MCID: BTM001
MIFTS: 54

Beta-Mannosidosis malady

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

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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 based summary: Beta-Mannosidosis, also known as beta-mannosidase deficiency, is related to lysosomal storage disease and angiokeratoma, and has symptoms including facial dysmorphism, hearing loss/hypoacusia/deafness and absent/hypotonic/flaccid abdominal wall muscles. An important gene associated with Beta-Mannosidosis is MANBA (mannosidase, beta A, lysosomal), and among its related pathways are Other glycan degradation and Lysosome. The compounds polysaccharide and mannose have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and thyroid, and related mouse phenotypes are liver/biliary system and renal/urinary system.

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

Wikipedia:65 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, 9diseasecard, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Beta-Mannosidosis, Aliases & Descriptions:

Name: Beta-Mannosidosis 8 21 10 48 62
Beta-Mannosidase Deficiency 8 21 48 62
Lysosomal Beta-Mannosidase Deficiency 8 21 62
Beta-D-Mannosidosis 8 22 21
 
Mannosidosis, Beta 9 20 46
Mannosidase Deficiency Diseases 62
Lysosomal Beta a Mannosidosis 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:3633
OMIM46 248510
MeSH34 D044905
NCIt39 C84596
SNOMED-CT57 238047006
MESH via Orphanet35 D044905
ICD10 via Orphanet26 E77.1
UMLS via Orphanet63 C0342849

Related Diseases for Beta-Mannosidosis

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Diseases in the Beta-Mannosidosis family:

Alpha-Mannosidosis Mannosidosis
Alpha Mannosidosis Type 2 Alpha-Mannosidosis Type 1
Mannosidosis, Alpha-, Types I and Ii

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1lysosomal storage disease30.5SGSH, NAGA
2angiokeratoma30.3NAGA, MANBA
3mannosidosis11.0
4thyroiditis10.3
5mannosidosis, beta a, lysosomal10.3
6gilles de la tourette syndrome10.2
7neuropathy10.2
8peripheral neuropathy10.2
9fucosidosis10.1
10spinocerebellar ataxia10.1
11ataxia10.1
12alpha-mannosidosis10.0MANBA, MAN2B1

Graphical network of diseases related to Beta-Mannosidosis:



Diseases related to beta-mannosidosis

Symptoms for Beta-Mannosidosis

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Symptoms by clinical synopsis from OMIM:

248510

Clinical features from OMIM:

248510

Symptoms:

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

HPO human phenotypes related to Beta-Mannosidosis:

(show all 21)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 seizures hallmark (90%) HP:0001250
3 abnormal facial shape hallmark (90%) HP:0001999
4 recurrent respiratory infections hallmark (90%) HP:0002205
5 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
6 cognitive impairment hallmark (90%) HP:0100543
7 autosomal recessive inheritance HP:0000007
8 hearing impairment HP:0000365
9 tortuosity of conjunctival vessels HP:0000503
10 aggressive behavior HP:0000718
11 hyperactivity HP:0000752
12 angiokeratoma HP:0001014
13 intellectual disability HP:0001249
14 seizures HP:0001250
15 muscular hypotonia HP:0001252
16 abnormality of metabolism/homeostasis HP:0001939
17 abnormal facial shape HP:0001999
18 neurological speech impairment HP:0002167
19 recurrent infections HP:0002719
20 demyelinating peripheral neuropathy HP:0007108
21 increased urinary disaccharide excretion HP:0012066

Drugs & Therapeutics for Beta-Mannosidosis

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Drug clinical trials:

Search ClinicalTrials for Beta-Mannosidosis

Search NIH Clinical Center for Beta-Mannosidosis

Genetic Tests for Beta-Mannosidosis

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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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MalaCards organs/tissues related to Beta-Mannosidosis:

32
Bone, Kidney, Thyroid, Brain

Animal Models for Beta-Mannosidosis or affiliated genes

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MGI Mouse Phenotypes related to Beta-Mannosidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1MANBA, MAN2B1, SGSH
2MP:00053679.1SGSH, MAN2B1, MANBA
3MP:00053818.9MANBA, MAN2B1, CNP
4MP:00053908.9MAN2B1, CNP, SGSH
5MP:00053918.8SGSH, CNP, MAN2B1
6MP:00053978.7MANBA, MAN2B1, CNP, SGSH
7MP:00053868.7SGSH, CNP, MAN2B1, MANBA
8MP:00053878.6SGSH, CNP, MAN2B1, MANBA
9MP:00053798.6MANBA, MAN2B1, CNP
10MP:00036318.5MANBA, MAN2B1, CNP, SGSH

