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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Mannosidosis, Beta:

Name: Mannosidosis, Beta 52 12
Beta-Mannosidosis 11 48 24 25 54 70 39 13 68
Beta-Mannosidase Deficiency 11 48 24 25 54 70
Lysosomal Beta-Mannosidase Deficiency 11 48 25 70 68
 
Mannosidosis, Beta a, Lysosomal 52 48 70
Beta-D-Mannosidosis 11 25 27
Lysosomal Beta a Mannosidosis 25
Mansb 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
mannosidosis, beta:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 248510
Disease Ontology11 DOID:3633
MeSH39 D044905
NCIt45 C84596
Orphanet54 ORPHA118
SNOMED-CT62 238047006
MESH via Orphanet40 D044905
UMLS via Orphanet69 C0342849
ICD10 via Orphanet31 E77.1
UMLS68 C4048196

Summaries for Mannosidosis, Beta

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UniProtKB/Swiss-Prot:70 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 Other glycan degradation and Glycosaminoglycan metabolism. 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:25 Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.

OMIM:52 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 2 Alpha-Mannosidosis Type 1
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 tumor10.5MANBA, NAGA
2marginal zone b-cell lymphoma10.4MAN2B1, MANBA, NAGA
3hereditary elliptocytosis10.3MBP, NAGA
4supratentorial primitive neuroectodermal tumor10.3CTSA, MANBA, NAGA
5biphasic synovial sarcoma10.2MAG, MBP
6mood disorder10.2CTSA, HEXA
7mohr-tranebjaerg syndrome10.2MAG, MBP
8active vestibular meniere's disease10.1HEXA, MBP
9bile duct cystadenoma10.1HEXA, MBP
10hepatic osteogenic sarcoma10.1BCL2, MAG, MBP
11mannosidosis10.1
12atrial septal defect 610.1CTSA, GAA, NAGA
13bullous retinoschisis10.1MAG, MBP
14hyperglobulinemic purpura10.0CTSA, HEXA, MANBA
15hypothalamic disease10.0CTSA, HEXA
16mucopolysaccharidosis ih/s10.0GAA, HEXA
17relapsing-remitting multiple sclerosis10.0CTSA, HEXA
18tyrosinemia, type i9.9CTSA, HEXA
19gilles de la tourette syndrome9.9
20angiokeratoma9.9
21neuropathy9.9
22secondary lacrimal atrophy9.8MAG, MBP
23fucosidosis9.7CTSA, GAA, HEXA, NAGA
24niemann-pick disease, type b9.6CNP, MAG, MBP
25multiple sclerosis, disease progression, modifier of9.5CNP, MAG, MBP
26seizures, benign familial infantile, 19.5CTSA, GAA, HEXA, MAN2B1, MANBA
27malignant glioma9.5CTSA, GAA, HEXA, MAN2B1, MANBA
283-hydroxyacyl-coa dehydrogenase deficiency5.9BCL2, CNP, CTBS, CTSA, GAA, HEXA

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



Diseases related to mannosidosis, beta

Symptoms & Phenotypes for Mannosidosis, Beta

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Symptoms by clinical synopsis from OMIM:

248510

Clinical features from OMIM:

248510

Human phenotypes related to Mannosidosis, Beta:

 64 54 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000365
2 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
3 abnormal facial shape64 54 hallmark (90%) Very frequent (99-80%) HP:0001999
4 recurrent respiratory infections64 54 hallmark (90%) Very frequent (99-80%) HP:0002205
5 aplasia/hypoplasia of the abdominal wall musculature64 hallmark (90%) HP:0010318
6 cognitive impairment64 hallmark (90%) HP:0100543
7 tortuosity of conjunctival vessels64 HP:0000503
8 aggressive behavior64 HP:0000718
9 hyperactivity64 HP:0000752
10 angiokeratoma64 HP:0001014
11 intellectual disability64 54 Very frequent (99-80%) HP:0001249
12 muscular hypotonia64 HP:0001252
13 abnormality of metabolism/homeostasis64 HP:0001939
14 neurological speech impairment64 HP:0002167
15 demyelinating peripheral neuropathy64 HP:0007108
16 increased urinary disaccharide excretion64 HP:0012066
17 hypoplasia of the abdominal wall musculature54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Mannosidosis, Beta according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5BCL2, HEXA, MAG, MAN2B1, MBP
2MP:00053679.1BCL2, CTBS, CTSA, HEXA, MAN2B1, MANBA
3MP:00053858.6BCL2, CTBS, CTSA, GAA, MAN2B1, MANBA
4MP:00053978.1BCL2, CNP, CTBS, CTSA, MAG, MAN2B1
5MP:00053878.1BCL2, CNP, CTBS, CTSA, MAG, MAN2B1
6MP:00036317.8BCL2, CNP, HEXA, MAG, MAN2B1, MANBA
7MP:00053847.7BCL2, CNP, CTBS, CTSA, GAA, MAN2B1
8MP:00053897.6BCL2, CNP, CTSA, HEXA, MANBA, MBP
9MP:00053866.8BCL2, CNP, CTSA, GAA, HEXA, MAG
10MP:00053766.5BCL2, CNP, CTBS, CTSA, GAA, HEXA

Drugs & Therapeutics for Mannosidosis, Beta

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Drugs for Mannosidosis, Beta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Krestin202

Interventional clinical trials:

idNameStatusNCT IDPhase
1Longitudinal Studies of the GlycoproteinosesUnknown statusNCT01891422

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-Mannosidosis27
2 Beta-Mannosidosis24 MANBA

Anatomical Context for Mannosidosis, Beta

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MalaCards organs/tissues related to Mannosidosis, Beta:

36
Bone

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, -2SNVPathogenicChr na, -1: -1
2MANBAMANBA, IVS7, A-G, +1SNVPathogenicChr na, -1: -1
3MANBAMANBA, 10-BP INS, NT562insertionPathogenicChr na, -1: -1
4MANBAMANBA, IVS13AS, G-A, -1SNVPathogenicChr na, -1: -1
5MANBANM_005908.3(MANBA): c.1513T> C (p.Ser505Pro)SNVPathogenicrs121434334GRCh37Chr 4, 103579030: 103579030
6MANBAMANBA, 375A-GSNVPathogenicChr na, -1: -1
7MANBANM_005908.3(MANBA): c.247G> T (p.Glu83Ter)SNVPathogenicrs121434335GRCh37Chr 4, 103647771: 103647771
8MANBANM_005908.3(MANBA): c.1276C> T (p.Gln426Ter)SNVPathogenicrs121434336GRCh37Chr 4, 103590161: 103590161
9MANBAMANBA, 2-BP DEL, 1541ATdeletionPathogenicChr na, -1: -1

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
1lysosomal lumenGO:00432029.4CTSA, GAA, HEXA, MAN2B1, MANBA
2mitochondrial outer membraneGO:00057419.3BCL2, CNP, MAOA
3myelin sheath adaxonal regionGO:00357499.3CNP, MAG
4lysosomeGO:00057649.3CTBS, CTSA, GAA, MANBA, NAGA
5myelin sheathGO:00432098.8BCL2, CNP, MAG, MBP
6extracellular exosomeGO:00700627.6CNP, 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:005077110.3MAG, MBP
2oligosaccharide catabolic processGO:000931310.0CTBS, MAN2B1, MANBA
3regulation of mitochondrial membrane permeabilityGO:00469029.9BCL2, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet