacy of ultrasound-guided fetal fluid aspiration techniques for prenatal diagnosis of caprine beta-mannosidosis. (16727750)
1995
13
Biochemical and histochemical analysis of lysosomal enzyme activities in caprine beta-mannosidosis. (8179772)
1994
14
Myelin-associated glycoprotein (MAG) in myelin deficiency of caprine beta-mannosidosis. (7691380)
1993
15
Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle. (8293984)
1993
16
Caprine beta-mannosidosis: aberrant phenotype in a 5-month-old euthyroid animal. (8295417)
1993
17
Ubiquitinated inclusions in brains from Salers calves with beta-mannosidosis. (8212463)
1993
18
Animal model of human disease. Bovine beta-mannosidosis. (8456950)
1993
19
Beta-mannosidosis and ethanolaminuria in a female patient. (1499588)
1992
20
Mammalian beta-D-mannosidase and beta-mannosidosis. (1576208)
1992
21
Bovine plasma beta-mannosidase activity and its potential use for beta-mannosidosis carrier detection. (1457547)
1992
22
Caprine beta-mannosidosis: regional differences in deficits of CNS myelin proteins. (1283736)
1992
23
Prenatal analyses in a pregnancy at risk for beta-mannosidosis. (1475254)
1992
24
The ocular and otic pathology of bovine beta-mannosidosis. (1554780)
1992
25
Determination of sequence and linkage of tissue oligosaccharides in caprine beta-mannosidosis by fast atom bombardment, collisionally activated dissociation tandem mass spectrometry. (1422131)
1992
26
Thyroid structure and function in bovine beta-mannosidosis. (1886407)
1991
27
Beta-mannosidosis in twelve Salers calves. (1995562)
1991
28
Neuropathology of bovine beta-mannosidosis. (1895144)
1991
29
Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis. (2370553)
1990
30
Investigation of dysmyelinogenesis in caprine beta-mannosidosis: in vitro characterization of oligodendrocytes. (2141598)
1990
31
Novel storage products in human beta-mannosidosis. (2122084)
1990
32
Caprine beta-mannosidosis. Abnormal thyroid structure and function in a lysosomal storage disease. (2374396)
1990
33
Caprine beta-mannosidosis: development of glial and myelin abnormalities in optic nerve and corpus callosum. (2138133)
1990
34
Sialyl-alpha 2-6-mannosyl-beta 1-4-N-acetylglucosamine, a novel compound occurring in urine of patients with beta-mannosidosis. (2246252)
1990
35
Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients. (2116550)
1990
36
Beta-mannosidosis in two brothers with hearing loss. (3141715)
1988
37
Dysmyelinogenesis in caprine beta-mannosidosis: ultrastructural and morphometric studies in fetal optic nerve. (3503502)
1987
38
Beta-mannosidosis: prenatal detection of caprine allantoic fluid oligosaccharides with thin layer, gel permeation and high performance liquid chromatography. (3088329)
1986
39
Inheritance of beta-mannosidosis in goats. (3740554)
1986
40
The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis. (4062743)
1985
41
Axonal and myelin lesions in beta-mannosidosis: ultrastructural characteristics. (4038839)
1985
42
Caprine beta-Mannosidosis in Kids from an Ontario Herd. (17422528)
1985
43
Beta-mannosidosis: prenatal biochemical and morphological characteristics. (6434833)
1984
44
Caprine beta-mannosidosis: clinical and pathological features. (6842266)
1983
45
Beta-mannosidosis: lesions of the distal peripheral nervous system. (6637401)
1983
46
Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharides. (6882792)
1983
47
Caprine alpha- and beta-mannosidase activities: effects of age, sex, and reproductive status and potential use in heterozygote detection of beta-mannosidosis. (6869966)
1983
48
Distribution of central nervous system lesions in beta-mannosidosis. (6659869)
1983
49
Plasma alpha- and beta-mannosidase activities in caprine beta-mannosidosis. (7103175)
1982
50
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase. (7228876)
1981

Genetic Variations for Beta-Mannosidosis

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Expression for genes affiliated with Beta-Mannosidosis

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

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Pathways for genes affiliated with Beta-Mannosidosis

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29KEGG, 53Reactome
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Pathways related to Beta-Mannosidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7MAN2B1, MANBA
2
Hide members
9.3GCNT1, GCNT4
39.0SGSH, NAGA, MAN2B1, MANBA

Compounds for genes affiliated with Beta-Mannosidosis

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44Novoseek
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Compounds related to Beta-Mannosidosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polysaccharide449.2MAN2B1, MANBA, GCNT1

GO Terms for genes affiliated with Beta-Mannosidosis

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.0NAGA, MAN2B1, MANBA
2Golgi membraneGO:0001398.8MGAT4C, GCNT1, GCNT4

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

idNameGO IDScoreTop Affiliating Genes
1tissue morphogenesisGO:0487299.4GCNT1, GCNT4
2kidney morphogenesisGO:0609939.3GCNT1, GCNT4
3O-glycan processingGO:0162669.3GCNT1, GCNT4
4carbohydrate metabolic processGO:0059758.9SGSH, MANBA, GCNT4
5post-translational protein modificationGO:0436878.7GCNT4, GCNT1, MGAT4C

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

idNameGO IDScoreTop Affiliating Genes
1beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activityGO:0038299.3GCNT1, GCNT4

Products for genes affiliated with Beta-Mannosidosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Beta-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