Publications for Beta-Mannosidosis

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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
Beta-mannosidosis mice: a model for the human lysosomal storage disease. (16377659)
2006
5
Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. (12890191)
2003
6
Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. (12468273)
2002
7
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. (10571005)
1999
8
Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes. (10594236)
1999
9
Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (9384606)
1998
10
Biochemical and morphological expression of early prenatal caprine beta-mannosidosis. (9203214)
1997
11
Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis. (8921369)
1996
12
Development and efficacy of ultrasound-guided fetal fluid aspiration techniques for prenatal diagnosis of caprine beta-mannosidosis. (16727750)
1995
13
Myelin-associated glycoprotein (MAG) in myelin deficiency of caprine beta-mannosidosis. (7691380)
1993
14
Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle. (8293984)
1993
15
Caprine beta-mannosidosis: aberrant phenotype in a 5-month-old euthyroid animal. (8295417)
1993
16
Ubiquitinated inclusions in brains from Salers calves with beta-mannosidosis. (8212463)
1993
17
Possible beta-mannosidosis chimera. Altered expression of metabolic perturbations. (8127051)
1993
18
Beta-mannosidosis and ethanolaminuria in a female patient. (1499588)
1992
19
Beta-mannosidosis in Salers calves in Australia. (1642601)
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
Human beta-mannosidosis: a 3-year-old boy with speech impairment and emotional instability. (1623631)
1992
23
Caprine beta-mannosidosis: regional differences in deficits of CNS myelin proteins. (1283736)
1992
24
Oligosaccharides accumulated in the bovine beta-mannosidosis kidney. (1583877)
1992
25
Prenatal analyses in a pregnancy at risk for beta-mannosidosis. (1475254)
1992
26
The ocular and otic pathology of bovine beta-mannosidosis. (1554780)
1992
27
Complementation studies in human and caprine beta-mannosidosis. (1861455)
1991
28
Thyroid structure and function in bovine beta-mannosidosis. (1886407)
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
Ocular pathology of caprine beta-mannosidosis. (2588439)
1989
36
Dysmyelinogenesis in caprine beta-mannosidosis: ultrastructural and morphometric studies in fetal optic nerve. (3503502)
1987
37
Caprine beta-mannosidosis: phenotypic features. (2939617)
1986
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
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
43
Caprine beta-mannosidosis: clinical and pathological features. (6842266)
1983
44
Beta-mannosidosis: lesions of the distal peripheral nervous system. (6637401)
1983
45
Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharides. (6882792)
1983
46
Caprine alpha- and beta-mannosidase activities: effects of age, sex, and reproductive status and potential use in heterozygote detection of beta-mannosidosis. (6869966)
1983
47
Distribution of central nervous system lesions in beta-mannosidosis. (6659869)
1983
48
Alternative substrates for use in the detection of goats heterozygous for beta-mannosidosis. (7134652)
1982
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

Variations for Beta-Mannosidosis

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Clinvar genetic disease variations for Beta-Mannosidosis:

6
id Gene Name Type Significance SNP ID Assembly Location
1MANBAMANBA, IVS-AS, A-G, -2single nucleotide variantPathogenic
2MANBAMANBA, IVS7, A-G, +1single nucleotide variantPathogenic
3MANBAMANBA, 10-BP INS, NT562insertionPathogenic
4MANBAMANBA, IVS13AS, G-A, -1single nucleotide variantPathogenic
5MANBANM_005908.3(MANBA): c.1513T> C (p.Ser505Pro)single nucleotide variantPathogenicrs121434334GRCh37Chr 4, 103579030: 103579030
6MANBAMANBA, 375A-Gsingle nucleotide variantPathogenic
7MANBANM_005908.3(MANBA): c.247G> T (p.Glu83Ter)single nucleotide variantPathogenicrs121434335GRCh37Chr 4, 103647771: 103647771
8MANBANM_005908.3(MANBA): c.1276C> T (p.Gln426Ter)single nucleotide variantPathogenicrs121434336GRCh37Chr 4, 103590161: 103590161
9MANBAMANBA, 2-BP DEL, 1541ATdeletionPathogenic

Expression for genes affiliated with Beta-Mannosidosis

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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

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Pathways related to Beta-Mannosidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4MANBA, MAN2B1
28.5MANBA, MAN2B1, NAGA, SGSH

Compounds for genes affiliated with Beta-Mannosidosis

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

idCompoundScoreTop Affiliating Genes
1polysaccharide449.4MANBA, MAN2B1
2mannose449.1MANBA, MAN2B1

GO Terms for genes affiliated with Beta-Mannosidosis

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057648.9MANBA, MAN2B1, NAGA

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

idNameGO IDScoreTop Affiliating Genes
1cellular protein modification processGO:0064649.4MANBA, MAN2B1

Products for genes affiliated with Beta-Mannosidosis

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  • Antibodies
  • Proteins
  • Lysates

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