MCID: BTM001
MIFTS: 49

Beta-Mannosidosis malady

Neuronal, Bone, Metabolic, Fetal categories

Summaries for Beta-Mannosidosis

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 alpha-mannosidosis and angiokeratoma, and has symptoms including autosomal recessive inheritance, seizures/epilepsy/absences/spasms/status epilepticus and intellectual deficit/mental/psychomotor retardation/learning disability. 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 brain, 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:64 Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide... more...

Description from OMIM:47 248510

Aliases & Classifications for Beta-Mannosidosis

Sources:
8Disease Ontology, 9diseasecard, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
beta-mannosidosis:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

beta-mannosidosis 8 21 10 49 61
lysosomal beta-mannosidase deficiency 8 21 61
beta-mannosidase deficiency 8 21 49
beta-d-mannosidosis 8 22 21
mannosidosis, beta 9 20 47
mannosidase deficiency diseases 61
lysosomal beta a mannosidosis 21


External Ids:

Disease Ontology8 DOID:3633
MeSH35 D044905
OMIM47 248510
NCIt40 C84596
SNOMED-CT57 238047006
MESH via Orphanet36 D044905
ICD10 via Orphanet26 E77.1
SNOMED-CT via Orphanet58 238047006
UMLS via Orphanet62 C0342849

Related Diseases for Beta-Mannosidosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Beta-Mannosidosis family:

alpha-mannosidosis alpha-mannosidosis type 1
alpha mannosidosis type 2 mannosidosis, alpha-, types i and ii

Diseases related to Beta-Mannosidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1alpha-mannosidosis30.6MAN2B1, MANBA
2angiokeratoma30.3MANBA, NAGA
3mannosidosis, beta a, lysosomal10.4
4fucosidosis10.1
5protein s deficiency10.1
6protein c deficiency10.1
7spinocerebellar ataxia10.1
8ataxia10.1
9fabry disease10.0NAGA
10lysosomal storage disease10.0NAGA, SGSH
11mast cell neoplasm10.0GCNT4, GCNT1

Graphical network of diseases related to Beta-Mannosidosis:



Diseases related to beta-mannosidosis

Clinical Features for Beta-Mannosidosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

248510

Clinical synopsis from OMIM:

248510

Symptoms:

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

Drugs & Therapeutics for Beta-Mannosidosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Beta-Mannosidosis:

id Genetic test Affiliating Genes
1 Beta-mannosidosis20 MANBA
2 Beta-d-mannosidosis22

Anatomical Context for Beta-Mannosidosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Beta-Mannosidosis:

33
Brain, Kidney, Thyroid, Fetal brain, Fetal thyroid

Animal Models for Beta-Mannosidosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Beta-Mannosidosis

Sources:
51PubMed
See all sources

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
Beta-mannosidosis mice: a model for the human lysosomal storage disease. (16377659)
2006
5
Molecular analysis in two beta-mannosidosis patients: description of a new adult case. (16904924)
2006
6
Beta-mannosidosis with angiokeratoma corporis diffusum. (15729869)
2004
7
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. (12468273)
2002
8
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. (10571005)
1999
9
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (9384606)
1998
10
Development and efficacy of ultrasound-guided fetal fluid aspiration techniques for prenatal diagnosis of caprine beta-mannosidosis. (16727750)
1995
11
Biochemical and histochemical analysis of lysosomal enzyme activities in caprine beta-mannosidosis. (8179772)
1994
12
Myelin-associated glycoprotein (MAG) in myelin deficiency of caprine beta-mannosidosis. (7691380)
1993
13
Animal model of human disease. Bovine beta-mannosidosis. (8456950)
1993
14
Bovine beta-mannosidosis: pathologic and genetic findings in Salers calves. (8470335)
1993
15
Beta-mannosidosis in Salers calves in Australia. (1642601)
1992
16
Mammalian beta-D-mannosidase and beta-mannosidosis. (1576208)
1992
17
Bovine plasma beta-mannosidase activity and its potential use for beta-mannosidosis carrier detection. (1457547)
1992
18
Human beta-mannosidosis: a 3-year-old boy with speech impairment and emotional instability. (1623631)
1992
19
Caprine beta-mannosidosis: regional differences in deficits of CNS myelin proteins. (1283736)
1992
20
Oligosaccharides accumulated in the bovine beta-mannosidosis kidney. (1583877)
1992
21
Prenatal analyses in a pregnancy at risk for beta-mannosidosis. (1475254)
1992
22
Complementation studies in human and caprine beta-mannosidosis. (1861455)
1991
23
Thyroid structure and function in bovine beta-mannosidosis. (1886407)
1991
24
Beta-mannosidosis in twelve Salers calves. (1995562)
1991
25
Neuropathology of bovine beta-mannosidosis. (1895144)
1991
26
Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis. (2370553)
1990
27
Investigation of dysmyelinogenesis in caprine beta-mannosidosis: in vitro characterization of oligodendrocytes. (2141598)
1990
28
Caprine beta-mannosidosis. Abnormal thyroid structure and function in a lysosomal storage disease. (2374396)
1990
29
Caprine beta-mannosidosis: development of glial and myelin abnormalities in optic nerve and corpus callosum. (2138133)
1990
30
Sialyl-alpha 2-6-mannosyl-beta 1-4-N-acetylglucosamine, a novel compound occurring in urine of patients with beta-mannosidosis. (2246252)
1990
31
beta-Mannosidosis in a Salers calf: a new storage disease of cattle. (16031588)
1990
32
Quantitative analysis of disaccharides in the urine of beta-mannosidosis patients. (2116550)
1990
33
Dysmyelinogenesis in caprine beta-mannosidosis: ultrastructural and morphometric studies in fetal optic nerve. (3503502)
1987
34
Caprine beta-mannosidosis: phenotypic features. (2939617)
1986
35
Beta-mannosidosis: prenatal detection of caprine allantoic fluid oligosaccharides with thin layer, gel permeation and high performance liquid chromatography. (3088329)
1986
36
Inheritance of beta-mannosidosis in goats. (3740554)
1986
37
The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis. (4062743)
1985
38
Axonal and myelin lesions in beta-mannosidosis: ultrastructural characteristics. (4038839)
1985
39
Structural characterization of novel complex oligosaccharides accumulated in the caprine beta-mannosidosis kidney. Occurrence of tetra- and pentasaccharides containing a beta-linked mannose residue at the nonreducing terminus. (4066670)
1985
40
Caprine beta-Mannosidosis in Kids from an Ontario Herd. (17422528)
1985
41
Beta-mannosidosis: prenatal biochemical and morphological characteristics. (6434833)
1984
42
Caprine beta-mannosidosis: clinical and pathological features. (6842266)
1983
43
Beta-mannosidosis: lesions of the distal peripheral nervous system. (6637401)
1983
44
Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharides. (6882792)
1983
45
Caprine alpha- and beta-mannosidase activities: effects of age, sex, and reproductive status and potential use in heterozygote detection of beta-mannosidosis. (6869966)
1983
46
Distribution of central nervous system lesions in beta-mannosidosis. (6659869)
1983
47
Caprine beta mannosidosis: temporal bone pathology. (6624589)
1983
48
Alternative substrates for use in the detection of goats heterozygous for beta-mannosidosis. (7134652)
1982
49
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase. (7228876)
1981
50
Oligosaccharides accumulated in the kidney of a goat with beta-mannosidosis: mass spectrometry of intact permethylated derivatives. (7305382)
1981

Genetic Variations for Beta-Mannosidosis

Expression for genes affiliated with Beta-Mannosidosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Beta-Mannosidosis

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

Pathways for genes affiliated with Beta-Mannosidosis

Sources:
30KEGG, 54Reactome
See all sources

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

Sources:
45Novoseek
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Compounds related to Beta-Mannosidosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1polysaccharide459.2MAN2B1, MANBA, GCNT1

GO Terms for genes affiliated with Beta-Mannosidosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Beta-Mannosidosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet