MCID: MNN044
MIFTS: 44

Mannosidosis, Beta malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases

Aliases & Classifications for Mannosidosis, Beta

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Mannosidosis, Beta:

Name: Mannosidosis, Beta 50 12
Beta-Mannosidosis 11 46 23 24 13 52 68 37
Beta-Mannosidase Deficiency 11 46 23 24 52 68
Lysosomal Beta-Mannosidase Deficiency 11 46 24 68 66
 
Mannosidosis, Beta a, Lysosomal 50 46 68
Beta-D-Mannosidosis 11 24 25
Lysosomal Beta a Mannosidosis 24
Mansb 68

Characteristics:

Orphanet epidemiological data:

52
beta-mannosidosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Czech Republic),1-9/1000000 (Netherlands),1-9/1000000 (Portugal); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal

HPO:

62
mannosidosis, beta:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 248510
Disease Ontology11 DOID:3633
MeSH37 D044905
NCIt43 C84596
Orphanet52 ORPHA118
SNOMED-CT60 238047006
ICD10 via Orphanet29 E77.1
MESH via Orphanet38 D044905
UMLS via Orphanet67 C0342849
UMLS66 C4048196

Summaries for Mannosidosis, Beta

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UniProtKB/Swiss-Prot:68 Mannosidosis, beta A, lysosomal: An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes.

MalaCards based summary: Mannosidosis, Beta, also known as beta-mannosidosis, is related to malignant gastric germ cell tumor and marginal zone b-cell lymphoma, and has symptoms including hearing impairment, seizures and abnormal facial shape. An important gene associated with Mannosidosis, Beta is MANBA (Mannosidase Beta), and among its related pathways are Glycosphingolipid biosynthesis - globo series and Other glycan degradation. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:11 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.

Genetics Home Reference:24 Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.

OMIM:50 Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency... (248510) more...

Related Diseases for Mannosidosis, Beta

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Diseases in the Mannosidosis family:

mannosidosis, beta Mannosidosis, Alpha-, Types I and Ii
Alpha-Mannosidosis Type 1 Alpha Mannosidosis Type 2
Alpha-Mannosidosis, Infantile Form Alpha-Mannosidosis, Adult Form

Diseases related to Mannosidosis, Beta via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1malignant gastric germ cell tumor10.6MANBA, NAGA
2marginal zone b-cell lymphoma10.4MAN2B1, MANBA, NAGA
3hereditary elliptocytosis10.4MBP, NAGA
4supratentorial primitive neuroectodermal tumor10.3CTSA, MANBA, NAGA
5biphasic synovial sarcoma10.3MAG, MBP
6mood disorder10.3CTSA, HEXA
7mohr-tranebjaerg syndrome10.2MAG, MBP
8active vestibular meniere's disease10.2HEXA, MBP
9bile duct cystadenoma10.1HEXA, MBP
10hepatic osteogenic sarcoma10.1BCL2, MAG, MBP
11atrial septal defect 610.1CTSA, GAA, NAGA
12bullous retinoschisis10.1MAG, MBP
13hyperglobulinemic purpura10.1CTSA, HEXA, MANBA
14hypothalamic disease10.1CTSA, HEXA
15mannosidosis10.1
16mucopolysaccharidosis ih/s10.0GAA, HEXA
17relapsing-remitting multiple sclerosis10.0CTSA, HEXA
18gilles de la tourette syndrome10.0
19angiokeratoma10.0
20neuropathy10.0
21tyrosinemia, type i9.9CTSA, HEXA
22secondary lacrimal atrophy9.8MAG, MBP
23fucosidosis9.6CTSA, GAA, HEXA, NAGA
24niemann-pick disease, type b9.6CNP, MAG, MBP
25multiple sclerosis, disease progression, modifier of9.5CNP, MAG, MBP
26seizures, benign familial infantile, 19.4CTSA, GAA, HEXA, MAN2B1, MANBA
27malignant glioma9.4CTSA, GAA, HEXA, MAN2B1, MANBA
283-hydroxyacyl-coa dehydrogenase deficiency5.4BCL2, CNP, CTBS, CTSA, GAA, HEXA

Graphical network of the top 20 diseases related to Mannosidosis, Beta:



Diseases related to mannosidosis, beta

Symptoms for Mannosidosis, Beta

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Symptoms by clinical synopsis from OMIM:

248510

Clinical features from OMIM:

248510

Symptoms:

 52
  • hearing impairment
  • intellectual disability
  • seizures
  • abnormal facial shape
  • recurrent respiratory infections
  • hypoplasia of the abdominal wall musculature

HPO human phenotypes related to Mannosidosis, Beta:

(show all 19)
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 hearing impairment HP:0000365
8 tortuosity of conjunctival vessels HP:0000503
9 aggressive behavior HP:0000718
10 hyperactivity HP:0000752
11 angiokeratoma HP:0001014
12 intellectual disability HP:0001249
13 seizures HP:0001250
14 muscular hypotonia HP:0001252
15 abnormality of metabolism/homeostasis HP:0001939
16 abnormal facial shape HP:0001999
17 neurological speech impairment HP:0002167
18 demyelinating peripheral neuropathy HP:0007108
19 increased urinary disaccharide excretion HP:0012066

Drugs & Therapeutics for Mannosidosis, Beta

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Longitudinal Studies of the GlycoproteinosesRecruitingNCT01891422

Search NIH Clinical Center for Mannosidosis, Beta


Cochrane evidence based reviews: beta-mannosidosis

Genetic Tests for Mannosidosis, Beta

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Genetic tests related to Mannosidosis, Beta:

id Genetic test Affiliating Genes
1 Beta-D-Mannosidosis25
2 Beta-Mannosidosis23 MANBA

Anatomical Context for Mannosidosis, Beta

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MalaCards organs/tissues related to Mannosidosis, Beta:

34
Bone

Animal Models for Mannosidosis, Beta or affiliated genes

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MGI Mouse Phenotypes related to Mannosidosis, Beta:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1BCL2, HEXA, MAG, MAN2B1, MBP
2MP:00053678.2BCL2, CTBS, CTSA, HEXA, MAN2B1, MANBA
3MP:00053898.0BCL2, CNP, CTSA, HEXA, MANBA, MBP
4MP:00053857.8BCL2, CTBS, CTSA, GAA, MAN2B1, MANBA
5MP:00053877.7BCL2, CNP, CTBS, CTSA, MAG, MAN2B1
6MP:00053977.6BCL2, CNP, CTBS, CTSA, MAG, MAN2B1
7MP:00053847.1BCL2, CNP, CTBS, CTSA, GAA, MAN2B1
8MP:00036317.1BCL2, CNP, HEXA, MAG, MAN2B1, MANBA
9MP:00053765.6BCL2, CNP, CTBS, CTSA, GAA, HEXA
10MP:00053865.6BCL2, CNP, CTSA, GAA, HEXA, MAG

Publications for Mannosidosis, Beta

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Variations for Mannosidosis, Beta

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Clinvar genetic disease variations for Mannosidosis, Beta:

5
id Gene Variation 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 Mannosidosis, Beta

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

Pathways for genes affiliated with Mannosidosis, Beta

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GO Terms for genes affiliated with Mannosidosis, Beta

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Cellular components related to Mannosidosis, Beta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myelin sheath adaxonal regionGO:00357499.9CNP, MAG
2lysosomal lumenGO:00432029.2CTSA, GAA, HEXA, MAN2B1, MANBA
3mitochondrial outer membraneGO:00057419.1BCL2, CNP, MAOA
4myelin sheathGO:00432098.7BCL2, CNP, MAG, MBP
5lysosomeGO:00057648.7CTBS, CTSA, GAA, MANBA, NAGA
6extracellular exosomeGO:00700626.8CNP, CTBS, CTSA, GAA, HEXA, MAN2B1

Biological processes related to Mannosidosis, Beta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of axonogenesisGO:005077110.0MAG, MBP
2oligosaccharide catabolic processGO:00093139.7CTBS, MAN2B1, MANBA
3regulation of mitochondrial membrane permeabilityGO:00469029.7BCL2, CNP
4response to toxic substanceGO:00096369.0BCL2, CNP, MBP

Molecular functions related to Mannosidosis, Beta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate bindingGO:00302469.4GAA, MAG, MAN2B1

Sources for Mannosidosis, Beta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet